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<s>[INST] Human: Is D-bifunctional protein deficiency inherited ? [/INST] Assistant: 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. </s>

<s>[INST] Human: What is (are) Tourette syndrome ? [/INST] Assistant: Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. Tourette syndrome involves both motor tics, which are uncontrolled body movements, and vocal or phonic tics, which are outbursts of sound. Some motor tics are simple and involve only one muscle group. Simple motor tics, such as rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first signs of Tourette syndrome. Motor tics also can be complex (involving multiple muscle groups), such as jumping, kicking, hopping, or spinning. Vocal tics, which generally appear later than motor tics, also can be simple or complex. Simple vocal tics include grunting, sniffing, and throat-clearing. More complex vocalizations include repeating the words of others (echolalia) or repeating one's own words (palilalia). The involuntary use of inappropriate or obscene language (coprolalia) is possible, but uncommon, among people with Tourette syndrome. In addition to frequent tics, people with Tourette syndrome are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep. </s>

<s>[INST] Human: What is (are) Compulsive Gambling ? [/INST] Assistant: Many people enjoy gambling, whether it's betting on a horse or playing poker on the Internet. Most people who gamble don't have a problem, but some lose control of their gambling. Signs of problem gambling include - Always thinking about gambling - Lying about gambling - Spending work or family time gambling - Feeling bad after you gamble, but not quitting - Gambling with money you need for other things If you have concerns about your gambling, ask for help. Your health care provider can work with you to find the treatment that's best for you. NIH: National Institutes of Health </s>

<s>[INST] Human: Who is at risk for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors)? ? [/INST] Assistant: Having certain syndromes can increase the risk of pancreatic NETs. 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 doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Multiple endocrine neoplasia type 1 (MEN1) syndrome is a risk factor for pancreatic NETs. </s>

<s>[INST] Human: How to prevent Medullary Sponge Kidney ? [/INST] Assistant: Health care providers may prescribe certain medications to prevent UTIs and kidney stones: - A person with medullary sponge kidney may need to continue taking a low-dose antibiotic to prevent recurrent infections. - Medications that reduce calcium in the urine may help prevent calcium kidney stones. These medications may include - potassium citrate - thiazide </s>

<s>[INST] Human: What is (are) Adrenal Gland Disorders ? [/INST] Assistant: The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include - Genetic mutations - Tumors including pheochromocytomas - Infections - A problem in another gland, such as the pituitary, which helps to regulate the adrenal gland - Certain medicines Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders. NIH: National Institute of Child Health and Human Development </s>

<s>[INST] Human: What are the symptoms of Parkinson disease type 9 ? [/INST] Assistant: What are the signs and symptoms of Parkinson disease type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Parkinson disease 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) Distal sensory impairment 5% Seizures 5% Aggressive behavior - Akinesia - Anarthria - Anosmia - Autosomal recessive inheritance - Babinski sign - Dementia - Hallucinations - Hyperreflexia - Hypokinesia - Hyposmia - Mask-like facies - Myoclonus - Paraparesis - Parkinsonism - Parkinsonism with favorable response to dopaminergic medication - Postural instability - Psychotic episodes - Rapidly progressive - Rigidity - Slow saccadic eye movements - Spasticity - Supranuclear gaze palsy - Torticollis - 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. </s>

<s>[INST] Human: What is (are) Thyroid Diseases ? [/INST] Assistant: Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. Thyroid problems include - Goiter - enlargement of the thyroid gland - Hyperthyroidism - when your thyroid gland makes more thyroid hormones than your body needs - Hypothyroidism - when your thyroid gland does not make enough thyroid hormones - Thyroid cancer - Thyroid nodules - lumps in the thyroid gland - Thyroiditis - swelling of the thyroid Dept. of Health and Human Services Office on Women's Health </s>

<s>[INST] Human: What are the treatments for recurrent hydatidiform mole ? [/INST] Assistant: These resources address the diagnosis or management of recurrent hydatidiform mole: - American Cancer Society: Signs and Symptoms of Gestational Trophoblastic Disease - Genetic Testing Registry: Hydatidiform mole - Genetic Testing Registry: Hydatidiform mole, recurrent, 2 - MedlinePlus Encyclopedia: Choriocarcinoma - MedlinePlus Encyclopedia: Hydatidiform Mole 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 </s>

<s>[INST] Human: What are the symptoms of Congenital dyserythropoietic anemia type 2 ? [/INST] Assistant: What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. During pregnancy and other special circumstances (such as anemic crisis, major surgery and infections), blood transfusions may be necessary. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia 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) Anemia of inadequate production - Autosomal recessive inheritance - Cholelithiasis - Endopolyploidy on chromosome studies of bone marrow - Jaundice - Reduced activity of N-acetylglucosaminyltransferase II - Reticulocytosis - Splenomegaly - 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. </s>

<s>[INST] Human: What is (are) Balance Problems ? [/INST] Assistant: You can help your doctor make a diagnosis by writing down key information about your dizziness or balance problem beforehand and giving the information to your doctor during the visit. Write down answers to these questions for your doctor: - How would you describe your dizziness or balance problem? - If the room is spinning around you, which ways does it appear to turn? - How often do you have dizziness or balance problems? - Have you ever fallen? - If so, when did you fall, where did you fall, and how often have you fallen? Tell your doctor as much as you can. - What medications do you take? Remember to include all over-the-counter medicines, including aspirin, antihistamines, or sleep aids. - What is the name of the medication? - How much medication do you take each day? - What times of the day do you take the medication? - What is the health condition for which you take the medication? How would you describe your dizziness or balance problem? If the room is spinning around you, which ways does it appear to turn? How often do you have dizziness or balance problems? Have you ever fallen? If so, when did you fall, where did you fall, and how often have you fallen? Tell your doctor as much as you can. What medications do you take? Remember to include all over-the-counter medicines, including aspirin, antihistamines, or sleep aids. What is the name of the medication? How much medication do you take each day? What times of the day do you take the medication? What is the health condition for which you take the medication? See a video on describing symptoms and health concerns during a doctor visit. </s>

<s>[INST] Human: What to do for Causes of Diabetes ? [/INST] Assistant: - 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. </s>

<s>[INST] Human: What is (are) Prostate Cancer ? [/INST] Assistant: How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. How Prostate Cancer Occurs Prostate cancer occurs when a tumor forms in the tissue of the prostate, a gland in the male reproductive system. In its early stage, prostate cancer needs the male hormone testosterone to grow and survive. The prostate is about the size of a large walnut. It is located below the bladder and in front of the rectum. The prostate's main function is to make fluid for semen, a white substance that carries sperm. Prostate cancer is one of the most common types of cancer among American men. It is a slow-growing disease that mostly affects older men. In fact, more than 60 percent of all prostate cancers are found in men over the age of 65. The disease rarely occurs in men younger than 40 years of age. Prostate Cancer Can Spread Sometimes, cancer cells break away from a malignant tumor in the prostate and enter the bloodstream or the lymphatic system and travel to other organs in the body. When cancer spreads from its original location in the prostate to another part of the body such as the bone, it is called metastatic prostate cancer -- not bone cancer. Doctors sometimes call this distant disease. Surviving Prostate Cancer Today, more men are surviving prostate cancer than ever before. Treatment can be effective, especially when the cancer has not spread beyond the region of the prostate. </s>

<s>[INST] Human: How many people are affected by STING-associated vasculopathy with onset in infancy ? [/INST] Assistant: The prevalence of this condition is unknown. Only a few affected individuals have been described in the medical literature. </s>

<s>[INST] Human: What are the genetic changes related to myoclonus-dystonia ? [/INST] Assistant: Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon ()-sarcoglycan, whose function is unknown. The -sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. SGCE gene mutations that cause myoclonus-dystonia result in a shortage of -sarcoglycan protein. The protein shortage seems to affect the regions of the brain involved in coordinating movements (the cerebellum) and controlling movements (the basal ganglia). Thus, the movement problems experienced by people with myoclonus-dystonia are caused by dysfunction in the brain, not the muscles. People with this condition show no signs of muscle disease. It is unknown why SGCE gene mutations seem only to affect the brain. </s>

<s>[INST] Human: What is the outlook for Fibromuscular Dysplasia ? [/INST] Assistant: Currently there is no cure for FMD. Medicines and angioplasty can reduce the risk of initial or recurrent stroke. In rare cases, FMD-related aneurysms can burst and bleed into the brain, causing stroke, permanent nerve damage, or death. </s>

<s>[INST] Human: Who is at risk for Colorectal Cancer? ? [/INST] Assistant: Studies show that the following risk factors may increase a person's chances of developing colorectal cancer: age, polyps, personal history, family history, and ulcerative colitis. </s>

<s>[INST] Human: How many people are affected by megalencephalic leukoencephalopathy with subcortical cysts ? [/INST] Assistant: Megalencephalic leukoencephalopathy with subcortical cysts is a rare condition; its exact prevalence is unknown. More than 150 cases have been reported in the scientific literature. </s>

