umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Hypophosphatasia ?

Answer: How might hypophosphatasia be treated? Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infants, some of which need a tracheostomy, which can lead to problems with speech and language development and tolerance of oral feeds Physiotherapy, occupational therapy and chronic pain management for pain and motor difficulty Surgery for fractures that fail to heal More recently, research has shown positive effects of human recombinant enzyme replacement therapy (ERT), called asfotase alfa, on people who began having symptoms before 6 months of age. There reportedly have been significant improvements in the X-ray appearances of bone tissue, along with improvements in growth, respiratory function, motor development and calcium homeostasis after 612 months of treatment. The children in the original study have now received more than three years of treatment, without apparent major side effects, and with continuing improvement in affected systems. Asfotase alfa appears to be a valuable emerging therapy for the treatment of bone manifestations in people with pediatric-onset HPP. In October of 2015 the FDA approved asfotase alfa, sold as Strensiq. Bone marrow and stem cell transplantation in infancy and childhood have improved the severity of the disease, but have not provided long term improvement.
Question: What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17 ?

Answer: What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - High-frequency hearing impairment - Juvenile onset - 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 Urocanase deficiency ?

Answer: What are the signs and symptoms of Urocanase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Urocanase 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) Nystagmus 5% Aggressive behavior - Ataxia - Autosomal recessive inheritance - Blue irides - Fair hair - Intellectual disability, progressive - Intellectual disability, severe - Short stature - Tremor - Urocanic aciduria - 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 Keratoderma palmoplantar deafness ?

Answer: What are the signs and symptoms of Keratoderma palmoplantar deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar deafness. 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) Palmoplantar keratoderma 90% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Hearing impairment - Palmoplantar hyperkeratosis - 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 Triple A syndrome ?

Answer: How might triple A syndrome be treated? There is no cure for triple A syndrome at this time; treatment typically focuses on managing individual signs and symptoms of the condition. Glucocorticoid deficiency in individuals with known adrenal insufficiency (present with Addison disease) is typically treated by replacement of glucocorticoids. This may be important for avoiding an adrenal crisis and allowing for normal growth in children. In adult individuals, as well as those who have difficulty with compliance, replacing hydrocortisone with prednisone or dexamethasone is sometimes recommended. It is usually recommended that affected individuals wear a medical alert bracelet or necklace and carry the emergency medical information card supplied with it. Achalasia is typically managed with surgical correction. Individuals may be monitored for pulmonary complications (due to reflux and aspiration). Gastric acid reduction therapy in individuals with reflux after surgical intervention is usually recommended. The symptoms in individuals with achalasia may be improved partially with pneumatic dilatation (also called balloon dilation). For those who remain symptomatic after this, other surgeries may be recommended. Alacrima is typically managed by applying topical lubricants (such as artificial tears or ointments), and with punctal occlusion (a procedure used to close the tear ducts that drain tears from the eye). The symptoms of alacrima typically improve with punctal occlusion. However, this procedure is usually only done when therapy with topical lubricants is unsuccessful.
Question: What are the symptoms of Corneal dystrophy of Bowman layer type 1 ?

Answer: What are the signs and symptoms of Corneal dystrophy of Bowman layer type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy of Bowman layer type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Corneal dystrophy - Corneal erosion - Opacification of the corneal stroma - Photophobia - Strabismus - 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 Typhoid Fever ?

Answer: Persons with typhoid fever usually have a sustained fever as high as 103° to 104° F (39° to 40° C). They may also feel weak, or have stomach pains, headache, or loss of appetite. In some cases, patients have a rash of flat, rose-colored spots. The only way to know for sure if an illness is typhoid fever is to have samples of stool or blood tested for the presence of Salmonella Typhi.

Typhoid fever’s danger doesn’t end when symptoms disappear: 

Even if your symptoms seem to go away, you may still be carrying Salmonella Typhi. If so, the illness could return, or you could pass the disease to other people. In fact, if you work at a job where you handle food or care for small children, you may be barred legally from going back to work until a doctor has determined that you no longer carry any typhoid bacteria.
                
If you are being treated for typhoid fever, it is important to do the following:
                
Keep taking the prescribed antibiotics for as long as the doctor has asked you to take them.
                
Wash your hands carefully with soap and water after using the bathroom, and do not prepare or serve food for other people. This will lower the chance that you will pass the infection on to someone else.
                
Have your doctor perform a series of stool cultures to ensure that no Salmonella Typhi bacteria remain in your body.
Question: What is (are) Dementia With Lewy Bodies ?

Answer: Dementia with Lewy bodies (DLB) is one of the most common types of progressive dementia. The central features of DLB include progressive cognitive decline, fluctuations in alertness and attention, visual hallucinations, and parkinsonian motor symptoms, such as slowness of movement, difficulty walking, or rigidity. People may also suffer from depression. The symptoms of DLB are caused by the build-up of Lewy bodies  accumulated bits of alpha-synuclein protein -- inside the nuclei of neurons in areas of the brain that control particular aspects of memory and motor control. Researchers dont know exactly why alpha-synuclein accumulates into Lewy bodies or how Lewy bodies cause the symptoms of DLB, but they do know that alpha-synuclein accumulation is also linked to Parkinson's disease, multiple system atrophy, and several other disorders, which are referred to as the "synucleinopathies." The similarity of symptoms between DLB and Parkinsons disease, and between DLB and Alzheimers disease, can often make it difficult for a doctor to make a definitive diagnosis. In addition, Lewy bodies are often also found in the brains of people with Parkinson's and Alzheimers diseases. These findings suggest that either DLB is related to these other causes of dementia or that an individual can have both diseases at the same time. DLB usually occurs sporadically, in people with no known family history of the disease. However, rare familial cases have occasionally been reported.
Question: What are the genetic changes related to Sjgren-Larsson syndrome ?

