Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Premature aging Okamoto type ?
Answer: What are the signs and symptoms of Premature aging Okamoto type? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature aging Okamoto 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) Abnormality of blood and blood-forming tissues - Abnormality of the hair - Abnormality of the pinna - Cataract - Depressed nasal bridge - Diabetes mellitus - Growth abnormality - Low-set ears - Microcephaly - Neoplasm - Osteoporosis - Osteosarcoma - Round face - 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 Cone-rod dystrophy 2 ?
Answer: What are the signs and symptoms of Cone-rod dystrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 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) Abnormality of color vision - Autosomal dominant inheritance - Blindness - Chorioretinal atrophy - Cone/cone-rod dystrophy - Constriction of peripheral visual field - Nyctalopia - Peripheral visual field loss - 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: What is (are) Bronchiolitis obliterans organizing pneumonia ?
Answer: Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications.
Question: What are the symptoms of Bronchiolitis obliterans organizing pneumonia ?
Answer: What are the signs and symptoms of bronchiolitis obliterans organizing pneumonia (BOOP)? Signs and symptoms of BOOP vary. Some individuals with BOOP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly-progressive BOOP. The most common signs and symptoms of BOOP include shortness of breath (dyspnea), dry cough, and fever. Some people with BOOP develope a flu-like illness with cough, fever, fatigue, and weight loss.
Question: What causes Bronchiolitis obliterans organizing pneumonia ?
Answer: What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia (COP).
Question: How to diagnose Bronchiolitis obliterans organizing pneumonia ?
Answer: How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis.
Question: What are the treatments for Bronchiolitis obliterans organizing pneumonia ?
Answer: How might bronchiolitis obliterans organizing pneumonia (BOOP) be treated? Most cases of BOOP respond well to treatment with corticosteroids. If the condition is caused by a particular drug, stopping the drug can also improve a patient's condition. Other medications reported in the medical literature to be beneficial for individuals on a case-by-case basis include: cyclophosphamide, erythromycin in the form of azithromycin, and Mycophenolate Mofetil (CellCept). More esearch is needed to determine the long-term safety and effectiveness of these potential treatment options for individuals with BOOP. In rare cases, lung transplantation may be necessary for individuals with BOOP who do not respond to standard treatment options.
Question: What is (are) Mycobacterium Malmoense ?
Answer: Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. Skin and tissue infections with M. malmoense have also been described. In young children, M. Malmoense may cause an infection of lymphnodes in the neck (i.e., cervical lymphadenitis).
Question: What are the symptoms of Mycobacterium Malmoense ?
Answer: What are the signs and symptoms of mycobacterium malmoense infection? Many cases of M. malmoense infection cause no symptoms, and as a result go unrecognized. M. malmoense infections in adults often present as lung infections with or without fever. In children, M. malmoense infections can present as a single sided, non-tender, enlarging, neck mass. The mass may be violet in color and often does not respond to conventional antibiotic therapy. M. malmoense infection can also cause skin lesions or abscesses.
Question: What causes Mycobacterium Malmoense ?
Answer: How are mycobacterium malmoense infections contracted? M. Malmoense infection may be acquired by breathing in or ingesting the bacteria, or through trauma, such as an injury or surgical incision. People who have suppressed immune systems are at an increased risk for developing signs and symptoms from these infections.
Question: What is (are) Nemaline myopathy ?
Answer: Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern. Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu.
Question: What is (are) Leber hereditary optic neuropathy ?
Answer: Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. This condition is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes.
Question: What causes Leber hereditary optic neuropathy ?
Answer: What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). The genes related to Leber hereditary optic neuropathy each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of Leber hereditary optic neuropathy. Click here to visit the Genetic Home Reference Web site to learn more about how mutations in these genes cause Leber hereditary optic neuropathy.
Question: Is Leber hereditary optic neuropathy inherited ?
Answer: How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. Men can be affected, but they cannot pass the condition on to their children. Often, people who develop the features of Leber hereditary optic neuropathy have no family history of the condition. Because a person may carry a mitochondrial DNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other medical problems associated with Leber hereditary optic neuropathy. It is important to note that all females with a mitochondrial DNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children.
Question: What are the treatments for Sprengel deformity ?
Answer: How might Sprengel deformity be treated? Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles. For those who do require surgery, the goals are to release the binding of the scapula and relocate the scapula. Surgery can improve the cosmetic appearance and contour of the neck, and improve the scapular function when it is severely impaired. However, the ability to increase shoulder abduction is limited. For surgical indication, many experts refer to the Cavendish classification - one method used for grading the severity of Sprengel deformity. This method classifies the condition into grades I through IV, with grade I being the most mild (almost invisible when covered with clothes) and grade IV being the most severe (with over 5 centimeters of elevation of the shoulder, and neck webbing). Although no improvement or worsening has been reported in untreated grade I and II cases, surgery is recommended in grade III and IV deformities. However, the Cavendish classification may be subjective and inaccurate since it is based on the structure of the deformity (rather than function) and aesthetic criteria. The optimal age for surgery is controversial, but most experts recommend that it be done before age 8 to obtain the best surgical result. There are several surgical options that may be considered depending on each person's situation. Many of the surgical procedures for Sprengel deformity leave unsightly scars, so the cosmetic improvement must be carefully considered.