<s>[INST] Human: What are the symptoms of Paralysis agitans, juvenile, of Hunt ? [/INST] Assistant: What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. 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 - Autosomal dominant inheritance - Bradykinesia - Dysarthria - Gait disturbance - Mask-like facies - Parkinsonism - Rigidity - Slow progression - Tremor - 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. </s>

<s>[INST] Human: How many people are affected by familial adenomatous polyposis ? [/INST] Assistant: The reported incidence of familial adenomatous polyposis varies from 1 in 7,000 to 1 in 22,000 individuals. </s>

<s>[INST] Human: What causes Tarsal tunnel syndrome ? [/INST] Assistant: What causes tarsal tunnel syndrome? There are a variety of factors that may cause tarsal tunnel syndrome. These may include repetitive stress with activities, trauma (e.g., crush injury, stretch injury, fractures, ankle dislocations or sprains), flat feet, and excess weight. Additionally, any lesion that occupies space within the tarsal tunnel region may cause pressure on the nerve and subsequent symptoms. Examples include tendonitis, hematoma, tumor, varicose veins, and lower extremity edema. </s>

<s>[INST] Human: What are the symptoms of Methionine adenosyltransferase deficiency ? [/INST] Assistant: What are the signs and symptoms of Methionine adenosyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Methionine adenosyltransferase 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) Intellectual disability 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - CNS demyelination - Dystonia - Hypermethioninemia - Hyperreflexia - Peripheral demyelination - 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. </s>

<s>[INST] Human: How to diagnose Mitral Valve Prolapse ? [/INST] Assistant: Mitral valve prolapse (MVP) most often is detected during a routine physical exam. During the exam, your doctor will listen to your heart with a stethoscope. Stretched valve flaps can make a clicking sound as they shut. If the mitral valve is leaking blood back into the left atrium, your doctor may heart a heart murmur or whooshing sound. However, these abnormal heart sounds may come and go. Your doctor may not hear them at the time of an exam, even if you have MVP. Thus, you also may have tests and procedures to diagnose MVP. Diagnostic Tests and Procedures Echocardiography Echocardiography (echo) is the most useful test for diagnosing MVP. This painless test uses sound waves to create a moving picture of your heart. Echo shows the size and shape of your heart and how well your heart chambers and valves are working. The test also can show areas of heart muscle that aren't contracting normally because of poor blood flow or injury to the heart muscle. Echo can show prolapse of the mitral valve flaps and backflow of blood through the leaky valve. There are several types of echo, including stress echo. Stress echo is done before and after a stress test. During a stress test, you exercise or take medicine (given by your doctor) to make your heart work hard and beat fast. You may have stress echo to find out whether you have decreased blood flow to your heart (a sign of coronary heart disease). Echo also can be done by placing a tiny probe in your esophagus to get a closer look at the mitral valve. The esophagus is the passage leading from your mouth to your stomach. The probe uses sound waves to create pictures of your heart. This form of echo is called transesophageal (tranz-ih-sof-uh-JEE-ul) echocardiography, or TEE. Doppler Ultrasound A Doppler ultrasound is part of an echo test. A Doppler ultrasound shows the speed and direction of blood flow through the mitral valve. Other Tests Other tests that can help diagnose MVP include: A chest x ray. This test is used to look for fluid in your lungs or to show whether your heart is enlarged. An EKG (electrocardiogram). An EKG is a simple test that records your heart's electrical activity. An EKG can show how fast your heart is beating and whether its rhythm is steady or irregular. This test also records the strength and timing of electrical signals as they pass through your heart. </s>

<s>[INST] Human: What is (are) Throat Cancer ? [/INST] Assistant: Throat cancer is a type of head and neck cancer. Throat cancer has different names, depending on what part of the throat is affected. The different parts of the throat are called the oropharynx, the hypopharynx, and the nasopharynx. Sometimes the larynx, or voice box, is also included. The main risk factors for throat cancer are smoking or using smokeless tobacco and use of alcohol. Symptoms of throat cancer may include - Trouble breathing or speaking - Frequent headaches - Pain or ringing in the ears - Trouble swallowing - Ear pain Treatments include surgery, radiation therapy, and chemotherapy. NIH: National Cancer Institute </s>

<s>[INST] Human: How to diagnose Heart Palpitations ? [/INST] Assistant: First, your doctor will want to find out whether your palpitations are harmless or related to a heart problem. He or she will ask about your symptoms and medical history, do a physical exam, and recommend several basic tests. This information may point to a heart problem as the cause of your palpitations. If so, your doctor may recommend more tests. These tests will help show what the problem is, so your doctor can decide how to treat it. The cause of palpitations may be hard to diagnose, especially if symptoms don't occur regularly. Specialists Involved Several types of doctors may work with you to diagnose and treat your palpitations. These include a: Primary care doctor Cardiologist (a doctor who specializes in diagnosing and treating heart diseases and conditions) Electrophysiologist (a cardiologist who specializes in the heart's electrical system) Medical History Your doctor will ask questions about your palpitations, such as: When did they begin? How long do they last? How often do they occur? Do they start and stop suddenly? Does your heartbeat feel steady or irregular during the palpitations? Do other symptoms occur with the palpitations? Do your palpitations have a pattern? For example, do they occur when you exercise or drink coffee? Do they happen at a certain time of day? Your doctor also may ask about your use of caffeine, alcohol, supplements, and illegal drugs. Physical Exam Your doctor will take your pulse to find out how fast your heart is beating and whether its rhythm is normal. He or she also will use a stethoscope to listen to your heartbeat. Your doctor may look for signs of conditions that can cause palpitations, such as an overactive thyroid. Diagnostic Tests Often, the first test that's done is an EKG (electrocardiogram). This simple test records your heart's electrical activity. An EKG shows how fast your heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through your heart. Even if your EKG results are normal, you may still have a medical condition that's causing palpitations. If your doctor suspects this is the case, you may have blood tests to gather more information about your heart's structure, function, and electrical system. Holter or Event Monitor A standard EKG only records the heartbeat for a few seconds. It won't detect heart rhythm problems that don't happen during the test. To diagnose problems that come and go, your doctor may have you wear a Holter or event monitor. A Holter monitor records the hearts electrical activity for a full 24- or 48-hour period. You wear patches called electrodes on your chest. Wires connect the patches to a small, portable recorder. The recorder can be clipped to a belt, kept in a pocket, or hung around your neck. During the 24- or 48-hour period, you do your usual daily activities. You use a notebook to record any symptoms you have and the time they occur. You then return both the recorder and the notebook to your doctor to read the results. Your doctor can see how your heart was beating at the time you had symptoms. An event monitor is similar to a Holter monitor. You wear an event monitor while doing your normal activities. However, an event monitor only records your heart's electrical activity at certain times while you're wearing it. For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms. You can wear an event monitor for weeks or until symptoms occur. Holter or Event Monitor Echocardiography Echocardiography uses sound waves to create a moving picture of your heart. The picture shows the size and shape of your heart and how well your heart chambers and valves are working. The test also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. Stress Test Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you cant exercise, you may be given medicine to make your heart work hard and beat fast. </s>

<s>[INST] Human: What is (are) Whipple Disease ? [/INST] Assistant: Whipple disease is a rare bacterial infection that primarily affects the small intestine. The infection may spread to any organ in the body; however, it more commonly affects the - joints - central nervous system, which includes the brain, the spinal cord, and nerves located throughout the body - heart - eyes - lungs Left untreated, Whipple disease gets worse and is usually life threatening. </s>

<s>[INST] Human: What are the genetic changes related to congenital stromal corneal dystrophy ? [/INST] Assistant: Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. In the cornea, well-organized bundles of collagen make the cornea transparent. Decorin ensures that collagen fibrils in the cornea are uniformly sized and regularly spaced. Mutations in the DCN gene lead to the production of a defective version of decorin. This abnormal protein interferes with the organization of collagen fibrils in the cornea. As poorly arranged collagen fibrils accumulate, the cornea becomes cloudy. These corneal changes lead to reduced visual acuity and related eye abnormalities. </s>

<s>[INST] Human: What are the genetic changes related to familial isolated pituitary adenoma ? [/INST] Assistant: FIPA can be caused by mutations in the AIP gene. The function of the protein produced from this gene is not well understood, but it is thought to act as a tumor suppressor, which means it helps prevent cells from growing and dividing in an uncontrolled way. Mutations in the AIP gene alter the protein or reduce the production of functional protein. These changes likely impair the ability of the AIP protein to control the growth and division of cells, allowing pituitary cells to grow and divide unchecked and form a tumor. It is not known why the pituitary gland is specifically affected or why certain types of pituitary adenomas develop. AIP gene mutations account for approximately 15 to 25 percent of cases of FIPA. Somatotropinomas are the most common type of tumor in these individuals. The tumors usually occur at a younger age, often in childhood, and are larger than FIPA tumors not caused by AIP gene mutations. The other genetic causes of FIPA are unknown. </s>

