diff --git "a/combined_val.csv" "b/combined_val.csv" --- "a/combined_val.csv" +++ "b/combined_val.csv" @@ -1,15 +1,15 @@ 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 ?,"What are the signs and 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 +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 ?,"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 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 ?","What are the signs and 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 ?,"What are the signs and 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 +"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 @@ -34,7 +34,7 @@ Are obstructive sleep apnea and obesity associated with reduced GPR 120 plasma l 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 ?","How might craniometaphyseal dysplasia be treated? 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 +"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 @@ -80,7 +80,7 @@ Does low dose resveratrol improve cerebrovascular function in type 2 diabetes me 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 ?,"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 +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. @@ -138,8 +138,8 @@ What is the outlook for Neuroleptic Malignant Syndrome ?,"Early identification o 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 ?,"What are the signs and 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 ?,"Is genetic testing available for 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 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. @@ -194,7 +194,7 @@ Do technical player profiles related to the physical fitness of young female vol 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 ?","What are the signs and 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 +"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 @@ -251,7 +251,7 @@ People who have secondary thrombocytosis usually don't need platelet-lowering me 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 ?,"What are the signs and 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 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 @@ -265,7 +265,7 @@ For a clearance test, you will collect the used dialysis solution from a 24-hour 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 ?,"What are the signs and 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 +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 @@ -281,12 +281,12 @@ Is alpha thalassemia inherited ?,"The inheritance of alpha thalassemia is comple 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 ?,"How is Freiberg's disease diagnosed? 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 +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 ?,"What are the signs and 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 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 @@ -295,10 +295,10 @@ Do fishery-independent data reveal negative effect of human population density o 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 ?,"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 +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 ?,"How might cholesteatoma be treated? 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 +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. @@ -336,13 +336,13 @@ What are the treatments for Hypertonia ?,"Muscle relaxing drugs such as baclofen 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 ?,"What are the signs and 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 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 ?,"What are the signs and 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 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 @@ -365,7 +365,7 @@ What are the genetic changes related to Nijmegen breakage syndrome ?,"Mutations 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 ?,"What are the signs and 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 +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 @@ -373,13 +373,13 @@ What are the genetic changes related to coloboma ?,"Coloboma arises from abnorma 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 ?,"What are the signs and 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) ?,"What treatment is available for benign rolandic epilepsy? Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine.",30970 +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 ?,"What are the signs and 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 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. @@ -482,7 +482,7 @@ Genetic testing can show how the disease runs in families. It also can find out 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 ?,"How might tumor necrosis factor receptor-associated periodic syndrome (TRAPS) be treated? 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 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. @@ -500,7 +500,7 @@ Does implications of post-gadolinium MRI result in 13 cases with posterior rever 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 ?,"What are the signs and 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 +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 @@ -514,13 +514,13 @@ what research (or clinical trials) is being done for Childhood Acute Myeloid Leu 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 ?,"How might cerebellar degeneration be treated? 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 +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 ?,"What are the signs and 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 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. @@ -530,14 +530,14 @@ More information is provided in the NIDDK health topics, solitary kidney, dialys 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 ?,"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 +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 ?,"What are the signs and 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 +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 @@ -555,7 +555,7 @@ Inheriting two faulty HFE genes (one from each parent) is the major risk factor 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 ?","How might periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis be treated? Treatment options that have been successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine.",31029 +"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 @@ -570,19 +570,19 @@ What is (are) Guanidinoacetate methyltransferase deficiency ?,"Guanidinoacetate 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 ?,"What are the signs and 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 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 ?,"What are the signs and 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 +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 ?,"What are the signs and 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 +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 @@ -590,7 +590,7 @@ Who is at risk for Sexual and Urologic Problems of Diabetes? ?,"Risk factors are - 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 ?,"How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? 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 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 @@ -617,13 +617,13 @@ What is (are) Endometrial Cancer ?,"Key Points 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 ?,"What treatment might be available 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 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 ?,"What are the signs and 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 +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. @@ -639,14 +639,14 @@ Does doc2b enrichment enhance glucose homeostasis in mice via potentiation of in 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 ?,"How might type 1 plasminogen deficiency be treated? 