umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Camptodactyly taurinuria ?

Answer: What are the signs and symptoms of Camptodactyly taurinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly taurinuria. 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 - Increased urinary taurine - Knee dislocation - 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 Hypokalemic periodic paralysis ?

Answer: What causes hypokalemic periodic paralysis? Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain positively charged atoms (ions) into muscle cells. The CACNA1S and SCN4A proteins form channels that control the flow of these ions. The channel formed by the CACNA1S protein transports calcium ions into cells, while the channel formed by the SCN4A protein transports sodium ions. Mutations in the CACNA1S or SCN4A gene alter the usual structure and function of calcium or sodium channels. The altered channels cannot properly regulate the flow of ions into muscle cells, which reduces the ability of skeletal muscles to contract. Because muscle contraction is needed for movement, a disruption in normal ion transport leads to episodes of severe muscle weakness or paralysis. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in the CACNA1S or SCN4A gene. In these cases, the cause of the condition is unknown.
Question: What are the treatments for Mitochondrial complex IV deficiency ?

Answer: How might cytochrome C oxidase deficiency be treated? There is currently no cure for cytochrome C oxidase (COX) deficiency. Management of all forms of COX deficiency generally focuses on the specific symptoms present in the affected individual and is largely supportive. The goals of treatment are to improve symptoms and slow progression of the disease; the effectiveness of treatment varies with each individual. Treatment generally does not reverse any damage that has already occurred. Prognosis varies depending on the form of COX deficiency present. Individuals with benign infantile mitochondrial myopathy may experience spontaneous recovery (although early diagnosis and intensive treatment is still needed until this point), while there may be rapid demise in individuals with Leigh syndrome. It is often recommended that individuals with mitochondrial disorders such as COX deficiency avoid fasting. Dehydration due to vomiting or illness may be treated with intravenous fluid if the individual is not able to take fluids orally. Seizures are typically controlled with anticonvulsants. Some affected individuals may benefit from physical, occupational, and speech therapies that are specifically tailored to their needs. Dietary supplements including certain vitamins and cofactors have shown varying degrees of benefit in individual cases. Individuals interested in specific management recommendations for themselves or relatives should speak with their healthcare providers.
Question: What causes Osteogenesis imperfecta ?

Answer: What causes osteogenesis imperfecta? Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes. OI is most commonly due to a mutation in either the COL1A1 or COL1A2 gene, causing OI types I through IV. These genes play a role in how the body makes collagen, a material that helps to strengthen the bones. The type and severity of OI depends on the effect that the specific mutation has on normal collagen production. OI caused by mutations in these genes is inherited in an autosomal dominant manner. In about 10% of people with OI, the COL1A1 and COL1A2 genes are normal and the condition is due to mutations in other genes; many of these people have an autosomal recessive form of OI. Other genes in which mutations may be responsible for less common types of OI, some of which have been reported in only one individual or family, include: IFITM5 (type V) SERPINF1 (type VI) CRTAP (type VII) LEPRE1, also called P3H1 (type VIII) PPIB (type IX) SERPINH1 (type X) FKBP10 (type XI) SP7 (type XII) BMP1 (type XIII) TMEM38B (type XIV) WNT1 (type XV) SPARC (type XVII)
Question: What are the symptoms of Roch-Leri mesosomatous lipomatosis ?

Answer: What are the signs and symptoms of Roch-Leri mesosomatous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Roch-Leri mesosomatous lipomatosis. 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 skin 90% 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 Parasites - Lice - Head Lice ?

Answer: Misdiagnosis of head lice infestation is common. The diagnosis of head lice infestation is best made by finding a live nymph or adult louse on the scalp or hair of a person.
    
Because adult and nymph lice are very small, move quickly, and avoid light, they may be difficult to find. Use of a fine-toothed louse comb may facilitate identification of live lice.
    
If crawling lice are not seen, finding nits attached firmly within ¼ inch of the base of hair shafts suggests, but does not confirm, the person is infested. Nits frequently are seen on hair behind the ears and near the back of the neck. Nits that are attached more than ¼ inch from the base of the hair shaft are almost always non-viable (hatched or dead). Head lice and nits can be visible with the naked eye, although use of a magnifying lens may be necessary to find crawling lice or to identify a developing nymph inside a viable nit. Nits are often confused with other particles found in hair such as dandruff, hair spray droplets, and dirt particles.
    
If no nymphs or adults are seen, and the only nits found are more than ¼ inch from the scalp, then the infestation is probably old and no longer active — and does not need to be treated.
Question: What is (are) Alexander Disease ?