<s>[INST] Human: Is pulmonary veno-occlusive disease inherited ? [/INST] Assistant: When caused by mutations in the EIF2AK4 gene, PVOD 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. In contrast, when caused by mutations in another gene, the condition can have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, one parent of an affected individual typically has increased blood pressure in the vessels of the lungs. </s>

<s>[INST] Human: What are the treatments for Milroy disease ? [/INST] Assistant: These resources address the diagnosis or management of Milroy disease: - Gene Review: Gene Review: Milroy Disease - Genetic Testing Registry: Hereditary lymphedema type I - MedlinePlus Encyclopedia: Lymphatic Obstruction 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 </s>

<s>[INST] Human: What to do for What I need to know about Lactose Intolerance ? [/INST] Assistant: - Lactose is a sugar found in milk and milk products. - Lactose intolerance means you have symptoms such as bloating, diarrhea, and gas after you have milk or milk products. - Your doctor will try to find out if you have lactose intolerance with a medical, family, and diet history; a physical exam; and medical tests. - Most people with lactose intolerance can eat or drink some lactose without symptoms. - If you have lactose intolerance, you can make changes to what you eat and drink. Some people may only need to have less lactose. Others may need to avoid lactose altogether. - Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D. For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes. - Lactose is in many food products and in some medicines. </s>

<s>[INST] Human: What are the symptoms of Limb deficiencies distal with micrognathia ? [/INST] Assistant: What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. 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 chromosome segregation 90% Abnormality of the ankles 90% Abnormality of the metacarpal bones 90% Low-set, posteriorly rotated ears 90% Split foot 90% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Conductive hearing impairment 50% Cryptorchidism 50% Myopia 50% Narrow mouth 50% Proteinuria 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Abnormality of the ulna 7.5% Aplasia/Hypoplasia of the tongue 7.5% Cleft palate 7.5% Macrocephaly 7.5% Microdontia 7.5% Nystagmus 7.5% Prominent nasal bridge 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Tarsal synostosis 7.5% Hypoplasia of the maxilla 5% Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Camptodactyly - High palate - Intellectual disability - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Split hand - 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. </s>

<s>[INST] Human: What are the symptoms of Hydrolethalus syndrome ? [/INST] Assistant: What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus 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) Polyhydramnios 92% Severe hydrocephalus 92% Microphthalmia 86% Postaxial hand polydactyly 77% Cleft in skull base 76% Stillbirth 73% Abnormality of the pinna 70% Low-set ears 70% Abnormal lung lobation 66% Laryngeal hypoplasia 57% Tracheal stenosis 57% Cleft palate 55% Talipes equinovarus 52% Complete atrioventricular canal defect 48% Duplication of phalanx of hallux 47% Bifid uterus 33% Hypospadias 33% Upper limb undergrowth 24% Hydronephrosis 16% Abnormal cortical gyration - Abnormality of the vagina - Absent septum pellucidum - Accessory spleen - Adrenal gland dysgenesis - Agenesis of corpus callosum - Agenesis of the diaphragm - Arrhinencephaly - Autosomal recessive inheritance - Bifid nose - Broad neck - Dandy-Walker malformation - Heterotopia - Intrauterine growth retardation - Median cleft lip - Omphalocele - Preaxial hand polydactyly - Proximal tibial hypoplasia - 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. </s>

<s>[INST] Human: What causes Alport syndrome ? [/INST] Assistant: What causes Alport syndrome? Alport syndrome may be caused by mutations in either the COL4A3, COL4A4, or COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. Glomeruli are clusters of specialized blood vessels that remove water and waste products from the blood and create urine. Mutations in the genes mentioned above result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood. As a result, blood and protein pass into the urine. Over time, the kidneys become scarred and many people with Alport syndrome develop kidney failure. Type IV collagen is also an important component of the organ of Corti, an inner ear structure that transforms sound waves into nerve impulses for the brain. Alterations in type IV collagen may result in abnormal inner ear function, which can lead to hearing loss. In addition, type IV collagen plays a role in the eye, where it helps maintain the shape of the lens and the normal color of the retina. Mutations found in Alport syndrome may affect the shape of the lenses and the color of the retina. </s>

<s>[INST] Human: What are the symptoms of Tetraploidy ? [/INST] Assistant: What are the signs and symptoms of Tetraploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraploidy. 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 chromosome segregation 90% Convex nasal ridge 90% Intrauterine growth retardation 90% Microcephaly 90% Narrow forehead 90% Hypoplasia of the ear cartilage 50% Radial club hand 50% Short philtrum 50% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the lungs 7.5% Aplasia/Hypoplasia of the thymus 7.5% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Preauricular skin tag 7.5% Renal hypoplasia/aplasia 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. </s>

<s>[INST] Human: What are the treatments for Megalencephaly ? [/INST] Assistant: There is no standard treatment for megalencephaly. Treatment will depend upon the disorder with which the megalencephaly is associated and will address individual symptoms and disabilities. </s>

<s>[INST] Human: What to do for Henoch-Schnlein Purpura ? [/INST] Assistant: - Henoch-Schnlein purpura (HSP) is a disease that causes small blood vessels in the body to become inflamed and leak. - HSP is caused by an abnormal immune system response in which the bodys immune system attacks the bodys own cells and organs. The factors that cause this immune system response are not known. - The symptoms of HSP include the following: - rash - digestive tract problems - arthritis - kidney involvement - In children, the risk of kidney damage leading to long-term problems may be as high as 15 percent, but kidney failure affects only about 1 percent of children with HSP. Up to 40 percent of adults with HSP will have CKD or kidney failure within 15 years after diagnosis. - A diagnosis of HSP is suspected when a person has the characteristic rash and one of the following: - abdominal pain - joint pain - antibody deposits on the skin - hematuria or proteinuria - Antibody deposits on the skin can confirm the diagnosis of HSP. - No specific treatment for HSP exists. The main goal of treatment is to relieve symptoms such as joint pain, abdominal pain, and swelling. People with kidney involvement may receive treatment aimed at preventing long-term kidney disease. </s>

<s>[INST] Human: What is (are) Monoclonal gammopathy of undetermined significance ? [/INST] Assistant: Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to certain forms of blood cancer (such as multiple myeloma, macroglobulinemia, or B-cell lymphoma). MGUS is thought to be a multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. People with MGUS are usually monitored closely to ensure that the levels of monoclonal protein do not rise and other problems do not develop. Those with stable levels of monoclonal protein typically do not require treatment. </s>

<s>[INST] Human: How to prevent High Blood Pressure and Kidney Disease ? [/INST] Assistant: The best way to slow or prevent kidney disease from high blood pressure is to take steps to lower blood pressure. These steps include a combination of medication and lifestyle changes, such as - healthy eating - physical activity - maintaining a healthy weight - quitting smoking - managing stress No matter what the cause of the kidney disease, high blood pressure can increase damage to the kidneys. People with kidney disease should keep their blood pressure below 140/90.4 Medication Medications that lower blood pressure can also significantly slow the progression of kidney disease. Two types of blood pressure-lowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have been shown effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a health care provider may prescribe a diuretica medication that helps the kidneys remove fluid from the blood. A person may also need beta blockers, calcium channel blockers, and other blood pressure medications. </s>

<s>[INST] Human: How to prevent Pneumonia ? [/INST] Assistant: Pneumonia can be very serious and even life threatening. When possible, take steps to prevent the infection, especially if you're in a high-risk group. Vaccines Vaccines are available to prevent pneumococcal pneumonia and the flu. Vaccines can't prevent all cases of infection. However, compared to people who don't get vaccinated, those who do and still get pneumonia tend to have: Milder cases of the infection Pneumonia that doesn't last as long Fewer serious complications Pneumococcal Pneumonia Vaccine A vaccine is available to prevent pneumococcal pneumonia. In most adults, one shot is good for at least 5 years of protection. This vaccine often is recommended for: People who are 65 years old or older. People who have chronic (ongoing) diseases, serious long-term health problems, or weak immune systems. For example, this may include people who have cancer, HIV/AIDS, asthma, or damaged or removed spleens. People who smoke. Children who are younger than 5 years old. Children who are 518 years of age with certain medical conditions, such as heart or lung diseases or cancer. For more information, talk with your child's doctor. For more information about the pneumococcal pneumonia vaccine, go to the Centers for Disease Control and Prevention's (CDC's) Vaccines and Preventable Diseases: Pneumococcal Vaccination Web page. Influenza Vaccine The vaccine that helps prevent the flu is good for 1 year. It's usually given in October or November, before peak flu season. Because many people get pneumonia after having the flu, this vaccine also helps prevent pneumonia. For more information about the influenza vaccine, go to the CDC's Vaccines and Preventable Diseases: Seasonal Influenza (Flu) Vaccination Web page. Hib Vaccine Haemophilus influenzae type b (Hib) is a type of bacteria that can cause pneumonia and meningitis (men-in-JI-tis). (Meningitis is an infection of the covering of the brain and spinal cord.) The Hib vaccine is given to children to help prevent these infections. The vaccine is recommended for all children in the United States who are younger than 5 years old. The vaccine often is given to infants starting at 2 months of age. For more information about the Hib vaccine, go to the CDC's Vaccines and Preventable Diseases: Hib Vaccination Web page. Other Ways To Help Prevent Pneumonia You also can take the following steps to help prevent pneumonia: Wash your hands with soap and water or alcohol-based rubs to kill germs. Don't smoke. Smoking damages your lungs' ability to filter out and defend against germs. For information about how to quit smoking, go to the Health Topics Smoking and Your Heart article. Although this resource focuses on heart health, it includes general information about how to quit smoking. Keep your immune system strong. Get plenty of rest and physical activity and follow a healthy diet. If you have pneumonia, limit contact with family and friends. Cover your nose and mouth while coughing or sneezing, and get rid of used tissues right away. These actions help keep the infection from spreading. </s>

