input stringclasses 1
value | output stringlengths 66 19.2k | instruction stringlengths 18 99 |
|---|---|---|
What are the signs and symptoms of BrookeSpiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BrookeSpiegler 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 Medic... | What are the symptoms of Brooke-Spiegler syndrome ? | |
What causes of accessory navicular bone? The cause of accessory navicular bone is unknown. In some cases, the condition may be related to the development of flatfoot also known as pes planus, in other cases it may be related to repeated foot and ankle sprains. | What causes Accessory navicular bone ? | |
The causes are probably different for different types of diabetic neuropathy. Researchers are studying how prolonged exposure to high blood glucose causes nerve damage. Nerve damage is likely due to a combination of factors: metabolic factors, such as high blood glucose, long duration of diabetes, abnormal blood fat l... | What causes Diabetic Neuropathies: The Nerve Damage of Diabetes ? | |
Asthma is a longterm disease that has no cure. The goal of asthma treatment is to control the disease. Good asthma control will: Prevent chronic and troublesome symptoms, such as coughing and shortness of breath Reduce your need for quickrelief medicines (see below) Help you maintain good lung function Let you maintain... | What are the treatments for Asthma ? | |
Most individuals with RMDs recover completely and can avoid reinjury by changing the way they perform repetitive movements, the frequency with which they perform them, and the amount of time they rest between movements. Without treatment, RMDs may result in permanent injury and complete loss of function in the affected... | What is the outlook for Repetitive Motion Disorders ? | |
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and postnatal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs an... | What is (are) Microcephalic osteodysplastic primordial dwarfism type 1 ? | |
What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. 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 D... | What are the symptoms of Spastic paraplegia 16 ? | |
Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition in... | What is (are) Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? | |
Treatment of chronic neutrophilic leukemia may include the following: Donor bone marrow transplant. Chemotherapy. Biologic therapy using interferon alfa. A clinical trial of a new treatment. Check the list of NCIsupported cancer clinical trials that are now accepting patients with chronic neutrophilic leukemia. For... | What are the treatments for Chronic Neutrophilic Leukemia ? | |
Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide. | How many people are affected by chylomicron retention disease ? | |
Exstrophyepispadias complex (EEC) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. The defect occurs due to a rupture of a feta... | What is (are) Exstrophy-epispadias complex ? | |
Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. Other preventio... | what research (or clinical trials) is being done for Oral Cavity and Oropharyngeal Cancer ? | |
Steps can be taken to reduce the risk for babesiosis and other tickborne infections. The use of prevention measures is especially important for people at increased risk for severe babesiosis (for example, people who do not have a spleen). Avoiding exposure to tick habitats is the best defense. Babesia microti is spread... | How to prevent Parasites - Babesiosis ? | |
MelkerssonRosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in betw... | What is (are) Melkersson-Rosenthal Syndrome ? | |
What are the signs and symptoms of Neuroferritinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroferritinopathy. 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 Dicti... | What are the symptoms of Neuroferritinopathy ? | |
These resources address the diagnosis or management of purine nucleoside phosphorylase deficiency: Baby's First Test: Severe Combined Immunodeficiency Genetic Testing Registry: Purinenucleoside phosphorylase deficiency National Marrow Donor Program These resources from MedlinePlus offer information about the diagnos... | What are the treatments for purine nucleoside phosphorylase deficiency ? | |
Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. Thi... | What is (are) Hereditary angioedema ? | |
Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). They can have movement proble... | What is (are) aminoacylase 1 deficiency ? | |
What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | What are the symptoms of Brachycephalofrontonasal dysplasia ? | |
Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For unknown reasons, this disorder occurs more than twice as often in males than in females. Poland syndrome may be underdiagnosed because mild cases without hand involvement may never come to medical attention. | How many people are affected by Poland syndrome ? | |
These resources address the diagnosis or management of congenital insensitivity to pain: Genetic Testing Registry: Indifference to pain, congenital, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: Diagnostic Tests Drug Therapy S... | What are the treatments for congenital insensitivity to pain ? | |