Answer: Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease. The infantile form is the most common type of Alexander disease. It has an onset during the first two years of life. Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease is less common and has an onset between the ages of two and thirteen. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinsons disease or multiple sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.
Question: What are the treatments for abdominal wall defect ?

Answer: These resources address the diagnosis or management of abdominal wall defect:  - Cincinnati Children's Hospital: Gastroschisis  - Cincinnati Children's Hospital: Omphalocele  - Cleveland Clinic: Omphalocele  - Genetic Testing Registry: Congenital omphalocele  - Great Ormond Street Hospital for Children (UK): Gastroschisis  - MedlinePlus Encyclopedia: Gastroschisis Repair  - MedlinePlus Encyclopedia: Gastroschisis Repair--Series (images)  - MedlinePlus Encyclopedia: Omphalocele Repair  - MedlinePlus Encyclopedia: Omphalocele Repair--Series (images)  - Seattle Children's Hospital: Gastroschisis Treatment Options  - Seattle Children's Hospital: Omphalocele Treatment Options  - The Children's Hospital of Philadelphia: Diagnosis and Treatment of Gastroschisis  - The Children's Hospital of Philadelphia: Overview and Treatment of Omphalocele  - University of California, San Francisco Fetal Treatment Center: Gastroschisis  - University of California, San Francisco Fetal Treatment Center: Omphalocele   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What are the genetic changes related to gray platelet syndrome ?

Answer: Gray platelet syndrome can be caused by mutations in the NBEAL2 gene. Little is known about the protein produced from this gene. It appears to play a role in the formation of alpha-granules, which are sacs inside platelets that contain growth factors and other proteins that are important for blood clotting and wound healing. In response to an injury that causes bleeding, the proteins stored in alpha-granules help platelets stick to one another to form a plug that seals off damaged blood vessels and prevents further blood loss.  Mutations in the NBEAL2 gene disrupt the normal production of alpha-granules. Without alpha-granules, platelets are unusually large and fewer in number than usual (macrothrombocytopenia). The abnormal platelets also appear gray when viewed under a microscope, which gives this condition its name. A lack of alpha-granules impairs the normal activity of platelets during blood clotting, increasing the risk of abnormal bleeding. Myelofibrosis is thought to occur because the growth factors and other proteins that are normally packaged into alpha-granules leak out into the bone marrow. The proteins lead to fibrosis that affects the bone marrow's ability to make new blood cells.  Some people with gray platelet syndrome do not have an identified mutation in the NBEAL2 gene. In these individuals, the cause of the condition is unknown.
Question: Is cone-rod dystrophy inherited ?

Answer: Cone-rod dystrophy is usually 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, but they typically do not show signs and symptoms of the condition.  Less frequently, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person has one parent with the condition.  Rarely, cone-rod dystrophy is inherited in an X-linked recessive pattern. The genes associated with this form of the condition are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with one copy of the altered gene have mild vision problems, such as decreased visual acuity. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: What are the genetic changes related to achromatopsia ?

Answer: Achromatopsia results from changes in one of several genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. A particular CNGB3 gene mutation underlies the condition in Pingelapese islanders.  Achromatopsia is a disorder of the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells, called rods and cones. These cells transmit visual signals from the eye to the brain through a process called phototransduction. Rods provide vision in low light (night vision). Cones provide vision in bright light (daylight vision), including color vision.  Mutations in any of the genes listed above prevent cones from reacting appropriately to light, which interferes with phototransduction. In people with complete achromatopsia, cones are nonfunctional, and vision depends entirely on the activity of rods. The loss of cone function leads to a total lack of color vision and causes the other vision problems. People with incomplete achromatopsia retain some cone function. These individuals have limited color vision, and their other vision problems tend to be less severe.  Some people with achromatopsia do not have identified mutations in any of the known genes. In these individuals, the cause of the disorder is unknown. Other genetic factors that have not been identified likely contribute to this condition.
Question: What are the genetic changes related to multiple sulfatase deficiency ?

Answer: Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. The FGE enzyme modifies other enzymes called sulfatases, which aid in breaking down substances that contain chemical groups known as sulfates. These substances include a variety of sugars, fats, and hormones.  Most SUMF1 gene mutations severely reduce the function of the FGE enzyme or lead to the production of an unstable enzyme that is quickly broken down. The activity of multiple sulfatases is impaired because the FGE enzyme modifies all known sulfatase enzymes. Sulfate-containing molecules that are not broken down build up in cells, often resulting in cell death. The death of cells in particular tissues, specifically the brain, skeleton, and skin, cause many of the signs and symptoms of multiple sulfatase deficiency.  Research indicates that mutations that lead to reduced FGE enzyme function are associated with the less severe cases of the condition, whereas mutations that lead to the production of an unstable FGE enzyme tend to be associated with the more severe cases of multiple sulfatase deficiency.
Question: What is (are) 18q deletion syndrome ?