<s>[INST] Human: What are the treatments for actin-accumulation myopathy ? [/INST] Assistant: These resources address the diagnosis or management of actin-accumulation myopathy: - Genetic Testing Registry: Nemaline myopathy 3 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 </s>

<s>[INST] Human: What are the genetic changes related to Cornelia de Lange syndrome ? [/INST] Assistant: Cornelia de Lange syndrome can result from mutations in at least five genes: NIPBL, SMC1A, HDAC8, RAD21, and SMC3. Mutations in the NIPBL gene have been identified in more than half of all people with this condition; mutations in the other genes are much less common. The proteins produced from all five genes contribute to the structure or function of the cohesin complex, a group of proteins with an important role in directing development before birth. Within cells, the cohesin complex helps regulate the structure and organization of chromosomes, stabilize cells' genetic information, and repair damaged DNA. The cohesin complex also regulates the activity of certain genes that guide the development of limbs, face, and other parts of the body. Mutations in the NIPBL, SMC1A, HDAC8, RAD21, and SMC3 genes cause Cornelia de Lange syndrome by impairing the function of the cohesin complex, which disrupts gene regulation during critical stages of early development. The features of Cornelia de Lange syndrome vary widely, and the severity of the disorder can differ even in individuals with the same gene mutation. Researchers suspect that additional genetic or environmental factors may be important for determining the specific signs and symptoms in each individual. In general, SMC1A, RAD21, and SMC3 gene mutations cause milder signs and symptoms than NIPBL gene mutations. Mutations in the HDAC8 gene cause a somewhat different set of features, including delayed closure of the "soft spot" on the head (the anterior fontanelle) in infancy, widely spaced eyes, and dental abnormalities. Like affected individuals with NIPBL gene mutations, those with HDAC8 gene mutations may have significant intellectual disability. In about 30 percent of cases, the cause of Cornelia de Lange syndrome is unknown. Researchers are looking for additional changes in the five known genes, as well as mutations in other genes, that may cause this condition. </s>

<s>[INST] Human: What causes Prader-Willi syndrome ? [/INST] Assistant: What causes Prader-Willi syndrome? Prader-Willi syndrome (PWS) is caused by the loss of active genes in a specific region of chromosome 15. People normally inherit one copy of chromosome 15 from each parent. Some genes on chromosome 15 are only active (or "expressed") on the copy that is inherited from a person's father (the paternal copy). When genes are only active if inherited from a specific parent, it is called genomic imprinting. About 70% of cases of PWS occur when a person is missing specific genes on the long arm of the paternal copy of chromosome 15. This is called a deletion. While there are copies of these same genes on the maternal copy of chromosome 15, the maternal copies of these genes are not expressed. In about 25% of cases, PWS is due to a person inheriting only 2 maternal copies of chromosome 15, instead of one copy from each parent. This is called maternal uniparental disomy. Rarely (in about 2% of cases), PWS is caused by a rearrangement of chromosome material called a translocation, or by a change (mutation) or other defect that abnormally inactivates genes on the paternal chromosome 15. Each of these genetic changes result in a loss of gene function on part of chromosome 15, likely causing the characteristic features of PWS. </s>

<s>[INST] Human: What is (are) malignant migrating partial seizures of infancy ? [/INST] Assistant: Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay. The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. Depending on the region affected, seizures can involve sudden redness and warmth (flushing) of the face; drooling; short pauses in breathing (apnea); movement of the head or eyes to one side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, leg, or both on one side of the body. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures. Initially, the seizures associated with MMPSI are relatively infrequent, occurring every few weeks. Within a few months of the seizures starting, though, the frequency increases. Affected individuals can have clusters of five to 30 seizures several times a day. Each seizure typically lasts seconds to a couple of minutes, but they can be prolonged (classified as status epilepticus). In some cases, the seizure activity may be almost continuous for several days. After a year or more of persistent seizures, the episodes become less frequent. Seizures can affect growth of the brain and lead to a small head size (microcephaly). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the mental and motor skills they developed after birth, such as the ability to make eye contact and control their head movement. Many have weak muscle tone (hypotonia) and become "floppy." If seizures can be controlled for a short period, development may improve. Some affected children learn to reach for objects or walk. However, most children with this condition do not develop language skills. Because of the serious health problems caused by MMPSI, many affected individuals do not survive past infancy or early childhood. </s>

<s>[INST] Human: How many people are affected by nonsyndromic paraganglioma ? [/INST] Assistant: It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 people, and the prevalence of other paragangliomas is 1 in 1 million people. These statistics include syndromic and nonsyndromic paraganglioma and pheochromocytoma. </s>

<s>[INST] Human: What are the symptoms of Inguinal Hernia ? [/INST] Assistant: The first sign of an inguinal hernia is a small bulge on one or, rarely, on both sides of the grointhe area just above the groin crease between the lower abdomen and the thigh. The bulge may increase in size over time and usually disappears when lying down. Other signs and symptoms can include - discomfort or pain in the groinespecially when straining, lifting, coughing, or exercisingthat improves when resting - feelings such as weakness, heaviness, burning, or aching in the groin - a swollen or an enlarged scrotum in men or boys Indirect and direct inguinal hernias may slide in and out of the abdomen into the inguinal canal. A health care provider can often move them back into the abdomen with gentle massage. </s>

<s>[INST] Human: Is autosomal recessive cerebellar ataxia type 1 inherited ? [/INST] Assistant: 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. </s>

<s>[INST] Human: Is autoimmune polyglandular syndrome, type 1 inherited ? [/INST] Assistant: 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. </s>

<s>[INST] Human: What are the treatments for Parasites - Babesiosis ? [/INST] Assistant: Effective treatments are available. People who do not have any symptoms or signs of babesiosis usually do not need to be treated. Before considering treatment, the first step is to make sure the diagnosis is correct. For more information, people should talk to their health care provider. More on: Resources for Health Professionals: Treatment </s>

<s>[INST] Human: What is (are) Thalassemias ? [/INST] Assistant: Thalassemias (thal-a-SE-me-ahs) are inherited blood disorders. "Inherited" means that the disorder is passed from parents to children through genes. Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin (HEE-muh-glow-bin) than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. Hemoglobin also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled. People who have thalassemias can have mild or severe anemia (uh-NEE-me-uh). Anemia is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells. Overview Normal hemoglobin, also called hemoglobin A, has four protein chainstwo alpha globin and two beta globin. The two major types of thalassemia, alpha and beta, are named after defects in these protein chains. Four genes (two from each parent) are needed to make enough alpha globin protein chains. Alpha thalassemia trait occurs if one or two of the four genes are missing. If more than two genes are missing, moderate to severe anemia occurs. The most severe form of alpha thalassemia is called alpha thalassemia major or hydrops fetalis. Babies who have this disorder usually die before or shortly after birth. Two genes (one from each parent) are needed to make enough beta globin protein chains. Beta thalassemia occurs if one or both genes are altered. The severity of beta thalassemia depends on how much one or both genes are affected. If both genes are affected, the result is moderate to severe anemia. The severe form of beta thalassemia is known as thalassemia major or Cooley's anemia. Thalassemias affect males and females. The disorders occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions. Doctors diagnose thalassemias using blood tests. The disorders are treated with blood transfusions, medicines, and other procedures. Outlook Treatments for thalassemias have improved over the years. People who have moderate or severe thalassemias are now living longer and have better quality of life. However, complications from thalassemias and their treatments are frequent. People who have moderate or severe thalassemias must closely follow their treatment plans. They need to take care of themselves to remain as healthy as possible. </s>

<s>[INST] Human: How many people are affected by glycogen storage disease type I ? [/INST] Assistant: The overall incidence of GSDI is 1 in 100,000 individuals. GSDIa is more common than GSDIb, accounting for 80 percent of all GSDI cases. </s>

<s>[INST] Human: What is (are) Coma ? [/INST] Assistant: A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia. NIH: National Institute of Neurological Disorders and Stroke </s>

