umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Oculocutaneous albinism type 2 ?

Answer: What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism 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) Ocular albinism 90% Freckling 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Melanoma 7.5% Neoplasm of the skin 7.5% Strabismus 7.5% Albinism - Autosomal recessive inheritance - Blue irides - Freckles in sun-exposed areas - Hypopigmentation of the fundus - Hypoplasia of the fovea - Red hair - Reduced visual acuity - 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: Is Joubert syndrome inherited ?

Answer: How is Joubert syndrome inherited? Joubert syndrome is predominantly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. In rare cases, when Joubert syndrome is caused by mutations in the OFD1 gene on the X chromosome, it is inherited in an X-linked recessive manner. X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a mutation on one X chromosome, they still have a working copy of the gene on their other X chromosome and are typically unaffected. While females can have an X-linked recessive condition, it is very rare. If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex. Each male child has a 50% chance to be unaffected, and a 50% chance to be affected Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers.
Question: What are the symptoms of Malonyl-CoA decarboxylase deficiency ?

Answer: What are the signs and symptoms of Malonyl-CoA decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Malonyl-CoA decarboxylase 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) Cognitive impairment 90% Abnormality of the cardiovascular system 50% Constipation 50% Hypoglycemia 50% Muscular hypotonia 50% Seizures 50% Pachygyria 5% Abdominal pain - Autosomal recessive inheritance - Chronic constipation - Diarrhea - Hypertrophic cardiomyopathy - Ketosis - Lactic acidosis - Metabolic acidosis - Short stature - Vomiting - 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 treatments for Pernicious Anemia ?

Answer: Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia may need lifelong treatment.
                
The goals of treating pernicious anemia include:
                
Preventing or treating the anemia and its signs and symptoms
                
Preventing or managing complications, such as heart and nerve damage
                
Treating the cause of the pernicious anemia (if a cause can be found)
                
Specific Types of Treatment
                
Pernicious anemia usually is easy to treat with vitamin B12 shots or pills.
                
If you have severe pernicious anemia, your doctor may recommend shots first. Shots usually are given in a muscle every day or every week until the level of vitamin B12 in your blood increases. After your vitamin B12 blood level returns to normal, you may get a shot only once a month.
                
For less severe pernicious anemia, your doctor may recommend large doses of vitamin B12 pills. A vitamin B12 nose gel and spray also are available. These products may be useful for people who have trouble swallowing pills, such as older people who have had strokes.
                
Your signs and symptoms may begin to improve within a few days after you start treatment. Your doctor may advise you to limit your physical activity until your condition improves.
                
If your pernicious anemia is caused by something other than a lack of intrinsic factor, you may get treatment for the cause (if a cause can be found). For example, your doctor may prescribe medicines to treat a condition that prevents your body from absorbing vitamin B12.
                
If medicines are the cause of your pernicious anemia, your doctor may change the type or dose of medicine you take. Infants of strict vegetarian mothers may be given vitamin B12 supplements from birth.
Question: Who is at risk for Varicose Veins? ?

Answer: Many factors may raise your risk for varicose veins, including family history, older age, gender, pregnancy, overweight or obesity, lack of movement, and leg trauma.
                
Family History
                
Having family members who have varicose veins may raise your risk for the condition. About half of all people who have varicose veins have a family history of them.
                
Older Age
                
Getting older may raise your risk for varicose veins. The normal wear and tear of aging may cause the valves in your veins to weaken and not work well.
                
Gender
                
Women tend to get varicose veins more often than men. Hormonal changes that occur during puberty, pregnancy, and menopause (or with the use of birth control pills) may raise a woman's risk for varicose veins.
                
Pregnancy
                
During pregnancy, the growing fetus puts pressure on the veins in the mother's legs. Varicose veins that occur during pregnancy usually get better within 3 to 12 months of delivery.
                
Overweight or Obesity
                
Being overweight or obese can put extra pressure on your veins. This can lead to varicose veins. For more information about overweight and obesity, go to the Health Topics Overweight and Obesity article.
                
