Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Neutrophil-specific granule deficiency ?
Answer: What are the signs and symptoms of Neutrophil-specific granule deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule 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) Absent neutrophil specific granules - Autosomal recessive inheritance - Hyposegmentation of neutrophil nuclei - Recurrent infections - 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) Pectus carinatum ?
Answer: Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breath during exercise, frequent respiratory infections, and/or asthma. The underlying cause of isolated pectus carinatum is unknown. Pectus carinatum can also be associated with a variety of genetic disorders and syndromes, including Marfan syndrome, Noonan syndrome, Morquio syndrome, homocystinuria, osteogenesis imperfecta, Coffin-Lowery syndrome, cardiofaciocutaneous syndrome, and certain chromosome abnormalities. In these cases, the condition has an underlying genetic cause and is associated with additional features that are characteristic of the genetic disease. Pectus carinatum is primarily a cosmetic concern and treatment, therefore, depends on the severity of the condition and the interests of the affected person and their family. In those who choose to pursue treatment, bracing and/or surgery may be an option.
Question: What is (are) Charcot-Marie-Tooth disease type 2F ?
Answer: Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy; special shoes; surgery as needed; mobility aids; and other supportive treatments.
Question: What causes Charcot-Marie-Tooth disease type 2F ?
Answer: What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.
Question: Is Charcot-Marie-Tooth disease type 2F inherited ?
Answer: How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in the affected individual (de novo mutation). When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and have the condition.
Question: How to diagnose Charcot-Marie-Tooth disease type 2F ?
Answer: Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Question: What are the treatments for Charcot-Marie-Tooth disease type 2F ?
Answer: How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. Depending on the individual's signs and symptoms, the following may be indicated: Special shoes, including those with good ankle support Ankle/foot orthoses (AFO) to correct foot drop and aid with walking Orthopedic surgery to correct severe pes cavus Forearm crutches or canes for stability (fewer than 5% of affected individuals need wheelchairs) Treatment of sleep apnea or restless legs Treatment of pain and depression as needed
Question: What is (are) Adiposis dolorosa ?
Answer: Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but it can also occur in men. Adiposa dolorosa is chronic and tends to be progressive. The exact cause is unknown. Most cases are sporadic (not inherited) but a few familial cases with autosomal dominant inheritance have been reported. Treatment may include weight reduction; surgical removal or liposuction of lipomas; and pain management.
Question: What causes Adiposis dolorosa ?
Answer: What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers have also suggested that it could be an autoimmune disorder. Because the condition has rarely occurred in more than one person within a family, it may have a genetic component. However, no specific gene known to be associated with the condition has been identified. It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.
Question: Is Adiposis dolorosa inherited ?
Answer: Is adiposis dolorosa inherited? Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited in an autosomal dominant manner. In these cases, when an affected person has children, each child has a 50% (1 in 2) risk to inherit the gene causing the condition. However, no associated genes have been identified.
Question: How to diagnose Adiposis dolorosa ?
Answer: Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of adiposis dolorosa are sporadic (not inherited) and no genes known to be associated with the condition have been identified. We are also not aware of laboratories currently offering research genetic testing for this condition.
Question: What are the treatments for Adiposis dolorosa ?
Answer: How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no drug known to change the course of the disease. Available treatments mainly focus on alleviating symptoms and may include: prednisone or intravenous lidocaine for pain traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often inefficient), or acetaminophen combined with an opioid analgesic a cortisone/anesthetic injection for localized pain diuretics for swelling of the fingers Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon -2b; calcium-channel modulators; and rapid cycling hypobaric pressure. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.
Question: What is (are) Axial spondylometaphyseal dysplasia ?
Answer: Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.
Question: What are the treatments for Axial spondylometaphyseal dysplasia ?
