umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Von Willebrand Disease ?

Answer: Von Willebrand disease (VWD) is a bleeding disorder. It affects your blood's ability to clot. If your blood doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs. Rarely, the bleeding may even cause death.
                
In VWD, you either have low levels of a certain protein in your blood or the protein doesn't work well. The protein is called von Willebrand factor, and it helps your blood clot.
                
Normally, when one of your blood vessels is injured, you start to bleed. Small blood cell fragments called platelets (PLATE-lets) clump together to plug the hole in the blood vessel and stop the bleeding. Von Willebrand factor acts like glue to help the platelets stick together and form a blood clot.
                
Von Willebrand factor also carries clotting factor VIII (8), another important protein that helps your blood clot. Factor VIII is the protein that's missing or doesn't work well in people who have hemophilia, another bleeding disorder.
                
VWD is more common and usually milder than hemophilia. In fact, VWD is the most common inherited bleeding disorder. It occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females, while hemophilia mainly affects males.
                
Types of von Willebrand Disease
                
The three major types of VWD are called type 1, type 2, and type 3.
                
Type 1
                
People who have type 1 VWD have low levels of von Willebrand factor and may have low levels of factor VIII. Type 1 is the mildest and most common form of VWD. About 3 out of 4 people who have VWD have type 1.
                
Type 2
                
In type 2 VWD, the von Willebrand factor doesn't work well. Type 2 is divided into subtypes: 2A, 2B, 2M, and 2N. Different gene mutations (changes) cause each type, and each is treated differently. Thus, it's important to know the exact type of VWD that you have.
                
Type 3
                
People who have type 3 VWD usually have no von Willebrand factor and low levels of factor VIII. Type 3 is the most serious form of VWD, but it's very rare.
                
Overview
                
Most people who have VWD have type 1, a mild form. This type usually doesn't cause life-threatening bleeding. You may need treatment only if you have surgery, tooth extraction, or trauma. Treatment includes medicines and medical therapies.
                
Some people who have severe forms of VWD need emergency treatment to stop bleeding before it becomes life threatening.
                
Early diagnosis is important. With the proper treatment plan, even people who have type 3 VWD can live normal, active lives.
Question: What causes Insulin Resistance and Prediabetes ?

Answer: Although the exact causes of insulin resistance are not completely understood, scientists think the major contributors to insulin resistance are excess weight and physical inactivity.
                
Excess Weight
                
Some experts believe obesity, especially excess fat around the waist, is a primary cause of insulin resistance. Scientists used to think that fat tissue functioned solely as energy storage. However, studies have shown that belly fat produces hormones and other substances that can cause serious health problems such as insulin resistance, high blood pressure, imbalanced cholesterol, and cardiovascular disease (CVD).
                
Belly fat plays a part in developing chronic, or long-lasting, inflammation in the body. Chronic inflammation can damage the body over time, without any signs or symptoms. Scientists have found that complex interactions in fat tissue draw immune cells to the area and trigger low-level chronic inflammation. This inflammation can contribute to the development of insulin resistance, type 2 diabetes, and CVD. Studies show that losing the weight can reduce insulin resistance and prevent or delay type 2 diabetes.
                
Physical Inactivity
                
Many studies have shown that physical inactivity is associated with insulin resistance, often leading to type 2 diabetes. In the body, more glucose is used by muscle than other tissues. Normally, active muscles burn their stored glucose for energy and refill their reserves with glucose taken from the bloodstream, keeping blood glucose levels in balance.
                
Studies show that after exercising, muscles become more sensitive to insulin, reversing insulin resistance and lowering blood glucose levels. Exercise also helps muscles absorb more glucose without the need for insulin. The more muscle a body has, the more glucose it can burn to control blood glucose levels.
                
Other Causes
                
Other causes of insulin resistance may include ethnicity; certain diseases; hormones; steroid use; some medications; older age; sleep problems, especially sleep apnea; and cigarette smoking.
                

                
Does sleep matter?   Yes. Studies show that untreated sleep problems, especially sleep apnea, can increase the risk of obesity, insulin resistance, and type 2 diabetes. Night shift workers may also be at increased risk for these problems. Sleep apnea is a common disorder in which a person's breathing is interrupted during sleep. People may often move out of deep sleep and into light sleep when their breathing pauses or becomes shallow. This results in poor sleep quality that causes problem sleepiness, or excessive tiredness, during the day.   Many people aren't aware of their symptoms and aren't diagnosed. People who think they might have sleep problems should talk with their health care provider.   More information about sleep problems is available from the National Heart, Lung, and Blood Institute at http://www.nhlbi.nih.gov/health/resources/sleep.
Question: What are the symptoms of McKusick Kaufman syndrome ?

