question,answer,sample Does exogenous phosphatidylethanolamine induce apoptosis of human hepatoma HepG2 cells via the bcl-2/Bax pathway?,Exogenous PE induces apoptosis of human hepatoma HepG2 cells via the bcl-2/bax pathway.,30778 Is body mass a poor predictor of peak plantar pressure in diabetic men?,"Although the correlation between body mass and peak plantar pressure is statistically significant, the functional relationship between the two variables is weak. Elevated plantar pressures are as likely to occur in small individuals as they are in those with large body mass. Foot deformity, in the presence of neuropathy and other permissive factors, is itself likely to be an important risk factor for plantar ulceration in diabetes, and this hypothesis deserves further exploration.",30779 What are the symptoms of Neutrophil-specific granule deficiency ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent neutrophil specific granules - Autosomal recessive inheritance - Hyposegmentation of neutrophil nuclei - Recurrent infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30780 Does hepatic HNF4alpha deficiency induce periportal expression of glutamine synthetase and other pericentral enzymes?,"Our findings show that HNF4alpha suppresses the expression of pericentral proteins in periportal hepatocytes, possibly via a HDAC1-mediated mechanism. Furthermore, we show that HNF4alpha deficiency induces foci of regenerating hepatocytes.",30781 What are the treatments for ALG1-congenital disorder of glycosylation ?,These resources address the diagnosis or management of ALG1-congenital disorder of glycosylation: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1K These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30782 Does iL-15 expression on RA synovial fibroblasts promote B cell survival?,"IL-15 expression on RASFib significantly contributes to the anti-apoptotic effect of RASFib on B cells. IL-15 action is facilitated by BAFF and VCAM-1 expressed on RASFib, through an upregulation of IL-15R chains.",30783 Is biased and inadequate citation of prior research in reports of cardiovascular trials a continuing source of waste in research?,"Selective undercitation of prior research continues; three quarters of existing evidence is ignored. This source of waste may result in unnecessary, unethical, and unscientific studies.",30784 What causes Harlequin ichthyosis ?,"Harlequin ichthyosis is caused by mutations in the ABCA12 gene. This gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein, while others lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.",30785 What causes High Blood Cholesterol ?,"Many things can affect the level of cholesterol in your blood. You can control some of these things but not others. What You Can Control You can control - what you eat - your weight - your activity level. what you eat your weight your activity level. Your Diet Certain foods have several types of fat that raise your cholesterol level. - Saturated fat increases your LDL cholesterol level more than anything else in your diet. Saturated fat is found mostly in foods that come from animal sources such as egg yolks, meat, and milk products, including butter, cream and cheese. These foods also contain cholesterol. Saturated fat increases your LDL cholesterol level more than anything else in your diet. Saturated fat is found mostly in foods that come from animal sources such as egg yolks, meat, and milk products, including butter, cream and cheese. These foods also contain cholesterol. - Trans fatty acids, or trans fats, also raise your LDL cholesterol level. These mostly come from vegetable oil that has gone through a process called hydrogenation to make it hard. Examples of foods containing trans fats include many convenience foods such as doughnuts, French fries, cookies, cakes and pastries. Trans fatty acids, or trans fats, also raise your LDL cholesterol level. These mostly come from vegetable oil that has gone through a process called hydrogenation to make it hard. Examples of foods containing trans fats include many convenience foods such as doughnuts, French fries, cookies, cakes and pastries. Your Weight Being overweight tends to - increase your LDL level - lower your HDL level - increase your total cholesterol level. increase your LDL level lower your HDL level increase your total cholesterol level. Your Activity Level If you don't exercise regularly, you may gain weight. This could increase your LDL cholesterol level. Regular exercise can help you lose weight and lower your LDL level. It can also help you increase your HDL level. What You Cannot Control You cannot control some things that can affect the level of cholesterol in your blood, including - your heredity - your age - your sex. your heredity your age your sex. High blood cholesterol can run in families. For most people, their cholesterol level is the result of an interaction between their genes and their lifestyles. As we get older, our cholesterol levels rise. - Before menopause, women tend to have lower total cholesterol levels than men of the same age. - After menopause, women's LDL (bad) cholesterol levels tend to increase. Before menopause, women tend to have lower total cholesterol levels than men of the same age. After menopause, women's LDL (bad) cholesterol levels tend to increase.",30786 "What are the symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ?","The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Aggressive behavior - Arnold-Chiari type I malformation - Blepharophimosis - Broad alveolar ridges - Broad foot - Broad nasal tip - Gingival overgrowth - Highly arched eyebrow - Hyperkeratosis - Hypertrichosis - Intellectual disability - Low anterior hairline - Low posterior hairline - Low-set ears - Posteriorly rotated ears - Prominent fingertip pads - Short chin - Short palpebral fissure - Short philtrum - Sporadic - Thick corpus callosum - Thick eyebrow - Upslanted palpebral fissure - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30787 What are the symptoms of Lubinsky syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Lubinsky syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the testis 90% Cataract 90% Decreased fertility 90% Autosomal recessive inheritance - Elevated follicle stimulating hormone - Hypogonadism - Infertility - Male hypogonadism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30788 "Is a CD8 T cell/indoleamine 2,3-dioxygenase axis required for mesenchymal stem cell suppression of human systemic lupus erythematosus?",We found a previously unrecognized CD8+ T cell/IFNγ/IDO axis that mediates the therapeutic effects of allogeneic MSCs in lupus patients.,30789 What is (are) AL amyloidosis ?,"AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed.",30790 Does 6-Methoxyflavanone attenuate mechanical allodynia and vulvodynia in the streptozotocin-induced diabetic neuropathic pain?,"6-MeOF readily crosses the blood brain barrier and may be effective in attenuating the diabetes-induced allodynia as well as vulvodynia, probably through interactions with the GABAergic and opioidergic systems.",30791 Does inhibition of FoxM1-Mediated DNA Repair by Imipramine Blue suppress Breast Cancer Growth and Metastasis?,"These findings highlight the potential of IB to be applied as a safe regimen for treating breast cancer patients. Given that FoxM1 is an established therapeutic target for several cancers, the identification of a compound that inhibits FoxM1- and FoxM1-mediated DNA repair has immense translational potential for treating many aggressive cancers. Clin Cancer Res; 22(14); 3524-36. ©2016 AACR.",30792 Do you have information about Infant and Newborn Nutrition,"Summary : Food provides the energy and nutrients that babies need to be healthy. For a baby, breast milk is best. It has all the necessary vitamins and minerals. Infant formulas are available for babies whose mothers are not able or decide not to breastfeed. Infants usually start eating solid foods between 4 and 6 months of age. Check with your health care provider for the best time for your baby to start. If you introduce one new food at a time, you will be able to identify any foods that cause allergies in your baby. Some foods to stay away from include - Eggs - Honey - Peanuts (including peanut butter) - Other tree nuts",30793 What are the genetic changes related to progressive familial intrahepatic cholestasis ?,"Mutations in the ATP8B1, ABCB11, and ABCB4 genes can cause PFIC. ATP8B1 gene mutations cause PFIC1. The ATP8B1 gene provides instructions for making a protein that helps to maintain an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. In its role in maintaining bile acid homeostasis, some researchers believe that the ATP8B1 protein is involved in moving certain fats across cell membranes. Mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells, damaging these cells and causing liver disease. The ATP8B1 protein is found throughout the body, but it is unclear how a lack of this protein causes short stature, deafness, and other signs and symptoms of PFIC1. Mutations in the ABCB11 gene are responsible for PFIC2. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. Mutations in the ABCB11 gene result in the buildup of bile salts in liver cells, damaging these cells and causing liver disease. ABCB4 gene mutations cause PFIC3. The ABCB4 gene provides instructions for making a protein that moves certain fats called phospholipids across cell membranes. Outside liver cells, phospholipids attach (bind) to bile acids. Large amounts of bile acids can be toxic when they are not bound to phospholipids. Mutations in the ABCB4 gene lead to a lack of phospholipids available to bind to bile acids. A buildup of free bile acids damages liver cells and leads to liver disease. Some people with PFIC do not have a mutation in the ATP8B1, ABCB11, or ABCB4 gene. In these cases, the cause of the condition is unknown.",30794 What is (are) Mucopolysaccharidosis type IIID ?,"Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.",30795 Is the IS6110 repetitive DNA element of Mycobacterium tuberculosis detected in exhaled breath condensate of patients with active pulmonary tuberculosis?,The IS6110 repetitive DNA element of M. tuberculosis is not detected in exhaled breath condensate of patients with newly diagnosed active pulmonary tuberculosis.,30796 Does anthocyanin-rich Aronia melanocarpa extract improve body temperature maintenance in healthy women with a cold constitution?,"These data suggest that dietary Aronia melanocarpa extract improves the maintenance of body temperature in healthy women with a cold constitution, which may be mediated by noradrenalin and oxidative stress levels.",30797 Does the SOD2 Val/Val genotype enhance the risk of nonsmall cell lung carcinoma by p53 and XRCC1 polymorphisms?,"The SOD2 Val/Val genotype may increase the risk of NSCLC carried by XRCC1 and p53 polymorphisms, particularly for adenocarcinoma.",30798 What are the treatments for Myotonia Congenita ?,"Most people with myotonia congenita dont require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin. Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function.",30799 Do human platelets express tissue factor?,"It is concluded that platelets free of monocytes do not express TF activity when stimulated by LPS or activated complement factors, implying no role for Toll like receptor (TLR4) as suggested recently. There is no evidence of TF activity associated with platelets as a result of rapid and dynamic process.",30800 How many people are affected by hypomyelination and congenital cataract ?,The prevalence of hypomyelination and congenital cataract is unknown.,30801 What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Proximal neuropathy, sometimes called lumbosacral plexus neuropathy, femoral neuropathy, or diabetic amyotrophy, starts with pain in the thighs, hips, buttocks, or legs, usually on one side of the body. This type of neuropathy is more common in those with type 2 diabetes and in older adults with diabetes. Proximal neuropathy causes weakness in the legs and the inability to go from a sitting to a standing position without help. Treatment for weakness or pain is usually needed. The length of the recovery period varies, depending on the type of nerve damage.",30802 Does computer assistance increase precision of component placement in total knee arthroplasty with articular deformity?,Surgical navigation obtains better radiographic results in the positioning of the femoral and tibial components and in the final axis of the limb in arthroplasties performed on both deformed and more normally aligned knees.,30803 What is (are) Developmental Dyspraxia ?,"Developmental dyspraxia is a disorder characterized by an impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear ""out of sync"" with their environment. Symptoms vary and may include poor balance and coordination, clumsiness, vision problems, perception difficulties, emotional and behavioral problems, difficulty with reading, writing, and speaking, poor social skills, poor posture, and poor short-term memory. Although individuals with the disorder may be of average or above average intelligence, they may behave immaturely.",30804 Is matrix-assisted laser desorption ionization-time of flight mass spectrometry identification of yeasts contingent on robust reference spectra?,"MALDI-TOF MS enabled rapid, reliable identification of clinically-important yeasts. The addition of spectra to databases and reduction in identification scores required for species-level identification may improve its utility.",30805 How many people are affected by PRICKLE1-related progressive myoclonus epilepsy with ataxia ?,The prevalence of PRICKLE1-related progressive myoclonus epilepsy with ataxia is unknown. The condition has been reported in three large families from Jordan and northern Israel and in at least two unrelated individuals.,30806 What is (are) Perry syndrome ?,"Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties. Parkinsonism and psychiatric changes are usually the earliest features of Perry syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and behavior. The most frequent psychiatric changes that occur in people with Perry syndrome include depression, a general loss of interest and enthusiasm (apathy), withdrawal from friends and family, and suicidal thoughts. Many affected individuals also experience significant, unexplained weight loss early in the disease. Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing most often occurs at night, causing affected individuals to wake up frequently. As the disease worsens, hypoventilation can result in a life-threatening lack of oxygen and respiratory failure. People with Perry syndrome typically survive for about 5 years after signs and symptoms first appear. Most affected individuals ultimately die of respiratory failure or pneumonia. Suicide is another cause of death in this condition.",30807 Is berberine-induced upregulation of circulating endothelial progenitor cells related to nitric oxide production in healthy subjects?,BR-induced upregulation of the number and function of circulating EPCs in healthy subjects is related to NO production.,30808 Are obstructive sleep apnea and obesity associated with reduced GPR 120 plasma levels in children?,G protein-coupled receptor 120 (GPR 120) levels are reduced in pediatric OSA and obesity (particularly when both are present) and may play a role in modulating the degree of insulin resistance. The short- and long-term significance of reduced GPR 120 relative to food intake and glycemic deregulation remains undefined.,30809 What is (are) Catecholaminergic polymorphic ventricular tachycardia ?,"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age. If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT. An Implantable Cardioverter Defibrillator (ICD) may also be needed.",30810 What is (are) Myelodysplastic Syndromes ?,"Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. Many of them die in the bone marrow. This means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. If you have symptoms, they may include - Shortness of breath - Weakness or feeling tired - Skin that is paler than usual - Easy bruising or bleeding - Pinpoint spots under the skin caused by bleeding - Fever or frequent infections Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants. NIH: National Cancer Institute",30811 Do mUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility?,MUC4 polymorphisms are associated with endometriosis development and endometriosis-related infertility in the Taiwanese population.,30812 "What are the treatments for Craniometaphyseal dysplasia, autosomal recessive type ?","Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes.",30813 Is the vitamin D receptor gene variant associated with the prevalence of type 2 diabetes mellitus and coronary artery disease?,The genotype of the vitamin D receptor polymorphism determines the prevalence of Type 2 diabetes mellitus and coronary artery disease in a high-risk cohort population.,30814 Is Perry syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. However, some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",30815 Do rapid onset and dissipation of left atrial spontaneous echo contrast during percutaneous balloon mitral valvotomy?,SEC is a dynamic and acutely reversible phenomenon that is highly sensitive to changes in left atrial hemodynamic conditions. Left atrial blood stasis induced by balloon inflation may promote thrombogenesis during PBMV.,30816 Do effects of the electrode location on tonal discrimination and speech perception of Mandarin-speaking patients with a cochlear implant?,Less mismatch of the frequency-to-place alignment may account for the improvement of word identification in conditions with electrodes coverage to more apical location; and in conditions where the mid-region of the cochlea were stimulated.,30817 Do event-related potentials reflect spectral differences in speech and non-speech stimuli in children and adults?,"Auditory feature processing is reflected by P1-P2 and N2-N4 peaks and matures earlier than supra-sensory integrative mechanisms, reflected by N1-P2 peaks. Auditory P2 appears to pertain to both processing types.",30818 Does a significant linear association exist between nuchal translucency thickness and adverse perinatal outcome in euploid fetuses?,"A linear association exists between NT thickness in chromosomally and structurally normal fetuses, and the risk for gestational diabetes and perinatal mortality.",30819 Does s100A4 regulate migration and invasion in hepatocellular carcinoma HepG2 cells via NF-κB-dependent MMP-9 signal?,"Our findings indicate that S100A4 contributes to HCC metastasis by activation of NF-kB dependent MMP-9 expression, suggesting S100A4 as a novel diagnostic biomarker and therapeutic target in HCC.",30820 Who is at risk for Oxygen Therapy? ?,"Oxygen therapy can cause complications and side effects. These problems might include a dry or bloody nose, skin irritation from the nasal cannula or face mask, fatigue (tiredness), and morning headaches. If these problems persist, tell your doctor and home equipment provider. Depending on the problem, your doctor may need to change your oxygen flow rate or the length of time you're using the oxygen. If nose dryness is a problem, your doctor may recommend a nasal spray or have a humidifier added to your oxygen equipment. If you have an uncomfortable nasal cannula or face mask, your home equipment provider can help you find a device that fits better. Your provider also can recommend over-the-counter gels and devices that are designed to lessen skin irritation. Complications from transtracheal oxygen therapy can be more serious. With this type of oxygen therapy, oxygen is delivered through a tube inserted into your windpipe through the front of your neck. With transtracheal oxygen therapy: Mucus balls might develop on the tube inside the windpipe. Mucus balls tend to form as a result of the oxygen drying out the airways. Mucus balls can cause coughing and clog the windpipe or tube. Problems with the tube slipping or breaking. Infection. Injury to the lining of the windpipe. Proper medical care and correct handling of the tube and other supplies may reduce the risk of complications. Other Risks In certain people, oxygen therapy may suppress the drive to breathe, affecting how well the respiratory system works. This is managed by adjusting the oxygen flow rate. Oxygen poses a fire risk, so you'll need to take certain safety steps. Oxygen itself isn't explosive, but it can worsen a fire. In the presence of oxygen, a small fire can quickly get out of control. Also, the cylinder that compressed oxygen gas comes in might explode if exposed to heat. Your home equipment provider will give you a complete list of safety steps you'll need to take at home and when out in public. For example, when you're not using the oxygen, keep it in an airy room. Never store compressed oxygen gas cylinders and liquid oxygen containers in small, enclosed places, such as in closets, behind curtains, or under clothes. Oxygen containers let off small amounts of oxygen. These small amounts can build up to harmful levels if they're allowed to escape into small spaces.",30821 Does low dose resveratrol improve cerebrovascular function in type 2 diabetes mellitus?,"Our results provide the first clinical evidence of an acute enhancement of vasodilator responsiveness in cerebral vessels following consumption of resveratrol in this population who are known to have endothelial dysfunction and sub-clinical cognitive impairment. Importantly, maximum improvement was observed with the lowest dose used.",30822 "How many people are affected by hypermanganesemia with dystonia, polycythemia, and cirrhosis ?",The prevalence of HMDPC is unknown. A small number of cases have been described in the scientific literature.,30823 What are the treatments for fish-eye disease ?,These resources address the diagnosis or management of fish-eye disease: - Genetic Testing Registry: Fish-eye disease - MedlinePlus Encyclopedia: Corneal Transplant - Oregon Health and Science University: Corneal Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30824 "How many people are affected by TK2-related mitochondrial DNA depletion syndrome, myopathic form ?",The prevalence of TK2-MDS is unknown. Approximately 45 cases have been described.,30825 Is hereditary pancreatitis inherited ?,"When hereditary pancreatitis is caused by mutations in the PRSS1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the PRSS1 gene mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. It is estimated that 20 percent of people who have the altered PRSS1 gene never have an episode of pancreatitis. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene never develop signs and symptoms of the disease.",30826 Is Spastic diplegia cerebral palsy inherited ?,"Scientists have found that family members of people with cerebral palsy, including spastic diplegia cerebral palsy, have an increased risk of developing the condition. The exact risk depends on the how closely the family members are related: A child with a sibling (brother, sister) or parent with cerebral palsy would have a six- to nine-fold increased risk of developing the condition (actual risk: 1 to 1.5%) A child with a half sibling with cerebral palsy would have up to a three-fold risk of developing the condition (actual risk: less than 1%) A child with a first cousin with cerebral palsy would have a 1.5-fold increased risk of developing the condition (actual risk: less than 1%) This suggests that there may be a genetic component in some cases of cerebral palsy. However, the inheritance is likely multifactorial which means the condition is caused by multiple genes interacting with each other and with environmental factors.",30827 What are the symptoms of Disseminated Intravascular Coagulation ?,"Signs and symptoms of disseminated intravascular coagulation (DIC) depend on its cause and whether the condition is acute or chronic. Acute DIC develops quickly (over hours or days) and is very serious. Chronic DIC develops more slowly (over weeks or months). It lasts longer and usually isn't recognized as quickly as acute DIC. With acute DIC, blood clotting in the blood vessels usually occurs first, followed by bleeding. However, bleeding may be the first obvious sign. Serious bleeding can occur very quickly after developing acute DIC. Thus, emergency treatment in a hospital is needed. Blood clotting also occurs with chronic DIC, but it usually doesn't lead to bleeding. Sometimes chronic DIC has no signs or symptoms. Signs and Symptoms of Excessive Blood Clotting In DIC, blood clots form throughout the body's small blood vessels. These blood clots can reduce or block blood flow through the blood vessels. This can cause the following signs and symptoms: Chest pain and shortness of breath if blood clots form in the blood vessels in your lungs and heart. Pain, redness, warmth, and swelling in the lower leg if blood clots form in the deep veins of your leg. Headaches, speech changes, paralysis (an inability to move), dizziness, and trouble speaking and understanding if blood clots form in the blood vessels in your brain. These signs and symptoms may indicate a stroke. Heart attack and lung and kidney problems if blood clots lodge in your heart, lungs, or kidneys. These organs may even begin to fail. Signs and Symptoms of Bleeding In DIC, the increased clotting activity uses up the platelets and clotting factors in the blood. As a result, serious bleeding can occur. DIC can cause internal and external bleeding. Internal Bleeding Internal bleeding can occur in your body's organs, such as the kidneys, intestines, and brain. This bleeding can be life threatening. Signs and symptoms of internal bleeding include: Blood in your urine from bleeding in your kidneys or bladder. Blood in your stools from bleeding in your intestines or stomach. Blood in your stools can appear red or as a dark, tarry color. (Taking iron supplements also can cause dark, tarry stools.) Headaches, double vision, seizures, and other symptoms from bleeding in your brain. External Bleeding External bleeding can occur underneath or from the skin, such as at the site of cuts or an intravenous (IV) needle. External bleeding also can occur from the mucosa. (The mucosa is the tissue that lines some organs and body cavities, such as your nose and mouth.) External bleeding may cause purpura (PURR-purr-ah) or petechiae (peh-TEE-key-ay). Purpura are purple, brown, and red bruises. This bruising may happen easily and often. Petechiae are small red or purple dots on your skin. Purpura and Petechiae Other signs of external bleeding include: Prolonged bleeding, even from minor cuts. Bleeding or oozing from your gums or nose, especially nosebleeds or bleeding from brushing your teeth. Heavy or extended menstrual bleeding in women.",30828 Is the duration of SIRS before organ failure a significant prognostic factor of sepsis?,DSOF may be a useful prognostic factor for severe sepsis.,30829 Does isoflurane produce delayed preconditioning against spinal cord ischemic injury via release of free radicals in rabbits?,"Isoflurane produces delayed preconditioning against spinal cord ischemic injury, and the beneficial effect may be dependent on the release of free radicals.",30830 What is the outlook for Neuroleptic Malignant Syndrome ?,"Early identification of and treatment for individuals with neuroleptic malignant syndrome improves outcome. If clinically indicated, a low potency neuroleptic can be reintroduced very slowly when the individual recovers, although there is a risk that the syndrome might recur. Another alternative is to substitute another class of drugs for the neuroleptic. Anesthesia may be a risk to individuals who have experienced neuroleptic malignant syndrome.",30831 Does galectin-3 Blockade reduce Renal Fibrosis in Two Normotensive Experimental Models of Renal Damage?,"In experimental models of mild kidney damage, the increase in renal Gal-3 expression paralleled with renal fibrosis, inflammation and damage, while these alterations were prevented by Gal-3 blockade. These data suggest that Gal-3 could be a new player in renal molecular, histological and functional alterations at early stages of kidney damage.",30832 Does aflatoxin exposure in utero cause growth faltering in Gambian infants?,This study shows a strong effect of maternal aflatoxin exposure during pregnancy on growth in the first year of life and thus extends earlier observations of an association between aflatoxin exposure during infancy and growth faltering. The findings imply value in targeting intervention strategies at early life exposures.,30833 Is elevated Serum Concentration of Chitinase 3-Like 1 an Independent Prognostic Biomarker for Poor Survival in Lung Cancer Patients?,Our results suggest that elevated serum CHI3L1 concentration is an independent prognostic biomarker for poorer survival in lung cancer patients.,30834 What are the symptoms of Borjeson-Forssman-Lehmann syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Borjeson-Forssman-Lehmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Broad foot 90% Camptodactyly of toe 90% Coarse facial features 90% Cognitive impairment 90% Cryptorchidism 90% Gynecomastia 90% Hypoplasia of penis 90% Large earlobe 90% Muscular hypotonia 90% Scrotal hypoplasia 90% Short toe 90% Tapered finger 90% Truncal obesity 90% Blepharophimosis 50% Deeply set eye 50% Prominent supraorbital ridges 50% Ptosis 50% Thick eyebrow 50% Abnormality of the hip bone 7.5% Cataract 7.5% Hearing impairment 7.5% Joint hypermobility 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Oral cleft 7.5% Peripheral neuropathy 7.5% Seizures 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Cervical spinal canal stenosis - Delayed puberty - EEG abnormality - Hypoplasia of the prostate - Intellectual disability, severe - Kyphosis - Macrotia - Micropenis - Obesity - Scheuermann-like vertebral changes - Scoliosis - Shortening of all distal phalanges of the fingers - Shortening of all middle phalanges of the fingers - Thickened calvaria - Visual impairment - Widely spaced toes - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30835 How to diagnose Spinocerebellar ataxia 2 ?,"Yes. Molecular genetic testing (analysis of DNA) is needed for a diagnosis of spinocerebellar ataxia 2 (SCA2). This testing detects abnormal CAG trinucleotide repeat expansions in the ATXN2 gene. Affected people (or people who will later develop symptoms of SCA2) have a copy of the ATXN2 gene that has 33 or more CAG repeats. This testing detects nearly 100% of cases of SCA2. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for SCA2. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",30836 What are the stages of Adult Non-Hodgkin Lymphoma ?,"Key Points - After adult non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of adult non-Hodgkin lymphoma may include E and S. - The following stages are used for adult non-Hodgkin lymphoma: - Stage I - Stage II - Stage III - Stage IV - Adult non-Hodgkin lymphomas may be grouped for treatment according to whether the cancer is indolent or aggressive and whether affected lymph nodes are next to each other in the body. After adult non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. The process used to find out the type of cancer and if cancer cells have spread within the lymph system or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage of the disease in order to plan treatment. The results of the tests and procedures done to diagnose non-Hodgkin lymphoma are used to help make decisions about treatment. The following tests and procedures may also be used in the staging process: - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the lung, lymph nodes, and liver, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. For pregnant women with non-Hodgkin lymphoma, staging tests and procedures that protect the baby from the harms of radiation are used. These tests and procedures include MRI, bone marrow aspiration and biopsy, lumbar puncture, and ultrasound. An ultrasound exam is a procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Stages of adult non-Hodgkin lymphoma may include E and S. Adult non-Hodgkin lymphoma may be described as follows: - E: ""E"" stands for extranodal and means the cancer is found in an area or organ other than the lymph nodes or has spread to tissues beyond, but near, the major lymphatic areas. - S: ""S"" stands for spleen and means the cancer is found in the spleen. The following stages are used for adult non-Hodgkin lymphoma: Stage I Stage I adult non-Hodgkin lymphoma is divided into stage I and stage IE. - Stage I: Cancer is found in one lymphatic area (lymph node group, tonsils and nearby tissue, thymus, or spleen). - Stage IE: Cancer is found in one organ or area outside the lymph nodes. Stage II Stage II adult non-Hodgkin lymphoma is divided into stage II and stage IIE. - Stage II: Cancer is found in two or more lymph node groups either above or below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIE: Cancer is found in one or more lymph node groups either above or below the diaphragm. Cancer is also found outside the lymph nodes in one organ or area on the same side of the diaphragm as the affected lymph nodes. Stage III Stage III adult non-Hodgkin lymphoma is divided into stage III, stage IIIE, stage IIIS, and stage IIIE+S. - Stage III: Cancer is found in lymph node groups above and below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIIE: Cancer is found in lymph node groups above and below the diaphragm and outside the lymph nodes in a nearby organ or area. - Stage IIIS: Cancer is found in lymph node groups above and below the diaphragm, and in the spleen. - Stage IIIE+S: Cancer is found in lymph node groups above and below the diaphragm, outside the lymph nodes in a nearby organ or area, and in the spleen. Stage IV In stage IV adult non-Hodgkin lymphoma, the cancer: - is found throughout one or more organs that are not part of a lymphatic area (lymph node group, tonsils and nearby tissue, thymus, or spleen), and may be in lymph nodes near those organs; or - is found in one organ that is not part of a lymphatic area and has spread to organs or lymph nodes far away from that organ; or - is found in the liver, bone marrow, cerebrospinal fluid (CSF), or lungs (other than cancer that has spread to the lungs from nearby areas). Adult non-Hodgkin lymphomas may be grouped for treatment according to whether the cancer is indolent or aggressive and whether affected lymph nodes are next to each other in the body. See the General Information section for more information on the types of indolent (slow-growing) and aggressive (fast-growing) non-Hodgkin lymphoma. Non-Hodgkin lymphoma can also be described as contiguous or noncontiguous: - Contiguous lymphomas: Lymphomas in which the lymph nodes with cancer are next to each other. - Noncontiguous lymphomas: Lymphomas in which the lymph nodes with cancer are not next to each other, but are on the same side of the diaphragm.",30837 Do retrospective review of a tertiary adult burn centre 's experience with modified Meek grafting?,"Modified Meek grafting is a useful method of skin expansion. Similar to any other grafting technique, infection needs to be sought and treated promptly. It is recommended for larger burns where donor sites are not adequate or where it is desirable to limit their extent.",30838 Is poor outcome in chronic schizophrenia associated with progressive loss of volume of the putamen?,Volumes of the putamen may represent a longitudinal marker of treatment responsiveness and outcome in patients with chronic schizophrenia.,30839 What is (are) 15q13.3 microduplication syndrome ?,"15q13.3 microduplication syndrome is a rare chromosome abnormality first described in 2009. Since only a small number of individuals with this microduplication have been reported, the full range of effects is still being discovered. What is known is that the symptoms are variable, even between members of the same family. While some people with this microduplication do not have symptoms, several features seem to be common, including delayed development, intellectual disability, communication difficulties, emotional and behavioral problems (including autistic spectrum disorders), insomnia, and seizures. 15q13.3 microduplication syndrome is caused by a tiny duplication (microduplication) on the long arm of chromosome 15 that spans at least 6 genes. The features of this syndrome are thought to be caused by the presence of three copies of the genes in this region, instead of the normal two. However, it is unclear which genes contribute to the specific features. In addition, it is likely that other genetic or environmental factors influence the symptoms seen in this condition. Some cases of 15q13.3 microduplication syndrome are inherited in an autosomal dominant manner with reduced penetrance. Other cases are new (de novo). Treatment typically focuses on treating the symptoms (such as medication for seizures).",30840 What is (are) VIPoma ?,"VIPoma is a rare cancer that develops within the pancreas. This tumor causes pancreatic cells to produce high levels of a hormone called vasoactive intestinal peptide (VIP). The signs and symptoms of a VIPoma include abdominal pain, flushing or redness of the face, nausea, watery diarrhea, weight loss, dehydration, and low blood potassium (hypokalemia). VIPomas are usually diagnosed in adults around age 50. The cause of VIPoma is unknown. Treatment may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor.",30841 Does retroviral vector-producer cell mediated angiogenesis inhibition restrict neuroblastoma growth in vivo?,Neuroblastoma growth can be significantly restricted in vivo with a single injection of cells that produce a retroviral vector encoding the gene for an angiogenesis inhibitor. This suggests that gene therapy-mediated delivery can be an effective alternative to chronic administration of these cytostatic anticancer agents.,30842 What is (are) Short Bowel Syndrome ?,"Short bowel syndrome is a group of problems related to poor absorption of nutrients. Short bowel syndrome typically occurs in people who have - had at least half of their small intestine removed and sometimes all or part of their large intestine removed - significant damage of the small intestine - poor motility, or movement, inside the intestines Short bowel syndrome may be mild, moderate, or severe, depending on how well the small intestine is working. People with short bowel syndrome cannot absorb enough water, vitamins, minerals, protein, fat, calories, and other nutrients from food. What nutrients the small intestine has trouble absorbing depends on which section of the small intestine has been damaged or removed.",30843 What is (are) Chiari malformation type 2 ?,"Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry. Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life. The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine. The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations.",30844 Is interleukin-10 a protective factor against diet-induced insulin resistance in liver?,"Thus, in an animal model of diet-induced fatty liver disease, the inhibition of IL-10 promotes the increased expression of inflammatory cytokines, the worsening of insulin signaling and the activation of gluconeogenic and lipidogenic pathways.",30845 Does combination of two urinary biomarkers predict acute kidney injury after adult cardiac surgery?,"When urinary L-FABP and NAG are combined, they can detect AKI adequately, even in a heterogeneous population of adult post-cardiac surgery AKI. Combining 2 markers with different sensitivity and specificity presents a reasonable strategy to improve the diagnostic performance of biomarkers.",30846 Does resistin expression correlate with steatohepatitis in morbidly obese patients?,"In morbidly obese patients, high resistin expression in serum is associated with hepatic steatosis, inflammation, and fibrosis. The development of elevated resistin expression may represent a link between obesity and the onset of steatohepatitis.",30847 What is (are) Scleroderma ?,"Scleroderma means hard skin. It is a group of diseases that cause abnormal growth of connective tissue. Connective tissue is the material inside your body that gives your tissues their shape and helps keep them strong. In scleroderma, the tissue gets hard or thick. It can cause swelling or pain in your muscles and joints. Symptoms of scleroderma include - Calcium deposits in connective tissues - Raynaud's phenomenon, a narrowing of blood vessels in the hands or feet - Swelling of the esophagus, the tube between your throat and stomach - Thick, tight skin on your fingers - Red spots on your hands and face No one knows what causes scleroderma. It is more common in women. It can be mild or severe. Doctors diagnose scleroderma using your medical history, a physical exam, lab tests, and a skin biopsy. There is no cure, but various treatments can control symptoms and complications. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",30848 What are the treatments for sensorineural deafness and male infertility ?,"These resources address the diagnosis or management of sensorineural deafness and male infertility: - Cleveland Clinic: Male Infertility - Gene Review: Gene Review: CATSPER-Related Male Infertility - Genetic Testing Registry: Deafness, sensorineural, and male infertility - MedlinePlus Health Topic: Assisted Reproductive Technology - RESOLVE: The National Infertility Association: Semen Analysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",30849 Are iGF-1 Levels Inversely Associated With Metabolic Syndrome in Obstructive Sleep Apnea?,The occurrence of OSA is associated with a reduction in IGF-1 levels. IGF-1 alterations in OSA also seem to be associated with a higher prevalence of MS.,30850 Does group aquatic training improve gait efficiency in adolescents with cerebral palsy?,Group aquatic training increases gait efficiency in adolescents with CP. This improvement is related to systemic cardiorespiratory adaptations. Group aquatic training programme is feasible in adolescents presenting CP at different levels of severity.,30851 Does antidepressant treatment reduce serotonin-1A autoreceptor binding in major depressive disorder?,Downregulation of 5-HT1A autoreceptor binding by SSRI treatment of major depression is consistent with animal studies. This may be a necessary but insufficient requirement for clinical response to SSRIs. A PET agonist ligand that binds selectively to the high-affinity conformation of this receptor can determine whether SSRIs also cause desensitization of the autoreceptor as reported by some rodent studies and whether that effect may be related to clinical response.,30852 Does implementation of free cotrimoxazole prophylaxis improve clinic retention among antiretroviral therapy-ineligible clients in Kenya?,"Provision of free CTX was associated with significantly improved retention among ART-ineligible clients. Retention and CD4-monitoring of ART-ineligible clients are essential to promptly identify ART eligibility and provide treatment. Implementation of free CTX may improve retention in sub-Saharan Africa and, via increasing timely ART initiation, provide survival benefit.",30853 Do adolescent Women Induce Lower Blood Alcohol Levels Than Men in a Laboratory Alcohol Self-Administration Experiment?,"We conclude that adolescent women chose lower aBACs because they experienced adverse alcohol effects, namely sedation and negative effects, at lower aBACs than men. A positive FH was not apparent as risk factor for drinking in our young sample. The i.v. ASA method demonstrated good external validity as well as test-retest reliability, the latter indicating that a separate training session is not required when employing the i.v. ASA paradigm.",30854 Does a single night of partial sleep deprivation induce insulin resistance in multiple metabolic pathways in healthy subjects?,Partial sleep deprivation during only a single night induces insulin resistance in multiple metabolic pathways in healthy subjects. This physiological observation may be of relevance for variations in glucoregulation in patients with type 1 and type 2 diabetes.,30855 Is pDK1 a potential therapeutic target against angiosarcoma cells?,"These data showed that PDK1 played a pivotal role in the growth of angiosarcoma cells. Therefore, inhibition of PDK1, but not AKT, may be a more appropriate strategy than that of mTORC1 for the treatment of cutaneous angiosarcoma; the PDK1 inhibitor is promising as a therapeutic agent.",30856 Does systemic administration of phenyl-N-tert-butylnitrone protect the retina from light damage?,PBN protects the albino rat retina from the damaging effects of constant light stress. That light-induced and hereditary retinal degenerations share certain morphologic hallmarks and follow a similar apoptotic mechanism of degeneration raises the possibility of pharmacologic therapy for hereditary and environmentally induced neurodegenerative disorders.,30857 Does eldecalcitol normalize bone turnover markers regardless of their pre-treatment levels?,"Eldecalcitol normalizes, but does not overly suppress, bone turnover regardless of baseline levels of bone turnover markers. Thus, it is unlikely that eldecalcitol treatment will increase the risk of severely suppressed bone turnover and therefore deterioration of bone quality, at least for a treatment duration of 3 years.",30858 what research (or clinical trials) is being done for Shaken Baby Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to shaken baby syndrome in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat and heal medical conditions such as shaken baby syndrome.",30859 Do technical player profiles related to the physical fitness of young female volleyball players predict team performance?,"The current study findings may enable coaches and trainers to manage training programs more efficiently in order to obtain tailor-made training, identify volleyball-specific physical fitness training requirements and reach better results during competitions.",30860 Is Beckwith-Wiedemann syndrome inherited ?,"In about 85 percent of cases of Beckwith-Wiedemann syndrome, only one person in a family has been diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children with the disorder. This risk depends on the genetic cause of the condition. Another 10 to 15 percent of people with Beckwith-Wiedemann syndrome are part of families with more than one affected family member. In most of these families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is typically sufficient to cause the disorder. In most of these cases, individuals with Beckwith-Wiedemann syndrome inherit the genetic change from their mothers. Occasionally, a person who inherits the altered gene will not have any of the characteristic signs and symptoms of the condition. Rarely, Beckwith-Wiedemann syndrome results from changes in the structure of chromosome 11. Some of these chromosomal abnormalities are inherited from a parent, while others occur as random events during the formation of reproductive cells (eggs and sperm) or in the earliest stages of development before birth.",30861 Does light touch cue through a cane improve pelvic stability during walking in stroke?,A light touch cue can be provided during walking through the use of a cane. This augmented somatosensory information provides lateral stability during walking for subjects with stroke by facilitating the activations of weight-bearing muscles on the paretic leg during the stance phase.,30862 What is (are) Glioma ?,"Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called astrocytes Ependymomas - tumors that arise from ependymal cells that line the ventricles of the brain and the center of the spinal cord Oligodendrogliomas - tumors that affect the oligodendrocytes The symptoms of glioma vary by type but may include headaches; nausea and vomiting; confusion; personality changes; trouble with balance; vision problems; speech difficulties; and/or seizures. The exact underlying cause is unknown. In most cases, the tumor occurs sporadically in people with no family history of the condition. Treatment depends on many factors, including the type, size, stage and location of the tumor, but may include surgery, radiation therapy, chemotherapy and/or targeted therapy.",30863 "What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 