<s>[INST] Human: What are the genetic changes related to Klinefelter syndrome ? [/INST] Assistant: Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People typically have two sex chromosomes in each cell: females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, Klinefelter syndrome results from the presence of one extra copy of the X chromosome in each cell (47,XXY). Extra copies of genes on the X chromosome interfere with male sexual development, often preventing the testes from functioning normally and reducing the levels of testosterone. Most people with an extra X chromosome have the features described above, although some have few or no associated signs and symptoms. Some people with features of Klinefelter syndrome have more than one extra sex chromosome in each cell (for example, 48,XXXY or 49,XXXXY). These conditions, which are often called variants of Klinefelter syndrome, tend to cause more severe signs and symptoms than classic Klinefelter syndrome. In addition to affecting male sexual development, variants of Klinefelter syndrome are associated with intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. As the number of extra sex chromosomes increases, so does the risk of these health problems. Some people with features of Klinefelter syndrome have the extra X chromosome in only some of their cells; in these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). Individuals with mosaic Klinefelter syndrome may have milder signs and symptoms, depending on how many cells have an additional X chromosome. </s>

<s>[INST] Human: What is (are) Erectile Dysfunction ? [/INST] Assistant: Erectile dysfunction (ED) is a common type of male sexual dysfunction. It is when a man has trouble getting or keeping an erection. ED becomes more common as you get older. But it's not a natural part of aging. Some people have trouble speaking with their doctors about sex. But if you have ED, you should tell your doctor. ED can be a sign of health problems. It may mean your blood vessels are clogged. It may mean you have nerve damage from diabetes. If you don't see your doctor, these problems will go untreated. Your doctor can offer several new treatments for ED. For many men, the answer is as simple as taking a pill. Getting more exercise, losing weight, or stopping smoking may also help. NIH: National Institute of Diabetes and Digestive and Kidney Diseases </s>

<s>[INST] Human: What causes Progressive transformation of germinal centers ? [/INST] Assistant: What causes progressive transformation of germinal centers? Is it genetic? The cause of progressive transformation of germinal centers (PTGC) is currently unknown. Also, there is no evidence in the medical literature that PTGC is a genetic condition. </s>

<s>[INST] Human: What are the symptoms of Asthma ? [/INST] Assistant: Common signs and symptoms of asthma include: Coughing. Coughing from asthma often is worse at night or early in the morning, making it hard to sleep. Wheezing. Wheezing is a whistling or squeaky sound that occurs when you breathe. Chest tightness. This may feel like something is squeezing or sitting on your chest. Shortness of breath. Some people who have asthma say they can't catch their breath or they feel out of breath. You may feel like you can't get air out of your lungs. Not all people who have asthma have these symptoms. Likewise, having these symptoms doesn't always mean that you have asthma. The best way to diagnose asthma for certain is to use a lung function test, a medical history (including type and frequency of symptoms), and a physical exam. The types of asthma symptoms you have, how often they occur, and how severe they are may vary over time. Sometimes your symptoms may just annoy you. Other times, they may be troublesome enough to limit your daily routine. Severe symptoms can be fatal. It's important to treat symptoms when you first notice them so they don't become severe. With proper treatment, most people who have asthma can expect to have few, if any, symptoms either during the day or at night. What Causes Asthma Symptoms To Occur? Many things can trigger or worsen asthma symptoms. Your doctor will help you find out which things (sometimes called triggers) may cause your asthma to flare up if you come in contact with them. Triggers may include: Allergens from dust, animal fur, cockroaches, mold, and pollens from trees, grasses, and flowers Irritants such as cigarette smoke, air pollution, chemicals or dust in the workplace, compounds in home dcor products, and sprays (such as hairspray) Medicines such as aspirin or other nonsteroidal anti-inflammatory drugs and nonselective beta-blockers Sulfites in foods and drinks Viral upper respiratory infections, such as colds Physical activity, including exercise Other health conditions can make asthma harder to manage. Examples of these conditions include a runny nose, sinus infections, reflux disease, psychological stress, and sleep apnea. These conditions need treatment as part of an overall asthma care plan. Asthma is different for each person. Some of the triggers listed above may not affect you. Other triggers that do affect you may not be on the list. Talk with your doctor about the things that seem to make your asthma worse. </s>

<s>[INST] Human: What is (are) Varicose Veins ? [/INST] Assistant: 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 </s>

<s>[INST] Human: What to do for Hypoglycemia ? [/INST] Assistant: Two types of hypoglycemia can occur in people who do not have diabetes: - Reactive hypoglycemia, also called postprandial hypoglycemia, occurs within 4 hours after meals. - Fasting hypoglycemia, also called postabsorptive hypoglycemia, is often related to an underlying disease. Symptoms of both reactive and fasting hypoglycemia are similar to diabetes-related hypoglycemia. Symptoms may include hunger, sweating, shakiness, dizziness, light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness. To find the cause of a patient's hypoglycemia, the doctor will use laboratory tests to measure blood glucose, insulin, and other chemicals that play a part in the body's use of energy. Reactive Hypoglycemia Diagnosis To diagnose reactive hypoglycemia, the doctor may - ask about signs and symptoms - test blood glucose while the patient is having symptoms by taking a blood sample from the arm and sending it to a laboratory for analysis* - check to see whether the symptoms ease after the patient's blood glucose returns to 70 mg/dL or above after eating or drinking A blood glucose level below 70 mg/dL at the time of symptoms and relief after eating will confirm the diagnosis. The oral glucose tolerance test is no longer used to diagnose reactive hypoglycemia because experts now know the test can actually trigger hypoglycemic symptoms. Causes and Treatment The causes of most cases of reactive hypoglycemia are still open to debate. Some researchers suggest that certain people may be more sensitive to the body's normal release of the hormone epinephrine, which causes many of the symptoms of hypoglycemia. Others believe deficiencies in glucagon secretion might lead to reactive hypoglycemia. A few causes of reactive hypoglycemia are certain, but they are uncommon. Gastricor stomachsurgery can cause reactive hypoglycemia because of the rapid passage of food into the small intestine. Rare enzyme deficiencies diagnosed early in life, such as hereditary fructose intolerance, also may cause reactive hypoglycemia. To relieve reactive hypoglycemia, some health professionals recommend - eating small meals and snacks about every 3 hours - being physically active - eating a variety of foods, including meat, poultry, fish, or nonmeat sources of protein; starchy foods such as whole-grain bread, rice, and potatoes; fruits; vegetables; and dairy products - eating foods high in fiber - avoiding or limiting foods high in sugar, especially on an empty stomach The doctor can refer patients to a registered dietitian for personalized meal planning advice. Although some health professionals recommend a diet high in protein and low in carbohydrates, studies have not proven the effectiveness of this kind of diet to treat reactive hypoglycemia. Fasting Hypoglycemia Diagnosis Fasting hypoglycemia is diagnosed from a blood sample that shows a blood glucose level below 50 mg/dL after an overnight fast, between meals, or after physical activity. Causes and Treatment Causes of fasting hypoglycemia include certain medications, alcoholic beverages, critical illnesses, hormonal deficiencies, some kinds of tumors, and certain conditions occurring in infancy and childhood. Medications. Medications, including some used to treat diabetes, are the most common cause of hypoglycemia. Other medications that can cause hypoglycemia include - salicylates, including aspirin, when taken in large doses - sulfa medications, which are used to treat bacterial infections - pentamidine, which treats a serious kind of pneumonia - quinine, which is used to treat malaria If using any of these medications causes a person's blood glucose level to fall, the doctor may advise stopping the medication or changing the dose. Alcoholic beverages. Drinking alcoholic beverages, especially binge drinking, can cause hypoglycemia. The body's breakdown of alcohol interferes with the liver's efforts to raise blood glucose. Hypoglycemia caused by excessive drinking can be serious and even fatal. Critical illnesses. Some illnesses that affect the liver, heart, or kidneys can cause hypoglycemia. Sepsis, which is an overwhelming infection, and starvation are other causes of hypoglycemia. In these cases, treating the illness or other underlying cause will correct the hypoglycemia. Hormonal deficiencies. Hormonal deficiencies may cause hypoglycemia in very young children, but rarely in adults. Shortages of cortisol, growth hormone, glucagon, or epinephrine can lead to fasting hypoglycemia. Laboratory tests for hormone levels will determine a diagnosis and treatment. Hormone replacement therapy may be advised. Tumors. Insulinomas are insulin-producing tumors in the pancreas. Insulinomas can cause hypoglycemia by raising insulin levels too high in relation to the blood glucose level. These tumors are rare and do not normally spread to other parts of the body. Laboratory tests can pinpoint the exact cause. Treatment involves both short-term steps to correct the hypoglycemia and medical or surgical measures to remove the tumor. Conditions occurring in infancy and childhood. Children rarely develop hypoglycemia. If they do, causes may include the following: - Brief intolerance to fasting, often during an illness that disturbs regular eating patterns. Children usually outgrow this tendency by age 10. - Hyperinsulinism, which is the overproduction of insulin. This condition can result in temporary hypoglycemia in newborns, which is common in infants of mothers with diabetes. Persistent hyperinsulinism in infants or children is a complex disorder that requires prompt evaluation and treatment by a specialist. - Enzyme deficiencies that affect carbohydrate metabolism. These deficiencies can interfere with the body's ability to process natural sugars, such as fructose and galactose, glycogen, or other metabolites. - Hormonal deficiencies such as lack of pituitary or adrenal hormones. *A personal blood glucose monitor cannot be used to diagnose reactive hypoglycemia. </s>

