sarnsrun/medquadmini huggingface dataset:
Question:
What are the treatments for Amyloidosis AA ?

Answer:
What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for patients. Medscape Reference provides current and comprehensive information on medical treatment options for amyloidosis AA based on the underlying inflammatory disease or infection. Please visit the link below. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/335559-treatment#showall Kidney transplant is an important option in patients with amyloidosis AA in which stable control of the underlying disease has been achieved. However, appropriate patient selection is strongly recommended due to a higher incidence of heart failure and infections in AA individuals. Currently there is a clinical study on the safety and effectiveness of the medication KIACTA in preventing decline of renal function in patients with amyloidosis AA. CLICK HERE to learn more about this study including the six study locations within the United States.
Question:
What is (are) Brachydactyly type C ?

Answer:
Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.
Question:
What are the symptoms of Brachydactyly type C ?

Answer:
What are the signs and symptoms of Brachydactyly type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type C. 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 metacarpal bones 90% Brachydactyly syndrome 90% Cone-shaped epiphyses of the middle phalanges of the hand 90% Pseudoepiphyses of the 2nd finger 90% Pseudoepiphyses of the 3rd finger 90% Short 2nd finger 90% Short 3rd finger 90% Short middle phalanx of finger 90% Ulnar deviation of finger 90% Clinodactyly of the 5th finger 75% Enlarged epiphysis of the middle phalanx of the 2nd finger 75% Enlarged epiphysis of the middle phalanx of the 3rd finger 75% Enlarged epiphysis of the proximal phalanx of the 2nd finger 75% Enlarged epiphysis of the proximal phalanx of the 3rd finger 75% Short 1st metacarpal 75% Triangular epiphysis of the middle phalanx of the 2nd finger 75% Triangular epiphysis of the middle phalanx of the 3rd finger 75% Triangular epiphysis of the proximal phalanx of the 2nd finger 75% Triangular epiphysis of the proximal phalanx of the 3rd finger 75% Triangular shaped middle phalanx of the 2nd finger 75% Triangular shaped middle phalanx of the 3rd finger 75% Triangular shaped proximal phalanx of the 2nd finger 75% Triangular shaped proximal phalanx of the 3rd finger 75% Abnormality of the fingernails 50% Cone-shaped epiphysis 50% Short toe 50% Ulnar deviation of the 2nd finger 50% Ulnar deviation of the 3rd finger 50% Short stature 33% Delayed skeletal maturation 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Talipes equinovalgus 7.5% Talipes equinovarus 7.5% Autosomal dominant inheritance - Hypersegmentation of proximal phalanx of second finger - Hypersegmentation of proximal phalanx of third finger - Madelung deformity - Polydactyly - 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 Say-Field-Coldwell syndrome ?

Answer:
What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Cognitive impairment 90% Preaxial hand polydactyly 90% Short stature 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Recurrent patellar 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 is (are) Tetralogy of Fallot ?

Answer:
Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). Tetralogy of Fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). The cause of this condition is unknown. Treatment involves surgery to repair the heart defects. Sometimes more than one surgery is needed.
Question:
What are the symptoms of Tetralogy of Fallot ?

Answer:
What are the signs and symptoms of Tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of Fallot. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Brachydactyly syndrome 90% Broad forehead 90% Clinodactyly of the 5th finger 90% Intrauterine growth retardation 90% Abnormality of periauricular region 50% Cryptorchidism 50% Dolichocephaly 50% Proptosis 50% Tetralogy of Fallot 50% Thin vermilion border 50% Underdeveloped supraorbital ridges 50% Autosomal dominant inheritance - Preauricular pit - 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) X-linked creatine deficiency ?

Answer:
X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.
Question:
What are the symptoms of X-linked creatine deficiency ?

Answer:
What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine 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) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of movement 50% Aganglionic megacolon 50% Autism 50% Constipation 50% Decreased body weight 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Incoordination 50% Intestinal obstruction 50% Muscular hypotonia 50% Open mouth 50% Seizures 50% Short stature 50% Cutis laxa 7.5% Joint hypermobility 7.5% Mask-like facies 7.5% Microcephaly 7.5% Ptosis 7.5% Aggressive behavior - Attention deficit hyperactivity disorder - Broad forehead - Delayed myelination - Delayed speech and language development - Dystonia - Exotropia - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Hypermetropia - Hypoplasia of midface - Hypoplasia of the corpus callosum - Ileus - Impaired social interactions - Infantile onset - Intellectual disability - Long face - Malar flattening - Mandibular prognathia - Motor delay - Myopathic facies - Narrow face - Neonatal hypotonia - Pes cavus - Poor hand-eye coordination - Spasticity - Stereotypic behavior - Tall stature - Underfolded superior helices - Vomiting - X-linked recessive 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.
Question:
What is (are) Neuronal ceroid lipofuscinosis 5 ?