What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. 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 D... | What are the symptoms of Spastic paraplegia 16 ? | |
COPD is a disease that slowly worsens over time, especially if you continue to smoke. If you have COPD, you are more likely to have lung infections, which can be fatal. If the lungs are severely damaged, the heart may be affected. A person with COPD dies when the lungs and heart are unable to function and get oxygen to... | What causes COPD ? | |
These resources address the diagnosis or management of bradyopsia: Children's Hospital of Pittsburgh: Electroretinogram Genetic Testing Registry: Prolonged electroretinal response suppression MedlinePlus Encyclopedia: Electroretinography Prevent Blindness: Living Well with Low Vision These resources from MedlinePlu... | What are the treatments for bradyopsia ? | |
ZAP70related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, a... | What is (are) ZAP70-related severe combined immunodeficiency ? | |
After an incubation period of 38 days, the symptoms of OHF begin suddenly with chills, fever, headache, and severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems occurring 34 days after initial symptom onset. Patients may experience abnormally low blood pressure and low platelet, red blood c... | What are the symptoms of Omsk Hemorrhagic Fever (OHF) ? | |
Myasthenia gravis is disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles... | What is (are) Myasthenia Gravis ? | |
Primary ciliary dyskinesia can result from mutations in many different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs an... | What are the genetic changes related to primary ciliary dyskinesia ? | |
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. | Is infantile neuronal ceroid lipofuscinosis inherited ? | |
These resources address the diagnosis or management of Miller syndrome: Genetic Testing Registry: Miller 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 Palliati... | What are the treatments for Miller syndrome ? | |
These resources address the diagnosis or management of Cowden syndrome: Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) Genetic Testing Registry: Cowden syndrome Genetic Testing Registry: Cowden syndrome 1 Genetic Testing Registry: Cowden syndrome 2 National Cancer Institute: Genetic Testing for Her... | What are the treatments for Cowden syndrome ? | |
Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. Thi... | What is (are) Hereditary angioedema ? | |
What are the signs and symptoms of Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | What are the symptoms of Immune defect due to absence of thymus ? | |
The cause of most adult brain and spinal cord tumors is not known. | What causes Adult Central Nervous System Tumors ? | |
What causes of accessory navicular bone? The cause of accessory navicular bone is unknown. In some cases, the condition may be related to the development of flatfoot also known as pes planus, in other cases it may be related to repeated foot and ankle sprains. | What causes Accessory navicular bone ? | |
There are different types of treatment for patients with oropharyngeal cancer. Patients with oropharyngeal cancer should have their treatment planned by a team of doctors with expertise in treating head and neck cancer. Four types of standard treatment are used: Surgery Radiation therapy Chemotherapy Targeted t... | What are the treatments for Oropharyngeal Cancer ? | |
What are the signs and symptoms of Duane syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane 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 D... | What are the symptoms of Duane syndrome type 2 ? | |
Having a heart attack increases your chances of having another one. Therefore, it is very important that you and your family know how and when to seek medical attention. Talk to your doctor about making an emergency action plan, and discuss it with your family. The emergency action plan should include warning signs or... | What is (are) Heart Attack ? | |
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing benign prostatic hyperplasia. However, a health care provider can give information about how changes in eating, diet, or nutrition could help with treatment. Men should talk with a health care provider or dietitian about wh... | What to do for Prostate Enlargement: Benign Prostatic Hyperplasia ? | |
These resources address the diagnosis or management of congenital bilateral absence of the vas deferens: Gene Review: Gene Review: CFTRRelated Disorders Genetic Testing Registry: Congenital bilateral absence of the vas deferens MedlinePlus Encyclopedia: Infertility MedlinePlus Encyclopedia: Pathway of sperm (image)... | What are the treatments for congenital bilateral absence of the vas deferens ? | |
Ascaris is an intestinal parasite of humans. It is the most common human worm infection. The larvae and adult worms live in the small intestine and can cause intestinal disease. | What is (are) Parasites - Ascariasis ? | |
How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. Clinical trials with ALS patients showed that riluzole ... | What are the treatments for Amyotrophic lateral sclerosis ? | |