<s>[INST] Human: Is autoimmune lymphoproliferative syndrome inherited ? [/INST] Assistant: In most people with ALPS, including the majority of those with FAS gene mutations, this condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually inherits the mutation from one affected parent. Other cases with an autosomal dominant pattern result from new (de novo) gene mutations that occur early in embryonic development in people with no history of the disorder in their family. In a small number of cases, including some cases caused by FAS gene mutations, ALPS is inherited in an autosomal recessive pattern, which means both copies of a 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. ALPS can also arise from a mutation in lymphocytes that is not inherited but instead occurs during an individual's lifetime. This alteration is called a somatic mutation. </s>

<s>[INST] Human: Is isolated ectopia lentis inherited ? [/INST] Assistant: When isolated ectopia lentis is caused by mutations in the FBN1 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 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. When isolated ectopia lentis is caused by mutations in the ADAMTSL4 gene, it 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. </s>

<s>[INST] Human: What are the treatments for Colorectal Cancer ? [/INST] Assistant: For surgery, the main side effects are short-term pain and tenderness around the area of the operation. For chemotherapy, the side effects depend on which drugs you take and what the dosages are. Most often the side effects include nausea, vomiting, and hair loss. For radiation therapy, fatigue, loss of appetite, nausea, and diarrhea may occur. There are many new drugs that have greatly reduced the degree of nausea that used to be experienced because of some of these treatments. </s>

<s>[INST] Human: What is (are) mitochondrial membrane protein-associated neurodegeneration ? [/INST] Assistant: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time. MPAN commonly begins with difficulty walking. As the condition progresses, affected individuals usually develop other movement problems, including muscle stiffness (spasticity) and involuntary muscle cramping (dystonia). Many people with MPAN have a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, involuntary trembling (tremors), and an inability to hold the body upright and balanced (postural instability). Other neurological problems that occur in individuals with MPAN include degeneration of the nerve cells that carry visual information from the eyes to the brain (optic atrophy), which can impair vision; problems with speech (dysarthria); difficulty swallowing (dysphagia); and, in later stages of the condition, an inability to control the bowels or the flow of urine (incontinence). Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, mood swings, hyperactivity, and depression. MPAN is characterized by an abnormal buildup of iron in certain regions of the brain. Because of these deposits, MPAN is considered part of a group of conditions known as neurodegeneration with brain iron accumulation (NBIA). </s>

<s>[INST] Human: What are the treatments for cleidocranial dysplasia ? [/INST] Assistant: These resources address the diagnosis or management of cleidocranial dysplasia: - Gene Review: Gene Review: Cleidocranial Dysplasia - Genetic Testing Registry: Cleidocranial dysostosis - MedlinePlus Encyclopedia: Cleidocranial dysostosis 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 </s>

<s>[INST] Human: What are the genetic changes related to Mowat-Wilson syndrome ? [/INST] Assistant: Mutations in the ZEB2 gene cause Mowat-Wilson syndrome. The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs. Mowat-Wilson syndrome almost always results from a loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome. </s>

<s>[INST] Human: What is the outlook for Plasma Cell Neoplasms (Including Multiple Myeloma) ? [/INST] Assistant: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The type of plasma cell neoplasm. - The stage of the disease. - Whether a certain immunoglobulin (antibody) is present. - Whether there are certain genetic changes. - Whether the kidney is damaged. - Whether the cancer responds to initial treatment or recurs (comes back). Treatment options depend on the following: - The type of plasma cell neoplasm. - The age and general health of the patient. - Whether there are signs, symptoms, or health problems, such as kidney failure or infection, related to the disease. - Whether the cancer responds to initial treatment or recurs (comes back). </s>

<s>[INST] Human: What are the symptoms of Charcot-Marie-Tooth disease type 2B ? [/INST] Assistant: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. 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 - Autoamputation (feet) - Autosomal dominant inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Dystrophic toenail - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Peripheral axonal atrophy - Pes cavus - Pes planus - Steppage gait - 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. </s>

<s>[INST] Human: What is (are) Valley Fever ? [/INST] Assistant: Valley Fever is a disease caused by a fungus (or mold) called Coccidioides. The fungi live in the soil of dry areas like the southwestern U.S. You get it from inhaling the spores of the fungus. The infection cannot spread from person to person. Anyone can get Valley Fever. But it's most common among older adults, especially those 60 and older. People who have recently moved to an area where it occurs are at highest risk for infection. Other people at higher risk include - Workers in jobs that expose them to soil dust. These include construction workers, agricultural workers, and military forces doing field training. - African Americans and Asians - Women in their third trimester of pregnancy - People with weak immune systems Valley Fever is often mild, with no symptoms. If you have symptoms, they may include a flu-like illness, with fever, cough, headache, rash, and muscle aches. Most people get better within several weeks or months. A small number of people may develop a chronic lung or widespread infection. Valley Fever is diagnosed by testing your blood, other body fluids, or tissues. Many people with the acute infection get better without treatment. In some cases, doctors may prescribe antifungal drugs for acute infections. Severe infections require antifungal drugs. Centers for Disease Control and Prevention </s>

<s>[INST] Human: What are the symptoms of Swyer-James syndrome ? [/INST] Assistant: What are the signs and symptoms of Swyer-James syndrome? Individuals with Swyer-James syndrome may not have any symptoms, but affected individuals can have chronic or recurring lung infections, shortness of breath (dyspnea) when performing an activity, coughing up of blood (hemoptysis), and even severe respiratory impairment. </s>

<s>[INST] Human: What to do for Intestinal Pseudo-obstruction ? [/INST] Assistant: - Intestinal pseudo-obstruction is a rare condition with symptoms that resemble those caused by a blockage, or obstruction, of the intestines, also called the bowel. However, when a health care provider examines the intestines, no blockage exists. Instead, the symptoms are due to nerve or muscle problems that affect the movement of food, fluid, and air through the intestines. - Intestinal pseudo-obstruction symptoms may include abdominal swelling or bloating, also called distension; abdominal pain; nausea; vomiting; constipation; and diarrhea. Over time, the condition can cause malnutrition, bacterial overgrowth in the intestines, and weight loss. - To diagnose intestinal pseudo-obstruction, a health care provider may suggest the person consult a gastroenterologista doctor who specializes in digestive diseases. A health care provider will perform a physical exam; take a complete medical history, imaging studies, and a biopsy; and perform blood tests. A health care provider may order other tests to confirm the diagnosis. - A health care provider will treat intestinal pseudo-obstruction with nutritional support, medications, and, in some cases, decompression. Rarely, a person will need surgery. If an illness, a medication, or both cause intestinal pseudo-obstruction, a health care provider will treat the underlying illness, stop the medication, or do both. A health care provider may recommend small intestine transplantation when all other treatments have failed. </s>

<s>[INST] Human: What are the symptoms of Spastic paraplegia neuropathy poikiloderma ? [/INST] Assistant: What are the signs and symptoms of Spastic paraplegia neuropathy poikiloderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia neuropathy poikiloderma. 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% Aplasia/Hypoplasia of the eyebrow 90% Aplasia/Hypoplasia of the skin 90% Decreased nerve conduction velocity 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Irregular hyperpigmentation 90% Skeletal muscle atrophy 90% Absent eyebrow - Absent eyelashes - Autosomal dominant inheritance - Demyelinating motor neuropathy - Demyelinating sensory neuropathy - Distal amyotrophy - Onion bulb formation - Poikiloderma - Spastic paraplegia - 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. </s>

<s>[INST] Human: What are the symptoms of Renal tubular dysgenesis ? [/INST] Assistant: What are the signs and symptoms of Renal tubular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular dysgenesis. 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 renal tubule 90% Aplasia/Hypoplasia of the lungs 90% Hypertelorism 90% Joint hypermobility 90% Polycystic kidney dysplasia 90% Polyhydramnios 90% Premature birth 90% Microcephaly 7.5% Nephropathy 7.5% Oligohydramnios 7.5% Single transverse palmar crease 7.5% Tetralogy of Fallot 7.5% Anuria - Autosomal recessive inheritance - Hypotension - Potter facies - Pulmonary hypoplasia - Renotubular dysgenesis - Respiratory insufficiency - Widely patent fontanelles and sutures - 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. </s>

<s>[INST] Human: What to do for Vesicoureteral Reflux ? [/INST] Assistant: Eating, diet, and nutrition have not been shown to play a role in causing or preventing VUR. </s>

<s>[INST] Human: What is (are) Dowling-Degos disease ? [/INST] Assistant: Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation do not darken with exposure to sunlight and cause no health problems. Individuals with Dowling-Degos disease may also have dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or depressed or pitted scars on the face similar to acne scars but with no history of acne. Cysts within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented). The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically cause no health problems. A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness. These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition. </s>

