umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Hereditary hemorrhagic telangiectasia ?

Answer: Can hereditary hemorrhagic telangiectasia (HHT) be treated? Yes. Although there is not yet a way to prevent the telangiectases or AVMs associated with HHT, most can be treated once they occur. Management includes surveillance for undiagnosed AVMs and treatment for identified complications such as nosebleeds, gastrointestinal bleeding, anemia, pulmonary AVMs, cerebral AVMs, and hepatic AVMs. Treatment of nosebleeds with humidification and nasal lubricants, laser ablation, septal dermoplasty, or estrogen-progesterone therapy can prevent anemia and allow individuals with HHT to pursue normal activities. Individuals with GI bleeding are treated with iron therapy to maintain hemoglobin concentration; endoscopic application of a heater probe, bicap, or laser; surgical removal of bleeding sites; and estrogen-progesterone therapy. Iron replacement and red blood cell transfusions are used to treat anemia. Pulmonary AVMs with feeding vessels that exceed 3.0 mm in diameter require occlusion. Cerebral AVMs greater than 1.0 cm in diameter are treated by surgery, embolotherapy, and/or stereotactic radiosurgery. The treatment of choice for hepatic AVMs is liver transplantation. Blood-thinning medications (anticoagulants) and anti-inflammatory agents should be avoided. Some patients may need to take antibiotics during simple dental or surgical procedures. Individual patients and their doctors should make decisions regarding these measures, as necessary. Surveillance includes annual evaluations for anemia and neurologic conditions and re-evaluation for pulmonary AVMs every one to two years during childhood and every five years thereafter. Women with HHT considering pregnancy are screened and treated for pulmonary AVMs; if pulmonary AVMs are discovered during pregnancy, they are treated during the second trimester.
Question: What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ?

Answer: What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. 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) Hearing impairment 5% Nystagmus 5% Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral hypomyelination - Choreoathetosis - Delayed speech and language development - Dysarthria - Dystonia - Intellectual disability - Leukodystrophy - Microcephaly - Motor delay - Muscular hypotonia of the trunk - Optic atrophy - Poor speech - Progressive - Rigidity - Seizures - Short stature - Spasticity - Specific learning disability - Sporadic - Tremor - Variable expressivity - Visual impairment - 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 is (are) prostate cancer ?

Answer: Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal and multiply without control or order to form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm.  Early prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical procedure called a digital rectal exam. As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer.  The severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening.  Some cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. Bone metastases of prostate cancer most often cause pain in the lower back, pelvis, or hips.  A small percentage of all prostate cancers cluster in families. These hereditary cancers are associated with inherited gene mutations. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.
Question: What are the treatments for Prevent diabetes problems: Keep your eyes healthy ?

Answer: You can help your diabetes retina problems by controlling your
                
- blood glucose  - blood pressure  - cholesterol and triglycerides, or types of blood fat
                
If your retinopathy still does not improve, then you may need other treatments. You will need to see an ophthalmologist who can decide whether you need one of these treatments:
                
- Medicines. Your doctor treats macular edema with injections of medicines into the eye. These medicines block a protein in the body that causes abnormal blood vessel growth and fluid leakage. Reducing the fluid leakage often allows the retina to return to normal thickness. The ophthalmologist will numb your eye and then insert a tiny needle to deliver the medicine.  - Laser treatment. Your doctor can also treat macular edema with focal laser treatment. In one visit, the ophthalmologist will numb your eye and place many small laser burns in the areas leaking fluid near the macula. These burns slow the leakage of fluid and reduce the amount of fluid in your retina.  Sometimes your doctor also treats diabetic retinopathy with scatter laser treatment. In two or more visits, the ophthalmologist will numb your eye and place thousands of laser burns around the new, weak blood vessels away from the macula, causing them to shrink.  Laser treatment can greatly reduce your chances of blindness from retina damage. However, laser treatment often cannot restore vision that has already been lost.  Treatment with medicines or lasers can be performed in your ophthalmologists office.  - Vitrectomy. If the bleeding in your eye is severe, you may need to go to the hospital for a surgery called a vitrectomy. Your ophthalmologist will numb your eye or give you general anesthesia to help you fall asleep. The ophthalmologist will make a tiny cut in your eye and remove the vitreous gel that is clouded with blood. The ophthalmologist replaces the vitreous gel with a salt solution.
Question: What are the treatments for Henoch-Schnlein Purpura ?

Answer: 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.
                
Treatment is rarely required for the rash. Joint pain is often treated with nonsteroidal anti-inflammatory medications, such as aspirin or ibuprofen. Recent research has shown corticosteroidsmedications that decrease swelling and reduce the activity of the immune systemto be even more effective in treating joint pain. Corticosteroids are also used to treat abdominal pain.
                
Though rare, surgery may be needed to treat intussusception or to determine the cause of swollen testicles.
                
HSP that affects the kidneys may be treated with corticosteroid and immunosuppressive medications. Immunosuppressive medications prevent the body from making antibodies. Adults with severe, acute kidney failure are treated with high-dose corticosteroids and the immunosuppressive cyclophosphamide (Cytoxan).
                
People with HSP that is causing high blood pressure may need to take medications thatwhen taken as prescribed by their health care providerlower their blood pressure and 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 proven 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 diuretica medication that helps the kidneys remove fluid from the bloodmay be prescribed. Beta blockers, calcium channel blockers, and other blood pressure medications may also be needed.
                
Blood and urine tests are used to check the kidney function of people with HSP for at least 6 months after the main symptoms disappear.
Question: What are the symptoms of Senior Loken Syndrome ?