Lack of Movement
                
Standing or sitting for a long time, especially with your legs bent or crossed, may raise your risk for varicose veins. This is because staying in one position for a long time may force your veins to work harder to pump blood to your heart.
                
Leg Trauma
                
Previous blood clots or traumatic damage to the valves in your veins can weaken their ability to move blood back to the heart, increasing the risk for varicose veins.
Question: What is the outlook for Oxygen Therapy ?

Answer: During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away.
                
While you're in the hospital, your doctor will check on you to make sure you're getting the right amount of oxygen. Nurses or respiratory therapists also may assist with the oxygen therapy.
                
If you're having oxygen therapy at home, a home equipment provider will help you set up the oxygen therapy equipment at your house.
                
Trained staff will show you how to use and take care of the equipment. They'll supply the oxygen and teach you how to safely handle it.
                
Because oxygen poses a fire risk, you'll need to take certain safety steps. Oxygen isn't explosive, but it can worsen a fire. In the presence of oxygen, a small fire can quickly get out of control. Also, the cylinder that compressed oxygen gas comes in can explode if it's exposed to heat.
                
Your home equipment provider will give you a complete list of safety steps that you'll need to follow at home and in public. For example, while on oxygen, you should:
                
Never smoke or be around people who are smoking
                
Never use paint thinners, cleaning fluids, gasoline, aerosol sprays, and other flammable materials
                
Stay at least 5 feet away from gas stoves, candles, and other heat sources
                
When you're not using the oxygen, keep it in a large, airy room. Never store compressed oxygen gas cylinders and liquid oxygen containers in small, enclosed places, such as in closets, behind curtains, or under clothes.
                
Oxygen containers let off small amounts of oxygen. These small amounts can build up to harmful levels if they're allowed to escape into small spaces.
Question: What is (are) leukocyte adhesion deficiency type 1 ?

Answer: Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from birth, people with leukocyte adhesion deficiency type 1 develop serious bacterial and fungal infections.  One of the first signs of leukocyte adhesion deficiency type 1 is a delay in the detachment of the umbilical cord stump after birth. In newborns, the stump normally falls off within the first two weeks of life; but, in infants with leukocyte adhesion deficiency type 1, this separation usually occurs at three weeks or later. In addition, affected infants often have inflammation of the umbilical cord stump (omphalitis) due to a bacterial infection.  In leukocyte adhesion deficiency type 1, bacterial and fungal infections most commonly occur on the skin and mucous membranes such as the moist lining of the nose and mouth. In childhood, people with this condition develop severe inflammation of the gums (gingivitis) and other tissue around the teeth (periodontitis), which often results in the loss of both primary and permanent teeth. These infections often spread to cover a large area. A hallmark of leukocyte adhesion deficiency type 1 is the lack of pus formation at the sites of infection. In people with this condition, wounds are slow to heal, which can lead to additional infection.  Life expectancy in individuals with leukocyte adhesion deficiency type 1 is often severely shortened. Due to repeat infections, affected individuals may not survive past infancy.
Question: What to do for IgA Nephropathy ?

Answer: Researchers have not found that eating, diet, and nutrition play a role in causing or preventing IgA nephropathy. Health care providers may recommend that people with kidney disease, such as IgA nephropathy, make dietary changes such as
                
- limiting dietary sodium, often from salt, to help reduce edema and lower blood pressure  - decreasing liquid intake to help reduce edema and lower blood pressure  - eating a diet low in saturated fat and cholesterol to help control high levels of lipids, or fats, in the blood
                
Health care providers may also recommend that people with kidney disease eat moderate or reduced amounts of protein, although the benefit of reducing protein in a persons diet is still being researched. Proteins break down into waste products the kidneys must filter from the blood. Eating more protein than the body needs may burden the kidneys and cause kidney function to decline faster. However, protein intake that is too low may lead to malnutrition, a condition that occurs when the body does not get enough nutrients. People with kidney disease on a restricted protein diet should receive blood tests that can show nutrient levels.
                