Answer: What are the signs and symptoms of McKusick Kaufman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McKusick Kaufman 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) Cryptorchidism 50% Displacement of the external urethral meatus 50% Postaxial hand polydactyly 50% Urogenital sinus anomaly 50% Abnormality of the metacarpal bones 7.5% Aganglionic megacolon 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Finger syndactyly 7.5% Hypoplastic left heart 7.5% Multicystic kidney dysplasia 7.5% Patent ductus arteriosus 7.5% Postaxial foot polydactyly 7.5% Renal hypoplasia/aplasia 7.5% Short stature 7.5% Tarsal synostosis 7.5% Tetralogy of Fallot 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Anal atresia - Autosomal recessive inheritance - Congenital hip dislocation - Edema - Edema of the lower limbs - Hydrometrocolpos - Hydronephrosis - Hydroureter - Mesoaxial hand polydactyly - Polycystic kidney dysplasia - Pulmonary hypoplasia - Rectovaginal fistula - Syndactyly - Transverse vaginal septum - Vaginal atresia - Vesicovaginal fistula - 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 Kaufman oculocerebrofacial syndrome ?

Answer: What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial 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 calvarial morphology 90% Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Microcephaly 90% Optic atrophy 90% Respiratory insufficiency 90% Upslanted palpebral fissure 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the eyebrow 50% Blepharophimosis 50% Epicanthus 50% Long face 50% Microcornea 50% Microdontia 50% Muscle weakness 50% Myopia 50% Narrow face 50% Nystagmus 50% Preauricular skin tag 50% Short philtrum 50% Strabismus 50% Telecanthus 50% Thin vermilion border 50% Wide mouth 50% Choroideremia 7.5% Female pseudohermaphroditism 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Brachycephaly - Carious teeth - Clinodactyly of the 5th finger - Clitoromegaly - Constipation - Diastema - High palate - Intellectual disability - Laryngeal stridor - Long palm - Muscular hypotonia - Narrow palm - Neonatal respiratory distress - Optic disc pallor - Ovoid vertebral bodies - Ptosis - Short nose - Single transverse palmar crease - Smooth philtrum - Sparse eyebrow - 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) SLC4A1-associated distal renal tubular acidosis ?

Answer: SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. This chemical imbalance is called metabolic acidosis. The inability to remove acids from the body often results in slowed growth and may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, most children and adults with SLC4A1-associated distal renal tubular acidosis have excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals may also have low levels of potassium in the blood (hypokalemia).  Individuals with the features described above have complete distal renal tubular acidosis, which usually becomes apparent in childhood. Some people do not develop metabolic acidosis even though their kidneys have trouble removing acids; these individuals are said to have incomplete distal renal tubular acidosis. Additionally, these individuals may have other features of distal renal tubular acidosis, such as bone problems and kidney stones. Often, people who initially have incomplete distal renal tubular acidosis develop metabolic acidosis later in life.  Some people with SLC4A1-associated distal renal tubular acidosis also have blood cell abnormalities. These can vary in severity from no symptoms to a condition called hemolytic anemia, in which red blood cells prematurely break down (undergo hemolysis), causing a shortage of red blood cells (anemia). Hemolytic anemia can lead to unusually pale skin (pallor), extreme tiredness (fatigue), shortness of breath (dyspnea), and an enlarged spleen (splenomegaly).  There are two forms of SLC4A1-associated distal renal tubular acidosis; they are distinguished by their inheritance pattern (described below). The autosomal dominant form is more common and is usually less severe than the autosomal recessive form. The autosomal dominant form can be associated with incomplete or complete distal renal tubular acidosis and is rarely associated with blood cell abnormalities. The autosomal recessive form is always associated with complete distal renal tubular acidosis and is more commonly associated with blood cell abnormalities, although not everyone with this form has abnormal blood cells.
Question: What is (are) neuromyelitis optica ?