Answer: How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. Specialists such as opthmologists, geneticists, and orthopedists work in concert in devloping an individualized treatment plan. We are unaware of any cases describing the use of growth hormone therapies for treatment of short stature caused by axial spondylometaphyseal dysplasia. Treatment of skeletal dysplasias with growth hormone therapy must be done with caution. The Little People of America, Inc Web site lists articles on repiratory and breathing problems in people with skeletal dysplasias, including an article titled Breathing Problems Among Little People: When to Be Concerned. Detailed information related to the management of retinitis pigmentosa can be accessed through GeneReviews and the Treatment and Medication sections of Medscape Reference. Detailed information related to the management of coxa vara can also be found in the Treatment sections of a Medscape Reference review article on this condition. Johns Hopkins Department of Orthopedic Surgery offers a Patient Guide to Scoliosis. MedlinePlus.gov provides information on optic atrophy. Further medical support resources can be found through the Little People of America, Inc.
Question: What is (are) Thoracic outlet syndrome ?
Answer: Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), venous (vTOS), and arterial thoracic outlet syndrome (aTOS). While collectively TOS is not thought to be rare, individual sub-types may be. The most common type (95% of cases) is nTOS which is caused from brachial plexus compression. Symptoms of nTOS include shoulder and arm numbness, abnormal sensations and weakness. vTOS may cause deep vein thrombosis and swelling; and aTOS can cause blood clots, arm pain with exertion, or acute arterial thrombosis (sudden blood flood obstruction in an artery). Diagnosis of TOS can be very difficult and diagnosis is often delayed. Treatment depends on the type of TOS and may include physical therapy, thoracic outlet decompression, thrombolysis or other procedures.
Question: What are the symptoms of Thoracic outlet syndrome ?
Answer: What are the signs and symptoms of Thoracic outlet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoracic outlet 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) Paresthesia 90% Abnormality of the ribs 50% Acrocyanosis 50% Arthralgia 50% Edema 50% Muscle weakness 50% Myalgia 50% EMG abnormality 7.5% Flexion contracture 7.5% Thrombophlebitis 7.5% Venous insufficiency 7.5% 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 Thoracic outlet syndrome inherited ?
Answer: Are cervical ribs inherited? Cervical ribs are actually thought to be a common trait. It has been estimated that 1 to 2% of the population have a cervical rib. Cervical ribs can affect one or both sides of the neck, and may cause thoracic outlet syndrome by putting pressure on an artery. Currently, the cause of cervical ribs is not known. In general, both genetic and environmental factors are thought to be involved. There have been animal studies investigating the role of HOX genes in causing extra ribs. Studies have also suggested environmental exposures, such as maternal exposure to foreign chemicals or stress during pregnancy could play a role. Further research in this area is needed. There have been rare case reports of families with multiple members with cervical rib. In these families autosomal dominant inheritance was suspected. Click here to learn more about autosomal dominant inheritance. While we were unable to find recurrence risk data that might help inform your loved ones of their risk for cervical rib and thoracic outlet syndrome, we do suggest that your family members let their healthcare provider know of their family medical history. The Surgeon General's Family History Initiative's Family Health Portrait Tool, may be a helpful resource. You can use this tool to collect, record, and share your family health history information. http://www.hhs.gov/familyhistory/
Question: How to diagnose Thoracic outlet syndrome ?
Answer: How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. A number of disorders have symptoms similar to those of TOS, including rotator cuff injuries, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. These conditions must be ruled out, which may also be difficult.
Question: What is (are) Chronic active Epstein-Barr virus infection ?
Answer: Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr virus (EBV). Most infections occur during childhood and do not cause any symptoms. EBV infection in adolescents or young adults can often result in infectious mononucleosis. Rarely, people infected with EBV develop a life-threatening condition called chronic active EBV virus (CAEBV). Patients with CAEBV most often have fever, liver dysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia). Hematopoietic stem cell transplantation has shown promise in the treatment of CAEBV.
Question: What are the symptoms of Chronic active Epstein-Barr virus infection ?
Answer: What are the signs and symptoms of Chronic active Epstein-Barr virus infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic active Epstein-Barr virus infection. 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 - Bronchiectasis - Fever - Pneumonia - Sinusitis - Splenomegaly - 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 Potocki-Shaffer syndrome ?
Answer: What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present: Enlarged parietal foramina Multiple exostoses Intellectual disability Developmental delay Failure to thrive Autism Behavioral problems Deafness Myopia (nearsightedness) Nystagmus Cataract Strabismus Aniridia Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible) Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn. The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer 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) Cognitive impairment 90% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - 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.