Some researchers have shown that fish oil supplements containing omega-3 fatty acids may slow kidney damage in some people with kidney disease by lowering blood pressure. Omega-3 fatty acids may help reduce inflammation and slow kidney damage due to IgA nephropathy. To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/supplements.
                
People with IgA nephropathy should talk with a health care provider about dietary changes to best manage their individual needs.
Question: What to do for Glomerular Diseases ?

Answer: - The kidneys filter waste and extra fluid from the blood.  - The filtering process takes place in the nephron, where microscopic blood vessel filters, called glomeruli, are attached to fluid-collecting tubules.  - A number of different disease processes can damage the glomeruli and thereby cause kidney failure. Glomerulonephritis and glomerulosclerosis are broad terms that include many forms of damage to the glomeruli.  - Some forms of kidney failure can be slowed down, but scarred glomeruli can never be repaired.  - Treatment for the early stages of kidney failure depends on the disease causing the damage.  - Early signs of kidney failure include blood or protein in the urine and swelling in the hands, feet, abdomen, or face. Kidney failure may be silent for many years.
                
The Nephrotic Syndrome
                
- The nephrotic syndrome is a condition marked by very high levels of protein in the urine; low levels of protein in the blood; swelling, especially around the eyes, feet, and hands; and high cholesterol.  - The nephrotic syndrome is a set of symptoms, not a disease in itself. It can occur with many diseases, so prevention relies on controlling the diseases that cause it.  - Treatment of the nephrotic syndrome focuses on identifying and treating the underlying cause, if possible, and reducing high cholesterol, blood pressure, and protein in the urine through diet, medication, or both.  - The nephrotic syndrome may go away once the underlying cause, if known, is treated. However, often a kidney disease is the underlying cause and cannot be cured. In these cases, the kidneys may gradually lose their ability to filter wastes and excess water from the blood. If kidney failure occurs, the patient will need to be on dialysis or have a kidney transplant.
Question: What are the symptoms of Cerebellar hypoplasia tapetoretinal degeneration ?

Answer: What are the signs and symptoms of Cerebellar hypoplasia tapetoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar hypoplasia tapetoretinal degeneration. 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% Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nystagmus 90% Optic atrophy 90% Visual impairment 90% Ataxia - Autosomal recessive inheritance - Cerebellar hypoplasia - 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.
Question: What are the symptoms of Valinemia ?

Answer: What are the signs and symptoms of Valinemia? Valinemia is thought to be extremely rare and has been described in only a few people. The condition is reportedly present from birth. Symptoms in the newborn period include lack of appetite, protein intolerance, metabolic acidosis, frequent vomiting, failure to thrive, and/or coma. The condition can become life-threatening. Abnormally low muscle tone (hypotonia); hyperkinesia; hyperactivity; excessive drowsiness; and delayed mental and physical development have also been reported. The Human Phenotype Ontology provides the following list of signs and symptoms for Valinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Drowsiness - Failure to thrive - Hyperkinesis - Hypervalinemia - Muscle weakness - Vomiting - 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 Nonbullous congenital ichthyosiform erythroderma ?

Answer: What are the signs and symptoms of Nonbullous congenital ichthyosiform erythroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nonbullous congenital ichthyosiform erythroderma. 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) Hypohidrosis 90% Ectropion 5% Short finger 5% Short toe 5% Small nail 5% Thin nail 5% Abnormality of the hair - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Congenital nonbullous ichthyosiform erythroderma - External genital hypoplasia - Growth delay - Intellectual disability - Palmoplantar keratoderma - Paralysis - 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 Tietz syndrome ?

Answer: What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tietz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the eyebrow 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Autosomal dominant inheritance - Bilateral sensorineural hearing impairment - Blue irides - Congenital sensorineural hearing impairment - Hypopigmentation of the fundus - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.