Question: What is (are) Immunotactoid or fibrillary glomerulopathy ?
Answer: Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be distinguished from each other by electron microscopy; the 'fibrils' that characterize fibrillary glomerulonephritis are smaller and randomly oriented as opposed to the larger and organized fibrils of immunotactoid glomerulopathy which also have microtubule formations. Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The signs and symptoms are similar in both diseases and may include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Fibrillary glomeurlonephritis is much more common than immunotactoid glomerulopathy. Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease, but immunotactoid glomerulopathy patients have a greater predisposition to chronic lymphocytic leukemia and B cell lymphomas. All patients should be screened for these conditions. It is also important to rule out another disease known as amyloidosis. When the fibrils are stained with an acid dye known as "Congo red" the results are negative. In amyloidosis the results are positive because the dye is absorbed by the amyloids. Treatment is generally determined by the severity of the kidney problems.
Question: What is (are) TAR syndrome ?
Answer: TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. Children who survive this period and do not have damaging bleeding in the brain usually have a normal life expectancy and normal intellectual development. Other signs and symptoms vary but may include heart defects, kidney defects, and other skeletal abnormalities. About half of people with TAR syndrome also have difficulty digesting cow's milk. TAR syndrome is thought be caused by a deletion of genes on chromosome 1q21.1 in concert with another genetic change that has yet to be identified. Click here to see a diagram of chromosome 1.
Question: What is (are) Imerslund-Grasbeck syndrome ?
Answer: Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades.
Question: What are the symptoms of Imerslund-Grasbeck syndrome ?
Answer: What are the signs and symptoms of Imerslund-Grasbeck syndrome? Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also have mild proteinuria but no signs of kidney disease. Individuals may also have mild neurological damage. Congenital (present at birth) abnormalities of the urinary tract were present in some of the original reported cases. The age at diagnosis is usually anywhere from a few months of age to about 14 years of age. The Human Phenotype Ontology provides the following list of signs and symptoms for Imerslund-Grasbeck 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 recessive inheritance - Childhood onset - Confusion - Dementia - Malabsorption of Vitamin B12 - Megaloblastic anemia - Paresthesia - Proteinuria - Sensory 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: How to diagnose Imerslund-Grasbeck syndrome ?
Answer: How is Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin B12 malabsorption must then be ruled out. Lastly, it must be shown that after correcting the deficiency, the only nutrient to be poorly absorbed is vitamin B12. The diagnosis can also be confirmed by having genetic testing of the genes that are known to cause the condition. While the presence of proteinuria is strongly suggestive of IGS, not all affected individuals have proteinuria.
Question: What is (are) Leprechaunism ?
Answer: Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.
Question: What is (are) Secondary adrenal insufficiency ?
Answer: Adrenal insufficiency is an endocrine disorder that occurs when the adrenal glands do not produce enough of certain hormones. Secondary adrenal insufficiency occurs when the pituitary gland (a pea-sized gland at the base of the brain) fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. The lack of these hormones in the body can be caused by reduction or cessation of corticosteroid medication, the surgical removal of pituitary tumors, or changes in the pituitary gland. Symptoms of secondary adrenal insufficiency may include severe fatigue, loss of appetite, weight loss, nausea, vomiting, diarrhea, muscle weakness, irritability, and depression. Treatment includes replacing the hormones that the adrenal glands are not making. The dose of each medication is adjusted to meet the needs of each affected individual.
Question: What is (are) Multiple epiphyseal dysplasia ?
Answer: Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. Most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.
Question: What is (are) Subacute cerebellar degeneration ?
Answer: Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration). Signs and symptoms may include ataxia, speech and swallowing problems, dementia, vision problems, and vertigo.
Question: What are the symptoms of Subacute cerebellar degeneration ?
Answer: What are the signs and symptoms of subacute cerebellar degeneration? Signs and symptoms of subacute cerebellar degeneration, include ataxia, speech and swallowing problems, dementia (in about half of people with this condition), and difficulty walking. People with subacute cerebellar degeneration due to thiamine deficiency may also experience quick involuntary movements of the eyeball (nystagmus), double-vision, dizziness, and paralysis of the eye muscles. In paraneoplastic cerebellar degeneration, dizziness, nausea, and vomiting may precede the neurological symptoms. Paraneoplastic cerebellar degeneration may occur in association with Lambert Eaton myasthenic syndrome or encephalomyelitis.
Question: What causes Subacute cerebellar degeneration ?
Answer: What causes subacute cerebellar degeneration? Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration. Subacute cerebellar degeneration may also occur due to thiamine deficiency. Causes of thiamin deficiency include alcoholism, recurrent vomiting, gastric surgery, and diets poor in this B vitamin. These cases are referred to as alcoholic/nutritional cerebellar degeneration. For further information pertaining to the neurological effects of severe thiamine deficiency, see the following link to the Wernicke-Korsakoff syndrome resource page. http://rarediseases.info.nih.gov/gard/6843/wernicke-korsakoff-syndrome/Resources/1