umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Primary carnitine deficiency ?

Answer: How might primary carnitine deficiency be treated? Most individuals with primary carnitine deficiency are followed by a metabolic doctor as well as a dietician familiar with this condition. Certain treatments may be advised for some children but not others. Treatment is often needed throughout life. The main treatment for this condition is lifelong use of L-carnitine, which is a natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. L-carnitine can reverse the heart problems and muscle weakness caused by this condition. In addition to L-carnitine, infants and young children with primary carnitine deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours. But some babies need to eat even more frequently than this. Many teens and adults with this condition can go without food for up to 12 hours without problems. Some children and teens benefit from a low-fat, high carbohydrate diet. Any diet changes should be made under the guidance of a metabolic specialist and/or dietician familiar with this condition. Ask your doctor whether your child needs to have any changes in his or her diet. Other treatments usually need to be continued throughout life. Infants and children with this condition need to eat extra starchy food and drink more fluids during any illness, even if they may not feel hungry, because they could have a metabolic crisis. Children who are sick often do not want to eat. If they wont or cant eat, they may need to be treated in the hospital to prevent serious health problems.
Question: How to prevent Heart Failure ?

Answer: You can take steps to prevent heart failure. The sooner you start, the better your chances of preventing or delaying the condition.
                
For People Who Have Healthy Hearts
                
If you have a healthy heart, you can take action to prevent heart disease and heart failure. To reduce your risk of heart disease:
                
Avoid using illegal drugs.
                
Be physically active. The more active you are, the more you will benefit.
                
Follow a heart-healthy eating plan.
                
If yousmoke, make an effort to quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.
                
Maintain a healthy weight. Work with your health care team to create a reasonable weight-loss plan.
                
For People Who Are at High Risk for Heart Failure
                
Even if youre at high risk for heart failure, you can take steps to reduce your risk. People at high risk include those who have coronary heart disease,high blood pressure, ordiabetes.
                
Follow all of the steps listed above. Talk with your doctor about what types and amounts of physical activity are safe for you.
                
Treat and control any conditions that can cause heart failure. Take medicines as your doctor prescribes.
                
Avoid drinking alcohol.
                
See your doctor for ongoing care.
                
For People Who Have Heart Damage but No Signs of Heart Failure
                
If you have heart damage but no signs of heart failure, you can still reduce your risk of developing the condition. In addition to the steps above, take your medicines as prescribed to reduce your hearts workload.
Question: What is (are) juvenile Batten disease ?

Answer: Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures.  Vision impairment is often the first noticeable sign of juvenile Batten disease, beginning between the ages of 4 and 8 years. Vision loss tends to progress rapidly, eventually resulting in blindness.  After vision impairment has begun, children with juvenile Batten disease experience the loss of previously acquired skills (developmental regression), usually beginning with the ability to speak in complete sentences. Affected children also have difficulty learning new information. In addition to the intellectual decline, affected children lose motor skills such as the ability to walk or sit. They also develop movement abnormalities that include rigidity or stiffness, slow or diminished movements (hypokinesia), and stooped posture. Affected children may have recurrent seizures (epilepsy), heart problems, behavioral problems, difficulty sleeping, and problems with attention that begin in mid- to late childhood. Most people with juvenile Batten disease live into their twenties or thirties.  Juvenile Batten disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). These disorders all affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear. Some people refer to the entire group of NCLs as Batten disease, while others limit that designation to the juvenile form of the disorder.
Question: What is (are) otopalatodigital syndrome type 1 ?

Answer: Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).  Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital spectrum disorders. People with this condition usually have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; and a small, flat nose. Affected individuals also have hearing loss and chest deformities. They have abnormalities of the fingers and toes, such as blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; and unusually long second toes.  Affected individuals may be born with an opening in the roof of the mouth (a cleft palate). They may have mildly bowed limbs, and limited range of motion in some joints. People with otopalatodigital syndrome type 1 may be somewhat shorter than other members of their family. Males with this disorder often have more severe signs and symptoms than do females, who may show only the characteristic facial features.
Question: What is (are) infantile systemic hyalinosis ?

Answer: Infantile systemic hyalinosis is a disorder that severely affects many areas of the body, including the skin, joints, bones, and internal organs. Hyalinosis refers to the abnormal accumulation of a clear (hyaline) substance in body tissues. The signs and symptoms of this condition are present at birth or develop within the first few months of life. Infantile systemic hyalinosis is characterized by painful skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. They also develop in joint creases and the genital region. These skin bumps may be large or small and often increase in number over time.  Lumps of noncancerous tissue also form in the muscles and internal organs of children with infantile systemic hyalinosis, causing pain and severe complications. Most affected individuals develop a condition called protein-losing enteropathy due to the formation of lumps in their intestines. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia).  Infantile systemic hyalinosis is also characterized by overgrowth of the gums (gingival hypertrophy). Additionally, people with this condition have joint deformities (contractures) that impair movement. Affected individuals may grow slowly and have bone abnormalities.  Although children with infantile systemic hyalinosis have severe physical limitations, mental development is typically normal. Affected individuals often do not survive beyond early childhood due to chronic diarrhea and recurrent infections.
Question: What are the genetic changes related to fibronectin glomerulopathy ?