Ewing sarcoma is a type of tumor that forms in bone or soft tissue. Signs and symptoms of Ewing sarcoma include swelling and pain near the tumor. Tests that examine the bone and soft tissue are used to diagnose and stage Ewing sarcoma. A biopsy is done to diagnose Ewing sarcoma. Certain factors affect prognosis (... | What is (are) Ewing Sarcoma ? | |
As CKD progresses, people often lose their appetites because they find that foods do not taste the same. As a result, they consume fewer caloriesimportant units of energy in foodand may lose too much weight. Renal dietitians can help people with advanced CKD find healthy ways to add calories to their diet if they are l... | What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? | |
These resources address the diagnosis or management of Miller syndrome: Genetic Testing Registry: Miller 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 Palliati... | What are the treatments for Miller syndrome ? | |
Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they we... | What is (are) Chronic Fatigue Syndrome (CFS) ? | |
Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood. Mutations in the HPSE2 gene that cause Ochoa syndrome result in changes in the heparanase 2 protein that likely prevent it from func... | What are the genetic changes related to Ochoa syndrome ? | |
What are the signs and symptoms of BrookeSpiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BrookeSpiegler 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 Medic... | What are the symptoms of Brooke-Spiegler syndrome ? | |
Mutations in the SLC7A7 gene cause lysinuric protein intolerance. The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT1), which is involved in transporting lysine, arginine, and ornithine between cells in the body. The transportation of amino acids from the small inte... | What are the genetic changes related to lysinuric protein intolerance ? | |
What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to... | What causes Parsonage Turner syndrome ? | |
Distal myopathy 2 is inherited in an autosomal dominant pattern, which means one copy of the altered MATR3 gene in each cell is sufficient to cause the disorder. | Is distal myopathy 2 inherited ? | |
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the ches... | What is (are) Axial spondylometaphyseal dysplasia ? | |
Paroxysmal extreme pain disorder is a rare condition; approximately 80 affected individuals have been described in the scientific literature. | How many people are affected by paroxysmal extreme pain disorder ? | |
Xlinked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. This gene provides instructions for making an enzyme called 3hydroxysteroid8,7isomerase, which is responsible for one of the final steps in the production of cholesterol. Cholesterol is a waxy, fatlike substance that is produced in the body and... | What are the genetic changes related to X-linked chondrodysplasia punctata 2 ? | |
These resources address the diagnosis or management of adiposis dolorosa: Genetic Testing Registry: Lipomatosis dolorosa Merck Manual Consumer Version: Lipomas These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: Diagnostic Tests Drug Therapy Surgery a... | What are the treatments for adiposis dolorosa ? | |
What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabet... | What are the symptoms of Diabetic mastopathy ? | |
Smoking and health history can affect the risk of pancreatic cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may b... | Who is at risk for Pancreatic Cancer? ? | |
What causes of accessory navicular bone? The cause of accessory navicular bone is unknown. In some cases, the condition may be related to the development of flatfoot also known as pes planus, in other cases it may be related to repeated foot and ankle sprains. | What causes Accessory navicular bone ? | |
What treatments for metastatic clear cell renal cell carcinoma are available in North America? There are several treatments for metastatic clear cell renal cell carcinoma available in North America. IL2 and sunitinib as well as the medications temsirolimus, bevacizumab with interferon therapy, pazopanib, and sorafenib... | What are the treatments for Clear cell renal cell carcinoma ? | |
How might pachyonychia congenita be treated? There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. Some affected people may also require aids... | What are the treatments for Pachyonychia congenita ? | |
Most people with indigestion experience more than one of the following symptoms: Fullness during a meal. The person feels overly full soon after the meal starts and cannot finish the meal. Bothersome fullness after a meal. The person feels overly full after a mealit may feel like the food is staying in the stomach to... | What are the symptoms of Indigestion ? | |
How might Myhre syndrome be treated? Treatment of this condition is symptomatic and supportive. Children with Myhre syndrome may require management by a team of specialists, including pediatricians, speech pathologists, orthopedists (bone specialists), cardiologists (heart specialists), audiologists (hearing specialist... | What are the treatments for Myhre syndrome ? | |