<s>[INST] Human: Is Ellis-van Creveld syndrome inherited ? [/INST] Assistant: 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. </s>

<s>[INST] Human: What is (are) Von Hippel-Lindau disease ? [/INST] Assistant: Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors. </s>

<s>[INST] Human: How many people are affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? [/INST] Assistant: The exact incidence of MELAS is unknown. It is one of the more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people. </s>

<s>[INST] Human: What are the genetic changes related to hypomagnesemia with secondary hypocalcemia ? [/INST] Assistant: Hypomagnesemia with secondary hypocalcemia is caused by mutations in the TRPM6 gene. This gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to pass into cells. Magnesium is involved in many cell processes, including production of cellular energy, maintenance of DNA building blocks (nucleotides), protein production, and cell growth and death. Magnesium and calcium are also required for the normal functioning of nerve cells that control muscle movement (motor neurons). The TRPM6 channel is embedded in the membrane of epithelial cells that line the large intestine, structures in the kidneys known as distal convoluted tubules, the lungs, and the testes in males. When the body needs additional Mg2+, the TRPM6 channel allows it to be absorbed in the intestine and filtered from the fluids that pass through the kidneys by the distal convoluted tubules. When the body has sufficient or too much Mg2+, the TRPM6 channel does not filter out the Mg2+ from fluids but allows the ion to be released from the kidney cells into the urine. The channel also helps to regulate Ca2+, but to a lesser degree. Most TRPM6 gene mutations that cause hypomagnesemia with secondary hypocalcemia result in a lack of functional protein. A loss of functional TRPM6 channels prevent Mg2+ absorption in the intestine and cause excessive amounts of Mg2+ to be excreted by the kidneys and released in the urine. A lack of Mg2+ in the body impairs the production of parathyroid hormone, which likely reduces blood Ca2+ levels. Additionally, hypomagnesemia and hypocalcemia can disrupt many cell processes and impair the function of motor neurons, leading to neurological problems and movement disorders. If the condition is not effectively treated and low Mg2+ levels persist, signs and symptoms can worsen over time and may lead to early death. </s>

<s>[INST] Human: How many people are affected by aromatase excess syndrome ? [/INST] Assistant: The prevalence of aromatase excess syndrome is unknown; more than 20 cases have been described in the medical literature. </s>

<s>[INST] Human: What causes Steatocystoma multiplex ? [/INST] Assistant: What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is due to a gene mutation that was not inherited, but occurred for the first time in the affected individual. A sporadic condition may also be non-genetic and occur by chance, in which case it is not likely to recur in a family. In many sporadic cases of steatocystoma multiplex, mutations in the KRT17 gene have not been identified. Cases of steatocystoma multiplex have also been reported in association with pachyonychia congenita, acrokeratosis verruciformis, hypertrophic lichen planus, hypohidrosis, hidradenitis suppurativa, and natal teeth. </s>

<s>[INST] Human: What are the treatments for What I need to know about Kidney Failure and How Its Treated ? [/INST] Assistant: Conservative management means your doctors take care of you without dialysis or a transplant. The doctors may give you medicines that make you feel more comfortable. You can have conservative management in your home. You may want to go to a hospice, a special place where you receive nursing care. Some people choose conservative management when dialysis or a transplant would not help them live longer or would make them suffer longer. Without dialysis or a transplant, you may live for a few weeks or several months. </s>

<s>[INST] Human: What is (are) Spondylospinal thoracic dysostosis ? [/INST] Assistant: Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth. This condition is believed to be inherited in an autosomal recessive manner. It does not appear to be compatible with life. </s>

<s>[INST] Human: Do you have information about Climate Change [/INST] Assistant: Summary : Climate is the average weather in a place over a period of time. Climate change is major change in temperature, rainfall, snow, or wind patterns lasting for many years. It can be caused by natural factors or by human activities. Today climate changes are occurring at an increasingly rapid rate. Climate change can affect our health. It can lead to - More heat-related illness and deaths - More pollen, mold, and air pollution. This can cause an increase in allergies, asthma, and breathing problems. - Mosquitoes and other insects that carry diseases spreading to areas that used to be too cold for them. - More floods and rising sea levels. This can cause an increase in contamination of food and water. - More extreme weather events, such as hurricanes and wildfires. These can cause death, injuries, stress, and mental health problems. Researchers are studying the best ways to lessen climate change and reduce its impact on our health. NIH: National Institute of Environmental Health Sciences </s>

<s>[INST] Human: Is autosomal recessive hyper-IgE syndrome inherited ? [/INST] Assistant: 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. </s>

<s>[INST] Human: What is (are) neuroferritinopathy ? [/INST] Assistant: Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent on one side of the body than on the other. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is unaffected in most people with neuroferritinopathy, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. </s>

<s>[INST] Human: What is (are) Insomnia ? [/INST] Assistant: Insomnia is a common sleep disorder. If you have it, you may have trouble falling asleep, staying asleep, or both. As a result, you may get too little sleep or have poor-quality sleep. You may not feel refreshed when you wake up. Symptoms of insomnia include: - Lying awake for a long time before you fall asleep - Sleeping for only short periods - Being awake for much of the night - Feeling as if you haven't slept at all - Waking up too early Your doctor will diagnose insomnia based on your medical and sleep histories and a physical exam. He or she also may recommend a sleep study. A sleep study measures how well you sleep and how your body responds to sleep problems. Treatments include lifestyle changes, counseling, and medicines. NIH: National Heart, Lung, and Blood Institute </s>

<s>[INST] Human: What is (are) Takayasu arteritis ? [/INST] Assistant: Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impaired blood flow causes damage to the heart and various other organs of the body. Although the cause remains unknown, Takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues. </s>

<s>[INST] Human: What are the symptoms of Multiple pterygium syndrome X-linked ? [/INST] Assistant: What are the signs and symptoms of Multiple pterygium syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome X-linked. 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 cervical curvature - Abnormal facial shape - Amyoplasia - Cleft palate - Cleft upper lip - Cystic hygroma - Depressed nasal ridge - Edema - Epicanthus - Fetal akinesia sequence - Flexion contracture - Hypertelorism - Hypoplastic heart - Increased susceptibility to fractures - Intrauterine growth retardation - Joint dislocation - Low-set ears - Malignant hyperthermia - Multiple pterygia - Polyhydramnios - Pulmonary hypoplasia - Short finger - Thin ribs - Vertebral fusion - 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. </s>

<s>[INST] Human: What is (are) phosphoglycerate dehydrogenase deficiency ? [/INST] Assistant: Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been described; they are distinguished by their severity and the age at which symptoms first begin. Most affected individuals have the infantile form, which is the most severe form, and are affected from infancy. Symptoms of the juvenile and adult types appear later in life; these types are very rare. In phosphoglycerate dehydrogenase deficiency there is a progressive loss of brain cells leading to a loss of brain tissue (brain atrophy), specifically affecting the fatty tissue known as myelin that surrounds nerve cells (hypomyelination). Frequently, the tissue that connects the two halves of the brain (corpus callosum) is small and thin, and the fluid-filled cavities (ventricles) near the center of the brain are enlarged. Because development of the brain is disrupted, the head does not grow at the same rate as the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Poor brain growth leads to an inability to achieve many developmental milestones such as sitting unsupported and speaking. Many affected infants also have difficulty feeding. The seizures in phosphoglycerate dehydrogenase deficiency can vary in type. Recurrent muscle contractions called infantile spasms are typical early in the disorder. Without early treatment, seizures may progress to tonic-clonic seizures, which involve a loss of consciousness, muscle rigidity, and convulsions; myoclonic seizures, which involve rapid, uncontrolled muscle jerks; or drop attacks, which are sudden episodes of weak muscle tone. Individuals with the infantile form of phosphoglycerate dehydrogenase deficiency develop many of the features described above. Individuals with the juvenile form typically have epilepsy as well as mild developmental delay and intellectual disability. Only one case of the adult form has been reported; signs and symptoms began in mid-adulthood and included mild intellectual disability; difficulty coordinating movements (ataxia); and numbness, tingling, and pain in the arms and legs (sensory neuropathy). </s>