4 ?","The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Muscular hypotonia 5% Seizures 5% Anemia 7/7 Hepatomegaly 7/7 Hypertriglyceridemia 5/5 Splenomegaly 7/7 Hemophagocytosis 6/7 Thrombocytopenia 6/7 Increased serum ferritin 3/4 Neutropenia 5/7 Hypofibrinogenemia 3/5 Autosomal recessive inheritance - Fever - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30864 Is ralstonia solanacearum fatty acid composition determined by interaction of two 3-ketoacyl-acyl carrier protein reductases encoded on separate replicons?,"R. solanacearum encodes two 3-ketoacyl-ACP reductases that both have functions in fatty acid synthesis. We supply the first evidence that, like other enzymes in the bacterial fatty acid biosynthetic pathway, one bacterium may simultaneously possess two or more 3-oxoacyl-ACP reductase isozymes.",30865 Does cD22 ligation inhibit downstream B cell receptor signaling and Ca ( 2+ ) flux upon activation?,"These findings are consistent with the concept of targeting CD22 to raise the threshold of BCR activation, which could offer therapeutic benefit in patients with autoimmune diseases.",30866 Are serum prosaposin levels increased in patients with advanced prostate cancer?,Our results show that PSAP has the potential to differentiate between primary and advanced PCa. Additional large-scale studies are needed to define the usefulness of tissue expression or serum PSAP levels as a diagnostic or prognostic marker or as a therapeutic target in PCa.,30867 Does lysophosphatidic acid provide a missing link between osteoarthritis and joint neuropathic pain?,"Intra-articular injection of LPA caused knee joint neuropathy, joint damage and pain. Pharmacological blockade of LPA receptors inhibited joint nerve damage and hindlimb incapacitance. Thus, LPA is a candidate molecule for the development of OA nerve damage and the origin of joint neuropathic pain.",30868 What is (are) atelosteogenesis type 2 ?,"Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.",30869 What are the treatments for Thrombocythemia and Thrombocytosis ?,"Primary Thrombocythemia This condition is considered less harmful today than in the past, and its outlook often is good. People who have no signs or symptoms don't need treatment, as long as the condition remains stable. Taking aspirin may help people who are at risk for blood clots (aspirin thins the blood). However, talk with your doctor about using aspirin because it can cause bleeding. Doctors prescribe aspirin to most pregnant women who have primary thrombocythemia. This is because it doesn't have a high risk of side effects for the fetus. Some people who have primary thrombocythemia may need medicines or medical procedures to lower their platelet counts. Medicines To Lower Platelet Counts You may need medicines to lower your platelet count if you: Have a history of blood clots or bleeding Have risk factors for heart disease, such as high blood cholesterol, high blood pressure, or diabetes Are older than 60 Have a platelet count over 1 million You'll need to take these medicines throughout your life. Hydroxyurea. This platelet-lowering medicine is used to treat cancers and other life-threatening diseases. Hydroxyurea most often is given under the care of doctors who specialize in cancer or blood diseases. Patients on hydroxyurea are closely monitored. Currently, hydroxyurea plus aspirin is the standard treatment for people who have primary thrombocythemia and are at high risk for blood clots. Anagrelide. This medicine also has been used to lower platelet counts in people who have thrombocythemia. However, research shows that when compared with hydroxyurea, anagrelide has worse outcomes. Anagrelide also has side effects, such as fluid retention, palpitations (pal-pih-TA-shuns), arrhythmias (ah-RITH-me-ahs), heart failure, and headaches. Interferon alfa. This medicine lowers platelet counts, but 20 percent of patients can't handle its side effects. Side effects include a flu-like feeling, decreased appetite, nausea (feeling sick to the stomach), diarrhea, seizures, irritability, and sleepiness. Doctors may prescribe this medicine to pregnant women who have primary thrombocythemia because it's safer for a fetus than hydroxyurea and anagrelide. Plateletpheresis Plateletpheresis (PLATE-let-fe-REH-sis) is a procedure used to rapidly lower your platelet count. This procedure is used only for emergencies. For example, if you're having a stroke due to primary thrombocythemia, you may need plateletpheresis. An intravenous (IV) needle that's connected to a tube is placed in one of your blood vessels to remove blood. The blood goes through a machine that removes platelets from the blood. The remaining blood is then put back into you through an IV line in one of your blood vessels. One or two procedures might be enough to reduce your platelet count to a safe level. Secondary Thrombocytosis Secondary thrombocytosis is treated by addressing the condition that's causing it. People who have secondary thrombocytosis usually don't need platelet-lowering medicines or procedures. This is because their platelets usually are normal (unlike in primary thrombocythemia). Also, secondary thrombocytosis is less likely than primary thrombocythemia to cause serious problems related to blood clots and bleeding.",30870 What is (are) Ellis-van Creveld syndrome ?,"Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems. The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. The two conditions are caused by mutations in the same genes.",30871 What are the genetic changes related to Roberts syndrome ?,"Mutations in the ESCO2 gene cause Roberts syndrome. This gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The ESCO2 protein plays an important role in establishing the glue that holds the sister chromatids together until the chromosomes are ready to separate. All identified mutations in the ESCO2 gene prevent the cell from producing any functional ESCO2 protein, which causes some of the glue between sister chromatids to be missing around the chromosome's constriction point (centromere). In Roberts syndrome, cells respond to abnormal sister chromatid attachment by delaying cell division. Delayed cell division can be a signal that the cell should undergo self-destruction. The signs and symptoms of Roberts syndrome may result from the loss of cells from various tissues during early development. Because both mildly and severely affected individuals lack any functional ESCO2 protein, the underlying cause of the variation in disease severity remains unknown. Researchers suspect that other genetic and environmental factors may be involved.",30872 What are the symptoms of Hurler syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Hurler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tonsils 90% Anteverted nares 90% Cerebral palsy 90% Coarse facial features 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Full cheeks 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Hypertrophic cardiomyopathy 90% Large face 90% Mucopolysacchariduria 90% Muscular hypotonia 90% Short neck 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Thick eyebrow 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of finger 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Abnormality of the tongue 50% Dolichocephaly 50% Glaucoma 50% Hearing impairment 50% Hydrocephalus 50% Hypertension 50% Malabsorption 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Retinopathy 50% Scoliosis 50% Short stature 50% Sleep disturbance 50% Thick lower lip vermilion 50% C1-C2 subluxation 38% Abnormal pyramidal signs 7.5% Abnormality of skin pigmentation 7.5% Coronary artery disease 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Spinal canal stenosis 7.5% Retinal degeneration 5% Mitral regurgitation 10/12 Aortic regurgitation 4/12 Recurrent respiratory infections 4/12 Endocardial fibroelastosis 11/58 Abnormal CNS myelination - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad nasal tip - Calvarial hyperostosis - Cardiomyopathy - Coxa valga - Diaphyseal thickening - Dysostosis multiplex - Flared iliac wings - Flexion contracture - Gingival overgrowth - Hepatosplenomegaly - Hirsutism - Hypoplasia of the femoral head - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - Joint stiffness - J-shaped sella turcica - Kyphosis - Macrocephaly - Microdontia - Neurodegeneration - Progressive neurologic deterioration - Short clavicles - Thick vermilion border - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30873 What are the treatments for Treatment Methods for Kidney Failure: Peritoneal Dialysis ?,"Your health care team will perform several tests to tell if your dialysis exchanges are removing enough wastes. These tests are especially important during the first weeks of treatment to determine whether your schedule is adequate. Peritoneal Equilibration Test For a peritoneal equilibration test, a dialysis nurse takes samples of your blood and dialysis solution during a 4-hour exchange. The peritoneal equilibration test measures how much dextrose your body absorbs from a bag of dialysis solution. The peritoneal equilibration test also measures how much urea and creatininewaste products of normal muscle and protein breakdownmove from your blood into the dialysis solution. Clearance Test For a clearance test, you will collect the used dialysis solution from a 24-hour period. A dialysis nurse takes a blood sample during the same 24-hour period. Your doctor or nurse compares the amount of urea in the used solution with the amount in your blood to see how much urea was removed. For the first months or even years of peritoneal dialysis treatment, you may still produce small amounts of urine. If you produce more than 100 milliliters (3 ounces) of urine per day, you will also collect your urine to measure its urea content. From the measurements of used solution, blood, and, if available, urine, your health care team can determine your urea clearancea measurement doctors call your Kt/Vand your creatinine clearance rate. These measurements will show whether you are using the right peritoneal dialysis schedule and doses. If your dialysis schedule is not removing enough wastes, your doctor will make adjustments. More information is provided in the NIDDK health topic, Peritoneal Dialysis Dose and Adequacy.",30874 Is the capsaicin-sensitive afferent neuron in skeletal muscle abnormal in heart failure?,"These findings suggest that EPR dysfunction in heart failure results in part from functional and molecular alterations in group IV fibers. Furthermore, the responsiveness of these metabolically sensitive neurons appears to be blunted in DCM, indicating that their contribution to the EPR may be reduced. This occurs despite an overall exaggeration of the EPR in heart failure. These insights into the basic mechanisms of EPR dysfunction are essential to the development of effective therapeutic strategies aimed at improving exercise capacity in heart failure.",30875 What is (are) Leishmaniasis ?,"Leishmaniasis is a parasitic disease spread by the bite of infected sand flies. There are several different forms of leishmaniasis. The most common are cutaneous and visceral. The cutaneous type causes skin sores. The visceral type affects internal organs such as the spleen, liver, and bone marrow. People with this form usually have fever, weight loss, and an enlarged spleen and liver. Leishmaniasis is found in parts of about 88 countries. Most of these countries are in the tropics and subtropics. It is possible but very unlikely that you would get this disease in the United States. But you should be aware of it if you are traveling to the Middle East or parts of Central America, South America, Asia, Africa or southern Europe. Treatment is with medicines that contain antimony, a type of metal, or with strong antibiotics. The best way to prevent the disease is to protect yourself from sand fly bites: - Stay indoors from dusk to dawn, when sand flies are the most active - Wear long pants and long-sleeved shirts when outside - Use insect repellent and bed nets as needed Centers for Disease Control and Prevention",30876 What are the symptoms of Hypomagnesemia 6 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Headache - Hypomagnesemia - Muscle weakness - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30877 Do expanded measurements of intra-abdominal pressure increase the detection rate of intra-abdominal hypertension : a single-center observational study?,"Expanding the measurement of intra-abdominal pressure to more than 50% of intensive care admissions does not increase the detection rate of intra-abdominal hypertension. In patients with intra-abdominal pressure monitoring, the mean intra-abdominal pressure on the admission day is an independent predictor of mortality.",30878 Is adverse neurodevelopment in preterm infants with postnatal sepsis or necrotizing enterocolitis mediated by white matter abnormalities on magnetic resonance imaging at term?,"Preterm infants with sepsis/NEC are at greater risk of motor impairment at 2 years, which appears to be mediated by WMA. These findings may assist in defining a neuroprotective target in preterm infants with sepsis/NEC.",30879 Is photoreceptor structure and function maintained in organotypic cultures of mouse retinas?,Mouse retinal structure is maintained in retina-RPE organ cultures. The RPE in organ cultures produces sufficient amounts of 11-cis retinal to promote cone development and support signal transmission in the rod pathway. Organ cultures may be a powerful low-throughput screening tool to identify novel agents to promote photoreceptor cell survival and signaling.,30880 Does the protein binding substance ibuprofen affect the T1 time or partition coefficient in contrast-enhanced cardiovascular magnetic resonance?,Contrast enhanced T1 mapping is unaffected by co-medication with the protein binding substance ibuprofen and has an excellent reproducibility.,30881 Is adult polyglucosan body disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",30882 What are the treatments for Coffin-Lowry syndrome ?,These resources address the diagnosis or management of Coffin-Lowry syndrome: - Gene Review: Gene Review: Coffin-Lowry Syndrome - Genetic Testing Registry: Coffin-Lowry syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30883 Does gum chewing stimulate bowel motility in patients undergoing radical cystectomy with urinary diversion?,Gum chewing may speed the recovery of bowel function after cystectomy and diversion. These findings are consistent with outcomes in the colorectal surgery published data that support the use of chewing gum as an easy and inexpensive way to enhance recovery after surgery.,30884 Do biliary structures lead to tumour recurrences after laser-induced interstitial thermotherapy?,"Biliary ducts lead to a heat sink, thereby facilitating tumour recurrences.",30885 Is permanent neonatal diabetes mellitus inherited ?,"Permanent neonatal diabetes mellitus can have different inheritance patterns. When this condition is caused by mutations in the KCNJ11 or INS gene it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 90 percent of these cases, the condition results from new mutations in the gene and occurs in people with no history of the disorder in their family. In the remaining cases, an affected person inherits the mutation from one affected parent. When permanent neonatal diabetes mellitus is caused by mutations in the ABCC8 gene, it may be inherited in either an autosomal dominant or autosomal recessive pattern. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Less commonly the condition is caused by mutations in other genes, and in these cases it is also inherited in an autosomal recessive pattern.",30886 Is iL-15 elevated in serum and cerebrospinal fluid of patients with multiple sclerosis?,Our findings suggest a possible role of IL-15 in the immunopathogenetic mechanisms of MS.,30887 Does desmopressin decrease blood loss and transfusion requirements in patients undergoing hepatectomy?,Desmopressin did not reduce intraoperative blood loss or transfusion requirements during hepatectomy despite raising clotting factor levels and improving tests of hemostasis.,30888 Is alpha thalassemia inherited ?,"The inheritance of alpha thalassemia is complex. Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected.",30889 Does thromboxane A synthase enhance blood flow recovery from hindlimb ischemia?,These results indicated that local administration of C57-mTXAS-induced angiogenesis by activated platelets that bind to PSGL-1 on ischemic endothelial cells.,30890 Is factor V Leiden thrombophilia inherited ?,"The chance of developing an abnormal blood clot depends on whether a person has one or two copies of the factor V Leiden mutation in each cell. People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that about 1 in 1,000 people per year in the general population will develop an abnormal blood clot, the presence of one copy of the factor V Leiden mutation increases that risk to 3 to 8 in 1,000, and having two copies of the mutation may raise the risk to as high as 80 in 1,000.",30891 What is (are) carnitine palmitoyltransferase I deficiency ?,"Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals. Signs and symptoms of CPT I deficiency often appear during early childhood. Affected individuals usually have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CPT I deficiency can also have an enlarged liver (hepatomegaly), liver malfunction, and elevated levels of carnitine in the blood. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, seizures, coma, and sudden death. Problems related to CPT I deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",30892 How to diagnose Freiberg's disease ?,"A diagnosis of Freiberg's disease is often suspected based on the presence of characteristic signs and symptoms. An X-ray, magnetic resonance imaging (MRI), and/or bone scan can then be ordered to confirm the diagnosis. Other testing such as laboratory studies may also be recommended to rule out other conditions that cause similar features.",30893 What are the genetic changes related to pyridoxine-dependent epilepsy ?,"Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. The ALDH7A1 gene provides instructions for making an enzyme called -aminoadipic semialdehyde (-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. When antiquitin is deficient, a molecule that interferes with vitamin B6 function builds up in various tissues. Pyridoxine plays a role in many processes in the body, such as the breakdown of amino acids and the productions of chemicals that transmit signals in the brain (neurotransmitters). It is unclear how a lack of pyridoxine causes the seizures that are characteristic of this condition. Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown.",30894 Is glycogen storage disease type VI inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",30895 Does expression of the bric-a-brac tramtrack broad complex protein NAC-1 in cervical carcinomas seem to correlate with poorer prognosis?,"Our findings suggest that NAC-1 may play an important role in cervical carcinomas; moreover, these findings provide a rationale for future development of NAC-1-based therapy for cervical carcinomas that overexpress this candidate oncogene.",30896 What is the outlook for Thyrotoxic Myopathy ?,"With treatment, muscle weakness may improve or be reversed.",30897 What are the symptoms of Holt-Oram syndrome ?,"People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present. Additional bone abnormalities may also be present, such as a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades. About 75% of affected people have heart problems, which can be life-threatening. The most common problems are an atrial septal defect (ASD) and a ventricular septal defect (VSD). Some people have cardiac conduction disease, which is caused by abnormalities in the electrical system that coordinates contractions of the heart chambers. Cardiac conduction disease can lead to problems such as a slower-than-normal heart rate (bradycardia) or a rapid and uncoordinated contraction of the heart muscle (fibrillation). The features of Holt-Oram syndrome are similar to those of a condition called Duane-radial ray syndrome but these two disorders are caused by mutations in different genes. The Human Phenotype Ontology provides the following list of signs and symptoms for Holt-Oram syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the wrist 90% Abnormality of the metacarpal bones 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Arrhythmia 50% Atria septal defect 50% Triphalangeal thumb 50% Ventricular septal defect 50% Hypoplasia of the radius 37.8% Phocomelia 11% Abnormality of the aorta 7.5% Abnormality of the humerus 7.5% Abnormality of the ribs 7.5% Abnormality of the shoulder 7.5% Abnormality of the sternum 7.5% Anomalous pulmonary venous return 7.5% Aplasia of the pectoralis major muscle 7.5% Complete atrioventricular canal defect 7.5% Finger syndactyly 7.5% Hypoplastic left heart 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Radioulnar synostosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Thoracic scoliosis 7.5% Abnormality of the carpal bones - Abnormality of the vertebrae - Absent thumb - Autosomal dominant inheritance - Partial duplication of thumb phalanx - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30898 What is (are) Anemia in Chronic Kidney Disease ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. Healthy kidneys produce a hormone called erythropoietin (EPO). A hormone is a chemical produced by the body and released into the blood to help trigger or regulate particular body functions. EPO prompts the bone marrow to make red blood cells, which then carry oxygen throughout the body.",30899 How many people are affected by atopic dermatitis ?,Atopic dermatitis is a common disorder that affects 10 to 20 percent of children and 5 to 10 percent of adults.,30900 Do fishery-independent data reveal negative effect of human population density on Caribbean predatory fish communities?,"Complete disappearance of several large-bodied fishes indicates ecological and local extinctions have occurred in some densely populated areas. These findings fill a fundamentally important gap in our knowledge of the ecosystem effects of artisanal fisheries in developing nations, and provide support for multiple approaches to data collection where they are commonly unavailable.",30901 Does piracetam improve activated blood flow and facilitates rehabilitation of poststroke aphasic patients?,"Piracetam as an adjuvant to speech therapy improves recovery of various language functions, and this effect is accompanied by a significant increase of task-related flow activation in eloquent areas of the left hemisphere.",30902 What are the symptoms of Uterine Sarcoma ?,Signs of uterine sarcoma include abnormal bleeding. Abnormal bleeding from the vagina and other signs and symptoms may be caused by uterine sarcoma or by other conditions. Check with your doctor if you have any of the following: - Bleeding that is not part of menstrual periods. - Bleeding after menopause. - A mass in the vagina. - Pain or a feeling of fullness in the abdomen. - Frequent urination.,30903 Does effects of perfusion on DTI and DKI estimate in the skeletal muscle?,"Blood perfusion has an effect on DTI and DKI estimations, but it can be minimized with IVIM correction or multishell acquisition strategies. © 2016 International Society for Magnetic Resonance in Medicine.",30904 Is 47 XXX syndrome inherited ?,"Most cases of 47 XXX syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells. 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in the early development of an embryo. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX). Transmission of an abnormal number of X chromosomes from women with 47 XXX syndrome is rare, although it has been reported. Some reports suggest a <5% increased risk for a chromosomally abnormal pregnancy, and other more recent reports suggest that <1% may be more accurate. These risks are separate from the risks of having a chromosomally abnormal pregnancy due to maternal age or any other factors. Furthermore, these risks generally apply only to women with non-mosaic 47 XXX syndrome, as mosaicism may increase the risk of passing on an abnormal number of X chromosomes and potential outcomes. Each individual with 47 XXX syndrome who is interested in learning about their own risks to have a child with a chromosome abnormality or other genetic abnormality should speak with their healthcare provider or a genetics professional.",30905 What are the symptoms of Gum (Periodontal) Disease ?,People are not often aware they have gum disease until it is advanced. Any of these symptoms may be a sign of a serious problem and should be checked by a dentist. - bad breath that won't go away - red or swollen gums - tender or bleeding gums - painful chewing - loose teeth - sensitive teeth - receding gums or longer appearing teeth bad breath that won't go away red or swollen gums tender or bleeding gums painful chewing loose teeth sensitive teeth receding gums or longer appearing teeth Sometimes gum disease has no clear symptoms.,30906 What are the genetic changes related to Cohen syndrome ?,"Mutations in the VPS13B gene (frequently called the COH1 gene) cause Cohen syndrome. The function of the protein produced from the VPS13B gene is unknown; however, researchers suggest it may be involved in sorting and transporting proteins inside the cell. Most mutations in the VPS13B gene are believed to prevent cells from producing a functional VPS13B protein. It is unclear how loss of functional VPS13B protein leads to the signs and symptoms of Cohen syndrome.",30907 What are the treatments for Cholesteatoma ?,"An examination by an otolaryngologist - a doctor who specializes in head and neck conditions - can confirm the presence of a cholesteatoma. Initial treatment may consist of a careful cleaning of the ear, antibiotics, and eardrops. Therapy aims to stop drainage in the ear by controlling the infection. Large or complicated cholesteatomas may require surgical treatment to protect the patient from serious complications.",30908 How to prevent Stroke ?,"Stroke is preventable and treatable. A better understanding of the causes of stroke has helped people make lifestyle changes that have cut the stroke death rate nearly in half in the last two decades. Preventing Stroke While family history of stroke plays a role in your risk, there are many risk factors you can control: - If you have high blood pressure, work with your doctor to get it under control. - If you smoke, quit. - If you have diabetes, learn how to manage it. Many people do not realize they have diabetes, which is a major risk factor for heart disease and stroke. - If you are overweight, start maintaining a healthy diet and exercising regularly. - If you have high cholesterol, work with your doctor to lower it. A high level of total cholesterol in the blood is a major risk factor for heart disease, which raises your risk of stroke. If you have high blood pressure, work with your doctor to get it under control. If you smoke, quit. If you have diabetes, learn how to manage it. Many people do not realize they have diabetes, which is a major risk factor for heart disease and stroke. If you are overweight, start maintaining a healthy diet and exercising regularly. If you have high cholesterol, work with your doctor to lower it. A high level of total cholesterol in the blood is a major risk factor for heart disease, which raises your risk of stroke. Diagnosing Stroke Physicians have several diagnostic techniques and imaging tools to help diagnose stroke quickly and accurately. The first step in diagnosis is a short neurological examination, or an evaluation of the nervous system. When a possible stroke patient arrives at a hospital, a health care professional, usually a doctor or nurse, will ask the patient or a companion what happened and when the symptoms began. Blood tests, an electrocardiogram, and a brain scan such as computed tomography or CT, or magnetic resonance imaging or MRI, will often be done. Measuring Stroke Severity One test that helps doctors judge the severity of a stroke is the standardized NIH Stroke Scale, developed by the National Institute of Neurological Disorders and Stroke at the National Institutes of Health, or NIH. Health care professionals use the NIH Stroke Scale to measure a patient's neurological deficits by asking the patient to answer questions and to perform several physical and mental tests. Other scales include the Glasgow Coma Scale, the Hunt and Hess Scale, the Modified Rankin Scale, and the Barthel Index. Diagnostic Imaging: CT Scan Health care professionals also use a variety of imaging techniques to evaluate acute stroke patients. The most widely used is computed tomography or CT scan, sometimes pronounced CAT scan, which is comprised of a series of cross-sectional images of the head and brain. CT scans are sensitive for detecting hemorrhage and are therefore useful for differentiating hemorrhagic stroke, caused by bleeding in the brain, from ischemic stroke, caused by a blockage of blood flow to the brain. Hemorrhage is the primary reason for avoiding thrombolytic therapy (drugs that break up or dissolve blood clots), the only proven therapy for acute ischemic stroke. Because thrombolytic therapy might make a hemorrhagic stroke worse, doctors must confirm that the acute symptoms are not due to hemorrhage prior to giving the drug. A CT scan may show evidence of early ischemia an area of tissue that is dead or dying due to a loss of blood supply. Ischemic strokes generally show up on a CT scan about six to eight hours after the start of stroke symptoms. Though not as common in practice, CT scans also can be performed with a contrast agent to help visualize a blockage in the large arteries supplying the brain, or detect areas of decreased blood flow to the brain. Because CT is readily available at all hours at most major hospitals, produces images quickly, and is good for ruling out hemorrhage prior to starting thrombolytic therapy, CT is the most widely used diagnostic imaging technique for acute stroke. Diagnostic Imaging: MRI Scan Another imaging technique used in acute stroke patients is the magnetic resonance imaging or MRI scan. MRI uses magnetic fields to detect a variety of changes in the brain and blood vessels caused by a stroke. One effect of ischemic stroke is the slowing of water movement through the injured brain tissue. Because MRI can show this type of injury very soon after stroke symptoms start, MRI has proven useful for diagnosing acute ischemic stroke before it is visible on CT. MRI also allows doctors to visualize blockages in the arteries, identify sites of prior stroke, and create a stroke treatment and prevention plan. Differences Between CT and MRI Scans MRI and CT are equally accurate for determining when hemorrhage is present. The benefit of MRI over a CT scan is more accurate and earlier diagnosis of ischemic stroke, especially for smaller strokes and transient ischemic attacks (TIAs). MRI can be more sensitive than CT for detecting other types of neurological disorders that mimic the symptoms of stroke. However, MRI cannot be performed in patients with certain types of metallic or electronic implants, such as pacemakers for the heart. Although increasingly used in the emergency diagnosis of stroke, MRI is not immediately available at all hours in most hospitals, where CT is used for acute stroke diagnosis. MRI typically takes longer to perform than CT, and therefore may not be the first choice when minutes count.",30909 Does the incorporation of prior genomic information necessarily improve the performance of Bayesian linkage methods : an example involving sex-specific recombination and the two-point PPL?,Incorporating (correct) prior genomic information is not always helpful. We recommend that the PPLSA be used as the standard form of the PPL regardless of the sex-specific recombination rates in the region of the marker in question.,30910 How to diagnose Renal Artery Stenosis ?,"A health care provider can diagnose RAS by listening to the abdomen with a stethoscope and performing imaging tests. When blood flows through a narrow artery, it sometimes makes a whooshing sound, called a bruit. The health care provider may place a stethoscope on the front or the side of the abdomen to listen for this sound. The absence of this sound, however, does not exclude the possibility of RAS. In some cases, RAS is found when a person has a test for another reason. For example, a health care provider may find RAS during a coronary angiogram for diagnosis of heart problems. A coronary angiogram is a procedure that uses a special dye, called contrast medium, and x rays to see how blood flows through the heart. The following imaging tests are used to diagnose RAS: - Duplex ultrasound. Duplex ultrasound combines traditional ultrasound with Doppler ultrasonography. Traditional ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. Doppler ultrasonography records sound waves reflected off of moving objects, such as blood, to measure their speed and other aspects of how they flow. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed. The images can show blockage in the renal artery or blood moving through nearby arteries at a lower-than-normal speed. Ultrasound is noninvasive and low cost. - Catheter angiogram. A catheter angiogram, also called a traditional angiogram, is a special kind of x ray in which a thin, flexible tube called a catheter is threaded through the large arteries, often from the groin, to the artery of interestin this case, the renal artery. The procedure is performed in a hospital or outpatient center by a radiologist. Anesthesia is not needed though a sedative may be given to lessen anxiety during the procedure. Contrast medium is injected through the catheter so the renal artery shows up more clearly on the x ray. Catheter angiogram is the gold standard for diagnosing RAS due to the high quality of the image produced. In addition, severe RAS can be treated during the same visit. However, a catheter angiogram is an invasive procedure, and a person may have side effects from the sedative or contrast medium or may have bleeding or injury to the artery from the catheter. The procedure is also more expensive than other imaging tests. - Computerized tomographic angiography (CTA) scan. CTA scans use a combination of x rays and computer technology to create images. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed. Contrast medium is injected into a vein in the persons arm to better see the structure of the arteries. CTA scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. CTA scans are less invasive than catheter angiograms and take less time. However, the risks from the x-ray radiation still exist, and the test often requires more contrast medium than a catheter angiogram, so it may not be recommended for a person with poor kidney function. - Magnetic resonance angiogram (MRA). MRA uses radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed though light sedation may be used for people with a fear of confined spaces. Contrast medium may be injected into a vein in the persons arm to better see the structure of the arteries. With most MRA scans, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. In addition to providing high-quality images noninvasively, MRA can provide a functional assessment of blood flow and organ function. However, the use of contrast medium for an MRA is not advised for people with poor kidney function because of the risk of complications to the skin and other organs if the kidneys do not remove the contrast medium well enough.",30911 What is (are) Canker Sores ?,"Canker sores are small, round sores in your mouth. They can be on the inside of your cheek, under your tongue, or in the back of your throat. They usually have a red edge and a gray center. They can be quite painful. They are not the same as cold sores, which are caused by herpes simplex. Canker sores aren't contagious. They may happen if you have a viral infection. They may also be triggered by stress, food allergies, lack of vitamins and minerals, hormonal changes or menstrual periods. In some cases the cause is unknown. In most cases, the sores go away by themselves. Some ointments, creams or rinses may help with the pain. Avoiding hot, spicy food while you have a canker sore also helps.",30912 what research (or clinical trials) is being done for Pelizaeus-Merzbacher Disease ?,"NINDS supports research on gene-linked disorders, including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and ultimately cure them.",30913 Is glucose intolerance associated with C-reactive protein and intima-media anatomy of the common carotid artery in patients with coronary heart disease?,"Glucose intolerance was associated with hs-CRP and cIMa in patients with coronary heart disease without known diabetes mellitus. Thus, inflammation, atherosclerosis and impaired glucose tolerance are tightly interrelated disorders even in subjects without known diabetes mellitus.",30914 Does cTLA4 blockade induce frequent tumor infiltration by activated lymphocytes regardless of clinical responses in humans?,CTLA4 blockade induces frequent increases in ITI by T cells despite which only a minority of patients have objective tumor responses.,30915 What are the complications of Wilson Disease ?,"People who have Wilson disease that is not treated or diagnosed early can have serious complications, such as - cirrhosisscarring of the liver - kidney damageas liver function decreases, the kidneys may be damaged - persistent nervous system problems when nervous system symptoms do not resolve - liver cancerhepatocellular carcinoma is a type of liver cancer that can occur in people with cirrhosis - liver failurea condition in which the liver stops working properly - death, if left untreated",30916 Is acute pulmonary inflammation inhibited in CXCR3 knockout mice after short-term cigarette smoke exposure?,"Our data show that CXCR3 is important in recruiting inflammatory cells (particularly CD8+ T cells) into the airways and lungs, as well as initiating inflammatory and fibrotic cytokines release at 2 h following a short-term CS insult. CXCR3 could be a novel target for the treatment of pulmonary inflammation induced by CS.",30917 Does docosahexaenoic acid reduce inflammation and joint destruction in mice with collagen-induced arthritis?,Prophylactic treatment with DHA was efficacious in a mouse model of rheumatoid arthritis and may be a useful intervention strategy against inflammatory arthritis.,30918 Does the anterior cingulate ERK pathway contribute to regulation of behavioral excitement and hedonic activity?,"These data support a role for the ACC ERK pathway in the regulation of affective-related behaviors. However, the medial prefrontal cortex (mPFC) comprises at least three other regions that will need to be similarly examined before specific roles of the ACC ERK pathway can be definitively attributed to affective behaviors. Additionally, responses of other signaling pathways to mood stabilizers in these mPFC regions, as well as the limbic regions to which they project, will be important to examine.",30919 Are perineural Invasion and Lymphovascular Invasion Associated with Increased Risk of Biochemical Recurrence in Patients Undergoing Radical Prostatectomy?,"PNI and LVI are adverse pathologic parameters and independent predictors for BCR, and the concurrent presence of PNI and LVI resulted in poorer outcomes for BCR in PCa patients who underwent RP.",30920 Does all-trans retinoic acid increase oxidative metabolism in mature adipocytes?,The results indicate that RA directly favors remodeling of mature 3T3-L1 adipocytes in culture toward increased oxidative metabolism.,30921 What are the treatments for hereditary sensory and autonomic neuropathy type II ?,These resources address the diagnosis or management of HSAN2: - Gene Review: Gene Review: Hereditary Sensory and Autonomic Neuropathy Type II - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIA - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30922 How to diagnose Lip and Oral Cavity Cancer ?,"Tests that examine the mouth and throat are used to detect (find), diagnose, and stage lip and oral cavity cancer. The following tests and procedures may be used: - Physical exam of the lips and oral cavity: An exam to check the lips and oral cavity for abnormal areas. The medical doctor or dentist will feel the entire inside of the mouth with a gloved finger and examine the oral cavity with a small long-handled mirror and lights. This will include checking the insides of the cheeks and lips; the gums; the roof and floor of the mouth; and the top, bottom, and sides of the tongue. The neck will be felt for swollen lymph nodes. A history of the patients health habits and past illnesses and medical and dental treatments will also be taken. - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist. If leukoplakia is found, cells taken from the patches are also checked under the microscope for signs of cancer. - Exfoliative cytology : A procedure to collect cells from the lip or oral cavity. A piece of cotton, a brush, or a small wooden stick is used to gently scrape cells from the lips, tongue, mouth, or throat. The cells are viewed under a microscope to find out if they are abnormal. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Barium swallow : A series of x-rays of the esophagus and stomach. The patient drinks a liquid that contains barium (a silver-white metallic compound). The liquid coats the esophagus and x-rays are taken. This procedure is also called an upper GI series. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner.",30923 Do reconstruction of the irradiated orbit with autogenous fat grafting for improved ocular implant?,Autologous fat grafting may be used for improved ocular implantation to the irradiated enucleated orbit.,30924 What are the treatments for Langer-Giedion syndrome ?,These resources address the diagnosis or management of Langer-Giedion syndrome: - Genetic Testing Registry: Langer-Giedion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30925 What are the treatments for Parasites - Echinococcosis ?,"In the past, surgery was the only treatment for cystic echinococcal cysts. Chemotherapy, cyst puncture, and PAIR (percutaneous aspiration, injection of chemicals and reaspiration) have been used to replace surgery as effective treatments for cystic echinococcosis. However, surgery remains the most effective treatment to remove the cyst and can lead to a complete cure. Some cysts are not causing any symptoms and are inactive; those cysts often go away without any treatment. The treatment of alveolar echinococcosis is more difficult than cystic echinococcosis and usually requires radical surgery, long-term chemotherapy, or both. More on: Resources for Health Professionals: Treatment",30926 Do an update on the Boston Marathon as a research laboratory?,"Cardiac issues remain the largest subject area for BAA studies, but with more emphasis on the effect of prolonged exercise on atherosclerotic and thrombotic risk factors. This shift is associated with an increase in marathon participation by older, recreational runners at increased risk of cardiac complications due to exercise.",30927 Does silibinin induce mitochondrial NOX4-mediated endoplasmic reticulum stress response and its subsequent apoptosis?,"Taken together, silibinin induced mitochondrial ROS-dependent apoptosis through NOX4, which is associated with disruption of Ca(2+) homeostasis and ER stress response. Therefore, the regulation of NOX4, mitochondrial ROS producer, could be a potential target for the treatment of prostate cancer.",30928 What are the treatments for Hypertonia ?,"Muscle relaxing drugs such as baclofen, diazepam, and dantrolene may be prescribed to reduce spasticity. All of these drugs can be taken by mouth, but baclofen may also be injected directly into the cerebrospinal fluid through an implanted pump. Botulinum toxin is often used to relieve hypertonia in a specific area of the body because its effects are local, not body-wide. People with hypertonia should try to preserve as much movement as possibly by exercising within their limits and using physical therapy. Drugs that affect the dopamine system (dopamine is a chemical in the brain) such as levodopa/carbidopa, or entacapone, are often used to treat the rigidity associated with Parkinson's disease.",30929 Does b7-1 induce immunosuppression when expressed in cultured neonatal mice keratinocytes?,"Cultured murine keratinocytes expressed B7-1, but not B7-2 or B7-H1. The keratinocytes attenuated CTL-mediated lysis and suppressed lymphocyte proliferation via an interaction with B7-1 and CTLA-4. Therefore, separate expression of B7-1 induced immunosuppression. Non-professional APCs (antigen presenting cells) which separately express B7-1 may possess an ability to induce immunotolerance and thus act as a regulatory APC.",30930 Do recurrent flares of pancreatitis predict development of exocrine insufficiency in chronic pancreatitis?,"Recurrent flares of pancreatitis predispose to the development of exocrine insufficiency in CP. Patients with complex-type pain, older age at diagnosis, and advanced morphologic stage are more likely to have persistent pain. PD morphology does not correlate with the risk of developing exocrine failure and/or diabetes. Pain does not necessarily decrease or disappear with the onset of exocrine insufficiency and diabetes.",30931 What are the symptoms of Telfer Sugar Jaeger syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Telfer Sugar Jaeger syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% Hypopigmentation of hair 90% Hypopigmented skin patches 90% Poikiloderma 90% Abnormality of the eyebrow 50% Cognitive impairment 50% Hypermelanotic macule 50% Incoordination 50% Sensorineural hearing impairment 50% Aganglionic megacolon 7.5% Heterochromia iridis 7.5% Neoplasm of the skin 7.5% Absent pigmentation of the ventral chest - Ataxia - Autosomal dominant inheritance - Hearing impairment - Intellectual disability - White forelock - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30932 what research (or clinical trials) is being done for Todd's Paralysis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Todd's paralysis in its clinics and laboratories at The National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding successful methods to prevent Todd's paralysis in individuals with epilepsy.",30933 What are the treatments for Osteoarthritis ?,"For many people, surgery helps relieve the pain and disability of osteoarthritis. Surgery may be performed to achieve one or more of the following. - Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). - Repositioning of bones (osteotomy). - Resurfacing (smoothing out) bones (joint resurfacing). Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). Repositioning of bones (osteotomy). Resurfacing (smoothing out) bones (joint resurfacing). The decision to use surgery depends on several factors, including the patients age, occupation, level of disability, pain intensity, and the degree to which arthritis interferes with his or her lifestyle. After surgery and rehabilitation, the patient usually feels less pain and swelling and can move more easily.",30934 Is previous laparotomy a contraindication to laparoscopy-assisted gastrectomy for early gastric cancer?,"There was no difference in outcome following LAG between the PSURG and NSURG groups in the present study. The PSURG patient is not contraindicated for LAG assuming careful attention is given for all operative procedures, including port insertion and dissection of intra-abdominal adhesions.",30935 What is the outlook for Paraneoplastic Syndromes ?,"There are no cures for paraneoplastic syndromes. There are no available treatments to stop progressive neurological damage. Generally, the stage of cancer at diagnosis determines the outcome.",30936 Does real-time high-resolution compound imaging allow percutaneous initiation and surveillance in an orthotopic murine pancreatic cancer model?,High-resolution real-time compound imaging substitutes killing of mice during longitudinal studies and can be used for minimizing animal consumption because each mouse can be followed in an experimental group rather than having to resort to euthanasia for tissue harvesting.,30937 What are the symptoms of Nablus mask-like facial syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Nablus mask-like facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antihelix 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Blepharophimosis 90% Cryptorchidism 90% Depressed nasal ridge 90% External ear malformation 90% Highly arched eyebrow 90% Lack of skin elasticity 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Pointed helix 90% Sacrococcygeal pilonidal abnormality 90% Telecanthus 90% Abnormality of dental morphology 50% Abnormality of the nipple 50% Camptodactyly of finger 50% Cognitive impairment 50% Limitation of joint mobility 50% Microcephaly 50% Sandal gap 50% Short neck 50% Abnormal hair quantity 7.5% Abnormality of the eyelashes 7.5% Abnormality of the nares 7.5% Cleft palate 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Abnormality of the teeth - Autosomal recessive inheritance - Broad neck - Camptodactyly - Clinodactyly - Depressed nasal bridge - Frontal bossing - Frontal upsweep of hair - Happy demeanor - High palate - Hypertelorism - Hypoplasia of the maxilla - Hypoplastic nipples - Joint contracture of the hand - Labial hypoplasia - Low anterior hairline - Low-set ears - Mask-like facies - Micropenis - Narrow forehead - Narrow mouth - Posteriorly rotated ears - Postnatal microcephaly - Prominent glabella - Retrognathia - Short nose - Short palpebral fissure - Smooth philtrum - Sparse eyebrow - Sparse eyelashes - Sporadic - Tapered finger - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30938 What are the treatments for dyskeratosis congenita ?,These resources address the diagnosis or management of dyskeratosis congenita: - Gene Review: Gene Review: Dyskeratosis Congenita - Genetic Testing Registry: Dyskeratosis congenita - Genetic Testing Registry: Dyskeratosis congenita X-linked - Genetic Testing Registry: Dyskeratosis congenita autosomal dominant - Genetic Testing Registry: Dyskeratosis congenita autosomal recessive 1 - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30939 What are the treatments for Breast Cancer ?,"Even if the surgeon removes all of the cancer that can be seen at the time of surgery, a woman may still receive follow-up treatment. This may include radiation therapy, chemotherapy, or hormone therapy to try to kill any cancer cells that may be left. Treatment that a patient receives after surgery to increase the chances of a cure is called adjuvant therapy.",30940 Is tacrolimus induction followed by maintenance monotherapy useful in selected patients with moderate-to-severe ulcerative colitis refractory to prior treatment?,Oral monotherapy with tacrolimus may be a valuable long-term therapeutic option in selected patients with moderate-to-severe active refractory ulcerative colitis.,30941 Is CATSPER1-related nonsyndromic male infertility inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show symptoms of the condition. Males with two CATSPER1 gene mutations in each cell have CATSPER1-related nonsyndromic male infertility. Females with two CATSPER1 gene mutations in each cell have no symptoms because the mutations only affect sperm function, and women do not produce sperm.",30942 Is b and T Lymphocyte Attenuator a Target of miR-155 during Naïve CD4+ T Cell Activation?,miR-155 is involved in the inhibition of BTLA during CD4+ T cell activation. These results might serve as a basis for an eventual therapeutic manipulation of this pathway to treat inflammatory and autoimmune diseases.,30943 Does intramedullary control of distal femoral resection result in precise coronal alignment in TKA?,"The new technique of intramedullary control of distal femoral resection, together with preoperative planning, leads to a precise alignment of the femoral component in the coronal plane. Thus, for the first time, a simple and effective tool for checking distal femoral resection is available for standardized use.",30944 Does ubiquitous Gasp1 overexpression in mice lead mainly to a hypermuscular phenotype?,"Altogether, our data give new insight into the in vivo functions of Gasp1. As an extracellular regulatory factor in the myostatin signalling pathway, additional studies on GASP1 and its homolog GASP2 are required to elucidate the crosstalk between the different intrinsic inhibitors of the myostatin.",30945 What is (are) congenital leptin deficiency ?,"Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret. People with congenital leptin deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).",30946 How many people are affected by paramyotonia congenita ?,"Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people.",30947 What is (are) Isovaleric acidemia ?,"Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy); these may progress to more serious medical problems including seizures, coma, and possibly death. In other cases, signs and symptoms appear during childhood and may come and go over time. A characteristic sign of IVA is a distinctive odor of sweaty feet during acute illness. Other features may include failure to thrive or delayed development. IVA is caused by mutations in the IVD gene and is inherited in an autosomal recessive manner. Treatment involves moderate restriction of proteins in the diet and oral administration of glycine and L-carnitine which helps to rid the body of excess isovaleric acid.",30948 "Do haplotype analysis of the 5,10-methylenetetrahydrofolate reductase ( MTHFR ) c.1298A > C ( E429A ) polymorphism?","Given that the era from 30,000 to 40,000 years ago is characterised by the spread of modern humans in Europe and that the prevalence of the MTHFR c.1298C allele is significantly higher in Central Europe in comparison to African populations, a selective advantage of MTHFR c.1298C could be assumed, e. g. by adaption to changes in the nutritional environment. The known founder ancestry of the T allele of MTHFR c.677C>T allele, together with the present data suggests that the MTHFR mutant alleles c.677T and 1298C arose from two independent ancestral alleles, that both confer a selective advantage.",30949 What is (are) Neurologic Diseases ?,"The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood. There are more than 600 neurologic diseases. Major types include - Diseases caused by faulty genes, such as Huntington's disease and muscular dystrophy - Problems with the way the nervous system develops, such as spina bifida - Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease - Diseases of the blood vessels that supply the brain, such as stroke - Injuries to the spinal cord and brain - Seizure disorders, such as epilepsy - Cancer, such as brain tumors - infections, such as meningitis",30950 Is late dislocation associated with recurrence after total hip arthroplasty?,Late dislocation significantly contributed to the development of recurrent dislocations.,30951 What is (are) Cramp-fasciculation syndrome ?,"Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles. Affected people have persistent muscle twitching (fasciculations) and cramping, which can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Symptoms are thought to be due to overactivity of the associated nerves. In most cases, CFS occurs sporadically in people with no family history of the condition. There is limited information about the treatment of CFS, but certain medications have been reported as beneficial in individual cases.",30952 What are the treatments for hereditary sensory and autonomic neuropathy type V ?,These resources address the diagnosis or management of HSAN5: - Genetic Testing Registry: Congenital sensory neuropathy with selective loss of small myelinated fibers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30953 Is X-linked chondrodysplasia punctata 2 inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the EBP gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of 3-hydroxysteroid-8,7-isomerase and other cells produce none. The resulting overall reduction in the amount of this enzyme underlies the signs and symptoms of X-linked chondrodysplasia punctata 2. In males (who have only one X chromosome), a mutation in the EBP gene can result in a total loss of 3-hydroxysteroid-8,7-isomerase. A complete lack of this enzyme is usually lethal in the early stages of development, so few males have been born with X-linked chondrodysplasia punctata 2.",30954 Does deficiency of endothelial nitric oxide signaling pathway exacerbate peritoneal fibrosis in mice?,Disruption of the eNOS-NO signaling pathway exacerbates peritoneal fibrosis by delaying wound healing. sGC stimulation may be a useful therapy for prevention of peritoneal fibrosis.,30955 Is a juvenile polyposis tumor suppressor locus at 10q22 deleted from nonepithelial cells in the lamina propria?,"The location of a novel tumor suppressor gene on chromosome 10 that is affected by deletion mutation in the majority of juvenile polyps was mapped. Unlike adenomas and carcinomas of the colonic epithelium, juvenile polyps originate in the lamina propria.",30956 What are the genetic changes related to Nijmegen breakage syndrome ?,"Mutations in the NBN gene cause Nijmegen breakage syndrome. The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. Nibrin interacts with two other proteins as part of a larger protein complex. This protein complex works to mend broken strands of DNA. DNA can be damaged by agents such as toxic chemicals or radiation. Breaks in DNA strands also occur naturally when chromosomes exchange genetic material in preparation for cell division. Repairing DNA prevents cells from accumulating genetic damage that can cause them to die or to divide uncontrollably. The nibrin protein and the proteins with which it interacts help maintain the stability of a cell's genetic information through its roles in repairing damaged DNA and regulating cell division. The NBN gene mutations that cause this condition typically lead to the production of an abnormally short version of the nibrin protein. The defective protein is missing important regions, preventing it from responding to DNA damage effectively. As a result, affected individuals are sensitive to the effects of radiation exposure and other agents that can cause breaks in DNA. Nijmegen breakage syndrome gets its name from numerous breaks in DNA that occur in affected people's cells. A buildup of mistakes in DNA can trigger cells to grow and divide abnormally, increasing the risk of cancer in people with Nijmegen breakage syndrome. Nibrin's role in regulating cell division and cell growth (proliferation) is thought to lead to the immunodeficiency seen in affected individuals. A lack of functional nibrin results in less immune cell proliferation. A decrease in the amount of immune cells that are produced leads to reduced amounts of immunoglobulins and other features of immunodeficiency. It is unclear how mutations in the NBN gene cause the other features of Nijmegen breakage syndrome.",30957 Is acatalasemia inherited ?,"Acatalasemia has an autosomal recessive pattern of inheritance, which means both copies of the CAT gene in each cell have mutations. When both copies of the gene are altered, the activity of catalase is reduced to less than 10 percent of normal. When only one of the two copies of the CAT gene has a mutation, the activity of catalase is reduced by approximately half. This reduction in catalase activity is often called hypocatalasemia. Like acatalasemia, hypocatalasemia usually does not cause any health problems.",30958 What are the treatments for oral-facial-digital syndrome ?,These resources address the diagnosis or management of oral-facial-digital syndrome: - Gene Review: Gene Review: Oral-Facial-Digital Syndrome Type I - Genetic Testing Registry: Mohr syndrome - Genetic Testing Registry: Oral-facial-digital syndrome - Genetic Testing Registry: Orofacial-digital syndrome III - Genetic Testing Registry: Orofacial-digital syndrome IV - Genetic Testing Registry: Orofaciodigital syndrome 10 - Genetic Testing Registry: Orofaciodigital syndrome 11 - Genetic Testing Registry: Orofaciodigital syndrome 5 - Genetic Testing Registry: Orofaciodigital syndrome 6 - Genetic Testing Registry: Orofaciodigital syndrome 7 - Genetic Testing Registry: Orofaciodigital syndrome 8 - Genetic Testing Registry: Orofaciodigital syndrome 9 - Genetic Testing Registry: Orofaciodigital syndromes - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Polycystic Kidney Disease - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30959 Is a fulminant colitis index greater or equal to 8 predictive of colectomy risk in infliximab-treated moderate-to-severe ulcerative colitis attacks?,"In patients treated with infliximab for moderate-to-severe UC attacks, the FCI is not a predictor of colectomy. In such patients, the factors predictive of a response to treatment or likelihood of colectomy, currently acknowledged with corticosteroid treatment, need to be further assessed for infliximab treatment.",30960 What are the symptoms of Hirschsprung disease polydactyly heart disease ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon - Autosomal recessive inheritance - Polysyndactyly of hallux - Preaxial foot polydactyly - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30961 Does side of pupillary mydriasis predict the cognitive prognosis in patients with severe traumatic brain injury?,Side of admission pupil abnormalities may be a useful variable to improve prognostic models for long-term cognitive performance in severe TBI patients.,30962 Does haplotype analysis and a novel allele-sharing method refine a chromosome 4p locus linked to bipolar affective disorder?,"Linkage of BPAD to chromosome 4p has been strengthened. Haplotype analysis in the additional linked families refined the 20-Mb linkage region. Development of a novel allele-sharing method allowed us to bridge the gap between conventional linkage and association studies. Description of a 200-kb region of increased allele sharing prioritizes this region, which contains two functional candidate genes for BPAD, SLC2A9, and WDR1, for subsequent studies.",30963 Are functional movement disorders uncommon in the elderly?,"Contrary to common perceptions, FMDs are not uncommon in the elderly, and 1 in 5 patients in the current cohort, onset of FMD occurred after age 60 years. Gait abnormalities and psychogenic nonepileptic seizures may be more common in older patients.",30964 What are the genetic changes related to coloboma ?,"Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma. The location of the coloboma depends on the part of the optic fissure that failed to close. Coloboma may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with coloboma have been identified only in very small numbers of affected individuals. The risk of coloboma may also be increased by environmental factors that affect early development, such as exposure to alcohol during pregnancy. In these cases, affected individuals usually have other health problems in addition to coloboma.",30965 What are the treatments for small fiber neuropathy ?,These resources address the diagnosis or management of small fiber neuropathy: - Genetic Testing Registry: Small fiber neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30966 How many people are affected by craniofacial microsomia ?,"Craniofacial microsomia has been estimated to occur in between 1 in 5,600 and 1 in 26,550 newborns. However, this range may be an underestimate because not all medical professionals agree on the criteria for diagnosis of this condition, and because mild cases may never come to medical attention. For reasons that are unclear, the disorder occurs about 50 percent more often in males than in females.",30967 What are the symptoms of Breast Cancer ?,"When breast cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that women should watch for. You can help safeguard your health by learning the following warning signs of breast cancer. - a lump or thickening in or near the breast or in the underarm area - a change in the size or shape of the breast - ridges or pitting of the breast; the skin looks like the skin of an orange - a change in the way the skin of the breast, areola, or nipple looks or feels; for example, it may be warm, swollen, red, or scaly - nipple discharge or tenderness, or the nipple is pulled back or inverted into the breast. a lump or thickening in or near the breast or in the underarm area a change in the size or shape of the breast ridges or pitting of the breast; the skin looks like the skin of an orange a change in the way the skin of the breast, areola, or nipple looks or feels; for example, it may be warm, swollen, red, or scaly nipple discharge or tenderness, or the nipple is pulled back or inverted into the breast. You should see your doctor about any symptoms like these. Most often, they are not cancer, but it's important to check with the doctor so that any problems can be diagnosed and treated as early as possible.",30968 What are the symptoms of Cutaneous mastocytosis ?,"Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms that vary in severity: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. Maculopapular cutaneous mastocytosis, the most common form of cutaneous mastocytosis, is characterized by itchy, brown patches on the skin. Although these patches may be mistaken for freckles or bug bites initially, they typically persist and gradually increase in number over several months to years. In young children, the patches may form a blister if itched or rubbed. Itching may worsen with changes in temperature, strenuous activity, emotional stress, and/or certain medications. Maculopapular cutaneous mastocytosis is most commonly seen in infants and young children and often fades by the teenaged years. In some cases, this condition may not develop until adulthood. These later onset cases generally last long-term and are more likely to progress to systemic mastocytosis. Solitary cutaneous mastocytoma is a localized form of cutaneous mastocytosis. Like maculopapular cutaneous mastocytosis, this form is typically diagnosed in young children. However, it is characterized by an itchy area of reddish or brown skin that is often thickened. When itched, these patches of skin may swell, redden, and/or blister. This form typically resolves spontaneously with age. Diffuse cutaneous mastocytosis, the most severe form of cutaneous mastocytosis, usually develops in infancy. Unlike the other forms of cutaneous mastocytosis, it affects most or all of the skin rather than appearing as distinct patches. In people affected by this condition, the skin is leathery and thickened. It may appear normal, yellowish-brown, or red in color. In some cases, there may also be widespread blistering. Additional symptoms may include hypotension, diarrhea, gastrointestinal bleeding, reddening of the skin (flushing), and anaphylactic shock. The rarest form of cutaneous mastocytosis is called telangiectasia macularis eruptiva perstans. Unlike the other forms of cutaneous mastocytosis, this form is primarily diagnosed in adults and is generally not associated with pruritus and blistering. People affected by this condition have persistent brown patches of skin and extensive telegiactasia. Rarely, this form may progress to systemic mastocytosis. The Human Phenotype Ontology provides the following list of signs and symptoms for Cutaneous mastocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypermelanotic macule 90% Mastocytosis 90% Pruritus 90% Urticaria 90% Abdominal pain 50% Abnormal blistering of the skin 50% Abnormal renal physiology 7.5% Asthma 7.5% Behavioral abnormality 7.5% Coronary artery disease 7.5% Diarrhea 7.5% Gastrointestinal hemorrhage 7.5% Hepatomegaly 7.5% Hypercalcemia 7.5% Hypotension 7.5% Impaired temperature sensation 7.5% Increased bone mineral density 7.5% Leukemia 7.5% Malabsorption 7.5% Migraine 7.5% Nausea and vomiting 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Respiratory insufficiency 7.5% Sarcoma 7.5% Splenomegaly 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30969 What are the treatments for Benign rolandic epilepsy (BRE) ?,"Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine.",30970 Does effect of different impression materials and techniques on the dimensional accuracy of implant definitive cast?,"There was no difference between open and closed tray impression techniques; however, less distortion and deviation were observed in the open tray technique. In the closed tray impression technique, ball top screw was more accurate than short impression copings.",30971 What is (are) hereditary sensory and autonomic neuropathy type IE ?,"Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. Affected individuals have a gradual loss of intellectual function (dementia), typically beginning in their thirties. In some people with this disorder, changes in personality become apparent before problems with thinking skills. People with HSAN IE also develop hearing loss that is caused by abnormalities in the inner ear (sensorineural hearing loss). The hearing loss gets worse over time and usually progresses to moderate or severe deafness between the ages of 20 and 35. HSAN IE is characterized by impaired function of nerve cells called sensory neurons, which transmit information about sensations such as pain, temperature, and touch. Sensations in the feet and legs are particularly affected in people with HSAN IE. Gradual loss of sensation in the feet (peripheral neuropathy), which usually begins in adolescence or early adulthood, can lead to difficulty walking. Affected individuals may not be aware of injuries to their feet, which can lead to open sores and infections. If these complications are severe, amputation of the affected areas may be required. HSAN IE is also characterized by a loss of the ability to sweat (sudomotor function), especially on the hands and feet. Sweating is a function of the autonomic nervous system, which also controls involuntary body functions such as heart rate, digestion, and breathing. These other autonomic functions are unaffected in people with HSAN IE. The severity of the signs and symptoms of HSAN IE and their age of onset are variable, even within the same family.",30972 Does contrast enhancement pattern on multidetector CT predict malignancy in pancreatic endocrine tumours?,"Correlating with the lesion grading and other histological prognostic predictors, CEP may preoperatively suggest the behaviour of pNETs, assisting decisions about treatment. Moreover CEP allows recognition of malignant small tumours, incorrectly classified on the basis of their dimension.",30973 Does thymoquinone inhibit proliferation in gastric cancer via the STAT3 pathway in vivo and in vitro?,This study provides strong evidence that downregulation of the STAT3 signaling pathway mediates TQ-induced apoptosis in gastric cancer.,30974 What are the symptoms of Mucopolysaccharidosis type IIIC ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIC. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Cognitive impairment 90% Hypertrichosis 90% Malabsorption 90% Mucopolysacchariduria 90% Otitis media 90% Sleep disturbance 90% Abnormal form of the vertebral bodies 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ribs 50% Cataract 50% Craniofacial hyperostosis 50% Developmental regression 50% Genu valgum 50% Hearing impairment 50% Hypertonia 50% Incoordination 50% Limitation of joint mobility 50% Myopia 50% Opacification of the corneal stroma 50% Scoliosis 50% Seizures 50% Umbilical hernia 50% Vocal cord paresis 50% Hepatomegaly 7.5% Splenomegaly 7.5% Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cellular metachromasia - Coarse facial features - Dense calvaria - Diarrhea - Dolichocephaly - Dysostosis multiplex - Dysphagia - Growth abnormality - Heparan sulfate excretion in urine - Hernia - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Kyphoscoliosis - Loss of speech - Motor delay - Motor deterioration - Ovoid thoracolumbar vertebrae - Recurrent upper respiratory tract infections - Rod-cone dystrophy - Synophrys - Thickened ribs - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30975 What are the genetic changes related to peroxisomal acyl-CoA oxidase deficiency ?,"Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene, which provides instructions for making an enzyme called peroxisomal straight-chain acyl-CoA oxidase. This enzyme is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The peroxisomal straight-chain acyl-CoA oxidase enzyme plays a role in the breakdown of certain fat molecules called very long-chain fatty acids (VLCFAs). Specifically, it is involved in the first step of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the VLCFA molecules by two carbon atoms at a time until the VLCFAs are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell. ACOX1 gene mutations prevent the peroxisomal straight-chain acyl-CoA oxidase enzyme from breaking down VLCFAs efficiently. As a result, these fatty acids accumulate in the body. It is unclear exactly how VLCFA accumulation leads to the specific features of peroxisomal acyl-CoA oxidase deficiency. However, researchers suggest that the abnormal fatty acid accumulation triggers inflammation in the nervous system that leads to the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Leukodystrophy is likely involved in the development of the neurological abnormalities that occur in peroxisomal acyl-CoA oxidase deficiency.",30976 Is juvenile primary osteoporosis inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",30977 How to diagnose Cardiomyopathy ?,"Your doctor will diagnose cardiomyopathy based on your medical and family histories, a physical exam, and the results from tests and procedures. Specialists Involved Often, a cardiologist or pediatric cardiologist diagnoses and treats cardiomyopathy. A cardiologist specializes in diagnosing and treating heart diseases. A pediatric cardiologist is a cardiologist who treats children. Medical and Family Histories Your doctor will want to learn about your medical history. He or she will want to know what signs and symptoms you have and how long you've had them. Your doctor also will want to know whether anyone in your family has had cardiomyopathy, heart failure, or sudden cardiac arrest. Physical Exam Your doctor will use a stethoscope to listen to your heart and lungs for sounds that may suggest cardiomyopathy. These sounds may even suggest a certain type of the disease. For example, the loudness, timing, and location of a heart murmur may suggest obstructive hypertrophic cardiomyopathy. A ""crackling"" sound in the lungs may be a sign of heart failure. (Heart failure often develops in the later stages of cardiomyopathy.) Physical signs also help your doctor diagnose cardiomyopathy. Swelling of the ankles, feet, legs, abdomen, or veins in your neck suggests fluid buildup, a sign of heart failure. Your doctor may notice signs and symptoms of cardiomyopathy during a routine exam. For example, he or she may hear a heart murmur, or you may have abnormal test results. Diagnostic Tests Your doctor may recommend one or more of the following tests to diagnose cardiomyopathy. Blood Tests During a blood test, a small amount of blood is taken from your body. It's often drawn from a vein in your arm using a needle. The procedure usually is quick and easy, although it may cause some short-term discomfort. Blood tests give your doctor information about your heart and help rule out other conditions. Chest X Ray A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. This test can show whether your heart is enlarged. A chest x ray also can show whether fluid is building up in your lungs. EKG (Electrocardiogram) An EKG is a simple test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. This test is used to detect and study many heart problems, such as heart attacks, arrhythmias (irregular heartbeats), and heart failure. EKG results also can suggest other disorders that affect heart function. A standard EKG only records the heartbeat for a few seconds. It won't detect problems that don't happen during the test. To diagnose heart problems that come and go, your doctor may have you wear a portable EKG monitor. The two most common types of portable EKGs are Holter and event monitors. Holter and Event Monitors Holter and event monitors are small, portable devices. They record your heart's electrical activity while you do your normal daily activities. A Holter monitor records the heart's electrical activity for a full 24- or 48-hour period. An event monitor records your heart's electrical activity only at certain times while you're wearing it. For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms. Echocardiography Echocardiography (echo) is a test that uses sound waves to create a moving picture of your heart. The picture shows how well your heart is working and its size and shape. There are several types of echo, including stress echo. This test is done as part of a stress test (see below). Stress echo can show whether you have decreased blood flow to your heart, a sign of coronary heart disease. Another type of echo is transesophageal (tranz-ih-sof-uh-JEE-ul) echo, or TEE. TEE provides a view of the back of the heart. For this test, a sound wave wand is put on the end of a special tube. The tube is gently passed down your throat and into your esophagus (the passage leading from your mouth to your stomach). Because this passage is right behind the heart, TEE can create detailed pictures of the heart's structures. Before TEE, you're given medicine to help you relax, and your throat is sprayed with numbing medicine. Stress Test Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise (or are given medicine if you're unable to exercise) to make your heart work hard and beat fast while heart tests are done. These tests may include nuclear heart scanning, echo, and positron emission tomography (PET) scanning of the heart. Diagnostic Procedures You may have one or more medical procedures to confirm a diagnosis or to prepare for surgery (if surgery is planned). These procedures may include cardiac catheterization (KATH-e-ter-i-ZA-shun), coronary angiography (an-jee-OG-ra-fee), or myocardial (mi-o-KAR-de-al) biopsy. Cardiac Catheterization This procedure checks the pressure and blood flow in your heart's chambers. The procedure also allows your doctor to collect blood samples and look at your heart's arteries using x-ray imaging. During cardiac catheterization, a long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. This allows your doctor to study the inside of your arteries for blockages. Coronary Angiography This procedure often is done with cardiac catheterization. During the procedure, dye that can be seen on an x ray is injected into your coronary arteries. The dye lets your doctor study blood flow through your heart and blood vessels. Dye also may be injected into your heart chambers. This allows your doctor to study the pumping function of your heart. Myocardial Biopsy For this procedure, your doctor removes a piece of your heart muscle. This can be done during cardiac catheterization. The heart muscle is studied under a microscope to see whether changes in cells have occurred. These changes may suggest cardiomyopathy. Myocardial biopsy is useful for diagnosing some types of cardiomyopathy. Genetic Testing Some types of cardiomyopathy run in families. Thus, your doctor may suggest genetic testing to look for the disease in your parents, brothers and sisters, or other family members. Genetic testing can show how the disease runs in families. It also can find out the chances of parents passing the genes for the disease on to their children. Genetic testing also may be useful if your doctor thinks you have cardiomyopathy, but you don't yet have signs or symptoms. If the test shows you have the disease, your doctor can start treatment early, when it may work best.",30978 Does fertilization by intracytoplasmic sperm injection ( ICSI ) impair subsequent pregnancy outcome following frozen embryo transfer ( ET ) as determined by a large retrospective analysis?,In the largest series to date by far these data convincingly show that fertilization by ICSI does not impair outcome following frozen ET.,30979 What are the treatments for Tumor necrosis factor receptor-associated periodic syndrome ?,"While there is no proven treatment for TRAPS, non steroidal anti-inflammatory drugs (NSAIDS) may be used to relieve symptoms of fever, and corticosteroids may be used to reduce severity of symptoms in most people. However, these medications typically don't decrease the frequency of attacks. Etanercept, a TNF inhibitor, has been shown to be effective but its efficacy tends to wane over time. Standard doses of etanercept twice a week have been shown to decrease the frequency, duration, and severity of attacks in some people and it may also reverse or slow the progression of amyloidosis. More studies are needed to evaluate this medication for TRAPS. Additional information about the treatment of TRAPS can be viewed on Medscape's Web site.",30980 What is (are) Hantavirus Infections ?,"Hantavirus pulmonary syndrome (HPS) is a rare but deadly viral infection. It is spread by mice and rats. They shed the virus in their urine, droppings, and saliva. Tiny droplets with the virus can enter the air. People can get the disease if they breathe infected air or come into contact with rodents or their urine or droppings. You cannot catch it from people. Early symptoms of HPS include - Fatigue - Fever - Muscle aches, especially in the thighs, hips and back - Headaches - Chills - Dizziness - Nausea, vomiting, diarrhea or abdominal pain Later symptoms include coughing and shortness of breath. Controlling rodents in and around your house is the best way to prevent infection. If you have been around rodents and have symptoms of fever, deep muscle aches, and severe shortness of breath, see your doctor immediately. There is no specific treatment, cure, or vaccine for HPS. Patients may do better if it is recognized early and they get medical care in an intensive care unit. They often need to use a breathing machine and have oxygen therapy. Centers for Disease Control and Prevention",30981 Do high laryngeal mask airway pressures resulting from nitrous oxide increase pharyngeal mucosal injury in dogs?,High LMA intracuff pressures produced by N2O do not increase pharyngeal mucosal injury in dogs.,30982 What is (are) Kuru ?,"Kuru is a rare and fatal brain disorder that occurred at epidemic levels during the 1950s-60s among the Fore people in the highlands of New Guinea. The disease was the result of the practice of ritualistic cannibalism among the Fore, in which relatives prepared and consumed the tissues (including brain) of deceased family members. Brain tissue from individuals with kuru was highly infectious, and the disease was transmitted either through eating or by contact with open sores or wounds. Government discouragement of the practice of cannibalism led to a continuing decline in the disease, which has now mostly disappeared. Kuru belongs to a class of infectious diseases called transmissible spongiform encephalopathies (TSEs), also known as prion diseases. The hallmark of a TSE disease is misshapen protein molecules that clump together and accumulate in brain tissue. Scientists believe that misshapen prion proteins have the ability to change their shape and cause other proteins of the same type to also change shape. Other TSEs include Creutzfeldt-Jakob disease and fatal familial insomnia in humans, bovine spongiform encephalopathy in cattle (also known as mad cow disease), scrapie in sheep and goats, and chronic wasting disease in deer and elk.",30983 What is (are) Focal dermal hypoplasia ?,"Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. People with focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Treatment is based on the signs and symptoms present in the person; however, care usually involves a team of specialists, including dermatologists, otolaryngologist, physical/occupational therapists, and hand surgeons.",30984 Does lentivirus-mediated angiopoietin-2 gene silencing decrease TNF-α induced apoptosis of alveolar epithelium cells?,The expression level of Ang-2 increased during TNF-α-induced apoptosis. Inhibiting Ang-2 expression may suppress the early stages of cell apoptosis and the degree of TNF-α-induced apoptosis.,30985 Does miR-20a-5p repress multi-drug resistance in osteosarcoma by targeting the KIF26B gene?,"In addition to providing mechanistic insights, our study revealed that miR-20a-5p and KIF26B contribute to OS chemoresistance and determined the roles of these genes in this process, which may be critical for characterizing drug responsiveness and overcoming chemoresistance in OS patients.",30986 Do polyunsaturated fatty acids cause apoptosis in C. albicans and C. dubliniensis biofilms?,The resultant cell death of both C. albicans and C. dubliniensis is due to apoptosis.,30987 What is (are) Skin Cancer ?,"The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous.",30988 Is ultrasonographic examination of the uterine cervix better than cervical digital examination as a predictor of the likelihood of premature delivery in patients with preterm labor and intact membranes?,Endovaginal ultrasonographic examination of the uterine cervix is more accurate than digital examination of the cervix in the assessment of the risk for preterm delivery in patients with preterm labor and intact membranes.,30989 Does inhibition of urothelial P2X3 receptors prevent desensitization of purinergic detrusor contractions in the rat bladder?,"In the rat bladder, medial and basal urothelial cells express P2X3R, and specific inhibition of the receptor leads to a more hyporeflexive bladder condition. This pathway may involve P2X3R driving a paracrine amplification of ATP released from umbrella cells to increase afferent transmission in the sub-urothelial sensory plexus and desensitization of P2X1-mediated purinergic detrusor contractions.",30990 Does biliary tract enhancement in gadoxetic acid-enhanced MRI correlate with liver function biomarkers?,Gadoxetic-acid contrast enhancement of cystic duct and common bile duct could be used as biomarkers to assess liver function.,30991 Does implications of post-gadolinium MRI result in 13 cases with posterior reversible encephalopathy syndrome?,"Although occasional enhancing brain lesions have been reported in the literature on PRES, contrast-enhancement of lesions may be a factor of scan timing and underlying etiology. Prospective studies with larger series on PRES are required for better evaluation of contrast-enhancement in MRI with respect to scan timing, which in turn may help understand its pathophysiology better.",30992 How many people are affected by biotinidase deficiency ?,"Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns",30993 Does anti-ETA IgG neutralize the effects of Pseudomonas aeruginosa exotoxin A?,"These results suggest that (1) ETA induces apoptosis in hepatocytes, (2) specific cytokines are produced in response to ETA, (3) ETA-Ab neutralizes these effects, and (4) ETA contributes to the spread of P. aeruginosa during burn wound infection.",30994 Are plasma vitamin C levels decreased and correlated with brain damage in patients with intracranial hemorrhage or head trauma?,These findings suggest that a condition of oxidative stress occurs in patients with head trauma and hemorrhagic stroke of recent onset. The consequences of early vitamin C depletion on brain injury as well as the effects of vitamin C supplementation in ICH and HT patients remain to be addressed in further studies.,30995 What are the symptoms of Phosphoglycerate mutase deficiency ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate mutase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myalgia - Myoglobinuria - Myopathy - Renal insufficiency - Rhabdomyolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30996 Does somatosensory temporal discrimination threshold in Parkinson 's disease parallel disease severity and duration?,"STDT increases as disease progresses. In early-phase PD patients STDT values are still statistically similar to those of healthy subjects, thus implying that dopaminergic depletion alone may not be sufficient to cause STDT abnormalities.",30997 Do children show decreased dynamic balance after mild traumatic brain injury?,"Children with a mild TBI still showed balance deficits at 12 weeks postinjury. These deficits should be taken into consideration when planning a return to physical activities, particularly to those that require subtle balance skills.",30998 Is cpG methylation of a silent controlling element in the murine Avy allele incomplete and unresponsive to methyl donor supplementation?,"Our findings suggest that, contrary to previous supposition, methyl donor supplementation acts through an indirect mechanism to silence A(vy). The incomplete cytosine methylation we observe at the somatically silent A(vy) allele may reflect its unstable germline state, and the influence of epigenetic modifications underlying CpG methylation.",30999 what research (or clinical trials) is being done for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?,"New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Natural killer (NK) cells are a type of biologic therapy. NK cells are white blood cells that can kill tumor cells. These may be taken from a donor and given to the patient by infusion to help kill leukemia cells. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",31000 What are the treatments for Cerebellar degeneration ?,"There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life. In acquired (non-genetic and non-inherited) forms of cerebellar degeneration, some signs and symptoms may be reversible with treatment of the underlying cause. For example, paraneoplastic cerebellar degeneration may improve after successful treatment of the underlying cancer. For alcoholic/nutritional cerebellar degeneration, symptoms are often relieved with discontinuation of alcohol abuse, a normal diet and dietary supplementation with thiamine and other B vitamins.",31001 Is production of IL-12 by Peyer patch-dendritic cells critical for the resistance to food allergy?,Reciprocal T(H)1-T(H)2 control of DCs' function within the inductive site of the gut immune system is altered in food allergy.,31002 Does exercise training in heart failure improve quality of life and exercise capacity?,"Supervised exercise training was safe and beneficial in heart failure patients < or = 75 years, especially in men with ischaemic aetiology. The effects of exercise training in women and patients with non-ischaemic aetiology should be further examined.",31003 What is (are) Lichen sclerosus ?,"Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering. It often lasts for years and can cause permanent scarring. The underlying cause of lichen sclerosus is not fully understood but it is thought to relate to an autoimmune process. Treatment may include topical steroids or other types of topical creams and/or surgery.",31004 How to diagnose Childhood Non-Hodgkin Lymphoma ?,"Tests that examine the body and lymph system are used to detect (find) and diagnose childhood non-Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body, including electrolytes, uric acid, blood urea nitrogen (BUN), creatinine, and liver function values. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of cancer. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - A biopsy is done to diagnose childhood non-Hodgkin lymphoma: Cells and tissues are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. Because treatment depends on the type of non-Hodgkin lymphoma, biopsy samples should be checked by a pathologist who has experience in diagnosing childhood non-Hodgkin lymphoma. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node or lump of tissue. - Incisional biopsy : The removal of part of a lump, lymph node, or sample of tissue. - Core biopsy : The removal of tissue or part of a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or part of a lymph node using a thin needle. The procedure used to remove the sample of tissue depends on where the tumor is in the body: - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. - Mediastinoscopy : A surgical procedure to look at the organs, tissues, and lymph nodes between the lungs for abnormal areas. An incision (cut) is made at the top of the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It also has a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. - Anterior mediastinotomy : A surgical procedure to look at the organs and tissues between the lungs and between the breastbone and heart for abnormal areas. An incision (cut) is made next to the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It also has a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. This is also called the Chamberlain procedure. - Thoracentesis : The removal of fluid from the space between the lining of the chest and the lung, using a needle. A pathologist views the fluid under a microscope to look for cancer cells. If cancer is found, the following tests may be done to study the cancer cells: - Immunohistochemistry : A laboratory test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - FISH (fluorescence in situ hybridization): A laboratory test used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA attach to certain genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. This type of test is used to find certain gene changes. - Immunophenotyping : A laboratory test used to identify cells, based on the types of antigens or markers on the surface of the cell. This test is used to diagnose specific types of lymphoma by comparing the cancer cells to normal cells of the immune system.",31005 What are the symptoms of Idiopathic CD4 positive T-lymphocytopenia ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bronchiolitis obliterans organizing pneumonia - Immunodeficiency - Lymphopenia - Recurrent otitis media - Recurrent sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31006 What is the outlook for Kidney Dysplasia ?,"The long-term outlook for a child with kidney dysplasia in only one kidney is generally good. A person with one working kidney, a condition called solitary kidney, can grow normally and may have few, if any, health problems. The affected kidney may shrink as the child grows. By age 10,3 the affected kidney may no longer be visible on x-ray or ultrasound. Children and adults with only one working kidney should have regular checkups to test for high blood pressure and kidney damage. A child with urinary tract problems that lead to failure of the working kidney may eventually need dialysis or a kidney transplant. More information is provided in the NIDDK health topics, solitary kidney, dialysis, and kidney transplants.",31007 "Does whole Soy Flour Incorporated into a Muffin and Consumed at 2 Doses of Soy Protein Lower LDL Cholesterol in a Randomized , Double-Blind Controlled Trial of Hypercholesterolemic Adults?",Consuming 12.5 or 25 g protein from defatted soy flour incorporated into muffins does not reduce LDL cholesterol or other CHD risk factors in hypercholesterolemic adults. This trial was registered at clinicaltrials.gov as NCT01547585.,31008 What are the treatments for cyclic neutropenia ?,These resources address the diagnosis or management of cyclic neutropenia: - Gene Review: Gene Review: ELANE-Related Neutropenia - Genetic Testing Registry: Cyclical neutropenia - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,31009 "How to diagnose Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?","Tests that examine the ovaries and pelvic area are used to detect (find) and diagnose ovarian, fallopian tube, and peritoneal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - CA 125 assay : A test that measures the level of CA 125 in the blood. CA 125 is a substance released by cells into the bloodstream. An increased CA 125 level can be a sign of cancer or another condition such as endometriosis. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs in the abdomen, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. Some patients may have a transvaginal ultrasound. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A very small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue is usually removed during surgery to remove the tumor.",31010 Does pharmacologic stress echocardiography predict total mortality early after acute myocardial infarction?,"In survivors of a first acute uncomplicated MI DET allows effective risk stratification on the basis of the presence, severity, and extent the induced ischemia.",31011 What causes Syndrome of inappropriate antidiuretic hormone ?,"Many things can cause syndrome of inappropriate antidiuretic hormone (SIADH), including brain injury, brain infection, brain abscesses, subarachnoid hemorrhage, encephalitis, meningitis, Guillain-Barr syndrome, delirium tremens, multiple sclerosis, lung cancer, pancreatic cancer, thymoma, ovarian cancer, lymphoma, pneumonia, chronic obstructive pulmonary disease, lung abscess, tuberculosis, cystic fibrosis, surgery, and drugs. SIADH has also been reported in association with AIDS, temporal arteritis, polyarteritis nodosa, sarcoidosis, Rocky Mountain spotted fever, carcinoma of the cervix, olfactory neuroblastoma, and herpes zoster infection of the chest wall. Often the underlying cause of the condition can not be determined. In these cases the condition is said to be idiopathic.",31012 Do evaluation of lure dispensers for fruit fly surveillance in New Zealand?,"Release rate and trapping experiments found new lure dispensers differed in release rate characteristics from existing dispensers under temperate and subtropical conditions, and indicated some potential for improvement in surveillance efficacy.",31013 Are sex and hand differences in circadian wrist activity independent from sex and hand differences in 2D:4D?,Sex and hand differences for digit ratio and acrophase replicated previous findings. The lack of correlation between digit ratio and patterns of wrist activity suggests that sexually dimorphic circadian activity develops independently from the mechanisms of hormone exposure that cause sex differences in digit ratio.,31014 Does chronic angiotensin AT2R activation prevent high-fat diet-induced adiposity and obesity in female mice independent of estrogen?,We suggest that the pharmacological activation of AT2R by the agonist C21 reduces adiposity and body weight gain independent of estrogen in female mice. Improvement in fatty acid metabolism is a potential mechanism by which the AT2R exerts anti-adiposity effects.,31015 What are the treatments for Lenz microphthalmia syndrome ?,These resources address the diagnosis or management of Lenz microphthalmia syndrome: - Gene Review: Gene Review: Lenz Microphthalmia Syndrome - Genetic Testing Registry: Lenz microphthalmia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,31016 Do you have information about E-Cigarettes,"Summary : E-cigarettes, or electronic cigarettes, are battery-operated smoking devices. They often look like cigarettes, but work differently. Using an e-cigarette is called vaping. The user puffs on the mouthpiece of a cartridge. This causes a vaporizer to heat the liquid inside the cartridge. The liquid contains nicotine, flavorings, and other chemicals. The heated liquid turns into the vapor that is inhaled. Some people think that e-cigarettes are safer than cigarettes, and that they can be used to help people quit smoking. But not much is known about the health risks of using them, or whether they do help people quit smoking. However we do know about some dangers of e-cigarettes: - They contain nicotine, which is addictive - They contain other potentially harmful chemicals - There is a link between e-cigarette use and tobacco cigarette use in teens - The liquid in e-cigarettes can cause nicotine poisoning if someone drinks, sniffs, or touches it NIH: National Institute on Drug Abuse",31017 Does health correlate of co-occurring substance use for women with HIV in cocaine use recovery?,"Women in recovery with HIV who have co-occurring cocaine use and opioid use disorders were more likely to have several indicators of worse mental and physical health. Interventions may need to be tailored to meet the needs of this subgroup of women. Future research should examine whether these co-occurring conditions are associated with greater likelihood of relapse or poor treatment response, and whether this higher-risk profile exists in other groups.",31018 What are the symptoms of Chondrosarcoma ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Chondrosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31019 Is combination of intravesical prostatic protrusion and resistive index useful to predict bladder outlet obstruction in patients with lower urinary tract symptoms suggestive of benign prostatic hyperplasia?,"Intravesical prostatic protrusion and resistive index are useful parameters for predicting bladder outlet obstruction in patients with lower urinary tract symptoms suggestive of benign prostatic hyperplasia. In clinical practice, the combination of intravesical prostatic protrusion and resistive index on ultrasound can be diagnostic of bladder outlet obstruction.",31020 "What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?","Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids. People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF). This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern.",31021 Is high expression of HER3 associated with a decreased survival in gastric cancer?,HER3 overexpression is strongly associated with tumor progression and poor prognosis of patients with gastric cancer. It may become a new prognostic factor and a target of treatment.,31022 Does [ 17β‑estradiol suppress hyperoxia‑induced apoptosis of oligodendrocyte precursor cells through paired‑immunoglobulin‑like receptor B ]?,E2 can protect OPCs from hyperoxia-induced apoptosis.,31023 Does btk inhibition suppress agonist-induced human macrophage activation and inflammatory gene expression in RA synovial tissue explants?,"Btk is expressed equivalently in RA and PsA synovial tissue, primarily in macrophages. Btk activity is needed to drive macrophage activation in response to multiple agonists relevant to inflammatory arthritis, and promotes RA synovial tissue cytokine and MMP production. Pharmacological targeting of Btk may be of therapeutic benefit in the treatment of RA and other inflammatory diseases.",31024 What are the genetic changes related to spinocerebellar ataxia type 6 ?,"Mutations in the CACNA1A gene cause SCA6. The CACNA1A gene provides instructions for making a protein that forms a part of some calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The CACNA1A gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV2.1. CaV2.1 channels play an essential role in communication between neurons in the brain. The CACNA1A gene mutations that cause SCA6 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 4 to 18 times within the gene. In people with SCA6, the CAG segment is repeated 20 to 33 times. People with 20 repeats tend to experience signs and symptoms of SCA6 beginning in late adulthood, while people with a larger number of repeats usually have signs and symptoms from mid-adulthood. An increase in the length of the CAG segment leads to the production of an abnormally long version of the alpha-1 subunit. This version of the subunit alters the location and function of the CaV2.1 channels. Normally the alpha-1 subunit is located within the cell membrane; the abnormal subunit is found in the cell membrane as well as in the fluid inside cells (cytoplasm), where it clusters together and forms clumps (aggregates). The effect these aggregates have on cell functioning is unknown. The lack of normal calcium channels in the cell membrane impairs cell communication between neurons in the brain. Diminished cell communication leads to cell death. Cells within the cerebellum, which is the part of the brain that coordinates movement, are particularly sensitive to the accumulation of these aggregates. Over time, a loss of cells in the cerebellum causes the movement problems characteristic of SCA6.",31025 Who is at risk for Hemochromatosis? ?,"Hemochromatosis is one of the most common genetic diseases in the United States. It's most common in Caucasians of Northern European descent. The disease is less common in African Americans, Hispanics, Asians, and American Indians. Primary hemochromatosis is more common in men than in women. Also, older people are more likely to develop the disease than younger people. In fact, signs and symptoms usually don't occur in men until they're 40 to 60 years old. In women, signs and symptoms usually don't occur until after the age of 50 (after menopause). Young children rarely develop hemochromatosis. Inheriting two faulty HFE genes (one from each parent) is the major risk factor for hemochromatosis. However, many people who have two copies of the faulty gene don't develop signs or symptoms of the disease. Alcoholism is another risk factor for hemochromatosis. A family history of certain diseases and conditions also puts you at higher risk for hemochromatosis. Examples of such diseases and conditions include heart attack, liver disease, diabetes, arthritis, and erectile dysfunction (impotence).",31026 What is (are) Fibromuscular Dysplasia ?,"Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. A characteristic string of beads pattern caused by the alternating narrowing and enlarging of the artery can block or reduce blood flow to the brain, causing a stroke or mini-stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in persons age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. An angiogram can detect the degree of narrowing or obstruction of the artery and identify changes such as a tear (dissection) or weak area (aneurysm) in the vessel wall. FMD can also be diagnosed using computed tomography, magnetic resonance imaging, or ultrasound.",31027 Do time to analgesia and pain score documentation best practice standards for the Emergency Department - A literature review?,"Whilst there is an abundance of evidence available on the current practice and challenges of quality acute pain management in the ED, there is a lack of well-controlled studies on best practice standards for health care services to benchmark their practice and improve. Mandating pain score reporting, pain assessment and reassessment within specific timeframes and analgesia administration within 30 min of arrival is highly recommended. The implementation of nurse led analgesia protocols should be encouraged to increase incidence of documented pain assessment and reduce time to analgesia.",31028 "What are the treatments for Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?","Treatment options that have been successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine.",31029 How many people are affected by congenital insensitivity to pain with anhidrosis ?,"CIPA is a rare condition; however, the prevalence is unknown.",31030 Is responsiveness to IL-7 but not to IFN-α diminished in CD4+ T cells from treated HIV infected patients who experience poor CD4+ T-cell recovery?,IL-7 responsiveness is impaired in immune failure patients and may be related to expression of CD127 and IFN-α.,31031 What are the genetic changes related to Hashimoto thyroiditis ?,"Hashimoto thyroiditis is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Hashimoto thyroiditis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with Hashimoto thyroiditis, white blood cells called lymphocytes accumulate abnormally in the thyroid, which can damage it. The lymphocytes make immune system proteins called antibodies that attack and destroy thyroid cells. When too many thyroid cells become damaged or die, the thyroid can no longer make enough hormones to regulate body functions. This shortage of thyroid hormones underlies the signs and symptoms of Hashimoto thyroiditis. However, some people with thyroid antibodies never develop hypothyroidism or experience any related signs or symptoms. People with Hashimoto thyroiditis have an increased risk of developing other autoimmune disorders, including vitiligo, rheumatoid arthritis, Addison disease, type 1 diabetes, multiple sclerosis, and pernicious anemia. Variations in several genes have been studied as possible risk factors for Hashimoto thyroiditis. Some of these genes are part of a family called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Other genes that have been associated with Hashimoto thyroiditis help regulate the immune system or are involved in normal thyroid function. Most of the genetic variations that have been discovered are thought to have a small impact on a person's overall risk of developing this condition. Other, nongenetic factors also play a role in Hashimoto thyroiditis. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), viral infections, certain medications, exposure to ionizing radiation, and excess consumption of iodine (a substance involved in thyroid hormone production).",31032 What is (are) leptin receptor deficiency ?,"Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret. People with leptin receptor deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).",31033 What is (are) familial cold autoinflammatory syndrome ?,"Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life. People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. Symptoms may be delayed for up to a few hours after the cold exposure. Episodes last an average of 12 hours, but may continue for up to 3 days. In people with familial cold autoinflammatory syndrome, the most common symptom that occurs during an episode is an itchy or burning rash. The rash usually begins on the face or extremities and spreads to the rest of the body. Occasionally swelling in the extremities may occur. In addition to the skin rash, episodes are characterized by fever, chills, and joint pain, most often affecting the hands, knees, and ankles. Redness in the whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and nausea may also occur during an episode of this disorder.",31034 Does dual variation in SCN5A and CACNB2b underlie the development of cardiac conduction disease without Brugada syndrome?,"Our results suggest genetic variations leading to a loss-of-function in I(Na) coupled with a gain of function in I(Ca,L) may underlie the development of cardiac conduction disease without BrS.",31035 Does phenolic content of virgin olive oil improve ischemic reactive hyperemia in hypercholesterolemic patients?,A meal containing high-phenolic virgin olive oil improves ischemic reactive hyperemia during the postprandial state. This phenomenon might be mediated via reduction in oxidative stress and the increase of nitric oxide metabolites.,31036 Are tfh and plasma cells correlated with hypergammaglobulinaemia in patients with autoimmune hepatitis?,Circulating activated Tfh and plasma cells may be associated with hypergammaglobulinaemia during the pathogenic process of AIH in humans.,31037 Does miRNA-497 regulate cell growth and invasion by targeting cyclin E1 in breast cancer?,"MiR-497 may act as a tumor suppressor gene in breast cancer. Inhibited cellular growth, suppressed cellular migration and invasion, and G1 cell cycle arrest were observed upon overexpression of miR-497 in cells, possibly by targeting cyclin E1. These results indicate miR-497 could be considered a therapeutic target for the development of treatment for breast cancer.",31038 Is cognition modified by large but temporary changes in sex hormones in men?,"A significant change in sex hormone status, including complete hypogonadism, does not modify cognition in men. These findings, along with studies that show a risk for neurodegenerative disease in those with low testosterone, suggest that sex hormone status may be important for neuroprotection in aging but not modulation of normal day-to-day cognitive function.",31039 What is (are) Guanidinoacetate methyltransferase deficiency ?,"Guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. Affected people may begin showing symptoms of the condition from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limited to a few words, behavioral problems (i.e. hyperactivity, autistic behaviors, self-mutilation), and involuntary movements. Guanidinoacetate methyltransferase deficiency is caused by changes (mutations) in the GAMT gene and is inherited in an autosomal recessive manner. Treatment aims to increase the levels of creatine in the brain through supplementation with high doses of oral creatine monohydrate.",31040 What is (are) Poisoning ?,"A poison is any substance that is harmful to your body. You might swallow it, inhale it, inject it, or absorb it through your skin. Any substance can be poisonous if too much is taken. Poisons can include - Prescription or over-the-counter medicines taken in doses that are too high - Overdoses of illegal drugs - Carbon monoxide from gas appliances - Household products, such as laundry powder or furniture polish - Pesticides - Indoor or outdoor plants - Metals such as lead and mercury The effects of poisoning range from short-term illness to brain damage, coma, and death. To prevent poisoning it is important to use and store products exactly as their labels say. Keep dangerous products where children can't get to them. Treatment for poisoning depends on the type of poison. If you suspect someone has been poisoned, call your local poison control center right away.",31041 What is (are) Urinary Incontinence in Men ?,"The prostate is a walnut-shaped gland that is part of the male reproductive system. The prostate has two or more lobes, or sections, enclosed by an outer layer of tissue. Located in front of the rectum and just below the bladder, the prostate surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen.",31042 What is (are) Dwarfism ?,"Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10"" or shorter. Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and a normal life expectancy.",31043 What are the symptoms of Cleft palate short stature vertebral anomalies ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate short stature vertebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the metacarpal bones 90% Aganglionic megacolon 90% Brachydactyly syndrome 90% Carious teeth 90% Cleft palate 90% Cognitive impairment 90% Delayed skeletal maturation 90% Epicanthus 90% Genu recurvatum 90% Low-set, posteriorly rotated ears 90% Scoliosis 90% Short neck 90% Short nose 90% Short stature 90% Vertebral segmentation defect 90% Abnormality of bone mineral density 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Anteverted nares 50% Congenital diaphragmatic hernia 50% Facial asymmetry 50% Joint hypermobility 50% Laryngomalacia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Thin vermilion border 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31044 What is (are) Mulibrey Nanism ?,"Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. It is caused by mutations in the TRIM37 gene and is inherited in an autosomal recessive manner. Treatment may include surgery for constrictive pericarditis, medications for progressive heart failure and hormone replacement therapy.",31045 What is (are) ALG12-congenital disorder of glycosylation ?,"ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures. Some people with ALG12-CDG have physical abnormalities such as a small head size (microcephaly) and unusual facial features. These features can include folds of skin that cover the inner corners of the eyes (epicanthal folds), a prominent nasal bridge, and abnormally shaped ears. Some males with ALG12-CDG have abnormal genitalia, such as a small penis (micropenis) and undescended testes. People with ALG12-CDG often produce abnormally low levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies can make it difficult for affected individuals to fight infections. Less common abnormalities seen in people with ALG12-CDG include a weakened heart muscle (cardiomyopathy) and poor bone development, which can lead to skeletal abnormalities.",31046 Are 2-Chloroprocaine and bupivacaine unreliable indicators of intravascular injection in the premedicated patient?,"While 90 mg 2-CP or 25 mg B may be reliable alternatives to epinephrine test doses in unpremedicated subjects, they are unreliable indicators of intravascular injection in the premedicated patient.",31047 Are thrombocytes effectors of the innate immune system releasing human beta defensin-3?,With this study we demonstrate antimicrobial action of a popular adjunct for orthopaedic and trauma surgery against gram-positive and gram-negative bacteria. We have identified a possible mechanism of action via the secretion of HBD-3 as a first line defence in contaminated wounds and in elective application of PRP. This finding supports a broader spectrum of clinical indications for an autologous platelet preparation.,31048 What are the symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease with ptosis and parkinsonism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal atrioventricular conduction - Atrioventricular block - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal loss - Central hypoventilation - Chronic diarrhea - Chronic sensorineural polyneuropathy - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Dementia - Distal amyotrophy - Enhanced neurotoxicity of vincristine - Gliosis - Hyperhidrosis - Hyperreflexia - Nausea - Orthostatic hypotension - Parkinsonism - Penetrating foot ulcers - Peroneal muscle atrophy - Peroneal muscle weakness - Pes cavus - Ptosis - Sensory neuropathy - Trophic limb changes - Vomiting - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31049 Does robust HCV Genotype 3a Infectious Cell Culture System permit Identification of Escape Variants With Resistance to Sofosbuvir?,"We developed a system for highly efficient culture of HCV genotype 3a. Genotype 1a has a high genetic barrier to resistance for sofosbuvir, whereas resistance to this DAA can be induced in genotype 3a. We therefore isolated HCV genotype 3a variants with reduced sensitivity to sofosbuvir, with increased fitness and with cross-resistance to other NS5B inhibitors. These findings indicate that sofosbuvir escape variants could compromise the effectiveness of nucleotide analogs against HCV. GenBank accession numbers: KX280712-KX280716.",31050 Are systemic changes in haemostatic balance associated with increased levels of circulating microparticles in women with recurrent spontaneous abortion?,"The present study shows that circulating MPs are not directly associated with the extent of systemic coagulation activation in RSA patients. We hypothesize that increased numbers of circulating MPs either are only indirectly associated with coagulation during pregnancy of RSA patients, or affect abortion via mechanisms independently from hypercoagulation.",31051 Does sex influence the effect of body mass index on the vascular response to angiotensin II in humans?,Sex influences the effect of adiposity on vascular angiotensin-responsiveness.,31052 Is wnt/beta-catenin involved in the proliferation of hippocampal neural stem cells induced by hypoxia?,Hypoxia could enhance the proliferation of hippocampal NSCs and β-catenin contributed to this action.,31053 Is the risk of paradoxical levetiracetam effect increased in mentally retarded patients?,"Because there is an increased risk of worsening epilepsy when starting levetiracetam treatment of mentally retarded epileptic patients, there is a need for caution and close observation during the first weeks of therapy.",31054 What is (are) Congenital myasthenic syndrome ?,"Congenital myasthenic syndrome (CMS) is a group of genetic disorders that result in muscle weakness and fatigue. Symptoms can range from mild weakness to progressive disabling weakness. There are three main subtypes of CMS, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). Identification of the specific subtype is important in patient care for determining the most effective treatment. Mutations in many genes have been found to cause CMS, and most forms of CMS are inherited in an autosomal recessive pattern. One form of CMS, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner.",31055 What are the symptoms of Deafness enamel hypoplasia nail defects ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness enamel hypoplasia nail defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of dental enamel 90% Abnormality of nail color 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Diabetes mellitus 90% Pili torti 90% Sensorineural hearing impairment 90% Taurodontia 90% Arrhythmia 50% Large hands 50% Primary amenorrhea 50% Round face 50% Short stature 50% Acanthosis nigricans 7.5% Camptodactyly of finger 7.5% Cerebral calcification 7.5% Delayed skeletal maturation 7.5% High anterior hairline 7.5% Ichthyosis 7.5% Muscle weakness 7.5% Peripheral neuropathy 7.5% Macular dystrophy 5% Amelogenesis imperfecta - Autosomal recessive inheritance - Hypoplasia of dental enamel - Leukonychia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31056 Is Sjgren syndrome inherited ?,"A predisposition to develop autoimmune disorders can be passed through generations in families. Relatives of people with Sjgren syndrome are at an increased risk of developing autoimmune diseases, although they are not necessarily more likely to develop Sjgren syndrome in particular. The inheritance pattern of this predisposition is unknown.",31057 What are the genetic changes related to Joubert syndrome ?,"Joubert syndrome and related disorders can be caused by mutations in at least 10 genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. Cilia are important for the structure and function of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell). Mutations in the genes associated with Joubert syndrome and related disorders lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during development. Although researchers believe that defective cilia are responsible for most of the features of these disorders, it remains unclear how they lead to specific developmental abnormalities. Mutations in the 10 genes known to be associated with Joubert syndrome and related disorders only account for about half of all cases of these conditions. In the remaining cases, the genetic cause is unknown.",31058 What are the genetic changes related to hepatic veno-occlusive disease with immunodeficiency ?,"VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria). Mutations in the SP110 gene prevent cells from making functional SP110 nuclear body protein, which impairs the immune system's ability to fight off infections. It is unclear how a lack of this protein affects blood flow in the liver.",31059 Who is at risk for Sexual and Urologic Problems of Diabetes? ?,"Risk factors are conditions that increase the chances of getting a particular disease. The more risk factors people have, the greater their chances of developing that disease or condition. Diabetic neuropathy and related sexual and urologic problems appear to be more common in people who - have poor blood glucose control - have high levels of blood cholesterol - have high blood pressure - are overweight - are older than 40 - smoke - are physically inactive",31060 What is (are) Varicose Veins ?,"Varicose veins are swollen, twisted veins that you can see just under the skin. They usually occur in the legs, but also can form in other parts of the body. Hemorrhoids are a type of varicose vein. Your veins have one-way valves that help keep blood flowing toward your heart. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell, which can lead to varicose veins. Varicose veins are very common. You are more at risk if you are older, a female, obese, don't exercise or have a family history. They can also be more common in pregnancy. Doctors often diagnose varicose veins from a physical exam. Sometimes you may need additional tests. Exercising, losing weight, elevating your legs when resting, and not crossing them when sitting can help keep varicose veins from getting worse. Wearing loose clothing and avoiding long periods of standing can also help. If varicose veins are painful or you don't like the way they look, your doctor may recommend procedures to remove them. NIH: National Heart, Lung, and Blood Institute",31061 What are the treatments for Pantothenate kinase-associated neurodegeneration ?,"Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the most effective drugs for the dystonia and spasticity associated with this condition. Botulinum toxin may be helpful for many affected individuals, especially in treating a limited body region. For example, injections in the facial muscles can greatly improve speech and eating abilities. Those with PKAN typically do not benefit from L-dopa. Deep brain stimulation (DBS) is also an option for relieving some symptoms; an international study of the effectiveness of DBS is currently underway. Recently, interest in chelating agents (agents that remove iron from the body) has also been revived, although the benefits have not yet been documented and systemic anemia remains a risk. A trial using deferriprone (a chelator) in PKAN is currently underway in Italy. Click on the link to learn more about this study.",31062 What is (are) IgA Nephropathy ?,"IgA nephropathy, also known as Bergers disease, is a kidney disease that occurs when IgA deposits build up in the kidneys, causing inflammation that damages kidney tissues. IgA is an antibodya protein made by the immune system to protect the body from foreign substances such as bacteria or viruses. Most people with IgA nephropathy receive care from a nephrologist, a doctor who specializes in treating people with kidney disease.",31063 Do advanced glycation end products in extracellular matrix proteins contribute to the failure of sensory nerve regeneration in diabetes?,Early glycation and AGE residue content of endoneurial ECM proteins increase markedly in STZ-induced diabetes. Glycation of laminin and fibronectin causes a reduction in neurotrophin-stimulated neurite outgrowth and preconditioned neurite outgrowth. This may provide a mechanism for the failure of collateral sprouting and axonal regeneration in diabetic neuropathy.,31064 How many people are affected by dermatofibrosarcoma protuberans ?,"Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 in 1 million people per year.",31065 Does the length of proximal margin influence the prognosis of Siewert type II/III adenocarcinoma of esophagogastric junction after transhiatal curative gastrectomy?,"For Siewert type II/III AEJ with esophageal invasion of 3 cm or less, proximal margin length does not influence the prognosis of patients after transhiatal curative gastrectomy.",31066 Does myelin breakdown mediate age-related slowing in cognitive processing speed in healthy elderly men?,"In this very healthy elderly sample, age-related slowing in CPS is mediated by myelin breakdown in highly vulnerable late-myelinating regions but not in the splenium.",31067 What are the genetic changes related to osteoglophonic dysplasia ?,"Osteoglophonic dysplasia is caused by mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1. This protein is one of four fibroblast growth factor receptors, which are related proteins that bind (attach) to other proteins called fibroblast growth factors. The growth factors and their receptors are involved in important processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development. In particular, they play a major role in skeletal development. The FGFR1 protein spans the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. When a fibroblast growth factor binds to the part of the FGFR1 protein outside the cell, the receptor triggers a cascade of chemical reactions inside the cell that instruct the cell to undergo certain changes, such as maturing to take on specialized functions. The FGFR1 protein is thought to play an important role in the development of the nervous system. This protein may also help regulate the growth of long bones, such as the large bones in the arms and legs. FGFR1 gene mutations that cause osteoglophonic dysplasia change single building blocks (amino acids) in the FGFR1 protein. The altered FGFR1 protein appears to cause prolonged signaling, which promotes premature fusion of bones in the skull and disrupts the regulation of bone growth in the arms and legs.",31068 Does comparative genomic hybridization show complex genomic changes of plasmacytoid urothelial carcinoma?,"In PUCs, the frequency of aneuploidy and the complexity of genomic changes per tumor are greater than those described in conventional UC. The aberrations described in PUC involve the same regions that are associated with aggressive biological behavior in conventional UC. Gains on 11q, 17q, 17p, and 20q and losses on 4q and 6q affect most PUCs and seem to harbor important chromosomal regions for PUC carcinogenesis. Large-scale deletions on chromosome 9 were not detected. CNV analysis indicates heterozygous deletion of CDH1 as one underlying mechanism of loss of membranous E-cadherin in PUC. Loss of CCND1 and SNAI1 is a common molecular feature and could contribute to the aggressive biological behavior of PUC.",31069 What is (are) Acquired Cystic Kidney Disease ?,"Acquired cystic kidney disease happens when a person's kidneys develop fluid-filled sacs, called cysts, over time. Acquired cystic kidney disease is not the same as polycystic kidney disease (PKD), another disease that causes the kidneys to develop multiple cysts. Acquired cystic kidney disease occurs in children and adults who have - chronic kidney disease (CKD)a condition that develops over many years and may lead to end-stage kidney disease, or ESRD. The kidneys of people with CKD gradually lose their ability to filter wastes, extra salt, and fluid from the blood properly. - end-stage kidney diseasetotal and permanent kidney failure that requires a kidney transplant or blood-filtering treatments called dialysis. The cysts are more likely to develop in people who are on kidney dialysis. The chance of developing acquired cystic kidney disease increases with the number of years a person is on dialysis. However, the cysts are caused by CKD or kidney failure, not dialysis treatments. More information is provided in the NIDDK health topics, kidney failureand dialysis.",31070 What is (are) Endometrial Cancer ?,"Key Points - Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. - Endometrial cancer is the most common invasive cancer of the female reproductive system. Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. The endometrium is the lining of the uterus. The uterus is part of the female reproductive system. It is a hollow, pear-shaped, muscular organ in the pelvis, where a fetus grows. Cancer of the endometrium is different from cancer of the muscle of the uterus, which is called sarcoma of the uterus. See the PDQ summary on Uterine Sarcoma Treatment for more information. See the following PDQ summaries for more information about endometrial cancer: - Endometrial Cancer Screening - Endometrial Cancer Treatment Endometrial cancer is the most common invasive cancer of the female reproductive system. Endometrial cancer is diagnosed most often in postmenopausal women at an average age of 60 years . From 2004 to 2013, the number of new cases of endometrial cancer increased slightly in white and African American women. From 2005 to 2014, the number of deaths from endometrial cancer also increased slightly in white and African American women. Compared with white women, rates of endometrial cancer are lower in Japanese Americans and in Latinas. The rates of endometrial cancer in white women are about the same as in African Americans or in native Hawaiians. The number of deaths from endometrial cancer is higher in African American women compared with women of other races.",31071 What are the treatments for Pseudoxanthoma elasticum ?,"Unfortunately, there is no cure for pseudoxanthoma elasticum. Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar with retinal disorders. A team of doctors in other specialties - including dermatology, cardiology, plastic surgery, vascular surgery, genetics, and nutrition - may also help with the management this condition. Individuals should be alert to changes in their vision and should inform their eye doctor of any such changes. Several therapies may be effective for slowing the reduction in vision in PXE. Surgery may help to reduce skin symptoms, gastrointestinal symptoms, or severe vascular symptoms in the legs.",31072 What is (are) Angelman syndrome ?,"Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual. With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as ""coarse."" Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.",31073 Are zinc absorption and zinc status reduced after Roux-en-Y gastric bypass : a randomized study using 2 supplements?,"Zinc status is impaired after RYGBP, despite the finding that dietary plus supplemental zinc doubled recommended zinc intakes in healthy persons. Zinc absorption capacity is significantly reduced soon after RYGBP, with no major changes until 18 mo after surgery.",31074 What to do for Causes of Diabetes ?,"- Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. - Insulin is a hormone made by beta cells in the pancreas. Insulin helps cells throughout the body absorb and use glucose for energy. If the body does not produce enough insulin or cannot use insulin effectively, glucose builds up in the blood instead of being absorbed by cells in the body, and the body is starved of energy. - Prediabetes is a condition in which blood glucose levels or A1C levels are higher than normal but not high enough to be diagnosed as diabetes. People with prediabetes can substantially reduce their risk of developing diabetes by losing weight and increasing physical activity. - The two main types of diabetes are type 1 diabetes and type 2 diabetes. Gestational diabetes is a third form of diabetes that develops only during pregnancy. - Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. - Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. - Scientists believe gestational diabetes is caused by the hormonal changes and metabolic demands of pregnancy together with genetic and environmental factors. Risk factors for gestational diabetes include being overweight and having a family history of diabetes. - Monogenic forms of diabetes are relatively uncommon and are caused by mutations in single genes that limit insulin production, quality, or action in the body. - Other types of diabetes are caused by diseases and injuries that damage the pancreas; certain chemical toxins and medications; infections; and other conditions.",31075 Is nonmelanoma skin cancer associated with reduced Alzheimer disease risk?,"This population-based longitudinal study shows that individuals older than 70 years with NMSC have a significantly reduced risk of developing AD compared with individuals without NMSC. We deduce Alzheimer-specific neuroprotection, because the effect is attenuated or eliminated when considering less-specific diagnoses such as AD with another diagnosis (any AD) or all-cause dementia.",31076 Is autosomal recessive cerebellar ataxia type 1 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",31077 What are the symptoms of Syndactyly type 9 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Adactyly 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Toe syndactyly 90% Clinodactyly of the 5th finger 50% Symphalangism affecting the phalanges of the hand 50% Synostosis of carpal bones 50% 3-4 finger syndactyly - Aplasia/Hypoplasia of the hallux - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Autosomal recessive inheritance - Proximal/middle symphalangism of 5th finger - Single transverse palmar crease - Symphalangism affecting the phalanges of the hallux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31078 Do m2-polarized macrophages promote metastatic behavior of Lewis lung carcinoma cells by inducing vascular endothelial growth factor-C expression?,"M2-polarized macrophages promoted the metastatic behavior of Lewis cells by inducing vascular endothelial growth factor-C expression. Thus, the interruption of signaling between M2 macrophages and Lewis cells may be considered to be a new therapeutic strategy.",31079 what research (or clinical trials) is being done for Oropharyngeal Cancer ?,"New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",31080 Does doc2b enrichment enhance glucose homeostasis in mice via potentiation of insulin secretion and peripheral insulin sensitivity?,Doc2b is a limiting factor in SNARE exocytosis events pertinent to glycaemic regulation in vivo. Doc2b enrichment may provide a novel means to simultaneously boost islet and skeletal muscle function in vivo in the treatment and/or prevention of diabetes.,31081 Do serum hepcidin-25 levels predict the progression of renal anemia in patients with non-dialysis chronic kidney disease?,"Higher hepcidin-25 levels predict the progression of anemia in non-dialysis CKD patients with sufficient iron stores, indicating the involvement of hepcidin in the progression of anemia in non-dialysis CKD patients.",31082 What is (are) Hemoglobin E disease ?,"Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. It is inherited in an autosomal recessive pattern and is caused by a particular mutation in the HBB gene. The mutation that causes hemoglobin E disease has the highest frequency among people of Southeast Asian heritage (Cambodian, Laotian, Vietnamese and Thai). However, it is also found in people of Chinese, Filipino, Asiatic Indian, and Turkish descent.",31083 Are simple measures as effective as invasive techniques in the diagnosis of pulmonary tuberculosis in Malawi?,"For countries such as Malawi, the best use of limited resources to detect smear-positive PTB cases would be to improve the quality of self-expectorated sputum collection and microscopy. The additional diagnostic yield using BAL after induced sputum is limited.",31084 What are the treatments for Type 1 plasminogen deficiency ?,"The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. Recurrence has been prevented by daily injections with plasminogen sufficient to achieve plasma concentrations to approximately 40% of the normal amount of plasminogen. Treatment with topical plasminogen has also been successful and resulted in dramatic improvement and complete resolution of the membranes. In some women, treatment with oral contraceptives have resulted in an increase in the levels of plasminogen and some resolution of the pseudomembrane.",31085 Is hMG-coenzyme a reductase inhibitor use associated with mortality reduction in hemodialysis patients?,"Statin prescription is associated with reduced mortality in HD patients, providing additional support for the value of statin therapy in this patient group.",31086 How many people are affected by cranioectodermal dysplasia ?,Cranioectodermal dysplasia is a rare condition with an unknown prevalence. Approximately 40 cases of this condition have been described in the medical literature.,31087 Is loss of TBK1 a frequent cause of frontotemporal dementia in a Belgian cohort?,"TBK1 LOF mutations are the third most frequent cause of clinical FTD in the Belgian clinically based patient cohort, after C9orf72 and GRN, and the second most common cause of clinical ALS after C9orf72. These findings reinforce that FTD and ALS belong to the same disease continuum.",31088 Does effectiveness of Using Dual-source CT and the Upshot it create on Both Heart Rate and Image Quality?,"CTA with a high pitch value is a reliable, non-invasive diagnostic method that can CAD with low radiation doses not only in patients with a heart rate below 70 bpm, but also in patients with higher heart rates.",31089 Does low hematocrit impair gastric mucosal CO2 removal during experimental severe normovolemic hemodilution?,"Global and regional hemodynamic stability were maintained after moderate and severe hemodilution. However, a very low hematocrit induced gastric mucosal acidosis, suggesting that gastric mucosal CO2 monitoring may be useful during major surgery or following trauma.",31090 What is (are) Multiple mitochondrial dysfunctions syndrome ?,"Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems. Due to the severity of the condition, most affected babies do not live past infancy. MMDS can be caused by changes (mutations) in the NFU1 gene or the BOLA3 gene. In these cases, the condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",31091 "What are the symptoms of Refsum disease, infantile form ?","The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Hepatomegaly 90% Nyctalopia 90% Short stature 90% Skeletal muscle atrophy 90% Visual impairment 90% Behavioral abnormality 50% Hypertonia 50% Incoordination 50% Muscular hypotonia 50% Nystagmus 50% Sensorineural hearing impairment 50% Abnormality of epiphysis morphology 7.5% Arrhythmia 7.5% Cataract 7.5% Facial palsy 7.5% Hypertrophic cardiomyopathy 7.5% Ichthyosis 7.5% Optic atrophy 7.5% Seizures 7.5% Abnormal bleeding - Abnormal electroretinogram - Abnormal facial shape - Autosomal recessive inheritance - Congenital onset - Depressed nasal ridge - Failure to thrive - Flat face - Hypocholesterolemia - Hyporeflexia - Intellectual disability - Malar flattening - Osteoporosis - Polyneuropathy - Rod-cone dystrophy - Single transverse palmar crease - Steatorrhea - Very long chain fatty acid accumulation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31092 What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Autonomic neuropathy affects the nerves that control the heart, regulate blood pressure, and control blood glucose levels. Autonomic neuropathy also affects other internal organs, causing problems with digestion, respiratory function, urination, sexual response, and vision. In addition, the system that restores blood glucose levels to normal after a hypoglycemic episode may be affected, resulting in loss of the warning symptoms of hypoglycemia. Hypoglycemia Unawareness Normally, symptoms such as shakiness, sweating, and palpitations occur when blood glucose levels drop below 70 mg/dL. In people with autonomic neuropathy, symptoms may not occur, making hypoglycemia difficult to recognize. Problems other than neuropathy can also cause hypoglycemia unawareness. Heart and Blood Vessels The heart and blood vessels are part of the cardiovascular system, which controls blood circulation. Damage to nerves in the cardiovascular system interferes with the body's ability to adjust blood pressure and heart rate. As a result, blood pressure may drop sharply after sitting or standing, causing a person to feel light-headed or even to faint. Damage to the nerves that control heart rate can mean that the heart rate stays high, instead of rising and falling in response to normal body functions and physical activity. Digestive System Nerve damage to the digestive system most commonly causes constipation. Damage can also cause the stomach to empty too slowly, a condition called gastroparesis. Severe gastroparesis can lead to persistent nausea and vomiting, bloating, and loss of appetite. Gastroparesis can also make blood glucose levels fluctuate widely, due to abnormal food digestion. Nerve damage to the esophagus may make swallowing difficult, while nerve damage to the bowels can cause constipation alternating with frequent, uncontrolled diarrhea, especially at night. Problems with the digestive system can lead to weight loss. Urinary Tract and Sex Organs Autonomic neuropathy often affects the organs that control urination and sexual function. Nerve damage can prevent the bladder from emptying completely, allowing bacteria to grow in the bladder and kidneys and causing urinary tract infections. When the nerves of the bladder are damaged, urinary incontinence may result because a person may not be able to sense when the bladder is full or control the muscles that release urine. Autonomic neuropathy can also gradually decrease sexual response in men and women, although the sex drive may be unchanged. A man may be unable to have erections or may reach sexual climax without ejaculating normally. A woman may have difficulty with arousal, lubrication, or orgasm. Sweat Glands Autonomic neuropathy can affect the nerves that control sweating. When nerve damage prevents the sweat glands from working properly, the body cannot regulate its temperature as it should. Nerve damage can also cause profuse sweating at night or while eating. Eyes Finally, autonomic neuropathy can affect the pupils of the eyes, making them less responsive to changes in light. As a result, a person may not be able to see well when a light is turned on in a dark room or may have trouble driving at night.",31093 Do multiresolution edge detection using enhanced fuzzy c-means clustering for ultrasound image speckle reduction?,"A new wavelet-based EFCM clustering