How might EhlersDanlos syndrome, kyphoscoliosis type be treated? The treatment of EhlersDanlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor dev... | What are the treatments for Ehlers-Danlos syndrome, kyphoscoliosis type ? | |
Treatment is symptomatic. Physical and occupational therapy may help individuals recover from weakness or paralysis. A catheter may be necessary for patients with urinary incontinence. | What are the treatments for Spinal Cord Infarction ? | |
These resources address the diagnosis or management of 3betahydroxysteroid dehydrogenase deficiency: Genetic Testing Registry: 3 betaHydroxysteroid dehydrogenase deficiency Great Ormond Street Hospital for Children: Cortisol Deficiency MedlinePlus Encyclopedia: Ambiguous Genitalia MedlinePlus Encyclopedia: Congenit... | What are the treatments for 3-beta-hydroxysteroid dehydrogenase deficiency ? | |
What are the signs and symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus. If the information is available, the table below includes how ofte... | What are the symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus ? | |
Is Binswanger's disease an inherited condition? Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots). | Is Binswanger's disease inherited ? | |
Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the midtwenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting t... | What is (are) vitiligo ? | |
The NINDS supports research on genetic disorders such as COFS. The goals of this research include finding ways to prevent, treat, and cure these disorders. | what research (or clinical trials) is being done for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? | |
Most cases of progressive supranuclear palsy are sporadic, which means they occur in people with no history of the disorder in their family. However, some people with this disorder have had family members with related conditions, such as parkinsonism and a loss of intellectual functions (dementia). When progressive sup... | Is progressive supranuclear palsy inherited ? | |
What causes juvenile myoclonic epilepsy? The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a complex mode of inheritance. In individuals with juvenile myocl... | What causes Juvenile myoclonic epilepsy ? | |
What are the signs and symptoms of Reducing body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Reducing body 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... | What are the symptoms of Reducing body myopathy ? | |
The complications of mineral and bone disorder in CKD include slowed bone growth and deformities, and heart and blood vessel problems. Slowed Bone Growth and Deformities Damaged kidneys must work harder to clear phosphorus from the body. High levels of phosphorus cause lower levels of calcium in the blood, resulting in... | What are the complications of Mineral and Bone Disorder in Chronic Kidney Disease ? | |
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the ... | What is (are) myotonia congenita ? | |
What causes hemolytic uremic syndrome? Hemolytic uremic syndrome often occurs after a gastrointestinal infections with E. coli bacteria (Escherichia coli 0157:H7). The condition has also been linked to other gastrointestinal infections, including shigella and salmonella, as well as infections outside of the gastrointes... | What causes Hemolytic uremic syndrome ? | |
Your doctor will diagnose a heart attack based on your signs and symptoms, your medical and family histories, and test results. Diagnostic Tests EKG (Electrocardiogram) An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm... | How to diagnose Heart Attack ? | |
How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. Clinical trials with ALS patients showed that riluzole ... | What are the treatments for Amyotrophic lateral sclerosis ? | |
What are the signs and symptoms of His bundle tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for His bundle tachycardia. 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... | What are the symptoms of His bundle tachycardia ? | |
Kidney failure can affect a persons health in several ways. When the kidneys stop working, waste products build up in the blood, a condition known as uremia. People with kidney failure can avoid most of the problems of uremia by having regular dialysis treatments and limiting foods that contain sodium, potassium, an... | What to do for Kidney Failure: What to Expect ? | |
Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which people are given anesthetic gases. Susceptibility to malignant hyperthermia is probably more frequent, because many people with an increased risk of this condition are never exposed to drugs that trigger a reaction. | How many people are affected by malignant hyperthermia ? | |
People who are healthy should follow the guidelines below to reduce risk of toxoplasmosis. If you have a weakened immune system, please see guidelines for Immunocompromised Persons. Reduce Risk from Food To prevent risk of toxoplasmosis and other infections from food: Freeze meat for several days at subzero (0�� F) t... | How to prevent Parasites - Toxoplasmosis (Toxoplasma infection) ? | |