Answer: Mutations in the ALDH3A2 gene cause Sjgren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). The FALDH enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. Specifically, the FALDH enzyme breaks down molecules called fatty aldehydes to fatty acids.  ALDH3A2 gene mutations disrupt the normal process of fatty acid oxidation. Most mutations result in the production of a FALDH enzyme that is unable to break down fatty aldehyde molecules. As a result, fats that cannot be broken down build up in cells. Within skin cells, excess fat accumulation can interfere with the formation of membranes that act as protective barriers to control water loss. As a result of the loss of these protective barriers, the skin has difficulty maintaining its water balance, resulting in dry, scaly skin. In the brain, the consequences of excess fat accumulation are unclear, but it is likely that an abundance of fat disrupts the formation of myelin. Myelin is the covering that protects nerves and promotes the efficient transmission of nerve impulses. A lack of myelin can lead to neurological problems such as intellectual disability and walking difficulties. The cause of the eye problems is unclear, but it is also likely related to a disruption in the breakdown of fats.
Question: What is (are) Alcoholism and Alcohol Abuse ?

Answer: For most adults, moderate alcohol use is probably not harmful. However, about 18 million adult Americans have an alcohol use disorder. This means that their drinking causes distress and harm. It includes alcoholism and alcohol abuse.    Alcoholism, or alcohol dependence, is a disease that causes       - Craving - a strong need to drink    - Loss of control - not being able to stop drinking once you've started    - Physical dependence - withdrawal symptoms    - Tolerance - the need to drink more alcohol to feel the same effect       With alcohol abuse, you are not physically dependent, but you still have a serious problem. The drinking may cause problems at home, work, or school. It may cause you to put yourself in dangerous situations, or lead to legal or social problems.    Another common problem is binge drinking. It is drinking about five or more drinks in two hours for men. For women, it is about four or more drinks in two hours.    Too much alcohol is dangerous. Heavy drinking can increase the risk of certain cancers. It can cause damage to the liver, brain, and other organs. Drinking during pregnancy can harm your baby. Alcohol also increases the risk of death from car crashes, injuries, homicide, and suicide.    If you want to stop drinking, there is help. Start by talking to your health care provider. Treatment may include medicines, counseling, and support groups.    NIH: National Institute on Alcohol Abuse and Alcoholism
Question: What is (are) Sepsis ?

Answer: Sepsis is a serious illness. It happens when your body has an overwhelming immune response to a bacterial infection. The chemicals released into the blood to fight the infection trigger widespread inflammation. This leads to blood clots and leaky blood vessels. They cause poor blood flow, which deprives your body's organs of nutrients and oxygen. In severe cases, one or more organs fail. In the worst cases, blood pressure drops and the heart weakens, leading to septic shock.    Anyone can get sepsis, but the risk is higher in       - People with weakened immune systems    - Infants and children    - The elderly    - People with chronic illnesses, such as diabetes, AIDS, cancer, and kidney or liver disease    - People suffering from a severe burn or physical trauma       Common symptoms of sepsis are fever, chills, rapid breathing and heart rate, rash, confusion, and disorientation. Doctors diagnose sepsis using a blood test to see if the number of white blood cells is abnormal. They also do lab tests that check for signs of infection.    People with sepsis are usually treated in hospital intensive care units. Doctors try to treat the infection, sustain the vital organs, and prevent a drop in blood pressure. Many patients receive oxygen and intravenous fluids. Other types of treatment, such as respirators or kidney dialysis, may be necessary. Sometimes, surgery is needed to clear up an infection.    NIH: National Institute of General Medical Sciences
Question: What are the symptoms of Hemangioma thrombocytopenia syndrome ?

Answer: What are the signs and symptoms of Hemangioma thrombocytopenia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangioma thrombocytopenia 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) Autosomal dominant inheritance - Hemangioma - Hyperkalemia - Microangiopathic hemolytic anemia - Thrombocytopenia - Ventricular arrhythmia - 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 Duchenne muscular dystrophy inherited ?

Answer: How do people inherit Duchenne and Becker muscular dystrophy? Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about two thirds of cases, an affected male inherits the mutation from a mother who carries an altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.
Question: What are the symptoms of Tyrosinemia type 3 ?

Answer: What are the signs and symptoms of Tyrosinemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Abnormality of the liver - Autosomal recessive inheritance - Hypertyrosinemia - Intellectual disability, mild - Seizures - 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 Moyamoya disease ?

Answer: What are the signs and symptoms of Moyamoya disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Moyamoya disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 50% Cognitive impairment 50% Seizures 50% Ventriculomegaly 50% Autosomal recessive inheritance - Inflammatory arteriopathy - Telangiectasia - 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.