Answer: 18q deletion syndrome is a chromosomal condition that results when a piece of chromosome 18 is missing. The condition can lead to a wide variety of signs and symptoms among affected individuals.  Most people with 18q deletion syndrome have intellectual disability and delayed development that can range from mild to severe, but some affected individuals have normal intelligence and development. Seizures, hyperactivity, aggression, and autistic behaviors that affect communication and social interaction may also occur. Some people with 18q deletion syndrome have a loss of tissue called white matter in the brain and spinal cord (leukodystrophy), structural abnormalities of the brain, or an abnormally small head size (microcephaly).  Other features that are common in 18q deletion syndrome include short stature, weak muscle tone (hypotonia), narrow auditory canals leading to hearing loss, and limb abnormalities such as foot deformities and thumbs that are positioned unusually close to the wrist. Some affected individuals have mild facial differences such as deep-set eyes, a flat or sunken appearance of the middle of the face (midface hypoplasia), a wide mouth, and prominent ears; these features are often not noticeable except in a detailed medical evaluation. Eye movement disorders and other vision problems, genital abnormalities, heart disease, and skin problems may also occur in this disorder.
Question: What are the genetic changes related to collagen VI-related myopathy ?

Answer: Mutations in the COL6A1, COL6A2, and COL6A3 genes can cause the various forms of collagen VI-related myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells and connective tissue. This matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen helps secure and organize the extracellular matrix by linking the matrix to the cells it surrounds.  Mutations in the COL6A1, COL6A2, and COL6A3 genes result in a decrease or lack of type VI collagen or the production of abnormal type VI collagen. While it is difficult to predict which type of mutation will lead to which form of collagen VI-related myopathy, in general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life.  Changes in type VI collagen structure or production lead to an unstable extracellular matrix that is no longer attached to cells. As a result, the stability of the surrounding muscle cells and connective tissue progressively declines, which leads to the muscle weakness, contractures, and other signs and symptoms of collagen VI-related myopathy.
Question: What are the genetic changes related to actin-accumulation myopathy ?

Answer: Actin-accumulation myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is a member of the actin protein family found in skeletal muscles. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made up of actin molecules and thick filaments made up of another protein called myosin are the primary components of muscle fibers and are important for muscle contraction. Attachment (binding) and release of the overlapping thick and thin filaments allows them to move relative to each other so that the muscles can contract.  ACTA1 gene mutations that cause actin-accumulation myopathy may affect the way the skeletal -actin protein binds to ATP. ATP is a molecule that supplies energy for cells' activities, and is important in the formation of thin filaments from individual actin molecules. Dysfunctional actin-ATP binding may result in abnormal thin filament formation and impair muscle contraction, leading to muscle weakness and the other signs and symptoms of actin-accumulation myopathy.  In some people with actin-accumulation myopathy, no ACTA1 gene mutations have been identified. The cause of the disorder in these individuals is unknown.
Question: What is (are) Kidney Dysplasia ?

Answer: Kidney dysplasia is a condition in which the internal structures of one or both of a fetus kidneys do not develop normally while in the womb. During normal development, two thin tubes of muscle called ureters grow into the kidneys and branch out to form a network of tiny structures called tubules. The tubules collect urine as the fetus grows in the womb. In kidney dysplasia, the tubules fail to branch out completely. Urine that would normally flow through the tubules has nowhere to go. Urine collects inside the affected kidney and forms fluid-filled sacs called cysts. The cysts replace normal kidney tissue and prevent the kidney from functioning.
                
Kidney dysplasia can affect one kidney or both kidneys. Babies with severe kidney dysplasia affecting both kidneys generally do not survive birth. Those who do survive may need the following early in life:
                
- blood-filtering treatments called dialysis  - a kidney transplant
                
Children with dysplasia in only one kidney have normal kidney function if the other kidney is unaffected. Those with mild dysplasia of both kidneys may not need dialysis or a kidney transplant for several years.
                
Kidney dysplasia is also called renal dysplasia or multicystic dysplastic kidney.
Question: What are the symptoms of Paine syndrome ?

Answer: What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine 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) Generalized myoclonic seizures - Microcephaly - Olivopontocerebellar hypoplasia - Spastic diplegia - X-linked inheritance - 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.