Answer: What are the signs and symptoms of Senior Loken Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Senior Loken 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 retinal pigmentation 90% Cognitive impairment 90% Hypertension 90% Multicystic kidney dysplasia 90% Polycystic kidney dysplasia 90% Short stature 90% Visual impairment 90% Abnormality of the renal tubule 50% Abnormality of bone mineral density 7.5% Cataract 7.5% Cone-shaped epiphysis 7.5% Congenital hepatic fibrosis 7.5% Incoordination 7.5% Anemia - Autosomal recessive inheritance - Heterogeneous - Nephronophthisis - Polydipsia - Polyuria - Stage 5 chronic kidney disease - Tapetoretinal degeneration - 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 Mental retardation syndrome, Belgian type ?

Answer: What are the signs and symptoms of Mental retardation syndrome, Belgian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation syndrome, Belgian 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) Abnormal nasal morphology 90% Abnormality of the testis 90% Cognitive impairment 90% Deeply set eye 90% Eunuchoid habitus 90% Long face 90% Long thorax 90% Mandibular prognathia 90% Narrow chest 90% Narrow nasal bridge 90% Type I diabetes mellitus 90% Muscular hypotonia 50% Seizures 50% Skeletal muscle atrophy 50% Autosomal recessive inheritance - Cleft ala nasi - Diabetes mellitus - Hypergonadotropic hypogonadism - Intellectual disability, moderate - Wide nose - 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 Osteogenesis imperfecta type III ?

Answer: What are the signs and symptoms of Osteogenesis imperfecta type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type III. 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 nervous system - Abnormality of the thorax - Autosomal dominant inheritance - Autosomal recessive inheritance - Basilar impression - Biconcave vertebral bodies - Blue sclerae - Bowing of limbs due to multiple fractures - Decreased calvarial ossification - Dentinogenesis imperfecta - Frontal bossing - Hearing impairment - Kyphosis - Multiple prenatal fractures - Neonatal short-limb short stature - Platybasia - Protrusio acetabuli - Pulmonary hypertension - Recurrent fractures - Scoliosis - Severe generalized osteoporosis - Slender long bone - Tibial bowing - Triangular face - Wide anterior fontanel - Wormian bones - 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 Exstrophy of the bladder ?

Answer: What are the signs and symptoms of Exstrophy of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Exstrophy of the bladder. 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 female external genitalia 90% Displacement of the external urethral meatus 90% Exstrophy 90% Hypoplasia of penis 90% Umbilical hernia 90% Vesicoureteral reflux 90% Recurrent urinary tract infections 50% Bowel incontinence 7.5% Intestinal malrotation 7.5% Omphalocele 7.5% Abnormality of pelvic girdle bone morphology - Anteriorly placed anus - Autosomal dominant inheritance - Bladder exstrophy - Epispadias - Horseshoe kidney - Hydroureter - Inguinal hernia - Unilateral renal agenesis - 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 Spondyloepimetaphyseal dysplasia, Aggrecan type ?

Answer: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia, Aggrecan 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) Absent nasal bridge 3/3 Barrel-shaped chest 3/3 Broad thumb 3/3 Joint laxity 3/3 Low-set ears 3/3 Lumbar hyperlordosis 3/3 Malar flattening 3/3 Mandibular prognathia 3/3 Mesomelia 3/3 Posteriorly rotated ears 3/3 Relative macrocephaly 3/3 Rhizomelia 3/3 Short finger 3/3 Short neck 3/3 Hoarse voice 2/3 Autosomal recessive inheritance - Spondyloepimetaphyseal dysplasia - 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 genetic changes related to TK2-related mitochondrial DNA depletion syndrome, myopathic form ?

Answer: As the condition name suggests, mutations in the TK2 gene cause TK2-MDS. The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues. Mitochondria are involved in a wide variety of cellular activities, including energy production; chemical signaling; and regulation of cell growth, cell division, and cell death. Mitochondria contain their own genetic material, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Thymidine kinase 2 is involved in the production and maintenance of mtDNA. Specifically, this enzyme plays a role in recycling mtDNA building blocks (nucleotides) so that errors in mtDNA sequencing can be repaired and new mtDNA molecules can be produced.  Mutations in the TK2 gene reduce the production or activity of thymidine kinase 2. A decrease in enzyme activity impairs recycling of mtDNA nucleotides, causing a shortage of nucleotides available for the repair and production of mtDNA molecules. A reduction in the amount of mtDNA (known as mtDNA depletion) impairs mitochondrial function. Greater mtDNA depletion tends to cause more severe signs and symptoms. The muscle cells of people with TK2-MDS have very low amounts of mtDNA, ranging from 5 to 30 percent of normal. Other tissues can have 60 percent of normal to normal amounts of mtDNA.  It is unclear why TK2 gene mutations typically affect only muscle tissue, but the high energy demands of muscle cells may make them the most susceptible to cell death when mtDNA is lost and less energy is produced in cells. The brain and the liver also have high energy demands, which may explain why these organs are affected in severe cases of TK2-MDS.
Question: What is (are) Fukuyama congenital muscular dystrophy ?

Answer: Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.  Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are muscles the body uses for movement. The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting, standing, and walking.  Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability. Social skills are less severely impaired. Most children with Fukuyama congenital muscular dystrophy are never able to stand or walk, although some can sit without support and slide across the floor in a seated position. More than half of all affected children also experience seizures.  Other signs and symptoms of Fukuyama congenital muscular dystrophy include impaired vision, other eye abnormalities, and slowly progressive heart problems after age 10. As the disease progresses, affected people may develop swallowing difficulties that can lead to a bacterial lung infection called aspiration pneumonia. Because of the serious medical problems associated with Fukuyama congenital muscular dystrophy, most people with the disorder live only into late childhood or adolescence.