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 +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 ?","What are the signs and 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 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 @@ -754,7 +754,7 @@ Better treatments now allow people who have moderate and severe thalassemias to 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 ?,"What are the signs and 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 +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: @@ -791,8 +791,8 @@ What are the treatments for Stickler syndrome ?,"These resources address the dia 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 ?,"How is relapsing polychondritis diagnosed? 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 ?,"What are the signs and 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 +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 @@ -805,12 +805,12 @@ What are the treatments for Fecal Incontinence ?,"Treatment for fecal incontinen - 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 ?,"What are the signs and 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 +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 ?,"How 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 +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 @@ -827,7 +827,7 @@ As blood passes through healthy kidneys, they filter out the waste products and 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 ?,"What are the signs and 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 +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 @@ -846,7 +846,7 @@ Does total body ABCG1 expression protect against early atherosclerotic lesion de 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 ?,"What are the signs and 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 +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 @@ -854,10 +854,10 @@ Does cholecystokinin octapeptide inhibit the in vitro expression of CD14 in rat 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 ?,"How might congenital dyserythropoietic anemia (CDA) type 2 be treated? 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 +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 ?","What are the signs and 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 +"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 @@ -882,8 +882,8 @@ How to prevent Liver (Hepatocellular) Cancer ?,"Key Points 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 ?,"How might chronic progressive external ophthalmoplegia be treated? 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 ?,"How is hereditary 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 +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 @@ -903,27 +903,27 @@ Polycystic kidney disease exists around the world and in all races. The disorder 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 ?,"How might Bethlem myopathy be treated? 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 +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 ?,"What are the signs and 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 +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 ?,"What are the signs and 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 +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?,"On this Page General Information about VISA/VRSA 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 +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 ?,"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 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. @@ -934,9 +934,9 @@ Does hyperbaric oxygen therapy provide neuroprotection following spinal cord inj 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 ?,"What are the signs and 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 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 ?,"What are the signs and 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 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 @@ -945,8 +945,8 @@ Is common variation in the SERPING1 gene associated with age-related macular deg 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 ?,"What are the signs and 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 ?,"What are the symptoms of La Crosse (LAC) 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 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 @@ -963,7 +963,7 @@ Although gestational diabetes usually goes away after the baby is born, a woman 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 ?,"What are the signs and 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 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 @@ -973,15 +973,15 @@ How many people are affected by rippling muscle disease ?,The prevalence of ripp 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 ?","What are the signs and 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 +"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 ?,"How might Kyrle disease be treated? 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 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 ?,"What causes familial or genetic 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 +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. @@ -1054,7 +1054,7 @@ What are the treatments for Hypopharyngeal Cancer ?,"Key Points 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 ?,"How might linear porokeratosis be treated? 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 +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 @@ -1065,7 +1065,7 @@ Is spastic paraplegia type 8 inherited ?,"Spastic paraplegia type 8 is inherited 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 ?","If my daughter inherits BPES from me, will she definitely have the same type as me, or could she have the other type? 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 +"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 @@ -1080,7 +1080,7 @@ Is hepatic encephalopathy in rats with thioacetamide-induced acute liver failure 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 ?,"What are the signs and 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 +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 @@ -1116,13 +1116,13 @@ A commercial vaccine has been recently licensed in Australia for horses and coul 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 ?,"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 +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 ?,"What are the signs and 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 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 @@ -1136,12 +1136,12 @@ Over time, the condition can cause malnutrition, bacterial overgrowth in the int 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 ?,How might Waterhouse-Friderichsen syndrome be treated? Treatment may include antibiotics and glucocorticoids. Other treatment is symptomatic and supportive.,31326 +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 ?,"How 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 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 @@ -1158,13 +1158,13 @@ What are the genetic changes related to VLDLR-associated cerebellar hypoplasia ? 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 ?,"How 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 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 ?,"What are the signs and 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 +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 @@ -1248,11 +1248,11 @@ Does autonomic response to standardized stress predict subsequent disease activi 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 ?,"What are the signs and 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 +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 ?,"How might Froelich syndrome be diagnosed? 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 +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: @@ -1295,7 +1295,7 @@ Are inflammasome Proteins in Cerebrospinal Fluid of Patients with Subarachnoid H 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 ?,"What are the signs and 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 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