Bjrnstad syndrome is caused by mutations in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process t... | What are the genetic changes related to Bjrnstad syndrome ? | |
The overall prevalence of sialidosis is unknown. Sialidosis type I appears to be more common in people with Italian ancestry. | How many people are affected by sialidosis ? | |
How is doparesponsive dystonia diagnosed? Doparesponsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most pra... | How to diagnose Dopa-responsive dystonia ? | |
How might BarraquerSimons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or oth... | What are the treatments for Barraquer-Simons syndrome ? | |
Angiostrongylus cantonensis is a parasitic worm of rats. It is also called the rat lungworm. The adult form of the parasite is found only in rodents. Infected rats pass larvae of the parasite in their feces. Snails and slugs get infected by ingesting the larvae. These larvae mature in snails and slugs but do not become... | What is (are) Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ? | |
Research found that that prompt treatment of macular edema with antiVEGF drugs, with or without laser treatment, resulted in better vision than laser treatment alone or steroid injections. When injected into the eye, these drugs reduce fluid leakage and interfere with the growth of new blood vessels in the retina. In s... | What are the treatments for Diabetic Retinopathy ? | |
LennoxGastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. People with LennoxGastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. More than threequarters of affected individuals... | What is (are) Lennox-Gastaut syndrome ? | |
What are the signs and symptoms of ImerslundGrasbeck syndrome? Affected individuals often first experience nonspecific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also... | What are the symptoms of Imerslund-Grasbeck syndrome ? | |
On this Page General Information What is vancomycinresistant enterococci? What types of infections does vancomycinresistant enterococci cause? Are certain people at risk of getting vancomycinresistant enterococci? What is the treatment for vancomycinresistant enterococci? How is vancomycinresistant enterococci spread? ... | how can patients prevent the spread of vancomycin-resistant enterococci? | |
Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluidfilled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cy... | What is (are) Porencephaly ? | |
These resources address the diagnosis or management of deafnessdystoniaoptic neuronopathy syndrome: Gene Review: Gene Review: DeafnessDystoniaOptic Neuronopathy Syndrome Genetic Testing Registry: MohrTranebjaerg syndrome These resources from MedlinePlus offer information about the diagnosis and management of various ... | What are the treatments for deafness-dystonia-optic neuronopathy syndrome ? | |
What are the signs and symptoms of PotockiLupski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PotockiLupski 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... | What are the symptoms of Potocki-Lupski syndrome ? | |
Gout is a form of arthritis that frequently affects joints in the lower part of the body such as the knees, ankles, or toes. The affected joint may become swollen, red, or warm. Attacks usually occur at night. Sometime during the course of the disease, many patients will develop gout in the big toe. Other signs and sym... | What are the symptoms of Gout ? | |
These resources address the diagnosis or management of glycine encephalopathy: Baby's First Test Gene Review: Gene Review: Glycine Encephalopathy Genetic Testing Registry: Nonketotic hyperglycinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: D... | What are the treatments for glycine encephalopathy ? | |
Familial malelimited precocious puberty is a rare disorder; its prevalence is unknown. | How many people are affected by familial male-limited precocious puberty ? | |
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: The patient's age. Where in the body the tumor started. The size of the tumor at the time of diagnosis. Whether the tumor has been completely removed by surg... | What is the outlook for Childhood Rhabdomyosarcoma ? | |
Caudal regression syndrome occurs sporadically, which means it occurs in people with no history of the condition in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. | Is caudal regression syndrome inherited ? | |
These resources address the diagnosis or management of VACTERL association: MedlinePlus Encyclopedia: Tracheoesophageal Fistula and Esophageal Atresia Repair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: Diagnostic Tests Drug Therapy Surgery and ... | What are the treatments for VACTERL association ? | |
Mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 gene can cause dominant multiple epiphyseal dysplasia. These genes provide instructions for making proteins that are found in the spaces between cartilageforming cells (chondrocytes). These proteins interact with each other and play an important role in cartilage ... | What are the genetic changes related to multiple epiphyseal dysplasia ? |
README.md exists but content is empty.
- Downloads last month
- 5