<s>[INST] Human: What are the symptoms of EEC syndrome ? [/INST] Assistant: What are the signs and symptoms of EEC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for EEC 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 dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Coarse hair 90% Dry skin 90% Lacrimation abnormality 90% Reduced number of teeth 90% Taurodontia 90% Thick eyebrow 90% Aplasia/Hypoplasia of the skin 50% Corneal erosion 50% Inflammatory abnormality of the eye 50% Renal hypoplasia/aplasia 50% Slow-growing hair 50% Abnormality of the eyelid 7.5% Abnormality of the middle ear 7.5% Anterior hypopituitarism 7.5% Aplasia/Hypoplasia of the nipples 7.5% Aplasia/Hypoplasia of the thumb 7.5% Aplasia/Hypoplasia of the thymus 7.5% Breast aplasia 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% External ear malformation 7.5% Fine hair 7.5% Finger syndactyly 7.5% Hypohidrosis 7.5% Lymphoma 7.5% Proximal placement of thumb 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Intellectual disability 7% Abnormality of the nasopharynx - Absence of Stensen duct - Anal atresia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicornuate uterus - Bladder diverticulum - Blepharitis - Blepharophimosis - Blue irides - Broad nasal tip - Carious teeth - Central diabetes insipidus - Choanal atresia - Cleft palate - Cleft upper lip - Coarse facial features - Conductive hearing impairment - Cryptorchidism - Dacrocystitis - Death in infancy - Depressed nasal bridge - Depressed nasal tip - Duplicated collecting system - Ectodermal dysplasia - Fair hair - Flexion contracture - Frontal bossing - Generalized hypopigmentation - Growth hormone deficiency - Hand polydactyly - Hearing impairment - Heterogeneous - High axial triradius - Hoarse voice - Hydronephrosis - Hydroureter - Hyperkeratosis - Hypertelorism - Hypogonadotrophic hypogonadism - Hypoplasia of the maxilla - Hypoplastic fingernail - Hypoplastic nipples - Inguinal hernia - Malar flattening - Microcephaly - Microdontia - Micropenis - Microtia - Nail dystrophy - Nail pits - Oligodontia - Ovarian cyst - Photophobia - Prominent forehead - Rectovaginal fistula - Recurrent respiratory infections - Renal agenesis - Renal dysplasia - Selective tooth agenesis - Semilobar holoprosencephaly - Short digit - Single transverse palmar crease - Sparse axillary hair - Sparse eyebrow - Sparse eyelashes - Sparse pubic hair - Sparse scalp hair - Split foot - Split hand - Telecanthus - Thin skin - Toe syndactyly - Transverse vaginal septum - Ureterocele - Ureterovesical stenosis - Vesicoureteral reflux - Xerostomia - 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. </s>

<s>[INST] Human: What is the outlook for Childhood Craniopharyngioma ? [/INST] Assistant: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The size of the tumor. - Where the tumor is in the brain. - Whether there are tumor cells left after surgery. - The child's age. - Side effects that may occur months or years after treatment. - Whether the tumor has just been diagnosed or has recurred (come back). </s>

<s>[INST] Human: What are the genetic changes related to Krabbe disease ? [/INST] Assistant: Mutations in the GALC gene cause Krabbe disease. These mutations cause a deficiency of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of myelin that covers many nerves. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and symptoms of Krabbe disease. </s>

<s>[INST] Human: What are the symptoms of Chronic Fatigue Syndrome (CFS) ? [/INST] Assistant: Chronic fatigue syndrome can be misdiagnosed or overlooked because its symptoms are similar to so many other illnesses. Fatigue, for instance, can be a symptom for hundreds of illnesses. Looking closer at the nature of the symptoms though, can help a doctor distinguish CFS from other illnesses. Primary Symptoms As the name chronic fatigue syndrome suggests, fatigue is one part of this illness. With CFS, however, the fatigue is accompanied by other symptoms. In addition, the fatigue is not the kind you might feel after a particularly busy day or week, after a sleepless night, or after a single stressful event. It's a severe, incapacitating fatigue that isn't improved by bed rest and that is often worsened by physical activity or mental exertion. It's an all-encompassing fatigue that can dramatically reduce a person's activity level and stamina. People with CFS function at a significantly lower level of activity than they were capable of before they became ill. The illness results in a substantial reduction in work-related, personal, social, and educational activities. The fatigue of CFS is accompanied by characteristic illness symptoms lasting at least 6 months. These symptoms include: - increased malaise (extreme exhaustion and sickness) following physical activity or mental exertion - problems with sleep - difficulties with memory and concentration - persistent muscle pain - joint pain (without redness or swelling) - headache - tender lymph nodes in the neck or armpit - sore throat Other Symptoms The symptoms listed above are the symptoms used to diagnose CFS. However, many CFS patients and patients in general may experience other symptoms, including: - brain fog (feeling like you're in a mental fog) - difficulty maintaining an upright position, dizziness, balance problems or fainting - allergies or sensitivities to foods, odors, chemicals, medications, or noise - irritable bowel - chills and night sweats - visual disturbances (sensitivity to light, blurring, eye pain) - depression or mood problems (irritability, mood swings, anxiety, panic attacks) It's important to tell your health care professional if you're experiencing any of these symptoms. You might have CFS, or you might have another treatable disorder. Only a health care professional can diagnose CFS. What's the Clinical Course of CFS? The severity of CFS varies from patient to patient. Some people can maintain fairly active lives. For most patients, however, CFS significantly limits their work, school, and family activities for periods of time. While symptoms vary from person to person in number, type, and severity, all CFS patients are limited in what they can do to some degree. CDC studies show that CFS can be as disabling as multiple sclerosis, lupus, rheumatoid arthritis, heart disease, end-stage renal disease, chronic obstructive pulmonary disease (COPD), and similar chronic conditions. CFS often affects patients in cycles: Patients will have periods of illness followed by periods of relative well-being. For some patients, symptoms may diminish or even go into complete remission; however, they often recur at a later point in time. This pattern of remission and relapse makes CFS especially hard for patients to manage. Patients who are in remission may be tempted to overdo activities when they're feeling better, but this overexertion may actually contribute to a relapse. The percentage of CFS patients who recover is unknown, but there is some evidence to indicate that patients benefit when accompanying conditions are identified and treated and when symptoms are managed. High-quality health care is important. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Lip and Oral Cavity Cancer ? [/INST] Assistant: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Hyperfractionated radiation therapy Hyperfractionated radiation therapy is radiation treatment in which the total dose of radiation is divided into small doses and the treatments are given more than once a day. Hyperthermia therapy Hyperthermia therapy is a treatment in which body tissue is heated above normal temperature to damage and kill cancer cells or to make cancer cells more sensitive to the effects of radiation and certain anticancer drugs. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. </s>

<s>[INST] Human: What are the treatments for keratoderma with woolly hair ? [/INST] Assistant: These resources address the diagnosis or management of keratoderma with woolly hair: - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11 - Genetic Testing Registry: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis - Genetic Testing Registry: Naxos disease - Genetic Testing Registry: Palmoplantar keratoderma and woolly hair - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Diagnosed? - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Treated? 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 </s>

<s>[INST] Human: What is (are) Neuroleptic malignant syndrome ? [/INST] Assistant: Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high fever, muscle stiffness, sweating, unstable blood pressure, altered mental status, and autonomic dysfunction. In most cases, the condition develops within the first 2 weeks of treatment with the drug; however, it may develop any time during the therapy period. The exact underlying cause of neuroleptic malignant syndrome is unknown. In some cases, more than one family member can be affected which suggests there may be a genetic component. Upon diagnosis of the condition, the neuroleptic or antipsychotic drug is generally discontinued under a physician's supervision. Medications and/or other interventions may also be recommended to manage symptoms. </s>

<s>[INST] Human: What are the treatments for fragile X syndrome ? [/INST] Assistant: These resources address the diagnosis or management of fragile X syndrome: - Gene Review: Gene Review: FMR1-Related Disorders - GeneFacts: Fragile X Syndrome: Diagnosis - GeneFacts: Fragile X Syndrome: Management - Genetic Testing Registry: Fragile X syndrome - MedlinePlus Encyclopedia: Fragile X 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 </s>

<s>[INST] Human: What is (are) Focal dystonia ? [/INST] Assistant: Focal dystonia is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. Focal task-specific dystonia, or FTSD, interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Additionally, FTSD has been reported in tailors, shoemakers, hair stylists, and people who frequently type or use a computer mouse. While the abnormal movements associated with focal dystonia are usually painless, they can cause high levels of anxiety. The causes of focal dystonia are unknown, although the disorder likely results from a combination of genetic and environmental factors. It is possible that the different forms of FTSD have different underlying causes. Researchers have found that at least some cases are related to malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement. Most cases of focal dystonia are sporadic, which means they occur in people with no history of the condition in their family. However, at least 10 percent of affected individuals have a family history which seems to follow an autosomal dominant pattern of inheritance. </s>

<s>[INST] Human: Is gray platelet syndrome inherited ? [/INST] Assistant: When gray platelet syndrome is caused by NBEAL2 gene mutations, it has an autosomal recessive pattern of inheritance, 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 altered gene in each cell. Gray platelet syndrome can also be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. An affected person often inherits the condition from one affected parent. Researchers are working to determine which gene or genes are associated with the autosomal dominant form of gray platelet syndrome. </s>

<s>[INST] Human: What is (are) Parasites - Paragonimiasis (also known as Paragonimus Infection) ? [/INST] Assistant: Frequently Asked Queestions (FAQs) </s>

<s>[INST] Human: What are the symptoms of Brachydactyly type A5 ? [/INST] Assistant: What are the signs and symptoms of Brachydactyly type A5? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A5. 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% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Brachydactyly syndrome 90% Proximal placement of thumb 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Finger syndactyly 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 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. </s>