Answer:
Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Question:
What are the symptoms of Neuronal ceroid lipofuscinosis 5 ?

Answer:
What are the signs and symptoms of Neuronal ceroid lipofuscinosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 5. 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) Cerebellar atrophy 5% Dysarthria 5% Dysdiadochokinesis 5% Dysmetria 5% Nystagmus 5% Abnormal nervous system electrophysiology - Autosomal recessive inheritance - Clumsiness - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Developmental regression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Increased neuronal autofluorescent lipopigment - Intellectual disability - Motor deterioration - Myoclonus - Progressive visual loss - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Retinal degeneration - Seizures - 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) Progressive transformation of germinal centers ?

Answer:
Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy).  Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes.  The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits.  Adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence).  PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.
Question:
What causes Progressive transformation of germinal centers ?

Answer:
What causes progressive transformation of germinal centers?  Is it genetic? The cause of progressive transformation of germinal centers (PTGC) is currently unknown.  Also, there is no evidence in the medical literature that PTGC is a genetic condition.
Question:
What are the treatments for Progressive transformation of germinal centers ?

Answer:
What treatment is available for progressive transformation of germinal centers? Because progressive transformation of germinal centers (PTGC) is considered a benign condition and usually has no symptoms other than the enlarged lymph node, no treatment is necessary. The enlarged lymph node may stay the same size or shrink over time.  Affected individuals should have regular follow-up visits with their physician; a biopsy should be taken of any new enlarged lymph node because PTGC is associated with Hodgkin lymphoma in some individuals.
Question:
What is (are) Barraquer-Simons syndrome ?

Answer:
Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years.  Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.
Question:
What are the symptoms of Barraquer-Simons syndrome ?

Answer:
What are the signs and symptoms of Barraquer-Simons syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barraquer-Simons 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) Lipoatrophy 90% Abnormality of complement system 50% Autoimmunity 50% Cognitive impairment 50% Glomerulopathy 50% Hearing impairment 50% Hematuria 50% Lymphocytosis 50% Myopathy 50% Prematurely aged appearance 50% Proteinuria 50% Seizures 50% Arthralgia 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Insulin resistance 7.5% Abnormality of lipid metabolism - Autosomal dominant inheritance - Decreased serum complement C3 - Diabetes mellitus - Hirsutism - Juvenile onset - Loss of subcutaneous adipose tissue from upper limbs - Loss of truncal subcutaneous adipose tissue - Membranoproliferative glomerulonephritis - Nephrotic syndrome - Phenotypic variability - Polycystic ovaries - Progressive loss of facial adipose tissue - Recurrent infections - Sporadic - 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 Barraquer-Simons syndrome ?

Answer:
How might Barraquer-Simons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques. No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status. If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure.
Question:
What is (are) Chromosome 4q deletion ?

Answer:
Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Question:
What are the symptoms of Chromosome 4q deletion ?

Answer:
What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs) Heart defects and/or arrhythmias Hypotonia (reduced muscle tone) Seizures Short stature Developmental delay Intellectual disability Metabolic disorders Gastrointestinal problems Kidney abnormalities
Question:
What causes Chromosome 4q deletion ?

Answer:
What causes chromosome 4q deletion? People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. The severity of the condition and the associated signs and symptoms vary depending on the size and location of the deletion and which genes are involved. For example, deletion of the following genes may contribute to the features seen in some affected people: BMP3 - skeletal abnormalities and short stature SEC31A - distinctive craniofacial features PKD2 - kidney abnormalities GRID2, NEUROG2 - neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc) ANK2, HAND2 - heart defects and/or arrhythmias FGF2 - limb (arms and legs) abnormalities Researchers are working to learn more about the other genes on 4q that may contribute to the features seen in people with a chromosome 4q deletion.
Question:
Is Chromosome 4q deletion inherited ?

Answer:
How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary between family members.