model was introduced toward noise reduction and detail preservation. The proposed method improves the overall US image quality, which in turn could affect the decision-making on whether additional imaging and/or intervention is needed.",31094 What are the symptoms of Typhoid Fever ?,"Persons with typhoid fever usually have a sustained fever as high as 103° to 104° F (39° to 40° C). They may also feel weak, or have stomach pains, headache, or loss of appetite. In some cases, patients have a rash of flat, rose-colored spots. The only way to know for sure if an illness is typhoid fever is to have samples of stool or blood tested for the presence of Salmonella Typhi. Typhoid fever’s danger doesn’t end when symptoms disappear: Even if your symptoms seem to go away, you may still be carrying Salmonella Typhi. If so, the illness could return, or you could pass the disease to other people. In fact, if you work at a job where you handle food or care for small children, you may be barred legally from going back to work until a doctor has determined that you no longer carry any typhoid bacteria. If you are being treated for typhoid fever, it is important to do the following: Keep taking the prescribed antibiotics for as long as the doctor has asked you to take them. Wash your hands carefully with soap and water after using the bathroom, and do not prepare or serve food for other people. This will lower the chance that you will pass the infection on to someone else. Have your doctor perform a series of stool cultures to ensure that no Salmonella Typhi bacteria remain in your body.",31095 What are the treatments for FG syndrome ?,These resources address the diagnosis or management of FG syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: FG syndrome - Genetic Testing Registry: FG syndrome 2 - Genetic Testing Registry: FG syndrome 3 - Genetic Testing Registry: FG syndrome 4 - Genetic Testing Registry: FG syndrome 5 - MedlinePlus Encyclopedia: Corpus Callosum of the Brain (image) - MedlinePlus Encyclopedia: Imperforate Anus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,31096 Is the post-illumination pupil response reduced in glaucoma patients?,"This study demonstrates that there is a significant decrease in the ipRGC-mediated PIPR in glaucomatous patients when compared to age-matched controls. As the severity of the glaucomatous neuropathy increases, there is a correlated decrease in the PIPR. Therefore, this test has the potential for use as a clinical tool in evaluating patients with glaucoma.",31097 How many people are affected by familial atrial fibrillation ?,"Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies suggest that up to 30 percent of all people with atrial fibrillation may have a history of the condition in their family.",31098 How many people are affected by Hemorrhoids ?,About 75 percent of people will have hemorrhoids at some point in their lives.1 Hemorrhoids are most common among adults ages 45 to 65.2 Hemorrhoids are also common in pregnant women.,31099 What are the treatments for Thalassemias ?,"Treatments for thalassemias depend on the type and severity of the disorder. People who are carriers or who have alpha or beta thalassemia trait have mild or no symptoms. Theyll likely need little or no treatment. Doctors use three standard treatments for moderate and severe forms of thalassemia. These treatments include blood transfusions, iron chelation (ke-LAY-shun) therapy, and folic acid supplements. Other treatments have been developed or are being tested, but they're used much less often. Standard Treatments Blood Transfusions Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemias. This treatment gives you healthy red blood cells with normal hemoglobin. During a blood transfusion, a needle is used to insert an intravenous (IV) line into one of your blood vessels. Through this line, you receive healthy blood. The procedure usually takes 1 to 4 hours. Red blood cells live only for about 120 days. So, you may need repeated transfusions to maintain a healthy supply of red blood cells. If you have hemoglobin H disease or beta thalassemia intermedia, you may need blood transfusions on occasion. For example, you may have transfusions when you have an infection or other illness, or when your anemia is severe enough to cause tiredness. If you have beta thalassemia major (Cooley's anemia), youll likely need regular blood transfusions (often every 2 to 4 weeks). These transfusions will help you maintain normal hemoglobin and red blood cell levels. Blood transfusions allow you to feel better, enjoy normal activities, and live into adulthood. This treatment is lifesaving, but it's expensive and carries a risk of transmitting infections and viruses (for example, hepatitis). However, the risk is very low in the United States because of careful blood screening. For more information, go to the Health Topics Blood Transfusion article. Iron Chelation Therapy The hemoglobin in red blood cells is an iron-rich protein. Thus, regular blood transfusions can lead to a buildup of iron in the blood. This condition is called iron overload. It damages the liver, heart, and other parts of the body. To prevent this damage, doctors use iron chelation therapy to remove excess iron from the body. Two medicines are used for iron chelation therapy. Deferoxamine is a liquid medicine that's given slowly under the skin, usually with a small portable pump used overnight. This therapy takes time and can be mildly painful. Side effects include problems with vision and hearing. Deferasirox is a pill taken once daily. Side effects include headache, nausea (feeling sick to the stomach), vomiting, diarrhea, joint pain, and tiredness. Folic Acid Supplements Folic acid is a B vitamin that helps build healthy red blood cells. Your doctor may recommend folic acid supplements in addition to treatment with blood transfusions and/or iron chelation therapy. Other Treatments Other treatments for thalassemias have been developed or are being tested, but they're used much less often. Blood and Marrow Stem Cell Transplant A blood and marrow stem cell transplant replaces faulty stem cells with healthy ones from another person (a donor). Stem cells are the cells inside bone marrow that make red blood cells and other types of blood cells. A stem cell transplant is the only treatment that can cure thalassemia. But only a small number of people who have severe thalassemias are able to find a good donor match and have the risky procedure. For more information, go to the Health Topics Blood and Marrow Stem Cell Transplant article. Possible Future Treatments Researchers are working to find new treatments for thalassemias. For example, it might be possible someday to insert a normal hemoglobin gene into stem cells in bone marrow. This will allow people who have thalassemias to make their own healthy red blood cells and hemoglobin. Researchers also are studying ways to trigger a person's ability to make fetal hemoglobin after birth. This type of hemoglobin is found in fetuses and newborns. After birth, the body switches to making adult hemoglobin. Making more fetal hemoglobin might make up for the lack of healthy adult hemoglobin. Treating Complications Better treatments now allow people who have moderate and severe thalassemias to live longer. As a result, these people must cope with complications that occur over time. An important part of managing thalassemias is treating complications. Treatment might be needed for heart or liver diseases, infections, osteoporosis, and other health problems.",31100 Do liver stiffness-spleen size-to-platelet ratio risk score detects esophageal varices in chronic liver disease?,"LSPS represents a useful, noninvasive, accurate method to detect EV and a high EV risk in Japanese patients with CLD.",31101 What are the symptoms of Charcot-Marie-Tooth disease type 2L ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2L. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Decreased amplitude of sensory action potentials - Decreased number of large peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - EMG: chronic denervation signs - Hyporeflexia - Peripheral axonal neuropathy - Pes cavus - Scoliosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31102 Is receptor activator of NF-kappaB ligand ( RANKL ) expressed in chondroblastoma : possible involvement in osteoclastic giant cell recruitment?,These findings suggest that RANKL may be involved in the tumour cell induced recruitment of osteoclast-like cells and consequent osteolytic bone destruction in chondroblastoma.,31103 What is (are) Majeed syndrome ?,"Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern.",31104 How to prevent Parasites - Ascariasis ?,"The best way to prevent ascariasis is to always: - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter (""night soil"") or wastewater is used to fertilize crops. - Wash your hands with soap and warm water before handling food. - Teach children the importance of washing hands to prevent infection. - Wash, peel, or cook all raw vegetables and fruits before eating, particularly those that have been grown in soil that has been fertilized with manure. More on: Handwashing Transmission of infection to others can be prevented by - Not defecating outdoors. - Effective sewage disposal systems. More on: Handwashing",31105 Is emphysematous phenotype an independent predictor for frequent exacerbation of COPD?,"Our data show that the severity of emphysema, severe static hyperinflation and serum lower protein levels are independent predictors of frequent exacerbations in COPD patients.",31106 Do you have information about Cosmetics,"Summary : Cosmetics are products you apply to your body to clean it, make it more attractive, or change the way it looks. They include - Hair dyes - Makeup - Perfumes - Skin-care creams Cosmetics that treat or prevent diseases are also drugs. Products such as dandruff shampoo, fluoride toothpaste, and antiperspirant deodorant are both cosmetics and drugs. A good way to tell if you're buying a cosmetic that is also a drug is to see if the first ingredient listed is an ""active ingredient."" The active ingredient is the chemical that makes the product effective. The manufacturer must have proof that it's safe for its intended use. Cosmetics can cause allergic reactions. The first sign is often red and irritated skin. Fragrances and preservatives are the most common causes of skin problems. To find out all the ingredients in a cosmetic you use, check the container. Manufacturers are required to list them. Labels such as ""natural"" and ""hypoallergenic"" have no official meaning. Companies can use them to mean whatever they want. Food and Drug Administration",31107 Are short mucin 6 alleles associated with H pylori infection?,Short MUC6 alleles are associated with H pylori infection.,31108 Does growth hormone-secreting tumor shrinkage after 3 months of octreotide-long-acting release therapy predict the response at 12 months?,"Tumor shrinkage achieved after 3 months of LAR treatment at 20 mg/28 d predicted tumor shrinkage at 12 months, provided that dosages were changed according to individual patients requirement.",31109 Is dry eye-induced conjunctival epithelial squamous metaplasia modulated by interferon-gamma?,"Conjunctival epithelial response to experimental dryness is related to the degree of CD4+ T-cell infiltration and the level of IFN-gamma production. These findings suggest that IFN-gamma plays a pivotal role in promoting conjunctival squamous metaplasia in dry eye, and they provide insight into the immune pathogenesis of keratoconjunctivitis sicca.",31110 Is inclusion body myopathy with early-onset Paget disease and frontotemporal dementia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",31111 Does aggregated LDL in contact with macrophages induce local increases in free cholesterol levels that regulate local actin polymerization?,"We describe a novel process that occurs during agLDL-macrophage interactions in which local release of free cholesterol causes local actin polymerization, promoting a pathological positive feedback loop for increased catabolism of agLDL and eventual foam cell formation.",31112 Does cellular proliferative fraction measured with topoisomerase IIalpha predict malignancy in endocrine pancreatic tumors?,"Cellular proliferation measured with topoisomerase IIalpha is a simple prognostic marker for malignancy in EPTs, unlike apoptosis, angiogenesis, or the presence of ERbeta, which were not associated with malignant behavior. These findings designate a defined field for future research on endocrine pancreatic carcinogenesis and a possible target for chemotherapeutic agents.",31113 Do attention deficit hyperactivity disorder symptoms predict nicotine dependence and progression to regular smoking from adolescence to young adulthood?,These results have important implications for the development of prevention and treatment modalities.,31114 Is delayed intrinsicoid deflection of the QRS complex associated with sudden cardiac arrest?,"DID was associated with increased SCA risk independent of echocardiographic LVH, ECG LVH, and reduced LV ejection fraction, potentially reflecting unique electrical remodeling that warrants further investigation.",31115 What is (are) Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ?,"Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts in childhood or adolescence, but in some cases not until adulthood. Difficulty speaking develops over time. Other symptoms may include: epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Many affected individuals become wheelchair dependent in their teens or twenties. The earlier the onset the more severe the disease is. The diagnosis is made in persons who had the characteristic abnormalities observed on brain and spinal cord MRI scans and with the genetic test identifiying the DARS2 gene alteration (mutation). There is still no cure and treatment is supportive and includes physical therapy and rehabilitation to improve movement function, and the following as needed: antiepileptic drugs, special education and speech therapy.",31116 Are the anti-inflammatory effects of sympathectomy in murine antigen-induced arthritis associated with a reduction of Th1 and Th17 responses?,"Sympathetic activity mainly increases the severity of acute episodes of immune-mediated arthritis. Therapeutic reduction of sympathetic activity at acute stages attenuates inflammation, hyperalgesia and proinflammatory immune parameters.",31117 Does synthetic Bax-Anti Bcl2 combination module actuated by super artificial hTERT promoter selectively inhibit malignant phenotypes of bladder cancer?,This module offers us a useful synthetic biology platform to inhibit the malignant phenotypes of bladder cancer in a more specific and effective way.,31118 What are the treatments for Stickler syndrome ?,"These resources address the diagnosis or management of Stickler syndrome: - Gene Review: Gene Review: Stickler Syndrome - Genetic Testing Registry: Marshall syndrome - Genetic Testing Registry: Stickler syndrome - MedlinePlus Encyclopedia: Pierre Robin Syndrome - Merck Manual Consumer Version: Detachment of the Retina - Stickler Involved People: Clinical Characteristics & Diagnostic Criteria - Stickler Involved People: Stickler Syndrome Recognition, Diagnosis, Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",31119 What are the genetic changes related to RAPADILINO syndrome ?,"Mutations in the RECQL4 gene cause RAPADILINO syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA. The most common RECQL4 gene mutation involved in RAPADILINO syndrome causes the RECQL4 protein to be pieced together incorrectly. This genetic change results in the production of a protein that is missing a region called exon 7 and is unable to act as a helicase. The loss of helicase function may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. These changes may result in the accumulation of DNA errors and cell death, although it is unclear exactly how RECQL4 gene mutations lead to the specific features of RAPADILINO syndrome.",31120 Is a switch in RND3-RHOA signaling critical for melanoma cell invasion following mutant-BRAF inhibition?,These data reveal a novel switch in the requirement for RND3 and RHOA in coordinating the movement of residual WM793 cells that are initially refractive to BRAF inhibitor therapy. These results have important clinical implications because they suggest that combining BRAF inhibitors with therapies that target the invasion of drug-resistant cells could aid in controlling disease relapse.,31121 What is (are) Gerstmann-Straussler-Scheinker Disease ?,"Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In the early stages, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include dysarthria (slurring of speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), and visual disturbances, sometimes leading to blindness. Deafness also can occur. In some families, parkinsonian features are present. GSS belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs). Other TSEs include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia.",31122 How to diagnose Relapsing polychondritis ?,"There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following features: Inflammation of the cartilage of both ears Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously) Inflammation of the cartilage of the nose Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis) Inflammation of the cartilage of the airway Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus) In some cases, a biopsy of affected tissue may be necessary to support the diagnosis.",31123 What are the symptoms of Transient bullous dermolysis of the newborn ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Transient bullous dermolysis of the newborn. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Cheilitis 50% Hypopigmented skin patches 50% Thin skin 50% Abnormality of metabolism/homeostasis - Atrophic scars - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Fragile skin - Milia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31124 What is (are) Malaria ?,"Malaria is a serious disease caused by a parasite. You get it when an infected mosquito bites you. Malaria is a major cause of death worldwide, but it is almost wiped out in the United States. The disease is mostly a problem in developing countries with warm climates. If you travel to these countries, you are at risk. There are four different types of malaria caused by four related parasites. The most deadly type occurs in Africa south of the Sahara Desert. Malaria symptoms include chills, flu-like symptoms, fever, vomiting, diarrhea, and jaundice. A blood test can diagnose it. It can be life-threatening. However, you can treat malaria with drugs. The type of drug depends on which kind of malaria you have and where you were infected. Malaria can be prevented. When traveling to areas where malaria is found - See your doctor for medicines that protect you - Wear insect repellent with DEET - Cover up - Sleep under mosquito netting Centers for Disease Control and Prevention",31125 Is fibroblast growth factor 23 associated with carotid artery calcification in chronic kidney disease patients not undergoing dialysis : a cross-sectional study?,The prevalence of CAAC is increased with the decline in the kidney function. FGF23 is independently related to CAAC in patients with CKD who are not on dialysis.,31126 Is residual renal function an independent determinant of serum FGF-23 levels in dialysis patients?,"We demonstrate an important association between RRF and FGF-23, independent of classical determinants. This favours the hypothesis that the ailing kidney directly contributes to the raised FGF-23 levels. Whether FGF-23 is associated with poor outcomes independent of RRF, or vice versa, remains to be clarified.",31127 Is the expression pattern of MUC1 ( EMA ) related to tumour characteristics and clinical outcome in 'pure ' ductal carcinoma in situ of the breast?,Four patterns of MUC1 expression are recognized in DCIS that suggest a relationship to functional differentiation and can be simplified into two types that are clinically relevant and could therefore be helpful in the distinction between different subgroups of DCIS.,31128 Are laminin distribution patterns closely related to liver metastasis in gastric cancer?,"The authors propose that laminin-positive basement membrane in the deep periphery in gastric cancer tissue is a significant risk factor for liver metastasis. For such high-risk patients, close follow up and postoperative adjuvant therapy are required.",31129 Does subclinical ( biofilm ) infection cause capsular contracture in a porcine model following augmentation mammaplasty?,"Using this in vivo model, the authors have demonstrated a causal link between subclinical infection, biofilm formation, and capsular contracture.",31130 Do children with obstructive sleep-disordered breathing generate high-frequency inspiratory sounds during sleep?,HFIS may be a marker of disturbed breathing during sleep in children with adenotonsillar hypertrophy.,31131 What are the treatments for Fecal Incontinence ?,"Treatment for fecal incontinence may include one or more of the following: - eating, diet, and nutrition - medications - bowel training - pelvic floor exercises and biofeedback - surgery - electrical stimulation",31132 Do microbial communities in different soil types converge after diesel contamination?,Diesel contamination does not result in the development of similar community profiles in different soil types.,31133 Are genetic variants in the HLA-DRB1 gene associated with Kashin-Beck disease in the Tibetan population?,"These findings, obtained in plasma samples from Tibetan patients with KBD and healthy control subjects from the same regions, confirm the role of selenium and iodine deficiencies in the development of KBD. Moreover, genetic variants in the HLA-DRB1 gene significantly increase the susceptibility to KBD in this population.",31134 What are the symptoms of Pontocerebellar hypoplasia type 3 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Brachycephaly - Cerebellar atrophy - Cerebellar hypoplasia - Cerebral atrophy - Congenital onset - Decreased body weight - Depressed nasal bridge - Downturned corners of mouth - Full cheeks - Hearing impairment - High palate - Hyperreflexia - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the pons - Long palpebral fissure - Long philtrum - Low-set ears - Macrotia - Muscular hypotonia of the trunk - Neonatal hypotonia - Optic atrophy - Poor head control - Progressive - Progressive microcephaly - Proptosis - Seizures - Short stature - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31135 Is sulfasalazine a potent inhibitor of the reduced folate carrier : implications for combination therapies with methotrexate in rheumatoid arthritis?,"At clinically relevant plasma concentrations, interactions of SSZ with RFC provide a biochemical rationale for 2 important clinical observations: 1) the onset of (sub)clinical folate deficiency during SSZ treatment, and 2) the lack of additivity/synergism of the combination of SSZ and MTX when these disease-modifying antirheumatic drugs are administered simultaneously. Thus, when considering use of these drugs in combination therapies, the present results provide a rationale both for the use of folate supplementation and for spacing administration of these drugs over time.",31136 Do selective small molecule inhibitors of glycogen synthase kinase-3 modulate glycogen metabolism and gene transcription?,"SB-216763 and SB-415286 are novel, potent and selective cell permeable inhibitors of GSK-3. Therefore, these compounds represent valuable pharmacological tools with which the role of GSK-3 in cellular signalling can be further elucidated. Furthermore, development of similar compounds may be of use therapeutically in disease states associated with elevated GSK-3 activity such as non-insulin dependent diabetes mellitus and neurodegenerative disease.",31137 Is unilateral hearing loss associated with worse speech-language scores in children?,"School-aged children with UHL demonstrated worse oral language scores than did their siblings with normal hearing. These findings suggest that the common practice of withholding hearing-related accommodations from children with UHL should be reconsidered and studied, and that parents and educators should be informed about the deleterious effects of UHL on oral language skills.",31138 What are the genetic changes related to Klippel-Trenaunay syndrome ?,"The cause of Klippel-Trenaunay syndrome is unknown. Researchers suspect that the condition may result from changes in one or more genes that regulate the growth of blood vessels during embryonic development. However, no associated genes have been identified. It is also unclear how blood vessel malformations are related to the overgrowth of bones and soft tissues.",31139 Is X-linked adrenal hypoplasia congenita inherited ?,"X-linked adrenal hypoplasia congenita is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a NR0B1 mutation may experience adrenal insufficiency or signs of hypogonadotropic hypogonadism such as underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation.",31140 Does mobile extracorporeal membrane oxygenation unit expand cardiac assist surgical programs?,The Mobile Cardiac Assist unit allowed emergency implantation of ECMO support in remote institutions without any logistic or technical problems.,31141 Does synovial inflammation in active rheumatoid arthritis and psoriatic arthritis facilitate trapping of a variety of oral bacterial DNAs?,"Higher variety and concentrations of oral bacterial DNAs were found in SF compared to serum of RA and PsA patients. These findings indicate that synovial inflammation in RA and PsA may favor trapping of oral bacterial DNAs, suggesting a perpetuating effect of oral pathogens in joint disease.",31142 Does cITED2 modulate Breast Cancer Metastatic Ability through Effects on IKKα?,"The current study highlights the role of CITED2 in facilitating breast cancer metastasis, partly via regulation of IKKα. Mol Cancer Res; 14(8); 730-9. ©2016 AACR.",31143 Who is at risk for Gout? ?,"These risk factors are associated with gout. - Genetics. Many people with gout have a family history of the disease. - Gender and age. Gout is more common in men than in women and more common in adults than in children. - Weight. Being overweight increases the risk of developing gout because there is more tissue available for turnover or breakdown, which leads to excess uric acid production. (High levels of uric acid in the blood can lead to gout.) - Alcohol consumption. Drinking too much alcohol can lead to a buildup of uric acid because alcohol interferes with the removal of uric acid from the body. - Diet. Eating too many foods that are rich in purines such as liver, dried beans and peas, anchovies and gravies, can cause or aggravate gout in some people. - Lead exposure. In some cases, exposure to lead in the environment can cause gout. Genetics. Many people with gout have a family history of the disease. Gender and age. Gout is more common in men than in women and more common in adults than in children. Weight. Being overweight increases the risk of developing gout because there is more tissue available for turnover or breakdown, which leads to excess uric acid production. (High levels of uric acid in the blood can lead to gout.) Alcohol consumption. Drinking too much alcohol can lead to a buildup of uric acid because alcohol interferes with the removal of uric acid from the body. Diet. Eating too many foods that are rich in purines such as liver, dried beans and peas, anchovies and gravies, can cause or aggravate gout in some people. Lead exposure. In some cases, exposure to lead in the environment can cause gout.",31144 Does the use of intraoperative nitrous oxide lead to postoperative increases in plasma homocysteine?,Short-term exposure to nitrous oxide led to significant increases in plasma homocysteine. Further investigations are required to determine the clinical significance of this change.,31145 Does leonurine hydrochloride induce apoptosis of H292 lung cancer cell by a mitochondria-dependent pathway?,"LH inhibits the proliferation and induces the apoptosis of H292 cells in a mitochondria-dependent pathway, and the specific mechanism need to be further explored.",31146 Is aTM gene expression associated with differentiation and angiogenesis in infiltrating breast carcinomas?,"Reduced ATM expression in breast carcinomas correlated with tumor differentiation and increased microvascular parameters, supporting its role in neoangiogenesis and tumor progression in breast carcinogenesis.",31147 Does curdione inhibit proliferation of MCF-7 cells by inducing apoptosis?,"Overall, our observations first suggested that curdione inhibited the proliferation of breast cancer cells by inducing apoptosis. These results might provide some molecular basis for the anti-cancer activity of curdione.",31148 How many people are affected by X-linked chondrodysplasia punctata 2 ?,"X-linked chondrodysplasia punctata 2 has been estimated to affect fewer than 1 in 400,000 newborns. However, the disorder may actually be more common than this estimate because it is likely underdiagnosed, particularly in females with mild signs and symptoms. More than 95 percent of cases of X-linked chondrodysplasia punctata 2 occur in females. About a dozen males with the condition have been reported in the scientific literature.",31149 What is (are) Proteinuria ?,"Proteinuriaalso called albuminuria or urine albuminis a condition in which urine contains an abnormal amount of protein. Albumin is the main protein in the blood. Proteins are the building blocks for all body parts, including muscles, bones, hair, and nails. Proteins in the blood also perform a number of important functions. They protect the body from infection, help blood clot, and keep the right amount of fluid circulating throughout the body. As blood passes through healthy kidneys, they filter out the waste products and leave in the things the body needs, like albumin and other proteins. Most proteins are too big to pass through the kidneys' filters into the urine. However, proteins from the blood can leak into the urine when the filters of the kidney, called glomeruli, are damaged. Proteinuria is a sign of chronic kidney disease (CKD), which can result from diabetes, high blood pressure, and diseases that cause inflammation in the kidneys. For this reason, testing for albumin in the urine is part of a routine medical assessment for everyone. Kidney disease is sometimes called renal disease. If CKD progresses, it can lead to end-stage renal disease (ESRD), when the kidneys fail completely. A person with ESRD must receive a kidney transplant or regular blood-cleansing treatments called dialysis.",31150 What are the treatments for Cushing's Syndrome ?,"Treatment of Cushing's syndrome depends on the cause of excess cortisol. If the cause is long-term use of a medication being used to treat another disorder, the physician may reduce the dosage until symptoms are under control. Surgery or radiotherapy may be used to treat pituitary adenomas. Surgery, radiotherapy, chemotherapy, immunotherapy, or a combination of these may be used to treat ectopic ACTH syndrome. The aim of surgical treatment is to cure hypercortisolism by removing the tumor while minimizing the chance of endocrine deficiency or long-term dependence on medications. The U.S. Food and Drug Administration has approved pasireotide diasparate, taken by injection, for individuals who cannot be helped through surgery.",31151 Is partial cholecystectomy a safe and efficient method?,"Where dissection of Calot triangle is changeling, partial cholecystectomy can be safely and efficiently performed.",31152 What are the symptoms of Congenital central hypoventilation syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital central hypoventilation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon 90% Apnea 90% Respiratory insufficiency 90% Short stature 90% Strabismus 90% Cognitive impairment 50% Muscular hypotonia 50% Seizures 50% Neuroblastoma 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Sensorineural hearing impairment 7.5% Abnormality of temperature regulation - Abnormality of the cardiovascular system - Abnormality of the mouth - Autosomal dominant inheritance - Central hypoventilation - Constipation - Feeding difficulties - Ganglioneuroblastoma - Ganglioneuroma - Hyperhidrosis - Low-set ears - Posteriorly rotated ears - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31153 How to prevent Alzheimer's Disease ?,"A number of studies suggest that eating certain foods may help keep the brain healthyand that others can be harmful. Researchers are looking at whether a healthy dietone that includes lots of fruits, vegetables, and whole grains and is low in fat and added sugarcan help prevent Alzheimers. For more information about healthy eating as you age, see Eating Well As You Get Older.",31154 Does a dominant suppressive MHC class II haplotype interacting with autosomal genes control autoantibody production and chronicity of arthritis?,"A dominant negative influence of specific MHC haplotype (H2(d)) on CCIA was identified. Further, loci controlling the autoantibody response to different CII epitopes were also identified, and it has been shown that these are dependent on MHC and non-MHC genes.",31155 Is antioxidant potential correlated to ω6 / ω3 ratio and Brasfield score in cystic fibrosis children?,"The blood antioxidant capability, measured by the KRL test, appears to be an interesting biomarker to evaluate oxidative stress in CF. This study suggests that the ω6/ω3 ratio should be regarded as a nutritional marker in antioxidant management in CF children.",31156 What is (are) Allergy ?,"An allergy is a reaction by your immune system to something that does not bother most other people. People who have allergies often are sensitive to more than one thing. Substances that often cause reactions are - Pollen - Dust mites - Mold spores - Pet dander - Food - Insect stings - Medicines Normally, your immune system fights germs. It is your body's defense system. In most allergic reactions, however, it is responding to a false alarm. Genes and the environment probably both play a role. Allergies can cause a variety of symptoms such as a runny nose, sneezing, itching, rashes, swelling, or asthma. Allergies can range from minor to severe. Anaphylaxis is a severe reaction that can be life-threatening. Doctors use skin and blood tests to diagnose allergies. Treatments include medicines, allergy shots, and avoiding the substances that cause the reactions. NIH: National Institute of Allergy and Infectious Diseases",31157 Does lack of gp130 expression in hepatocytes promote liver injury?,"Our findings demonstrate that gp130 is of minor relevance for embryonal development of hepatocytes. However, the molecule has an essential role in controlling acute phase gene expression and provides hepatocellular protection after LPS challenge.",31158 Are alterations of the pilQ gene in Neisseria gonorrhoeae unlikely contributors to decreased susceptibility to ceftriaxone and cefixime in clinical gonococcal strains?,pilQ polymorphisms are unlikely contributors to decreased susceptibility to ESCs in clinical gonococcal strains.,31159 Is frontometaphyseal dysplasia inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",31160 How many people are affected by benign familial neonatal seizures ?,"Benign familial neonatal seizures occurs in approximately 1 in 100,000 newborns.",31161 "Are high levels of serum C-reactive protein associated with greater risk of all-cause mortality , but not dementia , in the oldest-old : results from The 90+ Study?","High levels of CRP are associated with greater risk of mortality in people aged 90 and older, particularly in APOE4 carriers. There was a trend toward greater risk of dementia in APOE4 carriers with high CRP levels, although this relationship did not reach significance. High levels of CRP in the oldest-old represent a risk factor for negative outcomes.",31162 Does integrin-mediated internalization of Staphylococcus aureus require vinculin?,Our results suggest that vinculin is insignificant for the integrin-mediated uptake of S. aureus despite the critical role of vinculin as a linker between integrins and F-actin.,31163 Is paraoxonase PON1 polymorphism leu-Met54 associated with carotid atherosclerosis : results of the Austrian Stroke Prevention Study?,These data suggest that the paraoxonase LL genotype may represent a genetic risk factor for carotid atherosclerosis.,31164 Is autosomal recessive congenital stationary night blindness inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",31165 Does induction of cellular antioxidant defense by amifostine improve ventilator-induced lung injury?,Amifostine preconditioning activates lung tissue antioxidant cell defense mechanisms and may be a promising strategy for alleviation of ventilator-induced lung injury in critically ill patients subjected to extended mechanical ventilation.,31166 What is (are) Essential Tremor ?,"Tremor is an unintentional, somewhat rhythmic, muscle movement involving to-and-fro movements (oscillations) of one or more parts of the body. Essential tremor (previously called benign essential tremor) is the most common form of abnormal tremor. (In some people, tremor is a symptom of a neurological disorder or appears as a side effect of certain drugs.) Although it may be mild and nonprogressive in some people, in others the tremor is slowly progressive, starting on one side of the body but eventually affecting both sides. Hand tremor is most common but the head, arms, voice, tongue, legs, and trunk may also be involved. Hand tremor may cause problems with purposeful movements such as eating, writing, sewing, or shaving. Head tremor may be seen as a ""yes-yes"" or ""no-no"" motion. Essential tremor may be accompanied by mild gait disturbance. Heightened emotion, stress, fever, physical exhaustion, or low blood sugar may trigger tremors or increase their severity. There may be mild degeneration in the certain parts of the cerebellum in persons with essential tremor. Onset is most common after age 40, although symptoms can appear at any age. Children of a parent who has essential tremor have up to a 50 percent chance of inheriting the condition. Essential tremor is not associated with any known pathology.",31167 Does total body ABCG1 expression protect against early atherosclerotic lesion development in mice?,Total body ABCG1 expression protects against early atherosclerotic lesion development.,31168 Are chimerin 2 genetic polymorphisms associated with non-proliferative diabetic retinopathy in Taiwanese type 2 diabetic patients?,This study showed that the rs1002630 of CHN2 were associated with DR risk and non-proliferative DR risk in Taiwanese individuals with type 2 diabetes. Variations at this locus may contribute to the pathogenesis of DR.,31169 Does downloadable algorithm to reduce inappropriate shocks caused by fractures of implantable cardioverter-defibrillator lead?,A lead-integrity algorithm developed for download into existing implantable cardioverter-defibrillators increases short-term warning of inappropriate shocks in patients with lead fractures and reduces the likelihood of inappropriate shocks. It is the first downloadable RAMware to enhance the performance of nominally functioning implantable cardioverter-defibrillators and the first implantable cardioverter-defibrillator monitoring feature that triggers real-time changes in ventricular fibrillation detection parameters to reduce inappropriate shocks.,31170 Does chronic Aerobic Exercise decrease Lectin-Like Low Density Lipoprotein ( LOX-1 ) Receptor Expression in Heart of Diabetic Rat?,"Swimming exercise reduces heart expression of the LOX-1 receptor in accompany with reduction of free radicals production. Since these parameters are important in generation of diabetic complications, swimming exercise is a good candidate for reducing these complications.",31171 What are the symptoms of Treacher Collins syndrome ?,"The signs and symptoms of Treacher Collins syndrome vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some people have additional eye abnormalities that can lead to vision loss. The condition is also characterized by absent, small, or unusually formed ears. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of affected people. People with Treacher Collins syndrome usually have normal intelligence. You can read additional information about the features of Treacher Collins syndrome through MedlinePlus and GeneReviews. The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Dental malocclusion 90% Hypoplasia of the zygomatic bone 90% Malar flattening 90% Skeletal dysplasia 90% Small face 90% Abnormality of the pinna 77% Lower eyelid coloboma 69% Sparse lower eyelashes 53% Abnormality of the eyelashes 50% Atresia of the external auditory canal 50% Cleft eyelid 50% Conductive hearing impairment 50% Frontal bossing 50% Low anterior hairline 50% Reduced number of teeth 50% Strabismus 50% Visual impairment 50% Wide nasal bridge 50% Visual loss 37% Abnormality of the auditory canal 36% Cleft soft palate 32% Projection of scalp hair onto lateral cheek 26% Abnormality of cardiovascular system morphology 7.5% Abnormality of dental enamel 7.5% Abnormality of dental morphology 7.5% Abnormality of parotid gland 7.5% Abnormality of the adrenal glands 7.5% Abnormality of the thyroid gland 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the thymus 7.5% Bilateral microphthalmos 7.5% Cataract 7.5% Choanal atresia 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Encephalocele 7.5% Facial cleft 7.5% Glossoptosis 7.5% Hypertelorism 7.5% Hypoplasia of penis 7.5% Hypoplasia of the pharynx 7.5% Iris coloboma 7.5% Lacrimal duct stenosis 7.5% Multiple enchondromatosis 7.5% Narrow mouth 7.5% Neurological speech impairment 7.5% Patent ductus arteriosus 7.5% Preauricular skin tag 7.5% Ptosis 7.5% Respiratory insufficiency 7.5% Scrotal hypoplasia 7.5% Tracheoesophageal fistula 7.5% Trismus 7.5% Upper eyelid coloboma 7.5% Urogenital fistula 7.5% Wide mouth 7.5% Intellectual disability 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31172 Is sphincter sparing procedures : it a standard for management of low rectal cancer?,"Sphincter saving procedures can be performed to all patients with rectal carcinoma regardless of the site of the lesion so long the distal and lateral margins are clear. Survival and the risk of local recurrence are similar to that obtained by standard abdomino-perineal resection. Unlike abdomino-perineal resection, sphincter saving procedures preserve the continence and give accepted good quality of life.",31173 What is (are) Chromosome 8q deletion ?,"Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",31174 What are the genetic changes related to X-linked juvenile retinoschisis ?,"Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina. The protein is probably involved in the organization of cells in the retina by attaching cells together (cell adhesion). RS1 gene mutations result in a decrease in or complete loss of functional retinoschisin, which disrupts the maintenance and organization of cells in the retina. As a result, tiny splits (schisis) or tears form in the retina. This damage often forms a ""spoke-wheel"" pattern in the macula, which can be seen during an eye examination. In half of affected individuals, these abnormalities can occur in the area of the macula, affecting visual acuity, in the other half of cases the schisis occurs in the sides of the retina, resulting in impaired peripheral vision. Some individuals with X-linked juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.",31175 Does cholecystokinin octapeptide inhibit the in vitro expression of CD14 in rat pulmonary interstitial macrophages induced by lipopolysaccharide?,CCK-8 negatively modulated several functions of LPS-stimulated PIM through CCK receptors. This may be one of the mechanisms for CCK-8 to alleviate inflammation in lung tissue during endotoxemia.,31176 Are variants in miRNA regulating cardiac growth a common cause of hypertrophic cardiomyopathy?,Sequence variants in miRNAs of patients with HCM are not frequent and the contribution of these variants to the development of this disease was not demonstrated.,31177 Does oestrogen attenuate the increases in blood pressure and platelet aggregation in ovariectomized and salt-loaded Dahl salt-sensitive rats?,Oestrogen replacement suppresses the development of hypertension and attenuates platelet aggregatory function in the salt-loaded ovariectomized Dahl salt-sensitive rats. It has a potential to inhibit the atherosclerotic process in postmenopausal hypertension.,31178 What is (are) Bardet-Biedl syndrome ?,"Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia). Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening. Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.",31179 What are the treatments for Congenital dyserythropoietic anemia type 2 ?,"The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's. If a person with CDA type 2 has mild anemia, but evidence of iron loading, treatment may involve phlebotomy. An alternative treatment is chelation therapy. In particular, chelation therapy is preferred for people with iron (ferritin) levels greater than 1000 mg/L. The Iron Disorders Institute provides information on chelation therapy through their Web site at: http://www.irondisorders.org/chelation-therapy Many people with CDA-2 maintain hemoglobin levels just above the threshold for symptoms. Mild anemia may not need treatment, as long as it doesn't worsen. Less commonly CDA-2 causes severe anemia. Treatment of severe anemia may involve blood transfusions. Blood transfusions can raise iron levels so, careful monitoring and treatment for iron overload is required. The National Heart, Lung, and Blood Institute offers tips for living with hemolytic anemia at the following link: http://www.nhlbi.nih.gov/health/health-topics/topics/ha/livingwith Splenectomy is considered for people with CDA-2 and severe anemia. Splenectomy can cause a consistent rise in hemoglobin values. The spleen, however, is important in fighting infection. People, particularly children, who have had a splenectomy are more likely to contract a serious and possibly life-threatening infection (sepsis). This risk must be carefully weighed. Splenectomy does not affect iron overload. Lastly, people with very severe CDA-2 may be candidates for hematopoietic stem cell transplantation (HSCT). Currently this is the only available curative treatment for CDA-2.",31180 Do excessive trabeculations in noncompaction have the embryonic identity?,The excessive trabeculations in noncompaction do not have the embryonic identity and noncompaction is probably not the result of failed compaction. We propose the lesion results from the compact wall growing into the ventricular lumen in a trabecular fashion.,31181 What is (are) High Blood Pressure ?,"Normal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. However, once the activity stops, your blood pressure returns to your normal baseline range. Blood pressure normally rises with age and body size. Newborn babies often have very low blood pressure numbers that are considered normal for babies, while older teens have numbers similar to adults.",31182 "What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ?","The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Depressed nasal bridge 90% Epicanthus 90% Ptosis 90% Decreased fertility 50% Lacrimation abnormality 50% Myopia 50% Nystagmus 7.5% Strabismus 7.5% Synophrys 7.5% Abnormality of the breast - Abnormality of the hair - Amenorrhea - Autosomal dominant inheritance - Cupped ear - Epicanthus inversus - Female infertility - High palate - Hypermetropia - Increased circulating gonadotropin level - Microcornea - Microphthalmia - Premature ovarian failure - Telecanthus - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31183 Does edaphic adaptation maintain the coexistence of two cryptic species on serpentine soils?,"Demonstrating that continuous habitats can support differently adapted, yet closely related, taxa is important to a broader understanding of how species are generated and maintained in nature.",31184 Does primary care practice organization influence colorectal cancer screening performance?,Deficits in primary care clinical support arrangements and local autonomy over operational management and referral procedures are associated with significantly lower CRC screening performance. Competition with hospital resource demands may impinge on the degree of internal organization of their affiliated primary care practices.,31185 How to prevent Liver (Hepatocellular) Cancer ?,"Key Points - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors may increase the risk of liver cancer: - Hepatitis B and C - Cirrhosis - Aflatoxin - The following protective factor may decrease the risk of liver cancer: - Hepatitis B vaccine - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent liver cancer are being studied in clinical trials. Avoiding risk factors and increasing protective factors may help prevent cancer. Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. The following risk factors may increase the risk of liver cancer: Hepatitis B and C Having chronic hepatitis B or chronic hepatitis C increases the risk of developing liver cancer. The risk is even greater for people with both hepatitis B and C. Also, the longer the hepatitis infection lasts (especially hepatitis C), the greater the risk. In a study of patients with chronic hepatitis C, those who were treated to lower their iron levels by having blood drawn and eating a low-iron diet were less likely to develop liver cancer than those who did not have this treatment. Cirrhosis The risk of developing liver cancer is increased for people who have cirrhosis, a disease in which healthy liver tissue is replaced by scar tissue. The scar tissue blocks the flow of blood through the liver and keeps it from working as it should. Chronic alcoholism and chronic hepatitis C are the most common causes of cirrhosis. Aflatoxin The risk of developing liver cancer may be increased by eating foods that contain aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts, that have not been stored properly). The following protective factor may decrease the risk of liver cancer: Hepatitis B vaccine Preventing hepatitis B infection (by being vaccinated for hepatitis B) has been shown to lower the risk of liver cancer in children. It is not yet known if it lowers the risk in adults. Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. New ways to prevent liver cancer are being studied in clinical trials. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for liver cancer prevention trials that are now accepting patients.",31186 What are the treatments for Chronic progressive external ophthalmoplegia ?,"Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a ptosis crutch to lift the upper eyelids. Strabismus surgery can be helpful in carefully selected patients if diplopia (double vision) occurs. Some individuals with a deficiency of coenzyme Q10 have CPEO as an associated abnormality. Coenzyme Q10 is important for normal mitochondrial function. In individuals with this deficiency, supplemental coenzyme Q10 has been found to improve general neurologic function and exercise tolerance. However, coenzyme Q10 has not been shown to improve the ophthalmoplegia or ptosis in people who have isolated CPEO.",31187 Is Geniospasm inherited ?,"Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene and also be affected. Because there is a 50% chance for each child, it is possible for all of the children of an affected individual to be affected, or likewise, for all of the children to be unaffected.",31188 How many people are affected by SLC4A1-associated distal renal tubular acidosis ?,"The prevalence of SLC4A1-associated distal renal tubular acidosis is unknown. The condition is most common in Southeast Asia, especially Thailand.",31189 "Is 17 alpha-hydroxylase/17,20-lyase deficiency inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",31190 What are the treatments for familial lipoprotein lipase deficiency ?,"These resources address the diagnosis or management of familial lipoprotein lipase deficiency: - Gene Review: Gene Review: Familial Lipoprotein Lipase Deficiency - Genetic Testing Registry: Hyperlipoproteinemia, type I - MedlinePlus Encyclopedia: Chylomicronemia Syndrome - MedlinePlus Encyclopedia: Familial Lipoprotein Lipase Deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",31191 Is preoperative positron emission tomography with fluorine-18-fluorodeoxyglucose predictive of prognosis in patients with hepatocellular carcinoma after resection?,"The SUV ratio was related significantly to disease-related death as well as other predictive factors, including the number of tumors, the size, stage, and involvement of vessels, and the involvement of the capsule. Consequently, we conclude that the SUV ratio provides information of prognostic relevance in patients with HCC before surgery.",31192 "Are serum HIV-1 p24 antibody , HIV-1 RNA copy number and CD4 lymphocyte percentage independently associated with risk of mortality in HIV-1-infected children . National Institute of Child Health and Human Development Intravenous Immunoglobulin Clinical Trial Study Group?","HIV-1 p24 antibody, HIV-1 RNA and CD4 cell percentage independently predict mortality amongst infected children. Whereas CD4 cell percentage provides an estimate of the general degree of immune suppression, HIV-1 p24 antibody could provide an easily obtained, inexpensive assessment of CD4 cell function and could augment prognostic information provided by CD4 cell count and viral load for clinical management of infected children.",31193 Are escherichia coli bacteremia in children : age and portal of entry the main predictors of severity?,"E. coli strains responsible for bacteremia exhibit specific characteristics according to age of children. However, host characteristics and portal of entry are the main determinants of severity of E. coli bacteremia in children, as observed in adults.",31194 How many people are affected by Bietti crystalline dystrophy ?,"Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 people. It is more common in people of East Asian descent, especially those of Chinese and Japanese background. Researchers suggest that Bietti crystalline dystrophy may be underdiagnosed because its symptoms are similar to those of other eye disorders that progressively damage the retina.",31195 What is (are) Chromosome 2q deletion ?,"Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",31196 Does perioperative ketorolac increase post-tonsillectomy hemorrhage in adults but not children?,"Ketorolac can be used safely in children, but is associated with a five-fold increased bleeding risk in adults.",31197 "Is l-Ephedrine a major constituent of Mao-Bushi-Saishin-To , one of the formulas of Chinese medicine , which shows immediate inhibition after oral administration of passive cutaneous anaphylaxis in rats?","It is strongly emphasised that the rapid suppression of PCA by orally administered l-ephedrine must be exerted by a mechanism distinct from that of suppression produced following gastrointestinal absorption of the drug, because the time required for the inhibition was extraordinarily short. However, direct inhibition of anaphylactic histamine release from isolated mast cells was excluded in this inhibition of PCA.",31198 What are the treatments for Paraneoplastic Syndromes ?,"When present, the tumor and cancer are treated first, followed by efforts to decrease the autoimmune response -- either through steroids such as cortisone or prednisone, high-dose intravenous immunoglobulin, or irradiation. Plasmapheresis, a process that cleanses antibodies from the blood, may ease symptoms in people with paraneoplastic disorders that affect the peripheral nervous system. Speech and physical therapy may help individuals regain some functions.",31199 "Is bcMF9 , a novel polygalacturonase gene , required for both Brassica campestris intine and exine formation?","Several lines of evidence, including patterns of BcMF9 expression and phenotypic defects, suggest a sporophytic role in exine patterning, and a gametophytic mode of action of BcMF9 in intine formation. BcMF9 might act as a co-ordinator in the late stages of tapetum degeneration, and subsequently in the regulation of wall material secretion and, in turn, exine formation. BcMF9 might also play a role in intine formation, possibly via regulation of the dynamic metabolism of pectin.",31200 Is sexual functioning impaired in adults with congenital heart disease?,"This study shows that sexual functioning is impaired in adults with ConHD. Providing information to patients about sexuality, pregnancy, delivery and heredity should be improved, and given at young age.",31201 How many people are affected by Polycystic Kidney Disease ?,"Estimates of PKDs prevalence range from one in 400 to one in 1,000 people.1 According to the United States Renal Data System, PKD accounts for 2.2 percent of new cases of kidney failure each year in the United States. Annually, eight people per 1 million have kidney failure as a result of PKD.2 Polycystic kidney disease exists around the world and in all races. The disorder occurs equally in women and men, although men are more likely to develop kidney failure from PKD. Women with PKD and high blood pressure who have had more than three pregnancies also have an increased chance of developing kidney failure.",31202 Is increased serum YKL-40 level associated with the presence and severity of metabolic syndrome?,"In this study, we demonstrated that serum YKL-40 level was significantly associated with the presence of MS. According to these findings, we concluded that serum YKL-40 may be a novel and useful indicator for MS.",31203 How many people are affected by alpha-methylacyl-CoA racemase deficiency ?,AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 cases have been described in the medical literature.,31204 How many people are affected by spinal muscular atrophy with respiratory distress type 1 ?,"SMARD1 appears to be a rare condition, but its prevalence is unknown. More than 60 cases have been reported in the scientific literature.",31205 What are the treatments for Bethlem myopathy ?,"The treatment for Behtlem myopathy is symptomatic and supportive. This means that treatment is directed at the individual symptoms that are present in each case. There is no cure. In most cases, physical therapy, stretching exercises, splinting, and/or mobility aids are employed. In rare cases, surgery may be needed (i.e. for Achilles tendon contractures or scoliosis).",31206 Is pretreatment T3-4 stage an adverse prognostic factor in patients with esophageal squamous cell carcinoma who achieve pathological complete response following preoperative chemoradiotherapy?,"We have shown that up to 31.4% of patients with esophageal SCC who achieve pCR develop tumor recurrence thereafter. Pretherapy T3-4 disease was a strong and independent adverse risk factor for 5-year tumor recurrence, DSS and DFS. High-risk patients with T3-4 disease should be followed with a strict surveillance protocol.",31207 Is obesity in diabetic patients undergoing coronary artery bypass graft surgery associated with increased postoperative morbidity?,Obesity in diabetic patients is an independent predictor of worsened postoperative outcomes after primary coronary artery bypass graft surgery.,31208 What are the symptoms of Paget disease of bone ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bilateral conductive hearing impairment 40% Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Bone pain - Brain stem compression - Cranial nerve paralysis - Elevated alkaline phosphatase - Fractures of the long bones - Heterogeneous - Hydroxyprolinuria - Increased susceptibility to fractures - Long-tract signs - Osteolysis - Paraparesis - Tetraparesis - Vertebral compression fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31209 Does detection of gender differences in incomplete revascularization after coronary artery bypass surgery vary with classification technique?,"Given the differences in identification patterns, we advise that the mathematical calculation be performed after-procedure in all patients regardless of the surgeons' rating to uncover additional subjects at increased risk.",31210 What are the genetic changes related to craniofacial microsomia ?,"It is unclear what genes are involved in craniofacial microsomia. This condition results from problems in the development of structures in the embryo called the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six pairs of pharyngeal arches give rise to the muscles, arteries, nerves, and cartilage of the face and neck. Specifically, the first and second pharyngeal arches develop into the lower jaw, the nerves and muscles used for chewing and facial expression, the external ear, and the bones of the middle ear. Interference with the normal development of these structures can result in the abnormalities characteristic of craniofacial microsomia. There are several factors that can disrupt the normal development of the first and second pharyngeal arches and lead to craniofacial microsomia. Some individuals with this condition have chromosomal abnormalities such as deletions or duplications of genetic material; these individuals often have additional developmental problems or malformations. Occasionally, craniofacial microsomia occurs in multiple members of a family in a pattern that suggests inheritance of a causative gene mutation, but the gene or genes involved are unknown. In other families, individuals seem to inherit a predisposition to the disorder. The risk of craniofacial microsomia can also be increased by environmental factors, such as certain drugs taken by the mother during pregnancy. In most affected individuals, the cause of the disorder is unknown. It is not well understood why certain disruptions to development affect the first and second pharyngeal arches in particular. Researchers suggest that these structures may develop together in such a way that they respond as a unit to these disruptions.",31211 Does hepatitis C virus-induced reduction in miR-181a impair CD4 ( + ) T-cell responses through overexpression of DUSP6?,"Since a decline of miR-181a concomitant with DUSP6 overexpression is the signature marker for age-associated T-cell senescence, these findings provide novel mechanistic insights into HCV-mediated premature T-cell aging through miR-181a-regulated DUSP6 signaling and reveal new targets for therapeutic rejuvenation of impaired T-cell responses during chronic viral infection.",31212 Does postictal nosewiping lateralizes and localize to the ipsilateral temporal lobe?,"PINW is more common in unilateral TLE, particularly MTLE, than in ExTLE. PINW performed exclusively with one hand occurs in approximately 50% of patients with TLE and is highly predictive (92%) of seizure onset ipsilateral to the hand used, especially when it occurs repetitively. We hypothesize that ictal activation of the central autonomic nervous system, particularly the amygdala, results in ictal nasal secretions and causes nosewiping as the patient regains awareness postictally. The ipsilateral hand is used due to contralateral neglect or weakness.",31213 Is kRAS mutation present in a small subset of primary urinary bladder adenocarcinomas?,"KRAS mutations are present in a small subset of primary urinary bladder adenocarcinomas. Future clinical trials for treatment of bladder adenocarcinoma, employing targeted therapies similar to those used for treatment of colon cancer, may also benefit from the predictive implications of KRAS mutational testing.",31214 What are the symptoms of Ankylosing spondylitis ?,"Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. Back movement gradually becomes more limited over time as the vertebrae fuse together. Many affected people have mild back pain that comes and goes; others have severe, chronic pain. In very severe cases, the rib cage may become stiffened, making it difficult to breathe deeply. In some people, the condition involves other areas of the body, such as the shoulders, hips, knees, and/or the small joints of the hands and feet. It may affect various places where tendons and ligaments attach to the bones. Sometimes it can affect other organs including the eyes, and very rarely, the heart and lungs. Episodes of eye inflammation may cause eye pain and increased sensitivity to light (photophobia). Neurological complications of AS may include an inability to control urination and bowel movements (incontinence), and the absence of normal reflexes in the ankles due to pressure on the lower portion of the spinal cord (cauda equina). The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosing spondylitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the oral cavity 90% Abnormality of the sacroiliac joint 90% Arthralgia 90% Arthritis 90% Diarrhea 90% Enthesitis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Spinal rigidity 90% Abnormality of the thorax 50% Myalgia 50% Respiratory insufficiency 50% Abdominal pain 7.5% Abnormal tendon morphology 7.5% Abnormality of temperature regulation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anorexia 7.5% Arrhythmia 7.5% Autoimmunity 7.5% Cartilage destruction 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hyperkeratosis 7.5% Nephrolithiasis 7.5% Nephropathy 7.5% Nephrotic syndrome 7.5% Osteomyelitis 7.5% Proteinuria 7.5% Pulmonary fibrosis 7.5% Pustule 7.5% Recurrent fractures 7.5% Recurrent urinary tract infections 7.5% Renal insufficiency 7.5% Skin rash 7.5% Skin ulcer 7.5% Anterior uveitis - Aortic regurgitation - Back pain - Hip osteoarthritis - Inflammation of the large intestine - Kyphosis - Multifactorial inheritance - Psoriasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31215 Do tiopronin monolayer-protected silver nanoparticles modulate IL-6 secretion mediated by Toll-like receptor ligands?,"Ag@tiopronin nanoparticles have a narrow size distribution ( approximately 5 nm), high solubility and stability in aqueous environment with no cytotoxicity in terms of mitochondrial function or plasma-membrane integrity at concentrations as high as 200 microg/10(6) cells. Ag@tiopronin nanoparticles were not proinflammatory agents, but remarkably they specifically impaired the IL-6 secretion mediated by TLR2, TLR2/6, TLR3 or TLR9 stimulation in co-treatment experiments. However, in pretreatment experiments, nanoparticles enhanced the susceptibility of macrophages to inflammatory stimulation mediated by TLR2/1 and TLR2/6 specific ligands while severely impairing the IL-6 secretion activated by the TLR3 or TLR9 ligands.",31216 Is magnesium loss in cyclosporine-treated patients related to renal epidermal growth factor downregulation?,"In CsA-treated patients, the association of a low urinary EGF excretion and a decreased renal Mg(2+) reabsorption is in accordance with in vitro and animal studies. In the whole study population, log urinary EGF excretion is an independent predictor of the FE Mg(2+), supporting the role of EGF in magnesium reabsorption.",31217 Does computer navigation experience in hip resurfacing improve femoral component alignment using a conventional jig?,Femoral component placement utilizing conventional instrumentation may be more accurate following experience using imageless computer navigation.,31218 Does the perivascular pool of aquaporin-4 mediate the effect of osmotherapy in postischemic cerebral edema?,"These data demonstrate that 1) osmotherapy with hypertonic saline exerts antiedema effects via the perivascular pool of aquaporin-4, 2) hypertonic saline attenuates blood-brain barrier disruption depending on the presence of perivascular aquaporin-4, and 3) deletion of the perivascular pool of aquaporin-4 alleviates tissue damage after stroke, in mice subjected to osmotherapy and in nontreated mice.",31219 Does hydrogen peroxide whiten teeth by oxidizing the organic structure?,"Hydrogen peroxide does not induce significant changes in tooth enamel organic and inorganic relative contents, and it whitens teeth just by oxidizing their organic matrix. These findings are of great clinical significance since they explain the mechanism of tooth bleaching, and help understanding its limitations and disadvantages.",31220 Are genetic polymorphisms in CYP3A4 associated with withdrawal symptoms and adverse reactions in methadone maintenance patients?,These results suggested that genetic variants in the CYP3A4 gene may be useful indicators for the severity of side effects and withdrawal symptoms for methadone treatment.,31221 what is staphylococcus aureus?,"How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page",31222 Is obstructive sleep apnea common and independently associated with atrial fibrillation in patients with hypertrophic cardiomyopathy?,"OSA is highly prevalent in patients with HCM and it is associated with left atrial and aortic enlargement. OSA is independently associated with AF, a risk factor for cardiovascular death in this population.",31223 Does cardiac sympathetic denervation modulate the sympathoexcitatory response to acute myocardial ischemia?,"These findings suggest that if the provoked ischemia is not severe, cardiac sympathetic denervation could prevent ischemia-induced sympathoexcitation.",31224 Does helicobacter pylori stimulate DNA synthesis in a small intestinal cell line in vitro?,"H. pylori stimulates DNA synthesis in epithelial cells in vitro, but no association was found with the presence of cytotoxin production. Our results suggest that hitherto unknown components of H. pylori may contribute to the increase in cell proliferation observed in gastritis and to the development of MALT lymphoma and gastric cancer.",31225 What causes Gardner-Diamond syndrome ?,"The underlying cause of Gardner-Diamond syndrome (GDS) is poorly understood and has not been identified. Experts have proposed several possible explanations including: response to stress - stress, or distress, is associated with increased levels of glucocorticoids and catecholamines in the body, which may alter processes such as fibrinolysis (the breakdown of blood clots) increased fibrinolysis - an increase in the activity of tissue plasminogen activator (tPA), which can cause a cascade of events that may lead to bleeding autoerythrocyte sensitization - an autoimmune reaction to the affected person's own red blood cells (erythrocytes)",31226 What are the genetic changes related to Erdheim-Chester disease ?,"More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder. The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions. Specifically, the RAS/MAPK pathway regulates the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). The BRAF gene mutation that causes Erdheim-Chester disease is somatic, which means that it occurs during a person's lifetime and is present only in certain cells. The mutation occurs in histiocytes or in immature precursor cells that will develop into histiocytes. This mutation leads to production of a BRAF protein that is abnormally active, which disrupts regulation of cell growth and division. The unregulated overproduction of histiocytes results in their accumulation in the body's tissues and organs, leading to the signs and symptoms of Erdheim-Chester disease. The BRAF gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. Researchers disagree on whether Erdheim-Chester disease should be considered a form of cancer because of the unregulated accumulation of histiocytes.",31227 What is (are) Microcephaly ?,"Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol; became infected with a cytomegalovirus, rubella (German measles), varicella (chicken pox) virus, or possibly Zika virus; was exposed to certain toxic chemicals; or had untreated phenylketonuria (PKU, a harmful buildup of the amino acid phenylalanine in the blood). Microcephaly is associated with Downs syndrome, chromosomal syndromes, and neurometabolic syndromes. With viral-induced brain injury, such as with the Zika virus, there is often widespread tissue and cell death leading to brain shrinkage rather than simply impaired growth. The Zika virus is also associated with retinal lesions in about a third of cases, often leading to blindness. Depending on the severity of the accompanying syndrome, children with microcephaly may have impaired cognitive development, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities.",31228 Does hyperbaric oxygen therapy provide neuroprotection following spinal cord injury in a rat model?,"HBO therapy can promote the neuroprotection following SCI, which may be related to the effect of HBO on the iNOS mRNA-iNOS-NO signaling pathway.",31229 Does periostin of human periodontal ligament fibroblasts promote migration of human mesenchymal stem cell through the αvβ3 integrin/FAK/PI3K/Akt pathway?,Periostin expression in hPDLFs promotes the migration of hMSCs through the αvβ3 integrin/FAK/PI3K/Akt pathway in vitro.,31230 Does cerebral oxygen saturation normalize until after stage 2 single ventricle palliation?,"In children with single ventricle physiology, SCO2 decreases after initial palliation, remains low before second-stage palliation, but is normal before and after the Fontan. This has implications for perioperative mortality, neurologic injury, and potentially for interim mortality. Low postoperative SCO2 predicts perioperative mortality.",31231 Does ecklonia cava polyphenol protect the liver against ethanol-induced injury in rats?,ECP may be a candidate for preventing ethanol-induced liver injury.,31232 What are the symptoms of Idiopathic juxtafoveal retinal telangiectasia ?,"Signs and symptoms of idiopathic juxtafoveal retinal telangiectasia may include slow loss of vision, distorted vision, trouble reading, and scotomata (a spot in the visual field in which vision is absent or deficient).",31233 What are the genetic changes related to Hermansky-Pudlak syndrome ?,"At least nine genes are associated with Hermansky-Pudlak syndrome. These genes provide instructions for making proteins that are used to make four distinct protein complexes. These protein complexes play a role in the formation and movement (trafficking) of a group of cell structures called lysosome-related organelles (LROs). LROs are very similar to compartments within the cell called lysosomes, which digest and recycle materials. However, LROs perform specialized functions and are found only in certain cell types. LROs have been identified in pigment-producing cells (melanocytes), blood-clotting cells (platelets), and lung cells. Mutations in the genes associated with Hermansky-Pudlak syndrome prevent the formation of LROs or impair the functioning of these cell structures. In general, mutations in genes that involve the same protein complex cause similar signs and symptoms. People with this syndrome have oculocutaneous albinism because the LROs within melanocytes cannot produce and distribute the substance that gives skin, hair, and eyes their color (melanin). Bleeding problems are caused by the absence of LROs within platelets, which affects the ability of platelets to stick together and form a blood clot. Mutations in some of the genes that cause Hermansky-Pudlak syndrome affect the normal functioning of LROs in lung cells, leading to pulmonary fibrosis. Mutations in the HPS1 gene cause approximately 75 percent of the Hermansky-Pudlak syndrome cases from Puerto Rico. About 45 percent of affected individuals from other populations have mutations in the HPS1 gene. Mutations in the HPS3 gene are found in about 25 percent of affected people from Puerto Rico and in approximately 20 percent of affected individuals from other areas. The other genes associated with Hermansky-Pudlak syndrome each account for a small percentage of cases of this condition. In some people with Hermansky-Pudlak syndrome, the genetic cause of the disorder is unknown.",31234 What are the symptoms of Mnire's disease ?,"The symptoms of Mnire's disease typically occur suddenly and can arise daily, or as infrequently as once a year. Vertigo, often the most debilitating symptom of Mnire's disease, typically involves a whirling dizziness that forces the affected person to lie down. Vertigo attacks can lead to severe nausea, vomiting, and sweating, and often come with little or no warning. Some people with Mnire's disease have attacks that start with tinnitus (ear noises), a loss of hearing, or a full feeling or pressure in the affected ear. It is important to remember that all of these symptoms are unpredictable. Typically, the attack is characterized by a combination of vertigo, tinnitus, and hearing loss lasting several hours. People experience these discomforts at varying frequencies, durations, and intensities. Some may feel slight vertigo a few times a year. Others may be occasionally disturbed by intense, uncontrollable tinnitus while sleeping. Affected people may also notice hearing loss or feel unsteady for prolonged periods. Other occasional symptoms of Mnire's disease may include headaches, abdominal discomfort, and diarrhea. A person's hearing tends to recover between attacks but over time may become worse. Meniere's disease usually starts in one ear but it may extend to involve both ears over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Mnire's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hearing impairment - Tinnitus - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31235 What is (are) Knee Injuries and Disorders ?,"Your knee joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the knee joint move. When any of these structures is hurt or diseased, you have knee problems. Knee problems can cause pain and difficulty walking. Knee problems are very common, and they occur in people of all ages. Knee problems can interfere with many things, from participation in sports to simply getting up from a chair and walking. This can have a big impact on your life. The most common disease affecting the knee is osteoarthritis. The cartilage in the knee gradually wears away, causing pain and swelling. Injuries to ligaments and tendons also cause knee problems. A common injury is to the anterior cruciate ligament (ACL). You usually injure your ACL by a sudden twisting motion. ACL and other knee injuries are common sports injuries. Treatment of knee problems depends on the cause. In some cases your doctor may recommend knee replacement. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",31236 What are the treatments for genitopatellar syndrome ?,These resources address the diagnosis or management of genitopatellar syndrome: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Genitopatellar syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,31237 Does presenilin control CBP levels in the adult Drosophila central nervous system?,"Our data support a model in which Psn regulates CBP levels in the adult fly brain in a manner that is independent of Notch signaling. Although we do not understand the molecular mechanism underlying the association between Psn and CBP, our results underscore the need to learn more about the basic relationship between Psn-regulated substrates and essential functions of the nervous system.",31238 What are the genetic changes related to Beckwith-Wiedemann syndrome ?,"The genetic causes of Beckwith-Wiedemann syndrome are complex. The condition usually results from the abnormal regulation of genes in a particular region of chromosome 11. People normally inherit one copy of this chromosome from each parent. For most genes on chromosome 11, both copies of the gene are expressed, or ""turned on,"" in cells. For some genes, however, only the copy inherited from a person's father (the paternally inherited copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternally inherited copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes on chromosome 11 that undergo genomic imprinting are responsible for most cases of Beckwith-Wiedemann syndrome. At least half of all cases result from changes in a process called methylation. Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. In genes that undergo genomic imprinting, methylation is one way that a gene's parent of origin is marked during the formation of egg and sperm cells. Beckwith-Wiedemann syndrome is often associated with changes in regions of DNA on chromosome 11 called imprinting centers (ICs). ICs control the methylation of several genes that are involved in normal growth, including the CDKN1C, H19, IGF2, and KCNQ1OT1 genes. Abnormal methylation disrupts the regulation of these genes, which leads to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome. About twenty percent of cases of Beckwith-Wiedemann syndrome are caused by a genetic change known as paternal uniparental disomy (UPD). Paternal UPD causes people to have two active copies of paternally inherited genes rather than one active copy from the father and one inactive copy from the mother. People with paternal UPD are also missing genes that are active only on the maternally inherited copy of the chromosome. In Beckwith-Wiedemann syndrome, paternal UPD usually occurs early in embryonic development and affects only some of the body's cells. This phenomenon is called mosaicism. Mosaic paternal UPD leads to an imbalance in active paternal and maternal genes on chromosome 11, which underlies the signs and symptoms of the disorder. Less commonly, mutations in the CDKN1C gene cause Beckwith-Wiedemann syndrome. This gene provides instructions for making a protein that helps control growth before birth. Mutations in the CDKN1C gene prevent this protein from restraining growth, which leads to the abnormalities characteristic of Beckwith-Wiedemann syndrome. About 1 percent of all people with Beckwith-Wiedemann syndrome have a chromosomal abnormality such as a rearrangement (translocation), abnormal copying (duplication), or loss (deletion) of genetic material from chromosome 11. Like the other genetic changes responsible for Beckwith-Wiedemann syndrome, these abnormalities disrupt the normal regulation of certain genes on this chromosome.",31239 Is common variation in the SERPING1 gene associated with age-related macular degeneration in two independent groups of subjects?,We were unable to replicate the reported association between SERPING1 and AMD in two independent groups of subjects.,31240 Do human eosinophils constitutively express nuclear factor of activated T cells p and c?,NFATp and NFATc can regulate the expression of cytokines and other genes in eosinophils but appear to be regulated by a novel signal transduction mechanism in these cells.,31241 Does medicare claim versus beneficiary self-report for influenza vaccination surveillance?,"The classification of influenza vaccination status for Medicare beneficiaries can differ based upon survey and claims. To improve Medicare claims-based surveillance studies, further research is needed to determine the sources of discordance in self-reported and Medicare claims data, specifically for sensitivity and negative predictive value.",31242 Do functional capacity and actual daily activity contribute to patient satisfaction after total knee arthroplasty?,"Functional capacity and actual daily activity do not contribute to patient satisfaction after TKA. Patients with a better preoperative self-reported mental functioning, and patients who experienced less pain and had fulfilled expectations regarding pain postoperatively, were more often satisfied.",31243 What are the symptoms of Insulinoma ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Insulinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Insulinoma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31244 What are the symptoms of La Crosse encephalitis ?,"Most people infected with LAC encephalitis do not have symptoms. Those that do become ill may initially have fever, headache, vomiting and lethargy (tiredness). Severe cases may develop encephalitis, an inflammation of the brain, which is often accompanied by seizures. Coma and paralysis may also occur. Most cases that develop symptoms occur in children under the age of 16 Symptoms, if present, typically develop 5 to 15 days after the bite of an infected mosquito. Most cases occur during the summer months.",31245 What is (are) Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?,"In addition to type 2, the other main types of diabetes are type 1 diabetes and gestational diabetes. Type 1 Diabetes Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, your pancreas can no longer make insulin because your bodys immune system has attacked and destroyed the cells that make it. Treatment for type 1 diabetes includes taking insulin shots or using an insulin pump, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and, for some, taking aspirin daily. Gestational Diabetes Gestational diabetes is a type of diabetes that develops only during pregnancy. Hormones produced by your placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If your pancreas cant produce enough insulin, gestational diabetes occurs. As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. Gestational diabetes occurs more often in some ethnic groups and among women with a family history of diabetes. Although gestational diabetes usually goes away after the baby is born, a woman who has had gestational diabetes is more likely to develop type 2 diabetes later in life. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up.",31246 Do antioxidants modulate induction of programmed endothelial cell death ( apoptosis ) by endotoxin?,"These findings suggest a novel role for the hydroxyl radical as a nonlethal intracellular signal in endothelial cell apoptosis. Moreover, the results support a role for programmed cell death in the pathogenesis of multiple organ dysfunction syndrome and suggest novel strategies for prophylaxis and therapy of the most common cause of death in surgical intensive care units.",31247 Do histopathologic response criteria predict survival of patients with resected lung cancer after neoadjuvant chemotherapy?,"The percentages of residual viable tumor cells predict OS and DFS in patients with resected NSCLC after neoadjuvant chemotherapy even when controlled for pathologic stage. Histopathologic assessment of resected specimens after neoadjuvant chemotherapy could potentially have a role in addition to pathologic stage in assessing prognosis, chemotherapy response, and the need for additional adjuvant therapies.",31248 Is hepatic hepatocyte nuclear factor 4α essential for maintaining triglyceride and cholesterol homeostasis?,"Loss of hepatic HNF4α results in severe lipid disorder as a result of dysregulation of multiple genes involved in lipid metabolism. In contrast, augmentation of hepatic HNF4α activity lowers plasma cholesterol levels but has no effect on plasma triglyceride levels because of selective gene regulation. Our data indicate that hepatic HNF4α is essential for controlling the basal expression of numerous genes involved in lipid metabolism and is indispensable for maintaining normal lipid homeostasis.",31249 What are the symptoms of Fitzsimmons-Guilbert syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Pectus carinatum 90% Short stature 90% Abnormality of the palate 50% Abnormality of thumb phalanx 50% Finger syndactyly 50% Autosomal recessive inheritance - Babinski sign - Broad hallux - Broad thumb - Cone-shaped epiphyses of the phalanges of the hand - Decreased body weight - Dysarthria - Enuresis nocturna - Feeding difficulties in infancy - High palate - Malar flattening - Narrow face - Nasal speech - Pectus excavatum - Pes planus - Progressive spastic paraplegia - Scissor gait - Short finger - Short metacarpal - Short metatarsal - Short phalanx of finger - Short toe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31250 What is (are) Mondor disease ?,"Mondor disease is a rare condition that is characterized by scarring and inflammation of the veins located just beneath the skin of the chest. The affected veins are initially red and tender and subsequently become a painless, tough, fibrous band that is accompanied by tension and retraction of the nearby skin. In most cases, the condition is benign and resolves on its own; however, Mondor disease can rarely be associated with breast cancer. Although the condition most commonly affects the chest, Mondor disease of other body parts (including the penis, groin, and abdomen) has been described, as well. Mondor disease is thought to occur when pressure or trauma on the veins causes blood to stagnate. In most cases, the condition arises after recent breast surgery, but it can also be associated with physical strain and/or tight-fitting clothing (i.e. bras). Treatments are available to help relieve symptoms until the condition resolves.",31251 Do upregulation of interleukin-1β/transforming growth factor-β1 and hypoxia relate to molecular mechanisms underlying immobilization-induced muscle contracture?,"In the early stages of immobilization, upregulation of IL-1β/TGF-β1 via macrophages may promote fibroblast differentiation that could affect muscle contracture. The soleus muscle became hypoxic in the later stages of immobilization, suggesting that hypoxia influences the progression of muscle contracture.",31252 What are the treatments for Allan-Herndon-Dudley syndrome ?,These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedia: T3 Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,31253 Does lifelong physical training prevent the age-related impairment of heart rate variability and exercise capacity in elderly people?,"Long-term endurance training induces in elderly subjects an increased HRV and a higher exercise working capacity, which are well-established predictors of cardiovascular and overall mortality.",31254 Does cyclic AMP activate B-Raf and ERK in cyst epithelial cells from autosomal-dominant polycystic kidneys?,"cAMP activates ERK and increases proliferation of ADPKD epithelial cells, but not cells from normal human kidney cortex, through the sequential phosphorylation of PKA, B-Raf and MAPK in a pathway separate from, but complementary to, the classical receptor tyrosine kinase cascade. Consequently, cAMP and EGF have great potential to accelerate the progressive enlargement of renal cysts.",31255 How many people are affected by rippling muscle disease ?,The prevalence of rippling muscle disease is unknown.,31256 Are genetic polymorphisms of cyclooxygenase-1 ( COX-1 ) associated with functional dyspepsia in Japanese women?,Our results provide the first evidence that the COX-1 gene polymorphism is significantly associated with the development of the EPS subgroup of FD in female subjects.,31257 What is (are) Medicare and Continuing Care ?,"People who choose Original Medicare may wish to consider Medigap, a type of Medicare supplement insurance. Medigap policies are sold by private insurance companies to fill gaps in Original Medicare Plan coverage, such as out-of-pocket costs for Medicare co-insurance and deductibles, or for services not covered by Medicare. A Medigap policy only works with Original Medicare. A person who joins a Medicare Advantage Plan generally doesn't need (and can't use) a Medigap policy. For more information about Medigap policies, visit http://www.medicare.gov to view a copy of ""Choosing a Medigap Policy: A Guide to Health Insurance for People with Medicare."" (Under ""Search Tools,"" select ""Find a Medicare Publication."") You can also call 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048.",31258 What are the treatments for GRACILE syndrome ?,These resources address the diagnosis or management of GRACILE syndrome: - Genetic Testing Registry: GRACILE syndrome - MedlinePlus Encyclopedia: Aminoaciduria - MedlinePlus Encyclopedia: Cholestasis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,31259 "What are the symptoms of Gonadal dysgenesis, XX type ?","The Human Phenotype Ontology provides the following list of signs and symptoms for Gonadal dysgenesis, XX type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Polycystic ovaries 90% Primary amenorrhea 90% Sensorineural hearing impairment 90% Cerebral cortical atrophy 50% Short stature 50% Aplasia/Hypoplasia of the cerebellum 7.5% Cognitive impairment 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Nystagmus 7.5% Oculomotor apraxia 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Ptosis 7.5% Scoliosis 7.5% Secondary amenorrhea 7.5% Areflexia 5% Cerebellar atrophy 5% Dysarthria 5% Hyporeflexia 5% Motor delay 5% Sensorimotor neuropathy 5% Spastic diplegia 5% Autosomal recessive inheritance - Gait ataxia - Gonadal dysgenesis - High palate - Increased circulating gonadotropin level - Limited extraocular movements - Osteoporosis - Pes cavus - Phenotypic variability - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31260 Is the Holliday junction resolvase RecU required for chromosome segregation and DNA damage repair in Staphylococcus aureus?,RecU is required for correct chromosome segregation and DNA damage repair in S. aureus. Co-expression of recU and pbp2 from the same operon is not required for normal cell division.,31261 Is high adiposity associated cross-sectionally with low self-concept and body size dissatisfaction among indigenous Cree schoolchildren in Canada?,"The psychosocial correlates of obesity are important considerations for indigenous children, particularly girls, given that poor self-concept and body size dissatisfaction negatively impact mental and emotional qualities of life.",31262 What are the treatments for Kyrle disease ?,"Kyrle disease is most often associated with a systemic disorder, although idiopathic cases without any associated disease have occurred. Therefore, treatment is typically directed toward the underlying condition when appropriate. For individuals in whom itching is a major problem, soothing antipruritic lotions containing menthol and camphor may be helpful. Sedating antihistamines such as hydroxyzine may also be helpful for pruritus, especially at night. Some improvement has been reported with high doses of vitamin A, with or without vitamin E. Topical retinoic acid cream may also improve the symptoms. Another approach to treatment uses oral retinoids, which resulted in alleviation of symptoms in one study. Etretinate in high doses is also reportedly effective, but relapse has been reported following discontinuation of therapy. UV light therapy is reportedly particularly helpful for individuals with widespread lesions or coexisting pruritus from renal or hepatic disease. Carbon dioxide laser or cryosurgery may be helpful for limited lesions, but caution may be recommended for individuals with dark skin, especially with cryosurgery, and for lesions on the lower legs, particularly in patients with diabetes mellitus or poor circulation.",31263 What are the treatments for Agenesis of the Corpus Callosum ?,"There is no standard course of treatment for ACC. Treatment usually involves management of symptoms and seizures if they occur. Associated difficulties are much more manageable with early recognition and therapy, especially therapies focusing on left/right coordination. Early diagnosis and interventions are currently the best treatments to improve social and developmental outcomes.",31264 Is tyrosine hydroxylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",31265 Does vEGF correlate with inflammation and fibrosis in tuberculous pleural effusion?,Effusion VEGF correlates with pleural inflammation and fibrosis and may be targeted for adjunct therapy for TBPE.,31266 What is (are) Warts ?,"Warts are growths on your skin caused by an infection with humanpapilloma virus, or HPV. Types of warts include - Common warts, which often appear on your fingers - Plantar warts, which show up on the soles of your feet - Genital warts, which are a sexually transmitted disease - Flat warts, which appear in places you shave frequently In children, warts often go away on their own. In adults, they tend to stay. If they hurt or bother you, or if they multiply, you can remove them. Chemical skin treatments usually work. If not, various freezing, surgical and laser treatments can remove warts.",31267 What causes Hypolipoproteinemia ?,"Cholesterol levels in general are thought to be influenced by genetic factors. Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention disease. Hypobetalipoproteinemia is inherited in an autosomal dominant fashion. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Each affected person usually has one affected parent. Autosomal dominant disorders tend to occur in every generation of an affected family. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition. In some families the condition is due to mutations in a gene called APOB, in other families the underlying mutation has not been identified. People with this condition usually do not experience symptoms. People who inherit two hypobetalipoproteinemia gene mutations may have extremely low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). Some of these individuals have no symptoms while others have developed fatty liver, intestinal fat malabsorption, and neurological problems. Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. Mutations in the MTTP gene cause abetalipoproteinemia. It is passed through families in an autosomal recessive pattern. Click here to learn more about autosomal recessive inheritance. The signs and symptoms of abetalipoproteinemia may include failure to thrive, diarrhea, abnormal star-shaped red blood cells, and fatty, foul-smelling stools in infants, nervous system impairment in children, retinitis pigmentosa and difficulty with balance and walking in childhood or adulthood. Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide and is also inherited in an autosomal recessive pattern. The signs and symptoms appear in the first few months of life and may include failure to thrive, diarrhea, fatty, foul-smelling stools, and later nervous system impairment. Other genetic conditions characterized by hypolipoproteinemia include, but is not limited to: Lecithin acyltransferase deficiency Tangier Disease",31268 Does insulin modulate Liver Function in a Type I Diabetes Rat Model?,These results together suggest that insulin attenuates liver dysfunction during early two-puncture CLP-induced peritoneal inflammation in diabetic rats.,31269 What is (are) Gastrointestinal Carcinoid Tumors ?,"Key Points - A gastrointestinal carcinoid tumor is cancer that forms in the lining of the gastrointestinal tract. - Health history can affect the risk of gastrointestinal carcinoid tumors. - Some gastrointestinal carcinoid tumors have no signs or symptoms in the early stages. - Carcinoid syndrome may occur if the tumor spreads to the liver or other parts of the body. - Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose gastrointestinal carcinoid tumors. - Certain factors affect prognosis (chance of recovery) and treatment options. A gastrointestinal carcinoid tumor is cancer that forms in the lining of the gastrointestinal tract. The gastrointestinal (GI) tract is part of the body's digestive system. It helps to digest food, takes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from food to be used by the body and helps pass waste material out of the body. The GI tract is made up of these and other organs: - Stomach. - Small intestine (duodenum, jejunum, and ileum). - Colon. - Rectum. Gastrointestinal carcinoid tumors form from a certain type of neuroendocrine cell (a type of cell that is like a nerve cell and a hormone -making cell). These cells are scattered throughout the chest and abdomen but most are found in the GI tract. Neuroendocrine cells make hormones that help control digestive juices and the muscles used in moving food through the stomach and intestines. A GI carcinoid tumor may also make hormones and release them into the body. GI carcinoid tumors are rare and most grow very slowly. Most of them occur in the small intestine, rectum, and appendix. Sometimes more than one tumor will form. See the following PDQ summaries for more information related to GI and other types of carcinoid tumors: - Non-Small Cell Lung Cancer Treatment. - Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) Treatment. - Rectal Cancer Treatment. - Small Intestine Cancer Treatment. - Unusual Cancers of Childhood Treatment Carcinoid syndrome may occur if the tumor spreads to the liver or other parts of the body. The hormones made by gastrointestinal carcinoid tumors are usually destroyed by liver enzymes in the blood. If the tumor has spread to the liver and the liver enzymes cannot destroy the extra hormones made by the tumor, high amounts of these hormones may remain in the body and cause carcinoid syndrome. This can also happen if tumor cells enter the blood. Signs and symptoms of carcinoid syndrome include the following: - Redness or a feeling of warmth in the face and neck. - Abdominal pain. - Feeling bloated. - Diarrhea. - Wheezing or other trouble breathing. - Fast heartbeat. These signs and symptoms may be caused by gastrointestinal carcinoid tumors or by other conditions. Talk to your doctor if you have any of these signs or symptoms.",31270 What are the treatments for Alagille Syndrome ?,"Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants' and children's bodies, correct nutritional deficiencies, and reduce the person's discomfort. Ursodiol (Actigall, Urso) is a medication that increases bile flow. Other treatments address specific symptoms of the disorder. Liver failure. People with Alagille syndrome who develop end-stage liver failure need a liver transplant with a whole liver from a deceased donor or a segment of a liver from a living donor. People with Alagille syndrome who also have heart problems may not be candidates for a transplant because they could be more likely to have complications during and after the procedure. A liver transplant surgical team performs the transplant in a hospital. More information is provided in the NIDDK health topic, Liver Transplantation. Pruritus. Itching may decrease when the flow of bile from the liver is increased. Medications such as cholestyramine (Prevalite), rifampin (Rifadin, Rimactane), naltrexone (Vivitrol), or antihistamines may be prescribed to relieve pruritus. People should hydrate their skin with moisturizers and keep their fingernails trimmed to prevent skin damage from scratching. People with Alagille syndrome should avoid baths and take short showers to prevent the skin from drying out. If severe pruritus does not improve with medication, a procedure called partial external biliary diversion may provide relief from itching. The procedure involves surgery to connect one end of the small intestine to the gallbladder and the other end to an opening in the abdomencalled a stomathrough which bile leaves the body and is collected in a pouch. A surgeon performs partial external biliary diversion in a hospital. The patient will need general anesthesia. Malabsorption and growth problems. Infants with Alagille syndrome are given a special formula that helps the small intestine absorb much-needed fat. Infants, children, and adults can benefit from a high-calorie diet, calcium, and vitamins A, D, E, and K. They may also need additional zinc. If someone with Alagille syndrome does not tolerate oral doses of vitamins, a health care provider may give the person injections for a period of time. A child may receive additional calories through a tiny tube that is passed through the nose into the stomach. If extra calories are needed for a long time, a health care provider may place a tube, called a gastrostomy tube, directly into the stomach through a small opening made in the abdomen. A child's growth may improve with increased nutrition and flow of bile from the liver. Xanthomas. For someone who has Alagille syndrome, these fatty deposits typically worsen over the first few years of life and then improve over time. They may eventually disappear in response to partial external biliary diversion or the medications used to increase bile flow.",31271 Does very low cerebral blood volume predict parenchymal hematoma in acute ischemic stroke?,Very low CBV was the only independent predictor of PH in patients with acute stroke.,31272 Do time lapse and comorbidities influence patient knowledge and pursuit of medical care after traumatic splenectomy?,"Trauma patients retain minimal knowledge about infection risk after splenectomy and are not likely to pursue appropriate medical care. Time since injury negatively influences patient actions. Healthcare providers must be more proactive to develop new strategies in educating these patients, particularly those without comorbidities and those greater than 3 years postsplenectomy.",31273 What are the treatments for Hypopharyngeal Cancer ?,"Key Points - There are different types of treatment for patients with hypopharyngeal cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. There are different types of treatment for patients with hypopharyngeal cancer. Different types of treatment are available for patients with hypopharyngeal cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. Three types of standard treatment are used: Surgery Surgery (removing the cancer in an operation) is a common treatment for all stages of hypopharyngeal cancer. The following surgical procedures may be used: - Laryngopharyngectomy: Surgery to remove the larynx (voice box) and part of the pharynx (throat). - Partial laryngopharyngectomy: Surgery to remove part of the larynx and part of the pharynx. A partial laryngopharyngectomy prevents loss of the voice. - Neck dissection: Surgery to remove lymph nodes and other tissues in the neck. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat hypopharyngeal cancer. Radiation therapy may work better in patients who have stopped smoking before beginning treatment. External radiation therapy to the thyroid or the pituitary gland may change the way the thyroid gland works. A blood test to check the thyroid hormone level in the body may be done before and after therapy to make sure the thyroid gland is working properly. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Chemotherapy may be used to shrink the tumor before surgery or radiation therapy. This is called neoadjuvant chemotherapy. See Drugs Approved for Head and Neck Cancer for more information. (Hypopharyngeal cancer is a type of head and neck cancer.) New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. Follow-up tests may be needed. Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. For hypopharyngeal cancer, follow-up to check for recurrence should include careful head and neck exams once a month in the first year after treatment ends, every 2 months in the second year, every 3 months in the third year, and every 6 months thereafter. Treatment Options by Stage Stage I Hypopharyngeal Cancer Treatment of stage I hypopharyngeal cancer may include the following: - Laryngopharyngectomy and neck dissection with or without high-dose radiation therapy to the lymph nodes of the neck. - Partial laryngopharyngectomy with or without high-dose radiation therapy to the lymph nodes on both sides of the neck. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I hypopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Stage II Hypopharyngeal Cancer Treatment of stage II hypopharyngeal cancer may include the following: - Laryngopharyngectomy and neck dissection. High-dose radiation therapy to the lymph nodes of the neck may be given before or after surgery. - Partial laryngopharyngectomy. High-dose radiation therapy to the lymph nodes of the neck may be given before or after surgery. - Chemotherapy given during or after radiation therapy or after surgery. - A clinical trial of chemotherapy followed by radiation therapy or surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II hypopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Stage III Hypopharyngeal Cancer Treatment of stage III hypopharyngeal cancer may include the following: - Radiation therapy before or after surgery. - Chemotherapy given during or after radiation therapy or after surgery. - A clinical trial of chemotherapy followed by surgery and/or radiation therapy. - A clinical trial of chemotherapy given at the same time as radiation therapy. - A clinical trial of surgery followed by chemotherapy given at the same time as radiation therapy. Treatment and follow-up of stage III hypopharyngeal cancer is complex and is ideally overseen by a team of specialists with experience and expertise in treating this type of cancer. If all or part of the hypopharynx is removed, the patient may need plastic surgery and other special help with breathing, eating, and talking. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III hypopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Stage IV Hypopharyngeal Cancer Treatment of stage IV hypopharyngeal cancer that can be treated with surgery may include the following: - Radiation therapy before or after surgery. - A clinical trial of chemotherapy followed by surgery and/or radiation therapy. - A clinical trial of surgery followed by chemotherapy given at the same time as radiation therapy. Surgical treatment and follow-up of stage IV hypopharyngeal cancer is complex and is ideally overseen by a team of specialists with experience and expertise in treating this type of cancer. If all or part of the hypopharynx is removed, the patient may need plastic surgery and other special help with breathing, eating, and talking. Treatment of stage IV hypopharyngeal cancer that cannot be treated with surgery may include the following: - Radiation therapy. - Chemotherapy given at the same time as radiation therapy. - A clinical trial of radiation therapy with chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV hypopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",31274 Is familial atrial fibrillation inherited ?,"Familial atrial fibrillation appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",31275 What are the treatments for Linear porokeratosis ?,"Because linear porokeratosis is a rare condition, there is no established treatment protocol. Protection from sun exposure and regular visits to a doctor to check for skin cancer are encouraged as routine care. Treatment options depend on the size, location, and severity of the characteristic skin markings. Several medications (5-fluorouracil, acitretin) have been shown to be effective for treating this condition in a small number of patients. We identified a single report of photodynamic therapy being used to successfully treat an individual with linear porokeratosis. Surgery is recommended to remove any skin cancer that may develop.",31276 Does material hardship alter the diurnal rhythm of salivary cortisol?,"Material hardship among poor women is associated with changes in the diurnal rhythms of cortisol, particularly in the waking response, which is blunted in women with high levels of hardship.",31277 Does nephrectomy improve the survival of patients with locally advanced renal cell carcinoma?,"Relative to non-surgical treatment, nephrectomy improves the cancer-specific survival of patients with locally advanced RCC; our findings await prospective confirmation.",31278 Do stress hormones predict cerebrovascular re-events after transient ischemic attacks?,"Measurement of plasma copeptin but not cortisol levels in patients with TIA provides additional prognostic information beyond the ABCD2 clinical risk score alone. If confirmed in future studies, routine copeptin measurement may be an additional tool for risk stratification and targeted resource allocation after TIA.",31279 Do you have information about Child Development,"Summary : As children grow older, they develop in several different ways. Child development includes physical, intellectual, social, and emotional changes. Children grow and mature at very different rates. It's hard to say what ""normal"" is. There can be big differences in height, weight, and build among healthy children. Diet, exercise and genes are all factors. Some children begin puberty or are close to it before they are teenagers. Children start to become more independent from their parents. They may rebel. They also look outward - to their friends, who are usually of the same sex. Peer approval becomes very important. Your child may try new behaviors to be part of ""the group."" This can also be the time that parents or teachers recognize learning disabilities or behavioral problems in children. These problems can get worse as time goes on, so it is important to get help early.",31280 What is (are) chronic granulomatous disease ?,"Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes. Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system. Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.",31281 Does practitioner attribute as predictors of restrictive practices in assertive community treatment?,"This study indicates the need to identify practitioner-related factors that may contribute to the high use of restrictive practices, and develop and implement relevant staff training.",31282 Is spastic paraplegia type 8 inherited ?,"Spastic paraplegia type 8 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",31283 Is Barth syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",31284 Does effective NSAID treatment indicate that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia?,"Clinical features of childhood HP related to pain in the lower legs may be, at least in part, sequelae related to elevated PG levels, secondary to the primary metabolic defect. Consequently, NSAID treatment does improve the clinical features of childhood HP.",31285 Does accumulation of promutagenic DNA adducts in the mouse distal colon after consumption of heme induce colonic neoplasms in the western diet model of spontaneous colorectal cancer?,"We identified heme to increase proliferation in the short term, inhibit apoptosis over the long term, and increase O(6) MeG adducts in the colon over time although these changes did not affect colonic neoplasms within this mouse model.",31286 "Is Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 inherited ?","More than 130 mutations (changes) in the FOXL2 gene have been found to cause BPES. It has been reported that mutations that lead to a significantly shortened FOXL2 protein often cause BPES type I (characterized by eyelid malformations and premature ovarian failure (POF)), while mutations that result in an extra long FOXL2 protein may cause BPES type II (which involves only eyelid malformations). However, in a study published in 2003 in the American Journal of Human Genetics, the authors discussed how their study was the first to demonstrate intra- and interfamilial phenotypic variability (i.e. both BPES types caused by the same mutation). They discuss how assigning an affected family a diagnosis of either BPES type I or II is not always possible because of this. The article also discusses a previous report of menstrual abnormalities and reduced female fertility in two families with BPES type II, suggesting overlap between both BPES types, as well as a report of a family with BPES type I in which the first generations of affected females are infertile while three affected young women in the youngest generation appear to have normal pelvic ultrasound and hormone levels. They do caution that in this family, the early age of the affected women may preclude an accurate prediction of whether they will have POF, since the onset of POF usually occurs at a later age. Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation; the cause of the condition in these people is unknown, and therefore there is no information on whether there may be variation within families for these affected individuals.",31287 Does transcutaneous electrical nerve stimulation augment combined spinal epidural labour analgesia?,"In healthy labouring parturients, the application of a TENS unit did not alter the quality or duration of labour analgesia provided by the spinal portion of CSE analgesia.",31288 What is (are) hypochromic microcytic anemia with iron overload ?,"Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iron in the blood, so there is a decrease of red blood cell production (anemia) that is apparent at birth. The red blood cells that are produced are abnormally small (microcytic) and pale (hypochromic). Hypochromic microcytic anemia with iron overload can lead to pale skin (pallor), tiredness (fatigue), and slow growth. In hypochromic microcytic anemia with iron overload, the iron that is not used by red blood cells accumulates in the liver, which can impair its function over time. The liver problems typically become apparent in adolescence or early adulthood.",31289 Does transcriptomics of cryophilic Saccharomyces kudriavzevii reveal the key role of gene translation efficiency in cold stress adaptations?,"This work confirms that S. kudriavzevii is able to grow at low temperatures, an interesting ability for different industrial applications. We propose that this adaptation is based on its enhanced ability to initiate a quick, efficient translation of crucial genes in cold adaptation among others, a mechanism that has been suggested for other microorganisms.",31290 How many people are affected by spastic paraplegia type 15 ?,"Spastic paraplegia type 15 is a rare condition, although its exact prevalence is unknown.",31291 Does hexahydrocurcumin enhance inhibitory effect of 5-fluorouracil on HT-29 human colon cancer cells?,HHC together with 5-FU exerts a synergistic effect and may prove chemotherapeutically useful in treating human colon cancer.,31292 Is prehospital intravenous fluid associated with increased survival in trauma patients?,Prehospital IVF volumes commonly used by PRospective Observational Multicenter Massive Transfusion Study (PROMMTT) investigators do not result in increased systolic blood pressure but are associated with decreased in-hospital mortality in trauma patients compared with patients who did not receive prehospital IVF.,31293 Is trainee participation associated with adverse outcomes in emergency general surgery : an analysis of the National Surgical Quality Improvement Program database?,Trainee participation is associated with adverse outcomes in emergency general surgery procedures.,31294 Does [ Cancer stem cells promote resistance of laryngeal squamous cancer to irradiation mediated by hypoxia ]?,We can conclude that cancer stem cells play an important role in radioresistance mediated by hypoxia.,31295 Does correction for heart rate variability improve coronary magnetic resonance angiography?,Preliminary results suggest that HRV correction improves objective and subjective image quality in coronary MRA. Continued studies in patients with known or suspected coronary artery disease are warranted to investigate the clinical impact of this technique.,31296 What is the outlook for Paresthesia ?,The prognosis for those with paresthesia depends on the severity of the sensations and the associated disorders.,31297 Is hepatic encephalopathy in rats with thioacetamide-induced acute liver failure mediated by endogenous benzodiazepines?,"In rats with thioacetamide-induced liver failure, endogenous benzodiazepines do not precipitate hepatic encephalopathy. The amelioration of hepatic encephalopathy is mediated by benzodiazepine receptor ligands with both antagonistic and inverse agonistic properties.",31298 Does tissue Doppler imaging show infraclinical alteration of myocardial function after contrast echocardiography?,"Our data suggest that CE does not cause alterations in the myocardial function as assessed by tissue Doppler imaging. CE, even with high MI settings, usually used for left ventricular opacification, can be safely performed.",31299 How many people are affected by hereditary fructose intolerance ?,"The incidence of hereditary fructose intolerance is estimated to be 1 in 20,000 to 30,000 individuals each year worldwide.",31300 Is s-1 plus nab-paclitaxel a promising regimen for pancreatic cancer in a preclinical model?,"S-1 and nab-paclitaxel had a synergetic effect in preclinical studies with good tolerability, and may play a role in stromal depletion and tumor angiogenesis. J. Surg. Oncol. 2016;113:413-419. © 2016 Wiley Periodicals, Inc.",31301 What are the symptoms of Zlotogora syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Zlotogora syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the philtrum - Anodontia - Anteverted ears - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Cutaneous finger syndactyly - Cutaneous syndactyly of toes - Hypodontia - Hypohidrosis - Microdontia - Nail dysplasia - Palmoplantar hyperkeratosis - Progressive hypotrichosis - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31302 Does assessments of skin and tongue microcirculation reveal major changes in porcine sepsis?,  Capillary bleedings may be used as an early indication of severe sepsis. Examination of skin and tongue microcirculations may be used to characterize severity of sepsis and possibly to assess effect of treatment.,31303 "Are soluble CD95 concentrations increased in patients with severe systemic lupus erythematosus , but not in their first degree relatives?",Soluble CD95 concentrations are associated with severity of the disease and not with susceptibility for severe SLE.,31304 What are the treatments for Arteriovenous Malformation ?,"Treatment options depend on the type of AVM, its location, noticeable symptoms, and the general health condition of the individual. Medication can often alleviate general symptoms such as headache, back pain, and seizures caused by AVMs and other vascular lesions. The definitive treatment for AVMs is either surgery to either remove the AVM or to create an artificial blood clot to close the lesion or focused irradiation treatment that is designed to damage the blood vessel walls and close the lesion. The decision to treat an AVM requires a careful consideration of possible benefits versus risks.",31305 Does deep sequencing reveal cell-type-specific patterns of single-cell transcriptome variation?,"Single-cell RNA-sequencing data provide a unique view of transcriptome function; however, careful analysis is required in order to use single-cell RNA-sequencing measurements for this purpose. Technical variation must be considered in single-cell RNA-sequencing studies of expression variation. For a subset of genes, biological variability within each cell type appears to be regulated in order to perform dynamic functions, rather than solely molecular noise.",31306 What are the treatments for Pernicious Anemia ?,"Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia may need lifelong treatment. The goals of treating pernicious anemia include: Preventing or treating the anemia and its signs and symptoms Preventing or managing complications, such as heart and nerve damage Treating the cause of the pernicious anemia (if a cause can be found) Specific Types of Treatment Pernicious anemia usually is easy to treat with vitamin B12 shots or pills. If you have severe pernicious anemia, your doctor may recommend shots first. Shots usually are given in a muscle every day or every week until the level of vitamin B12 in your blood increases. After your vitamin B12 blood level returns to normal, you may get a shot only once a month. For less severe pernicious anemia, your doctor may recommend large doses of vitamin B12 pills. A vitamin B12 nose gel and spray also are available. These products may be useful for people who have trouble swallowing pills, such as older people who have had strokes. Your signs and symptoms may begin to improve within a few days after you start treatment. Your doctor may advise you to limit your physical activity until your condition improves. If your pernicious anemia is caused by something other than a lack of intrinsic factor, you may get treatment for the cause (if a cause can be found). For example, your doctor may prescribe medicines to treat a condition that prevents your body from absorbing vitamin B12. If medicines are the cause of your pernicious anemia, your doctor may change the type or dose of medicine you take. Infants of strict vegetarian mothers may be given vitamin B12 supplements from birth.",31307 How to prevent Hendra Virus Disease (HeV) ?,"The occurrence of the disease in humans has been associated only with infection of an intermediate species such as horses. Early recognition of the disease in the intermediate animal host is probably the most crucial means of limiting future human cases. Hendra virus infection can be prevented by avoiding horses that are ill or may be infected with HeV and using appropriate personal protective equipment when contact is necessary, as in veterinary procedures. A commercial vaccine has been recently licensed in Australia for horses and could be beneficial for other animal species and eventually humans.",31308 What are the genetic changes related to purine nucleoside phosphorylase deficiency ?,"Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful invaders by making immune proteins called antibodies that tag foreign particles and germs for destruction or by directly attacking virus-infected cells. Lymphocytes are produced in specialized lymphoid tissues including the thymus and lymph nodes and then released into the blood. The thymus is a gland located behind the breastbone; lymph nodes are found throughout the body. Lymphocytes in the blood and in lymphoid tissues make up the immune system. Purine nucleoside phosphorylase is known as a housekeeping enzyme because it clears away waste molecules that are generated when DNA is broken down. Mutations in the PNP gene reduce or eliminate the activity of purine nucleoside phosphorylase. The resulting excess of waste molecules and further reactions involving them lead to the buildup of a substance called deoxyguanosine triphosphate (dGTP) to levels that are toxic to lymphocytes. Immature lymphocytes in the thymus are particularly vulnerable to a toxic buildup of dGTP, which damages them and triggers their self-destruction (apoptosis). The number of lymphocytes in other lymphoid tissues is also greatly reduced, resulting in the immune deficiency characteristic of purine nucleoside phosphorylase deficiency.",31309 What is (are) osteogenesis imperfecta ?,"Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term ""osteogenesis imperfecta"" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, although their characteristic features overlap. Type I is the mildest form of osteogenesis imperfecta and type II is the most severe; other types of this condition have signs and symptoms that fall somewhere between these two extremes. Increasingly, genetic factors are used to define the different forms of osteogenesis imperfecta. The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that may begin before birth and result from little or no trauma. Additional features of these conditions can include blue sclerae, short stature, hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities have life-threatening problems with breathing and often die shortly after birth.",31310 Do female patients display poorer burn-specific quality of life 12 months after a burn injury?,"Even though demographic variables, injury characteristics and burn care interventions were similar across genders, following burn injury female patients reported greater impairments in generic and burn-specific HRQoL along with psychological morbidity, when compared to male patients. Urgent clinical and research attention utilising an evidence-based research framework, which incorporates the use of larger sample sizes, the use of validated instruments to measure appropriate outcomes, and a commitment to monitoring long-term care, can only improve burn-care.",31311 Is Merkel cell carcinoma inherited ?,"To our knowledge, there currently is no evidence that Merkel cell carcinoma (MCC) is inherited. While DNA changes (mutations) found in the cells of MCC tumors can lead to MCC, these types of mutations are not inherited from a person's parents. They are referred to as somatic mutations and occur during a person's lifetime, often as random events. Sometimes, something in the environment can lead to a somatic mutation, such as long-term sun exposure or infection with the Merkel cell polyomavirus. These are known risk factors for developing MCC.",31312 What are the treatments for 3-hydroxyacyl-CoA dehydrogenase deficiency ?,These resources address the diagnosis or management of 3-hydroxyacyl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 3-hydroxyacyl-CoA dehydrogenase - United Mitochondrial Disease Foundation: Treatments & Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,31313 How many people are affected by factor V deficiency ?,"Factor V deficiency affects an estimated 1 in 1 million people. This condition is more common in countries such as Iran and southern India, where it occurs up to ten times more frequently than in western countries.",31314 Does carbon dioxide laser cordectomy for verrucous carcinoma of vocal fold?,"Type I or II laser cordectomy is a safe, feasible, secure method of treating verrucous carcinoma of the vocal folds. There were no major complications in our patient series. Most recurrent disease was manageable locally with repeated surgery.",31315 What is (are) Birt-Hogg-Dube syndrome ?,"Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.",31316 What are the genetic changes related to beta-ketothiolase deficiency ?,"Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, the ACAT1 enzyme helps process isoleucine, which is a building block of many proteins, and ketones, which are produced during the breakdown of fats. Mutations in the ACAT1 gene reduce or eliminate the activity of the ACAT1 enzyme. A shortage of this enzyme prevents the body from processing proteins and fats properly. As a result, related compounds can build up to toxic levels in the blood. These substances cause the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs, particularly in the nervous system.",31317 What are the symptoms of X-linked dominant scapuloperoneal myopathy ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked dominant scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Arrhythmia - Autosomal dominant inheritance - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Flexion contracture - Foot dorsiflexor weakness - Hyporeflexia - Lower limb muscle weakness - Myofibrillar myopathy - Scapular winging - Scapuloperoneal myopathy - Skeletal muscle atrophy - Slow progression - Steppage gait - Waddling gait - Weakness of facial musculature - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31318 what research (or clinical trials) is being done for Myoclonus ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to myoclonus in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Scientists are seeking to understand the underlying biochemical basis of involuntary movements and to find the most effective treatment for myoclonus and other movement disorders. Researchers may be able to develop drug treatments that target specific biochemical changes involved in myoclonus. By combining several of these drugs, scientists hope to achieve greater control of myoclonic symptoms.",31319 Does glutamine-supplemented total parenteral nutrition attenuate plasma interleukin-6 in surgical patients with lower disease severity?,"TPN supplemented with Gln dipeptide had no effect on plasma IL-8 levels after surgery. However, Gln supplementation had a beneficial effect on decreasing systemic IL-6 production after surgery in patients with low admission illness severity, and lower plasma IL-6 may improve nitrogen balance in patients with abdominal surgery when Gln was administered.",31320 Are maternal smoking habits associated with differences in infants ' long-chain polyunsaturated fatty acids in whole blood : a case-control study?,"Maternal smoking is associated with a reduction in LCPUFA pools in infants, which might have structural and functional consequences.",31321 How to diagnose Problems with Smell ?,"Scientists have developed tests to determine the nature and extent of a person's smell disorder. Tests measure the smallest amount of odor patients can detect as well as how accurately a person can identify different smells. An easily administered ""scratch and sniff"" test allows a person to scratch pieces of paper treated to release different odors, sniff them, and try to identify each odor from a list of possibilities. In this way, doctors can determine whether a person has a decreased ability to smell (hyposmia), the inability to detect any odors (anosmia), or another kind of smell disorder. In some cases, your doctor may need to perform a nasal examination with a nasal endoscope, an instrument that illuminates and magnifies the areas of the nose where the problem may exist. This test can help identify the area and extent of the problem and help your doctor select the right treatment. If your doctor suspects that upper regions of the nose and nasal sinuses that can't be seen by an endoscope are involved, he or she may order a specialized X-ray procedure, usually a CT scan, to look further into the nose and sinuses.",31322 What are the symptoms of Intestinal Pseudo-obstruction ?,"Intestinal pseudo-obstruction symptoms may include - abdominal swelling or bloating, also called distension - abdominal pain - nausea - vomiting - constipation - diarrhea Over time, the condition can cause malnutrition, bacterial overgrowth in the intestines, and weight loss. Malnutrition is a condition that develops when the body does not get the right amount of the vitamins, minerals, and other nutrients it needs to maintain healthy tissues and organ function. Some people develop problems with their esophagus, stomach, or bladder.",31323 Does activation of EGFR and ERBB2 by Helicobacter pylori result in survival of gastric epithelial cells with DNA damage?,"In an analysis of gastric tissues from mice and patients, we identified a molecular signature (based on levels of pEGFR, pERBB2, and SMOX) for the initiation of gastric carcinogenesis.",31324 What are the symptoms of Penile Cancer ?,"Signs of penile cancer include sores, discharge, and bleeding. These and other signs may be caused by penile cancer or by other conditions. Check with your doctor if you have any of the following: - Redness, irritation, or a sore on the penis. - A lump on the penis.",31325 What are the treatments for WaterhouseFriderichsen syndrome ?,Treatment may include antibiotics and glucocorticoids. Other treatment is symptomatic and supportive.,31326 Is glucose-6-phosphate dehydrogenase deficiency inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",31327 What is (are) Shapiro syndrome ?,"Shapiro syndrome is a rare disease affecting about 50 people worldwide that is typically characterized by recurrent episodes of excessive sweating and hypothermia and the agenesis of the corpus callosum. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and occurring from hours to years; the reason for the variations in the episodes is not yet known. The cause of the condition is currently unknown; however, a ""resetting"" of the temperature of the body to a lower level has been suggested. Although different treatment options have been attempted in some patients, the treatments have been unsuccessful or of doubtful efficacy because of the small number of individuals that have been documented as having this condition.",31328 Does quercetin interfere with iron metabolism in Leishmania donovani and targets ribonucleotide reductase to exert leishmanicidal activity?,Results have implications for improved leishmanicidal action of Qr in combination with SA targeting RR and suggest future drug design based on interference with the parasite's iron metabolism under in vivo conditions.,31329 Do blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients?,Our data suggest that BDNF levels could be involved in the severity of the disease through the modulation of psychopathological traits that are associated with the ED phenotype.,31330 Is Metachromatic leukodystrophy inherited ?,"Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. Typically, an individual is affected because they inherited a mutated copy of the gene from each parent. Individuals with one mutated copy of the gene (such as an unaffected parent of an affected individual) are referred to as carriers; carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",31331 Is operative link on gastritis assessment stage an appropriate predictor of early gastric cancer?,OLGA classification is optimal for EGC screening. A surveillance program including OLGA stage and H. pylori infection status may facilitate early detection of gastric cancer.,31332 "Are tP53 , BRCA1 , and BRCA2 tumor suppressor genes commonly mutated in survivors of Hodgkin 's disease with second primary neoplasms?","Despite features suggestive of genetic predisposition, the TP53, BRCA1, and BRCA2 genes were not frequently mutated in this cohort of HD patients developing SMNs. Larger studies of these genes or investigations of other genes involved in cellular DNA damage response pathways may identify host genetic factors that contribute to secondary tumorigenesis.",31333 Does nitric oxide augment mesenchymal stem cell ability to repair liver fibrosis?,This study demonstrated that NO effectively augments MSC ability to repair liver fibrosis induced by CCl(4) in mice and therefore is a better treatment regimen to reduce liver fibrosis.,31334 Does hyperbaric oxygen accelerate latent in vivo prostate cancer : implications for the treatment of radiation-induced haemorrhagic cystitis?,"HBO2 does not accelerate the growth of indolent prostate cancer in a murine model, suggesting that it does not increase the risk of residual prostate cancer reactivation when it is used to manage radiation-induced haemorrhagic cystitis in patients treated by pelvic radiotherapy for prostate cancer.",31335 Are dnaK and GroEL chaperones recruited to the Bacillus subtilis membrane after short-term ethanol stress?,"In B. subtilis, the adaptive response to short-term ethanol stress comprises the recruitment of molecular chaperones on the impaired membrane structure; consequently, the phospholipid synthesis is restored and membrane fluidity adapts properly to the continuing ethanol stress.",31336 Does the napkin-ring sign indicate advanced atherosclerotic lesions in coronary CT angiography?,The assessment of the plaque pattern improves diagnostic accuracy of CCTA to identify advanced atherosclerotic lesions. The CCTA finding of NRS has a high specificity and high positive predictive value for the presence of advanced lesions.,31337 How to diagnose Nasopharyngeal Cancer ?,"Tests that examine the nose and throat are used to detect (find) and diagnose nasopharyngeal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as swollen lymph nodes in the neck or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue sample is removed during one of the following procedures: - Nasoscopy : A procedure to look inside the nose for abnormal areas. A nasoscope is inserted through the nose. A nasoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Upper endoscopy : A procedure to look at the inside of the nose, throat, esophagus, stomach, and duodenum (first part of the small intestine, near the stomach). An endoscope is inserted through the mouth and into the esophagus, stomach, and duodenum. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples. The tissue samples are checked under a microscope for signs of cancer. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. PET scans may be used to find nasopharyngeal cancers that have spread to the bone. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Epstein-Barr virus (EBV) test: A blood test to check for antibodies to the Epstein-Barr virus and DNA markers of the Epstein-Barr virus. These are found in the blood of patients who have been infected with EBV. - Hearing test: A procedure to check whether soft and loud sounds and low- and high-pitched sounds can be heard. Each ear is checked separately.",31338 Is infliximab `` Top-Down '' Strategy Superior to `` Step-Up '' in Maintaining Long-Term Remission in the Treatment of Pediatric Crohn Disease?,"""Top-down"" strategy had a longer remission period compared with the ""step-up"" strategy in pediatric Crohn disease during a study period of 3 years, based on relapse-free rate and remission period rate. Earlier introduction of infliximab is recommended in pediatric patients with moderate to severe Crohn disease.",31339 Is Lowe syndrome inherited ?,"This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Most X-linked disorders affect males much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In some cases of Lowe syndrome, an affected male inherits the mutation from a mother who carries one altered copy of the OCRL gene. Other cases result from new mutations in the gene and occur in males with no history of the disorder in their family. Females who carry one mutated copy of the OCRL gene do not have the characteristic features of Lowe syndrome. Most female carriers, however, have changes in the lens of the eye that can be observed with a thorough eye examination. These changes typically do not impair vision.",31340 What is (are) bradyopsia ?,"Bradyopsia is a rare condition that affects vision. The term ""bradyopsia"" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal. The vision problems associated with bradyopsia become apparent in early childhood. They are usually stable, which means they do not worsen over time.",31341 What is (are) Schindler disease ?,"Schindler disease is an inherited disorder that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form. Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired (developmental regression). As the disorder progresses, affected individuals develop blindness and seizures, and eventually they lose awareness of their surroundings and become unresponsive. People with this form of the disorder usually do not survive past early childhood. Schindler disease type II, also called Kanzaki disease, is a milder form of the disorder that usually appears in adulthood. Affected individuals may develop mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may experience weakness and loss of sensation due to problems with the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). Clusters of enlarged blood vessels that form small, dark red spots on the skin (angiokeratomas) are characteristic of this form of the disorder. Schindler disease type III is intermediate in severity between types I and II. Affected individuals may exhibit signs and symptoms beginning in infancy, including developmental delay, seizures, a weakened and enlarged heart (cardiomyopathy), and an enlarged liver (hepatomegaly). In other cases, people with this form of the disorder exhibit behavioral problems beginning in early childhood, with some features of autism spectrum disorders. Autism spectrum disorders are characterized by impaired communication and socialization skills.",31342 What is (are) Loeys-Dietz syndrome ?,"Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. There are four types of Loeys-Dietz syndrome, labelled types I through IV, which are distinguished by their genetic cause. Regardless of the type, signs and symptoms of Loeys-Dietz syndrome can become apparent anytime in childhood or adulthood, and the severity is variable. Loeys-Dietz syndrome is characterized by enlargement of the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. The aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection). People with Loeys-Dietz syndrome can also have aneurysms or dissections in arteries throughout the body and have arteries with abnormal twists and turns (arterial tortuosity). Individuals with Loeys-Dietz syndrome often have skeletal problems including premature fusion of the skull bones (craniosynostosis), an abnormal side-to-side curvature of the spine (scoliosis), either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum), an inward- and upward-turning foot (clubfoot), flat feet (pes planus), or elongated limbs with joint deformities called contractures that restrict the movement of certain joints. Degeneration of the discs that separate the bones of the spine (vertebrae), often affecting the neck, is a common finding. Some affected individuals have prominent joint inflammation (osteoarthritis) that commonly affects the knees and the joints of the hands, wrists, and spine. People with Loeys-Dietz syndrome may bruise easily and develop abnormal scars after wound healing. The skin is frequently described as translucent, often with stretch marks (striae) and visible underlying veins. Other characteristic features include widely spaced eyes (hypertelorism), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and an opening in the roof of the mouth (cleft palate). Individuals with Loeys-Dietz syndrome frequently develop immune system-related problems such as food allergies, asthma, or inflammatory disorders such as eczema or inflammatory bowel disease.",31343 What are the genetic changes related to VLDLR-associated cerebellar hypoplasia ?,"As its name suggests, VLDLR-associated cerebellar hypoplasia results from mutations in the VLDLR gene. This gene provides instructions for making a protein called a very low density lipoprotein (VLDL) receptor. Starting before birth, this protein plays a critical role in guiding the movement of developing nerve cells to their appropriate locations in the brain. Mutations in the VLDLR gene prevent cells from producing any functional VLDL receptor protein. Without this protein, developing nerve cells cannot reach the parts of the brain where they are needed. The resulting problems with brain development lead to ataxia and the other major features of this condition.",31344 What are the treatments for dopa-responsive dystonia ?,"These resources address the diagnosis or management of dopa-responsive dystonia: - Dartmouth-Hitchcock Children's Hospital at Dartmouth - Gene Review: Gene Review: Dystonia Overview - Gene Review: Gene Review: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia - Genetic Testing Registry: Dystonia 5, Dopa-responsive type - Genetic Testing Registry: Segawa syndrome, autosomal recessive - Genetic Testing Registry: Sepiapterin reductase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",31345 What are the treatments for Townes-Brocks Syndrome ?,These resources address the diagnosis or management of Townes-Brocks Syndrome: - Gene Review: Gene Review: Townes-Brocks Syndrome - Genetic Testing Registry: Townes syndrome - MedlinePlus Encyclopedia: Ear Disorders (image) - MedlinePlus Encyclopedia: Imperforate Anus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,31346 Is mRI highly specific in determining primary cervical versus endometrial cancer when biopsy results are inconclusive?,MRI has high sensitivity and specificity in determining the origin of the primary endometrial versus cervical tumours when endometrial/endocervical curettage is inconclusive.,31347 Is Fuchs endothelial corneal dystrophy inherited ?,"The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene (which is the early-onset form of the disease), it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional.",31348 Is elective surgery for diverticulitis associated with high risk of intestinal diversion and hospital readmission in older adults?,"As expected, older adults undergoing emergent/urgent surgical treatment for diverticulitis have significantly increased risks of poor outcomes compared with elective patients. While advancing age is associated with a substantial increase in mortality, intestinal diversion and 30-day readmission after surgery for diverticulitis, this affect is especially evident among patients undergoing elective colectomy. Our data suggest that given the considerable risk of prophylactic colon resection in elderly patients with sigmoid diverticulitis, a reappraisal of the proper role of elective colectomy in this population may be warranted.",31349 Does the biomineralization ability of mineral trioxide aggregate and Portland cement on dentin enhance the push-out strength?,"It was concluded that the biomineralization process positively influenced the push-out bond strength of the cements, particularly the MTA groups.",31350 What is (are) complete LCAT deficiency ?,"Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision. People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications. Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).",31351 What is (are) Leukemia ?,"Leukemia is a cancer of the blood cells. It usually begins in the bone marrow where blood cells are formed. In leukemia, the bone marrow produces abnormal white blood cells. Over time, as the number of abnormal white blood cells builds up in the blood, they crowd out healthy blood cells. This makes it difficult for the blood to carry out its normal functions.",31352 What is (are) Medicare and Continuing Care ?,"Medicare Part A is hospital insurance that helps cover inpatient care in hospitals. Part A also helps cover skilled nursing facility care for a limited period of time, hospice care, and home health care, if you meet certain conditions. Most people don't have to pay a monthly premium for Medicare Part A when they turn age 65 because they or a spouse paid Medicare taxes while they were working. If a person is hospitalized, Medicare helps pay for the following services. - Care - general nursing - Room - semiprivate room - Hospital services - meals, most services and supplies Care - general nursing Room - semiprivate room Hospital services - meals, most services and supplies If a person is hospitalized, Medicare does NOT pay for the following services. - Care - private-duty nursing - Room - private room (unless medically necessary) - Hospital services - television and telephone Care - private-duty nursing Room - private room (unless medically necessary) Hospital services - television and telephone For important information about Medicare Part A, visit http://www.medicare.gov to view or print copies of ""Your Medicare Benefits"" or ""Medicare & You."" (Under ""Search Tools,"" select ""Find a Medicare Publication."")",31353 What are the symptoms of Trichodental syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Trichodental syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Fine hair 90% Microcephaly 90% Narrow forehead 90% Narrow nasal bridge 90% Reduced number of teeth 90% Slow-growing hair 90% Autosomal dominant inheritance - Brittle hair - Conical tooth - Hypodontia - Shell teeth - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31354 Does dRD2 genotype predict prefrontal activity during working memory after stimulation of D2 receptors with bromocriptine?,These results indicate that bromocriptine stimulation modulates prefrontal activity in terms of disengagement or of efficiency depending on DRD2 genotype and working memory load.,31355 What are the treatments for Porencephaly ?,"Treatment may include physical therapy, medication for seizures, and the placement of a shunt in the brain to remove excess fluid in the brain.",31356 Does laparoscopic-assisted clearance of protein plug in the common channel in children with choledochal cysts?,"Laparoscopic-assisted clearance of the protein plugs in the common channel in choledochal cyst is effective, with good medium-term results observed.",31357 What is (are) Prevent diabetes problems: Keep your kidneys healthy ?,"Your kidneys are two bean-shaped organs, each about the size of a fist. They are located just below your rib cage, one on each side of your spine. Every day, your two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. Urine flows from your kidneys to your bladder through tubes called ureters. Your bladder stores urine until releasing it through urination.",31358 Do steroid hormones strongly support bovine articular cartilage integration in the absence of interleukin-1beta?,"This is the first study to demonstrate that steroid hormones such as 17beta-estradiol, DHEA, and testosterone stimulate articular cartilage integration. This effect is abrogated by low concentrations of IL-1beta. In the absence of IL-1beta or after neutralization of IL-1beta, steroid hormones might be favorable adjuvant compounds to optimize cartilage integration.",31359 What are the treatments for Breast Cancer ?,"Key Points - There are different types of treatment for patients with breast cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - Targeted therapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Treatment for breast cancer may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. There are different types of treatment for patients with breast cancer. Different types of treatment are available for patients with breast cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. Five types of standard treatment are used: Surgery Most patients with breast cancer have surgery to remove the cancer. Sentinel lymph node biopsy is the removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node where the cancer is likely to spread. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. After the sentinel lymph node biopsy, the surgeon removes the tumor using breast-conserving surgery or mastectomy. If cancer cells were not found in the sentinel lymph node, it may not be necessary to remove more lymph nodes. If cancer cells were found, more lymph nodes will be removed through a separate incision. This is called a lymph node dissection. Types of surgery include the following: - Breast-conserving surgery is an operation to remove the cancer and some normal tissue around it, but not the breast itself. Part of the chest wall lining may also be removed if the cancer is near it. This type of surgery may also be called lumpectomy, partial mastectomy, segmental mastectomy, quadrantectomy, or breast-sparing surgery. - Total mastectomy: Surgery to remove the whole breast that has cancer. This procedure is also called a simple mastectomy. Some of the lymph nodes under the arm may be removed and checked for cancer. This may be done at the same time as the breast surgery or after. This is done through a separate incision. - Modified radical mastectomy: Surgery to remove the whole breast that has cancer, many of the lymph nodes under the arm, the lining over the chest muscles, and sometimes, part of the chest wall muscles. Chemotherapy may be given before surgery to remove the tumor. When given before surgery, chemotherapy will shrink the tumor and reduce the amount of tissue that needs to be removed during surgery. Treatment given before surgery is called preoperative therapy or neoadjuvant therapy. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy, chemotherapy, or hormone therapy after surgery, to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called postoperative therapy or adjuvant therapy. If a patient is going to have a mastectomy, breast reconstruction (surgery to rebuild a breasts shape after a mastectomy) may be considered. Breast reconstruction may be done at the time of the mastectomy or at some time after. The reconstructed breast may be made with the patients own (nonbreast) tissue or by using implants filled with saline or silicone gel. Before the decision to get an implant is made, patients can call the Food and Drug Administration's (FDA) Center for Devices and Radiologic Health at 1-888-INFO-FDA (1-888-463-6332) or visit the FDA website for more information on breast implants. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat breast cancer. Internal radiation therapy with strontium-89 (a radionuclide) is used to relieve bone pain caused by breast cancer that has spread to the bones. Strontium-89 is injected into a vein and travels to the surface of the bones. Radiation is released and kills cancer cells in the bones. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Systemic chemotherapy is used in the treatment of breast cancer. See Drugs Approved for Breast Cancer for more information. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. The hormone estrogen, which makes some breast cancers grow, is made mainly by the ovaries. Treatment to stop the ovaries from making estrogen is called ovarian ablation. Hormone therapy with tamoxifen is often given to patients with early localized breast cancer that can be removed by surgery and those with metastatic breast cancer (cancer that has spread to other parts of the body). Hormone therapy with tamoxifen or estrogens can act on cells all over the body and may increase the chance of developing endometrial cancer. Women taking tamoxifen should have a pelvic exam every year to look for any signs of cancer. Any vaginal bleeding, other than menstrual bleeding, should be reported to a doctor as soon as possible. Hormone therapy with a luteinizing hormone-releasing hormone (LHRH) agonist is given to some premenopausal women who have just been diagnosed with hormone receptor positive breast cancer. LHRH agonists decrease the body's estrogen and progesterone. Hormone therapy with an aromatase inhibitor is given to some postmenopausal women who have hormone receptor positive breast cancer. Aromatase inhibitors decrease the body's estrogen by blocking an enzyme called aromatase from turning androgen into estrogen. Anastrozole, letrozole, and exemestane are types of aromatase inhibitors. For the treatment of early localized breast cancer that can be removed by surgery, certain aromatase inhibitors may be used as adjuvant therapy instead of tamoxifen or after 2 to 3 years of tamoxifen use. For the treatment of metastatic breast cancer, aromatase inhibitors are being tested in clinical trials to compare them to hormone therapy with tamoxifen. Other types of hormone therapy include megestrol acetate or anti-estrogen therapy such as fulvestrant. See Drugs Approved for Breast Cancer for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibodies, tyrosine kinase inhibitors, cyclin-dependent kinase inhibitors, mammalian target of rapamycin (mTOR) inhibitors, and PARP inhibitors are types of targeted therapies used in the treatment of breast cancer. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Monoclonal antibodies may be used in combination with chemotherapy as adjuvant therapy. Types of monoclonal antibody therapy include the following: - Trastuzumab is a monoclonal antibody that blocks the effects of the growth factor protein HER2, which sends growth signals to breast cancer cells. It may be used with other therapies to treat HER2 positive breast cancer. - Pertuzumab is a monoclonal antibody that may be combined with trastuzumab and chemotherapy to treat breast cancer. It may be used to treat certain patients with HER2 positive breast cancer that has metastasized (spread to other parts of the body). It may also be used as neoadjuvant therapy in certain patients with early stage HER2 positive breast cancer. - Ado-trastuzumab emtansine is a monoclonal antibody linked to an anticancer drug. This is called an antibody-drug conjugate. It is used to treat HER2 positive breast cancer that has spread to other parts of the body or recurred (come back). Tyrosine kinase inhibitors are targeted therapy drugs that block signals needed for tumors to grow. Tyrosine kinase inhibitors may be used with other anticancer drugs as adjuvant therapy. Tyrosine kinase inhibitors include the following: - Lapatinib is a tyrosine kinase inhibitor that blocks the effects of the HER2 protein and other proteins inside tumor cells. It may be used with other drugs to treat patients with HER2 positive breast cancer that has progressed after treatment with trastuzumab. Cyclin-dependent kinase inhibitors are targeted therapy drugs that block proteins called cyclin-dependent kinases, which cause the growth of cancer cells. Cyclin-dependent kinase inhibitors include the following: - Palbociclib is a cyclin-dependent kinase inhibitor used with the drug letrozole to treat breast cancer that is estrogen receptor positive and HER2 negative and has spread to other parts of the body. It is used in postmenopausal women whose cancer has not been treated with hormone therapy. Palbociclib may also be used with fulvestrant in women whose disease has gotten worse after treatment with hormone therapy. - Ribociclib is a cyclin-dependent kinase inhibitor used with letrozole to treat breast cancer that is hormone receptor positive and HER2 negative and has come back or spread to other parts of the body. It is used in postmenopausal women whose cancer has not been treated with hormone therapy. Mammalian target of rapamycin (mTOR) inhibitors block a protein called mTOR, which may keep cancer cells from growing and prevent the growth of new blood vessels that tumors need to grow. mTOR inhibitors include the following: - Everolimus is an mTOR inhibitor used in postmenopausal women with advanced hormone receptor positive breast cancer that is also HER2 negative and has not gotten better with other treatment. PARP inhibitors are a type of targeted therapy that block DNA repair and may cause cancer cells to die. PARP inhibitor therapy is being studied for the treatment of patients with triple negative breast cancer or tumors with BRCA1 or BRCA2 mutations. See Drugs Approved for Breast Cancer for more information. New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. Studies have shown that high-dose chemotherapy followed by stem cell transplant does not work better than standard chemotherapy in the treatment of breast cancer. Doctors have decided that, for now, high-dose chemotherapy should be tested only in clinical trials. Before taking part in such a trial, women should talk with their doctors about the serious side effects, including death, that may be caused by high-dose chemotherapy. Treatment for breast cancer may cause side effects. For information about side effects that begin during treatment for cancer, see our Side Effects page. Some treatments for breast cancer may cause side effects that continue or appear months or years after treatment has ended. These are called late effects. Late effects of radiation therapy are not common, but may include: - Inflammation of the lung after radiation therapy to the breast, especially when chemotherapy is given at the same time. - Arm lymphedema, especially when radiation therapy is given after lymph node dissection. - In women younger than 45 years who receive radiation therapy to the chest wall after mastectomy, there may be a higher risk of developing breast cancer in the other breast. Late effects of chemotherapy depend on the drugs used, but may include: - Heart failure. - Blood clots. - Premature menopause. - Second cancer, such as leukemia. Late effects of targeted therapy with trastuzumab, lapatinib, or pertuzumab may include: - Heart problems such as heart failure. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. Follow-up tests may be needed. Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Treatment Options for Breast Cancer Early, Localized, or Operable Breast Cancer Treatment of early, localized, or operable breast cancer may include the following: Surgery - Breast-conserving surgery and sentinel lymph node biopsy. If cancer is found in the lymph nodes, a lymph node dissection may be done. - Modified radical mastectomy. Breast reconstruction surgery may also be done. Postoperative radiation therapy For women who had breast-conserving surgery, radiation therapy is given to the whole breast to lessen the chance the cancer will come back. Radiation therapy may also be given to lymph nodes in the area. For women who had a modified radical mastectomy, radiation therapy may be given to lessen the chance the cancer will come back if any of the following are true: - Cancer was found in 4 or more lymph nodes. - Cancer had spread to tissue around the lymph nodes. - The tumor was large. - There is tumor close to or remaining in the tissue near the edges of where the tumor was removed. Postoperative systemic therapy Systemic therapy is the use of drugs that can enter the bloodstream and reach cancer cells throughout the body. Postoperative systemic therapy is given to lessen the chance the cancer will come back after surgery to remove the tumor. Postoperative systemic therapy is given depending on whether: - The tumor is hormone receptor negative or positive. - The tumor is HER2/neu negative or positive. - The tumor is hormone receptor negative and HER2/neu negative (triple negative). - The size of the tumor. In premenopausal women with hormone receptor positive tumors, no more treatment may be needed or postoperative therapy may include: - Tamoxifen therapy with or without chemotherapy. - Tamoxifen therapy and treatment to stop or lessen how much estrogen is made by the ovaries. Drug therapy, surgery to remove the ovaries, or radiation therapy to the ovaries may be used. - Aromatase inhibitor therapy and treatment to stop or lessen how much estrogen is made by the ovaries. Drug therapy, surgery to remove the ovaries, or radiation therapy to the ovaries may be used. In postmenopausal women with hormone receptor positive tumors, no more treatment may be needed or postoperative therapy may include: - Aromatase inhibitor therapy with or without chemotherapy. - Tamoxifen followed by aromatase inhibitor therapy, with or without chemotherapy. In women with hormone receptor negative tumors, no more treatment may be needed or postoperative therapy may include: - Chemotherapy. In women with HER2/neu negative tumors, postoperative therapy may include: - Chemotherapy. In women with small, HER2/neu positive tumors, and no cancer in the lymph nodes, no more treatment may be needed. If there is cancer in the lymph nodes, or the tumor is large, postoperative therapy may include: - Chemotherapy and targeted therapy (trastuzumab). - Hormone therapy, such as tamoxifen or aromatase inhibitor therapy, for tumors that are also hormone receptor positive. In women with small, hormone receptor negative and HER2/neu negative tumors (triple negative) and no cancer in the lymph nodes, no more treatment may be needed. If there is cancer in the lymph nodes or the tumor is large, postoperative therapy may include: - Chemotherapy. - Radiation therapy. - A clinical trial of a new chemotherapy regimen. - A clinical trial of PARP inhibitor therapy. Preoperative systemic therapy Systemic therapy is the use of drugs that can enter the bloodstream and reach cancer cells throughout the body. Preoperative systemic therapy is given to shrink the tumor before surgery. In postmenopausal women with hormone receptor positive tumors, preoperative therapy may include: - Chemotherapy. - Hormone therapy, such as tamoxifen or aromatase inhibitor therapy, for women who cannot have chemotherapy. In premenopausal women with hormone receptor positive tumors, preoperative therapy may include: - A clinical trial of hormone therapy, such as tamoxifen or aromatase inhibitor therapy. In women with HER2/neu positive tumors, preoperative therapy may include: - Chemotherapy and targeted therapy (trastuzumab). - Targeted therapy (pertuzumab). In women with HER2/neu negative tumors or triple negative tumors, preoperative therapy may include: - Chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I breast cancer, stage II breast cancer, stage IIIA breast cancer and stage IIIC breast cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Locally Advanced or Inflammatory Breast Cancer Treatment of locally advanced or inflammatory breast cancer is a combination of therapies that may include the following: - Surgery (breast-conserving surgery or total mastectomy) with lymph node dissection. - Chemotherapy before and/or after surgery. - Radiation therapy after surgery. - Hormone therapy after surgery for tumors that are estrogen receptor positive or estrogen receptor unknown. - Clinical trials testing new anticancer drugs, new drug combinations, and new ways of giving treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IIIB breast cancer, stage IIIC breast cancer, stage IV breast cancer and inflammatory breast cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Locoregional Recurrent Breast Cancer Treatment of locoregional recurrent breast cancer (cancer that has come back after treatment in the breast, in the chest wall, or in nearby lymph nodes), may include the following: - Chemotherapy. - Hormone therapy for tumors that are hormone receptor positive. - Radiation therapy. - Surgery. - Targeted therapy (trastuzumab). - A clinical trial of a new treatment. See the Metastatic Breast Cancer section for information about treatment options for breast cancer that has spread to parts of the body outside the breast, chest wall, or nearby lymph nodes. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent breast cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Metastatic Breast Cancer Treatment options for metastatic breast cancer (cancer that has spread to distant parts of the body) may include the following: Hormone therapy In postmenopausal women who have just been diagnosed with metastatic breast cancer that is hormone receptor positive or if the hormone receptor status is not known, treatment may include: - Tamoxifen therapy. - Aromatase inhibitor therapy (anastrozole, letrozole, or exemestane). Sometimes cyclin-dependent kinase inhibitor therapy (palbociclib) is also given. In premenopausal women who have just been diagnosed with metastatic breast cancer that is hormone receptor positive, treatment may include: - Tamoxifen, an LHRH agonist, or both. In women whose tumors are hormone receptor positive or hormone receptor unknown, with spread to the bone or soft tissue only, and who have been treated with tamoxifen, treatment may include: - Aromatase inhibitor therapy. - Other hormone therapy such as megestrol acetate, estrogen or androgen therapy, or anti-estrogen therapy such as fulvestrant. Targeted therapy In women with metastatic breast cancer that is hormone receptor positive and has not responded to other treatments, options may include targeted therapy such as: - Trastuzumab, lapatinib, pertuzumab, or mTOR inhibitors. - Antibody-drug conjugate therapy with ado-trastuzumab emtansine. - Cyclin-dependent kinase inhibitor therapy (palbociclib) combined with letrozole. In women with metastatic breast cancer that is HER2/neu positive, treatment may include: - Targeted therapy such as trastuzumab, pertuzumab, ado-trastuzumab emtansine, or lapatinib. Chemotherapy In women with metastatic breast cancer that is hormone receptor negative, has not responded to hormone therapy, has spread to other organs or has caused symptoms, treatment may include: - Chemotherapy with one or more drugs. Surgery - Total mastectomy for women with open or painful breast lesions. Radiation therapy may be given after surgery. - Surgery to remove cancer that has spread to the brain or spine. Radiation therapy may be given after surgery. - Surgery to remove cancer that has spread to the lung. - Surgery to repair or help support weak or broken bones. Radiation therapy may be given after surgery. - Surgery to remove fluid that has collected around the lungs or heart. Radiation therapy - Radiation therapy to the bones, brain, spinal cord, breast, or chest wall to relieve symptoms and improve quality of life. - Strontium-89 (a radionuclide) to relieve pain from cancer that has spread to bones throughout the body. Other treatment options Other treatment options for metastatic breast cancer include: - Drug therapy with bisphosphonates or denosumab to reduce bone disease and pain when cancer has spread to the bone. (See the PDQ summary on Cancer Pain for more information about bisphosphonates.) - A clinical trial of high-dose chemotherapy with stem cell transplant. - Clinical trials testing new anticancer drugs, new drug combinations, and new ways of giving treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with metastatic cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",31360 Does partial shoot reiteration in Wollemia nobilis ( Araucariaceae ) arise from 'axillary meristems '?,Axillary meristems in Wollemia characterize the leaf axils of trunk axes so that the origin of reiterated shoots is clear. Plagiotropic axes seemingly lack axillary meristems but still produce axillary branches by distinctive developmental processes. These observations demonstrate limited understanding of branch initiation in trees generally.,31361 How to diagnose Parasites - Echinococcosis ?,"The presence of a cyst-like mass in a person with a history of exposure to sheepdogs in an area where E. granulosus is endemic suggests a diagnosis of cystic echinococcosis. Imaging techniques, such as CT scans, ultrasonography, and MRIs, are used to detect cysts. After a cyst has been detected, serologic tests may be used to confirm the diagnosis. Alveolar echinococcosis is typically found in older people. Imaging techniques such as CT scans are used to visually confirm the parasitic vesicles and cyst-like structures and serologic tests can confirm the parasitic infection.",31362 Is overexpression of runt-related transcription factor-2 associated with advanced tumor progression and poor prognosis in epithelial ovarian cancer?,Our data suggest for the first time that RUNX2 overexpression is associated with advanced tumor progression and poor clinical outcome of EOC patients. RUNX2 might be a novel prognostic marker of EOC.,31363 Does sphingosine 1-phosphate receptor 5 mediate the immune quiescence of the human brain endothelial barrier?,Our findings demonstrate that S1P5 in brain ECs contributes to optimal barrier formation and maintenance of immune quiescence of the barrier endothelium.,31364 What are the symptoms of Salivary Gland Cancer ?,"Signs of salivary gland cancer include a lump or trouble swallowing. Salivary gland cancer may not cause any symptoms. It may be found during a regular dental check-up or physical exam. Signs and symptoms may be caused by salivary gland cancer or by other conditions. Check with your doctor if you have any of the following: - A lump (usually painless) in the area of the ear, cheek, jaw, lip, or inside the mouth. - Fluid draining from the ear. - Trouble swallowing or opening the mouth widely. - Numbness or weakness in the face. - Pain in the face that does not go away.",31365 Does remote magnetic navigation system provide a superior catheter stability in acquisition of His bundle electrogram?,His-electrogram recording using RMNS is more stable and homogeneous than traditional manual method in most patients. These data indicate a superior catheter stability with RMNS.,31366 Does cerebral perfusion correlate of conversion to Alzheimer 's disease in amnestic mild cognitive impairment?,Parahippocampal and inferior temporal hypoperfusion in amnestic MCI patients appears as a correlate of conversion to AD; hypoperfusion in the retrosplenial cortex is involved in memory impairment but does not seem the key prognostic indicator of conversion to dementia.,31367 "Are expression of p16 ( INK4A ) , p53 , and Rb proteins independent from the presence of human papillomavirus genes in oral squamous cell carcinoma?","A tumor immunophenotype, similar to HPV-related anogenital cancers, is not present in OSCC and highly oncogenic HPV types are therefore unlikely to be specific or independent risk factors for oral cancer.",31368 Does peripheral Nerve Ultrasound Imaging show Enlargement of Peripheral Nerves Outside the Brachial Plexus in Neuralgic Amyotrophy?,"These cases confirm that the site of nerve inflammation may lie outside the brachial plexus, keeping with previous reports, and suggests that peripheral nerve ultrasound imaging might aid in the diagnosis of neuralgic amyotrophy and exclude mimicking conditions.",31369 Is Diamond-Blackfan anemia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 45 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",31370 Does iL-4 production by group 2 innate lymphoid cells promote food allergy by blocking regulatory T-cell function?,IL-4 production by IL-33-stimulated ILC2s blocks the generation of allergen-specific Treg cells and favors food allergy. Strategies to block ILC2 activation or the IL-33/IL-33 receptor pathway can lead to innovative therapies in the treatment of food allergy.,31371 Does neuroinflammation induce glial aromatase expression in the uninjured songbird brain?,These studies are among the first to examine a neuroinflammatory response in the songbird brain following mechanical brain injury and to describe a novel neuroimmune signal to initiate aromatase expression in glia.,31372 Is congenital myasthenic syndrome inherited ?,"This condition is most commonly inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Rarely, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",31373 Does shift climate profiles and correlate in acute psychiatric inpatient units?,"The day-to-day social-emotional climate can have important consequences for patient engagement and recovery. Improved understanding of the role played by unit, staff and patient characteristics, together with routine monitoring, should facilitate the development and evaluation of targeted interventions to reduce adverse incidents and improve the overall social-emotional climate.",31374 Is eccrine angiomatous hamartoma a lymphatic proliferation?,EAH is a lymphatic proliferation and therefore we suggest the name of eccrine lymphangiomatous hamartoma.,31375 Are endothelial progenitor cells associated with response to chemotherapy in human non-small-cell lung cancer?,Peripheral blood levels of bone marrow-derived EPCs are significantly increased in patients with NSCLC and correlate with response to chemotherapy. EPCs may offer a possible biomarker for efficient of treatment and prognosis.,31376 Are associations between self-reported quality of care and county characteristics largely similar in rural and urban settings?,"Despite rural/urban differences in contextual characteristics with potential influence on health care delivery, overall consumer perception of health care quality was similar in both settings. This suggests that health care managers may be adopting setting-specific strategies to enhance consumer satisfaction despite contextual differences.",31377 What are the genetic changes related to Milroy disease ?,"Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, movement, and survival of cells that line the lymphatic vessels (lymphatic endothelial cells). These mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly transported, it builds up in the body's tissues and causes lymphedema. It is not known how mutations in the FLT4 gene lead to the other features of this disorder. Many individuals with Milroy disease do not have a mutation in the FLT4 gene. In these individuals, the cause of the disorder is unknown.",31378 What is (are) Teenage Pregnancy ?,"Most teenage girls don't plan to get pregnant, but many do. Teen pregnancies carry extra health risks to both the mother and the baby. Often, teens don't get prenatal care soon enough, which can lead to problems later on. They have a higher risk for pregnancy-related high blood pressure and its complications. Risks for the baby include premature birth and a low birth weight. If you're a pregnant teen, you can help yourself and your baby by - Getting regular prenatal care - Taking your prenatal vitamins for your health and to prevent some birth defects - Avoiding smoking, alcohol, and drugs - Using a condom, if you are having sex, to prevent sexually transmitted diseases that could hurt your baby",31379 Do you have information about Disaster Preparation and Recovery,"Summary : Preparing for a disaster can reduce the fear, anxiety and losses that disasters cause. A disaster can be a natural disaster, like a hurricane, tornado, flood or earthquake. It might also be man-made, like a bioterrorist attack or chemical spill. You should know the risks and danger signs of different types of disasters. You should also have a disaster plan. Be ready to evacuate your home, and know how to treat basic medical problems. Make sure you have the insurance you need, including special types, like flood insurance. No matter what kind of disaster you experience, it causes emotional distress. After a disaster, recovery can take time. Stay connected to your family and friends during this period. Federal Emergency Management Agency",31380 What are the treatments for Kidney Stones in Children ?,"The treatment for a kidney stone usually depends on its size and what it is made of, as well as whether it is causing symptoms of pain or obstructing the urinary tract. Small stones usually pass through the urinary tract without treatment. Still, children will often require pain control and encouragement to drink lots of fluids to help move the stone along. Pain control may consist of oral or intravenous (IV) medication, depending on the duration and severity of the pain. IV fluids may be needed if the child becomes dehydrated from vomiting or an inability to drink. A child with a larger stone, or one that blocks urine flow and causes great pain, may need to be hospitalized for more urgent treatment. Hospital treatments may include the following:",31381 Does efficacy of lodoxamide eye drop on mast cells and eosinophils after allergen challenge in allergic conjunctivitis?,Lodoxamide is effective in reducing tryptase levels and the recruitment of inflammatory cells in the tear fluid after allergen challenge.,31382 Does leptin promote fibroproliferative acute respiratory distress syndrome by inhibiting peroxisome proliferator-activated receptor-γ?,Leptin signaling is required for bleomycin-induced lung fibrosis. Leptin augments TGF-β(1) signaling in lung fibroblasts by inhibiting PPARγ. These findings provide a mechanism for the observed protection against ARDS observed in diabetic patients.,31383 Does autonomic response to standardized stress predict subsequent disease activity in ulcerative colitis?,An atypical pattern of autonomic reactivity may be a marker of individual differences in stress regulation that has prognostic significance in ulcerative colitis.,31384 what research (or clinical trials) is being done for Schilder's Disease ?,"The NINDS supports and conducts an extensive research program on demyelinating disorders such as Schilder's disease. Much of this research focuses on learning more about these disorders and finding ways to prevent, treat, and cure them.",31385 How to prevent Polycystic Kidney Disease ?,"Scientists have not yet found a way to prevent PKD. However, people with PKD may slow the progression of kidney damage caused by high blood pressure through lifestyle changes, diet, and blood pressure medications. People with PKD should be physically active 30 minutes a day most days of the week. See Eating, Diet, and Nutrition for diet advice on lowering blood pressure and slowing the progression of kidney disease in general. If lifestyle and diet changes do not control a persons blood pressure, a health care provider may prescribe one or more blood pressure medications, including ACE inhibitors or ARBs.",31386 What are the treatments for cerebrotendinous xanthomatosis ?,These resources address the diagnosis or management of cerebrotendinous xanthomatosis: - Gene Review: Gene Review: Cerebrotendinous Xanthomatosis - Genetic Testing Registry: Cholestanol storage disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,31387 What are the symptoms of Congenital mirror movement disorder ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital mirror movement disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Incomplete penetrance 50% Autosomal dominant inheritance - Bimanual synkinesia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31388 Does the presence of an ossific nucleus protect against osteonecrosis after treatment of developmental dysplasia of the hip?,Patients with an ossific nucleus at the time of hip reduction showed a slight tendency toward better outcomes. The ossific nucleus did not protect for ON.,31389 What is (are) Glycogen storage disease type 13 ?,"Glycogen storage disease type 13 (GSD13), also known as -enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive pattern.",31390 Is sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels modified by BMI?,Genetic variants within SLC2A9 have significant effects on uric acid levels and are modified by sex and BMI.,31391 How to diagnose Froelich syndrome ?,"Diagnosis of Froelich syndrome may be difficult and requires cautious and thoughtful clinical examination, testing urine for low levels of pituitary hormones, and likely other additional tests before a definitive diagnosis of Froehlich syndrome can be made.",31392 Does quercetin inhibit the invasion of murine melanoma B16-BL6 cells by decreasing pro-MMP-9 via the PKC pathway?,"Together with the report that quercetin directly reduces PKC activity, the results reported here suggest that quercetin may inhibit the invasion of B16-BL6 cells by decreasing pro-MMP-9 via the PKC pathway.",31393 What are the symptoms of Asthma ?,"Common signs and symptoms of asthma include: Coughing. Coughing from asthma often is worse at night or early in the morning, making it hard to sleep. Wheezing. Wheezing is a whistling or squeaky sound that occurs when you breathe. Chest tightness. This may feel like something is squeezing or sitting on your chest. Shortness of breath. Some people who have asthma say they can't catch their breath or they feel out of breath. You may feel like you can't get air out of your lungs. Not all people who have asthma have these symptoms. Likewise, having these symptoms doesn't always mean that you have asthma. The best way to diagnose asthma for certain is to use a lung function test, a medical history (including type and frequency of symptoms), and a physical exam. The types of asthma symptoms you have, how often they occur, and how severe they are may vary over time. Sometimes your symptoms may just annoy you. Other times, they may be troublesome enough to limit your daily routine. Severe symptoms can be fatal. It's important to treat symptoms when you first notice them so they don't become severe. With proper treatment, most people who have asthma can expect to have few, if any, symptoms either during the day or at night. What Causes Asthma Symptoms To Occur? Many things can trigger or worsen asthma symptoms. Your doctor will help you find out which things (sometimes called triggers) may cause your asthma to flare up if you come in contact with them. Triggers may include: Allergens from dust, animal fur, cockroaches, mold, and pollens from trees, grasses, and flowers Irritants such as cigarette smoke, air pollution, chemicals or dust in the workplace, compounds in home dcor products, and sprays (such as hairspray) Medicines such as aspirin or other nonsteroidal anti-inflammatory drugs and nonselective beta-blockers Sulfites in foods and drinks Viral upper respiratory infections, such as colds Physical activity, including exercise Other health conditions can make asthma harder to manage. Examples of these conditions include a runny nose, sinus infections, reflux disease, psychological stress, and sleep apnea. These conditions need treatment as part of an overall asthma care plan. Asthma is different for each person. Some of the triggers listed above may not affect you. Other triggers that do affect you may not be on the list. Talk with your doctor about the things that seem to make your asthma worse.",31394 Are inflammasome Proteins in Cerebrospinal Fluid of Patients with Subarachnoid Hemorrhage Biomarkers of Early Brain Injury and Functional Outcome?,Inflammasome proteins are potential biomarkers to assess early brain injury and to predict functional outcome after SAH.,31395 Does coculture between periosteal explants and articular chondrocytes induce expression of TGF-beta1 and collagen I?,"We found evidence for a bidirectional regulating system with paracrine signalling pathways between periosteum and articular chondrocytes. Stimulation of TGF-beta1 and COL1A1 gene expression in periosteal paracrine cocultures and the increased release of TGF-beta1 protein in physical contact conditions indicate an anabolic, and not merely chondrogenic micro-environment in this in vitro model for periosteal-based ACI.",31396 What are the genetic changes related to benign chronic pemphigus ?,"Benign chronic pemphigus results from mutations in the ATP2C1 gene. This gene provides instructions for producing a protein called hSPCA1, which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell growth and division and helping cells stick to one another (cell adhesion). The hSPCA1 protein appears to be particularly important for the normal function of cells called keratinocytes, which are found in the outer layer of the skin (the epidermis). Mutations in the ATP2C1 gene reduce the amount of functional hSPCA1 protein in cells. This abnormality impairs cells' ability to store calcium normally. For unknown reasons, this abnormal calcium storage affects keratinocytes more than other types of cells. The abnormal regulation of calcium impairs many cell functions, including cell adhesion. As a result, keratinocytes do not stick tightly to one another, which causes the epidermis to become fragile and less resistant to minor trauma. Because the skin is easily damaged, it develops raw, blistered areas, particularly in skin folds where there is moisture and friction.",31397 Is pre-fracture nutritional status predictive of functional status at discharge during the acute phase with hip fracture patients : A multicenter prospective cohort study?,"Pre-fracture nutritional status was a significant independent predictor for functional status at discharge during the acute phase, warranting early assessment of nutritional status and early intervention for successful postoperative rehabilitation.",31398 What are the symptoms of Lipoic acid synthetase deficiency ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoic acid synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apnea - Autosomal recessive inheritance - Encephalopathy - Feeding difficulties - Flexion contracture - Growth delay - Hypertrophic cardiomyopathy - Increased serum lactate - Lactic acidosis - Microcephaly - Motor delay - Muscular hypotonia - Respiratory insufficiency - Seizures - Severe global developmental delay - Sleep disturbance - Spastic tetraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",31399 What is (are) Cerebellar degeneration ?,"Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.",31400 Does phytochemical capacity of Nitraria retusa leave extracts inhibiting growth of melanoma cells and enhancing melanogenesis of B16F10 melanoma?,The tested extracts have a significant biological effect which may be due to their bioactive compounds.,31401 Does test order of quantitative sensory testing facilitate mechanical hyperalgesia in healthy volunteers?,Present data showed that mechanical hyperalgesia followed thermal testing. This article demonstrates that the test order of quantitative sensory testing is relevant in interpreting the results obtained. Reference values are suitable in the test order from which they are obtained.,31402 What is (are) Rashes ?,"A rash is an area of irritated or swollen skin. Many rashes are itchy, red, painful, and irritated. Some rashes can also lead to blisters or patches of raw skin. Rashes are a symptom of many different medical problems. Other causes include irritating substances and allergies. Certain genes can make people more likely to get rashes. Contact dermatitis is a common type of rash. It causes redness, itching, and sometimes small bumps. You get the rash where you have touched an irritant, such as a chemical, or something you are allergic to, like poison ivy. Some rashes develop right away. Others form over several days. Although most rashes clear up fairly quickly, others are long-lasting and need long-term treatment. Because rashes can be caused by many different things, it's important to figure out what kind you have before you treat it. If it is a bad rash, if it does not go away, or if you have other symptoms, you should see your health care provider. Treatments may include moisturizers, lotions, baths, cortisone creams that relieve swelling, and antihistamines, which relieve itching.",31403 What is the outlook for Syringomyelia ?,"Symptoms usually begin in young adulthood, with symptoms of one form usually beginning between the ages of 25 and 40. If not treated surgically (when needed), syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. Symptoms may worsen with straining or any activity that causes cerebrospinal fluid pressure to fluctuate. Some individuals may have long periods of stability. Surgery results in stabilization or modest improvement in symptoms for most individuals. Delay in treatment may result in irreversible spinal cord injury.",31404 What is (are) Liddle syndrome ?,"Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium levels (hypokalemia) such as weakness, fatigue, muscle pain (myalgia), constipation or palpitations. It is caused by mutations in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. Treatment may include a low sodium diet and potassium-sparing diuretics to reduce blood pressure and normalize potassium levels. Conventional anti-hypertensive therapies are not effective.",31405 Are blood fibrocytes recruited during acute exacerbations of chronic obstructive pulmonary disease through a CXCR4-dependent pathway?,Blood fibrocytes are recruited during COPD exacerbations and related to mortality and low lung function. The CXCL12/CXCR4 axis is involved in such fibrocyte recruitment (Firebrob study; ClinicalTrials NCT01196832).,31406