Answer: Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition.  Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the nerve that carries information from the eye to the brain (optic nerve). Optic neuritis causes eye pain and vision loss, which can occur in one or both eyes.  Neuromyelitis optica is also characterized by transverse myelitis, which is inflammation of the spinal cord. The inflammation associated with transverse myelitis damages the spinal cord, causing a lesion that often extends the length of three or more bones of the spine (vertebrae). In addition, myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness, and paralysis of the arms and legs. Other effects of spinal cord damage can include disturbances in sensations, loss of bladder and bowel control, uncontrollable hiccupping, and nausea. In addition, muscle weakness may make breathing difficult and can cause life-threatening respiratory failure in people with neuromyelitis optica.  There are two forms of neuromyelitis optica, the relapsing form and the monophasic form. The relapsing form is most common. This form is characterized by recurrent episodes of optic neuritis and transverse myelitis. These episodes can be months or years apart, and there is usually partial recovery between episodes. However, most affected individuals eventually develop permanent muscle weakness and vision impairment that persist even between episodes. For unknown reasons, approximately nine times more women than men have the relapsing form. The monophasic form, which is less common, causes a single episode of neuromyelitis optica that can last several months. People with this form of the condition can also have lasting muscle weakness or paralysis and vision loss. This form affects men and women equally. The onset of either form of neuromyelitis optica can occur anytime from childhood to adulthood, although the condition most frequently begins in a person's forties.  Approximately one-quarter of individuals with neuromyelitis optica have signs or symptoms of another autoimmune disorder such as myasthenia gravis, systemic lupus erythematosus, or Sjgren syndrome. Some scientists believe that a condition described in Japanese patients as optic-spinal multiple sclerosis (or opticospinal multiple sclerosis) that affects the nerves of the eyes and central nervous system is the same as neuromyelitis optica.
Question: What are the genetic changes related to spinocerebellar ataxia type 36 ?

Answer: SCA36 is caused by mutations in the NOP56 gene. The NOP56 gene provides instructions for making a protein called nucleolar protein 56, which is primarily found in the nucleus of nerve cells (neurons), particularly those in the cerebellum. This protein is one part (subunit) of the ribonucleoprotein complex, which is composed of proteins and molecules of RNA, DNA's chemical cousin. The ribonucleoprotein complex is needed to make cellular structures called ribosomes, which process the cell's genetic instructions to create proteins.  The NOP56 gene mutations that cause SCA36 involve a string of six DNA building blocks (nucleotides) located in an area of the gene known as intron 1. This string of six nucleotides (known as a hexanucleotide) is represented by the letters GGCCTG and normally appears multiple times in a row. In healthy individuals, GGCCTG is repeated 3 to 14 times within the gene. In people with SCA36, GGCCTG is repeated at least 650 times. It is unclear if 15 to 649 repeats of this hexanucleotide cause any signs or symptoms.  To make proteins from the genetic instructions carried in genes, a molecule called messenger RNA (mRNA) is formed. This molecule acts as a genetic blueprint for protein production. However, a large increase in the number of GGCCTG repeats in the NOP56 gene disrupts the normal structure of NOP56 mRNA. Abnormal NOP56 mRNA molecules form clumps called RNA foci within the nucleus of neurons. Other proteins become trapped in the RNA foci, where they cannot function. These proteins may be important for controlling gene activity or protein production.  Additionally, researchers believe that the large expansion of the hexanucleotide repeat in the NOP56 gene may reduce the activity of a nearby gene called MIR1292. The MIR1292 gene provides instructions for making a type of RNA that regulates the activity (expression) of genes that produce proteins called glutamate receptors. These proteins are found on the surface of neurons and allow these cells to communicate with one another. A decrease in the production of Mir1292 RNA can lead to an increase in the production of glutamate receptors. The increased receptor activity may overexcite neurons, which disrupts normal communication between cells and can contribute to ataxia.  The combination of RNA foci and overly excited neurons likely leads to the death of these cells over time. Because the NOP56 gene is especially active in neurons in the cerebellum, these cells are particularly affected by expansion of the gene, leading to cerebellar atrophy. Deterioration in this part of the brain leads to ataxia and the other signs and symptoms of SCA36.
Question: What are the symptoms of Platyspondylic lethal skeletal dysplasia Torrance type ?

Answer: What are the signs and symptoms of Platyspondylic lethal skeletal dysplasia Torrance type? The Human Phenotype Ontology provides the following list of signs and symptoms for Platyspondylic lethal skeletal dysplasia Torrance 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 epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short distal phalanx of finger 90% Short stature 90% Short thorax 90% Short toe 90% Aplasia/Hypoplasia of the lungs 50% Depressed nasal bridge 50% Genu varum 50% Hydrops fetalis 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Polyhydramnios 50% Sprengel anomaly 50% Cleft palate 7.5% Abnormality of the abdominal wall - Autosomal dominant inheritance - Coarse facial features - Decreased cranial base ossification - Disc-like vertebral bodies - Flat acetabular roof - Hypoplastic ilia - Hypoplastic ischia - Hypoplastic pubic bone - Lethal skeletal dysplasia - Macrocephaly - Metaphyseal cupping - Neonatal short-limb short stature - Protuberant abdomen - Severe limb shortening - Severe platyspondyly - Short long bone - Short neck - Short ribs - Thin ribs - 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.