Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the treatments for Sideroblastic anemia pyridoxine-refractory autosomal recessive ?
Answer: How might sideroblastic anemia pyridoxine-refractory autosomal recessive be treated? Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. Transfusions of red cells are kept to a minimum, to avoid accelerating iron overload. Treatment of iron overload involves an iron depletion program, such as therapeutic phlebotomy or iron chelation. Total splenectomy is contraindicated in this disorder. This form of sideroblastic anemia is not associated with an increased risk for leukemia. A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered. All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.
Question: What are the symptoms of Agammaglobulinemia, non-Bruton type ?
Answer: What are the signs and symptoms of Agammaglobulinemia, non-Bruton type? The Human Phenotype Ontology provides the following list of signs and symptoms for Agammaglobulinemia, non-Bruton 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) Agammaglobulinemia - Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Crohn's disease - Diarrhea - Failure to thrive - Infantile onset - Neutropenia - Recurrent bacterial infections - Recurrent enteroviral infections - Recurrent otitis media - Recurrent pneumonia - Recurrent sinusitis - 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) Majeed syndrome ?
Answer: Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern.
Question: What causes Majeed syndrome ?
Answer: What causes Majeed syndrome? Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.
Question: Is Majeed syndrome inherited ?
Answer: How is Majeed syndrome inherited? Majeed syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis.
Question: What are the treatments for Majeed syndrome ?
Answer: How might Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion.
Question: What are the symptoms of Hairy palms and soles ?
Answer: What are the signs and symptoms of Hairy palms and soles? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy palms and soles. 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 - Hypermelanotic macule - 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) Dextrocardia with situs inversus ?
Answer: Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.
Question: What causes Dextrocardia with situs inversus ?
Answer: What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the body. However, a specific genetic cause of dextrocardia with situs inversus has not been identified and inheritance patterns have not been confirmed in most cases. Some people have dextrocardia with situs inversus as part of an underlying condition called primary ciliary dyskinesia. Primary ciliary dyskinesia can result from changes (mutations) in several different genes, including the DNAI1 and DNAH5 gene; however, the genetic cause is unknown in many families.
Question: Is Dextrocardia with situs inversus inherited ?
Answer: Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically 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. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question: How to diagnose Dextrocardia with situs inversus ?
Answer: How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomography (CT) scanning is typically the preferred examination to confirm the diagnosis of dextrocardia with situs inversus. Magnetic resonance imaging may be substituted in cases that are associated with congenital heart defects.
Question: What are the treatments for Dextrocardia with situs inversus ?
Answer: How might dextrocardia with situs inversus be treated? Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery. The management of people affected by Kartagener syndrome typically includes measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial infections. GeneReviews offers more specific information on the treatment of Kartagener syndrome and other types of primary ciliary dyskinesia. Please click on the link to access this resource.
Question: What is (are) Tracheobronchopathia osteoplastica ?
Answer: Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have persisting or recurrent respiratory symptoms, and/or recurrent infections. The cause of TO is not currently known. There is no specific treatment to prevent the formation of nodules. Laser therapy or removal of the nodules may be needed in some cases.
Question: What are the symptoms of Tracheobronchopathia osteoplastica ?
Answer: What are the signs and symptoms of Tracheobronchopathia osteoplastica? Symptoms of tracheobronchopathia osteoplastica (TO) may be absent or non-specific. Affected people may have various respiratory symptoms such as cough, wheezing, coughing up blood (hemoptysis), and/or recurrent upper airway infections. Stridor and low-pitched wheezing may occur if there is severe airway obstruction. In some cases, obstruction of the lobar bronchi can cause recurrent atelectasis (collapse of the lung) or pneumonia. Nodules seem to remain stable over years, or progress at a very slow rate. It is thought that over 90% of cases are diagnosed incidentally on autopsy. Rapid progression has been reported rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheobronchopathia osteoplastica. 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 skeletal system - Autosomal dominant inheritance - Cough - Dyspnea - Hemoptysis - Hoarse voice - Recurrent pneumonia - 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 causes Tracheobronchopathia osteoplastica ?
Answer: What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis. However, no theories have been validated. There is no known genetic susceptibility to the development of TO.
Question: Is Tracheobronchopathia osteoplastica inherited ?
Answer: Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter.
Question: How to diagnose Tracheobronchopathia osteoplastica ?
Answer: How is tracheobronchopathia osteoplastica diagnosed? Fiberoptic bronchoscopy is thought to be the best procedure to diagnose tracheobronchopathia osteoplastica (TO). This procedure is done when it is important to see the airways or to get samples of mucus or tissue from the lungs. It involves placing a thin, tube-like instrument through the nose or mouth and down into the lungs. During this procedure a bronchial biopsy is usually performed, but samples are sometimes hard to obtain. TO is usually an incidental finding during fiberoptic bronchoscopy, and is rarely suspected before the procedure is done.
Question: What are the treatments for Tracheobronchopathia osteoplastica ?
Answer: How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following the diagnosis.
Question: What are the symptoms of Hypercholesterolemia, autosomal dominant ?
Answer: What are the signs and symptoms of Hypercholesterolemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypercholesterolemia, autosomal dominant. 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 arcus - Coronary artery disease - Hypercholesterolemia - Xanthelasma - 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) Keratoconus ?
Answer: Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom is a slight blurring of vision that cannot be corrected with glasses. Over time, there may be eye halos, glare, or other night vision problems.The cause is unknown, but the tendency to develop keratoconus is probably present from birth. Keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea. Some researchers believe that allergy and eye rubbing may play a role. Treatment for keratoconus depends on the severity of your condition and how quickly the condition is progressing. Mild to moderate keratoconus can be treated with eyeglasses or contact lenses. In some people the cornea becomes scarred or wearing contact lenses becomes difficult. In these cases, surgery might be necessary.
Question: What are the symptoms of Keratoconus ?
Answer: What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. 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) Astigmatism - Autosomal dominant inheritance - Heterogeneous - Keratoconus - Young adult 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 treatments for Keratoconus ?
Answer: What causes keratoconus? The exact cause of keratoconus is unknown. Both genetic and environmental factors may play a role in the development of keratoconus. The genetic factors involve abnormalities in the structure of collagen, which result in a weak and flexible cornea. Keratoconus is more common in people with Down syndrome, Marfan syndrome, and Leber congenital amaurosis, and certain genetic conditions. In these cases, the cause depends on the specific condition. Environmental factors may include living in sunny, hot areas of the world, while eye-rubbing is a major behavioral factor in the disease. Malfunctioning enzymes that normally help maintain the health of the cornea may play a role. All of these factors contribute to the main problem in keratoconus, which is the defective collagen structure that results in thinning and irregularity of the cornea. Keratoconus occurs more frequently in patients with atopy (asthma and eczema) or severe ocular allergies. It may also be linked to hormonal factors because it is more frequent during puberty and also may progress during pregnancy.
Question: What is (are) Acute alcohol sensitivity ?
Answer: Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate.[9184] The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.
Question: What are the symptoms of Acute alcohol sensitivity ?
Answer: What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . 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) Delayed oxidation of acetaldehyde - Facial flushing after alcohol intake - 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.