Answer: Fibronectin glomerulopathy can be caused by mutations in the FN1 gene. The FN1 gene provides instructions for making the fibronectin-1 protein. Fibronectin-1 is involved in the continual formation of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. During extracellular matrix formation, fibronectin-1 helps individual cells expand (spread) and move (migrate) to cover more space, and it also influences cell shape and maturation (differentiation).  FN1 gene mutations lead to production of an abnormal fibronectin-1 protein that gets deposited in the glomeruli of the kidneys, probably as the body attempts to filter it out as waste. Even though there is an abundance of fibronectin-1 in the glomeruli, the extracellular matrix that supports the blood vessels is weak because the altered fibronectin-1 cannot assist in the matrix's continual formation. Without a strong cellular support network, the glomeruli are less able to filter waste. As a result, products that normally are retained by the body, such as protein and blood, get released in the urine, and acids are not properly filtered from the blood. Over time, the kidneys' ability to filter waste decreases until the kidneys can no longer function, resulting in end-stage renal disease.  It is estimated that mutations in the FN1 gene are responsible for 40 percent of cases of fibronectin glomerulopathy. The cause of the remaining cases of this condition is unknown.
Question: How to diagnose Hypothyroidism ?

Answer: Many symptoms of hypothyroidism are the same as those of other diseases, so hypothyroidism usually cannot be diagnosed based on symptoms alone. With suspected hypothyroidism, health care providers take a medical history and perform a thorough physical examination. Health care providers may then use several blood tests to confirm a diagnosis of hypothyroidism and find its cause:
                
TSH test. The ultrasensitive TSH test is usually the first test a health care provider performs. This test detects even tiny amounts of TSH in the blood and is the most accurate measure of thyroid activity available. Generally, a TSH reading above normal means a person has hypothyroidism and a reading below normal means a person has hyperthyroidism.
                
Mildly elevated TSH without symptoms indicates subclinical hypothyroidism. Some health care providers treat subclinical hypothyroidism immediately. Others prefer to leave it untreated but monitor their patients for signs that the condition is worsening.
                
Health care providers may conduct additional tests to help confirm the diagnosis or determine the cause of hypothyroidism.
                
T4 test. This test measures the actual amount of circulating thyroid hormone in the blood. In hypothyroidism, the level of T4 in the blood is lower than normal.
                
Thyroid autoantibody test. This test looks for the presence of thyroid autoantibodies. Most people with Hashimotos disease have these antibodies, but people whose hypothyroidism is caused by other conditions do not.
                
More information about testing for thyroid problems is provided in the NIDDK health topic, Thyroid Tests.
Question: What are the treatments for Lung Cancer ?

Answer: - Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. - Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area.
Question: How to prevent Heart Failure ?

Answer: Ways to prevent heart failure include - keeping your cholesterol and blood pressure levels healthy  - keeping diabetes in check   - maintaining a healthy weight   - quitting smoking   - following a heart healthy diet  - limiting the amount of alcohol you drink   - eating a diet low in salt because salt can cause extra fluid to build up in your body and also contribute to high blood pressure. Older adults should limit their sodium (salt) intake to1500 mg a day (about 2/3 tsp of salt).   - getting regular exercise. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information about exercises that older adults can do safely, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.  keeping your cholesterol and blood pressure levels healthy keeping diabetes in check maintaining a healthy weight quitting smoking following a heart healthy diet limiting the amount of alcohol you drink eating a diet low in salt because salt can cause extra fluid to build up in your body and also contribute to high blood pressure. Older adults should limit their sodium (salt) intake to1500 mg a day (about 2/3 tsp of salt). getting regular exercise. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information about exercises that older adults can do safely, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.
Question: What is the outlook for Childhood Liver Cancer ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for hepatoblastoma depend on the following:          - The PRETEXT or POSTTEXT group.    - Whether the cancer has spread to other places in the body, such as the lungs or certain large blood vessels.     - Whether the cancer can be removed completely by surgery.    - How the cancer responds to chemotherapy.    - How the cancer cells look under a microscope.    - Whether the AFP blood levels go down after treatment.    - Whether the cancer has just been diagnosed or has recurred.     - Age of the child.        The prognosis (chance of recovery) and treatment options for hepatocellular carcinoma depend on the following:         - The PRETEXT or POSTTEXT group.    - Whether the cancer has spread to other places in the body, such as the lungs.     - Whether the cancer can be removed completely by surgery.    - How the cancer responds to chemotherapy.    - How the cancer cells look under a microscope.    - Whether the child has hepatitis B infection.    - Whether the cancer has just been diagnosed or has recurred.         For childhood liver cancer that recurs (comes back) after initial treatment, the prognosis and treatment options depend on:         - Where in the body the tumor recurred.    - The type of treatment used to treat the initial cancer.        Childhood liver cancer may be cured if the tumor is small and can be completely removed by surgery. Complete removal is possible more often for hepatoblastoma than for hepatocellular carcinoma.
Question: What are the symptoms of Choroideremia ?

Answer: What are the signs and symptoms of Choroideremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroideremia. 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 electroretinogram 90% Abnormality of retinal pigmentation 90% Myopia 90% Nyctalopia 90% Visual impairment 90% Chorioretinal atrophy - Chorioretinal degeneration - Choroideremia - Constriction of peripheral visual field - Progressive visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate ?

Answer: What are the signs and symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly and ectodermal dysplasia without cleft lip/palate. 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 teeth - Autosomal dominant inheritance - Ectodermal dysplasia - Hypotrichosis - Split foot - 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.
Question: What are the symptoms of Hydrocephalus obesity hypogonadism ?

Answer: What are the signs and symptoms of Hydrocephalus obesity hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus obesity hypogonadism. 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) Cognitive impairment 90% Cryptorchidism 90% Hydrocephalus 90% Hypoplasia of penis 90% Obesity 90% Short stature 90% Respiratory insufficiency 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Welander distal myopathy, Swedish type ?

Answer: What are the signs and symptoms of Welander distal myopathy, Swedish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Welander distal myopathy, Swedish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myopathy 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Distal amyotrophy - Distal muscle weakness - Mildly elevated creatine phosphokinase - Rimmed vacuoles - Slow progression - 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.