sarnsrun/medquadmini huggingface dataset:
Question:
How many people are affected by breast cancer ?

Answer:
Breast cancer is the second most commonly diagnosed cancer in women. (Only skin cancer is more common.) About one in eight women in the United States will develop invasive breast cancer in her lifetime. Researchers estimate that more than 230,000 new cases of invasive breast cancer will be diagnosed in U.S. women in 2015.  Male breast cancer represents less than 1 percent of all breast cancer diagnoses. Scientists estimate that about 2,300 new cases of breast cancer will be diagnosed in men in 2015.  Particular gene mutations associated with breast cancer are more common among certain geographic or ethnic groups, such as people of Ashkenazi (central or eastern European) Jewish heritage and people of Norwegian, Icelandic, or Dutch ancestry.
Question:
Is breast cancer inherited ?

Answer:
Most cases of breast cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations in breast cells that are acquired during a person's lifetime, and they do not cluster in families.  In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. Although breast cancer is more common in women than in men, the mutated gene can be inherited from either the mother or the father.  In the other syndromes discussed above, the gene mutations that increase cancer risk also have an autosomal dominant pattern of inheritance. It is important to note that people inherit an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in these genes will ultimately develop cancer.  In many cases of breast cancer that clusters in families, the genetic basis for the disease and the mechanism of inheritance are unclear.
Question:
What are the treatments for breast cancer ?

Answer:
These resources address the diagnosis or management of breast cancer:  - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer  - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer  - Gene Review: Gene Review: Li-Fraumeni Syndrome  - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS)  - Gene Review: Gene Review: Peutz-Jeghers Syndrome  - Genetic Testing Registry: Familial cancer of breast  - Genomics Education Programme (UK): Hereditary Breast and Ovarian Cancer  - National Cancer Institute: Breast Cancer Risk Assessment Tool  - National Cancer Institute: Genetic Testing for BRCA1 and BRCA2: It's Your Choice  - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes   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 is (are) transthyretin amyloidosis ?

Answer:
Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.  There are three major forms of transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect.  The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. Impairments in bodily functions can include sexual impotence, diarrhea, constipation, problems with urination, and a sharp drop in blood pressure upon standing (orthostatic hypotension). Some people experience heart and kidney problems as well. Various eye problems may occur, such as cloudiness of the clear gel that fills the eyeball (vitreous opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an irregular or "scalloped" appearance. Some people with this form of transthyretin amyloidosis develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers.  The leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system. In people with this form, amyloidosis occurs in the leptomeninges, which are two thin layers of tissue that cover the brain and spinal cord. A buildup of protein in this tissue can cause stroke and bleeding in the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). Eye problems similar to those in the neuropathic form may also occur. When people with leptomeningeal transthyretin amyloidosis have associated eye problems, they are said to have the oculoleptomeningeal form.  The cardiac form of transthyretin amyloidosis affects the heart. People with cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged heart (cardiomegaly), or orthostatic hypertension. These abnormalities can lead to progressive heart failure and death. Occasionally, people with the cardiac form of transthyretin amyloidosis have mild peripheral neuropathy.
Question:
How many people are affected by transthyretin amyloidosis ?

Answer:
The exact incidence of transthyretin amyloidosis is unknown. In northern Portugal, the incidence of this condition is thought to be one in 538 people. Transthyretin amyloidosis is less common among Americans of European descent, where it is estimated to affect one in 100,000 people. The cardiac form of transthyretin amyloidosis is more common among people with African ancestry. It is estimated that this form affects between 3 percent and 3.9 percent of African Americans and approximately 5 percent of people in some areas of West Africa.
Question:
What are the genetic changes related to transthyretin amyloidosis ?

Answer:
Mutations in the TTR gene cause transthyretin amyloidosis. The TTR gene provides instructions for producing a protein called transthyretin. Transthyretin transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport retinol and thyroxine, four transthyretin proteins must be attached (bound) to each other to form a four-protein unit (tetramer). Transthyretin is produced primarily in the liver. A small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina).  TTR gene mutations are thought to alter the structure of transthyretin, impairing its ability to bind to other transthyretin proteins and altering its normal function.
Question:
Is transthyretin amyloidosis inherited ?

Answer:
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 cases, an affected person inherits the mutation from one affected parent. Rarely, cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Not all people who have a TTR gene mutation will develop transthyretin amyloidosis.
Question:
What are the treatments for transthyretin amyloidosis ?

Answer:
These resources address the diagnosis or management of transthyretin amyloidosis:  - Boston University: Amyloid Treatment & Research Program  - Gene Review: Gene Review: Familial Transthyretin Amyloidosis  - Genetic Testing Registry: Amyloidogenic transthyretin amyloidosis  - MedlinePlus Encyclopedia: Autonomic neuropathy   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 is (are) caudal regression syndrome ?

Answer:
Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.  In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. Affected individuals may have incomplete closure of the vertebrae around the spinal cord, a fluid-filled sac on the back covered by skin that may or may not contain part of the spinal cord, or tufts of hair at the base of the spine. People with caudal regression syndrome can also have an abnormal side-to-side curvature of the spine (scoliosis). The spinal abnormalities may affect the size and shape of the chest, leading to breathing problems in some individuals.  Individuals with caudal regression syndrome may have small hip bones with a limited range of motion. The buttocks tend to be flat and dimpled. The bones of the legs are typically underdeveloped, most frequently the upper leg bones (femurs). In some individuals, the legs are bent with the knees pointing out to the side and the feet tucked underneath the hips (sometimes called a frog leg-like position). Affected individuals may be born with inward- and upward-turning feet (clubfeet), or the feet may be outward- and upward-turning (calcaneovalgus). Some people experience decreased sensation in their lower limbs.  Abnormalities in the genitourinary tract in caudal regression syndrome are extremely varied. Often the kidneys are malformed; defects include a missing kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe kidney), or duplication of the tubes that carry urine from each kidney to the bladder (ureteral duplication). These kidney abnormalities can lead to frequent urinary tract infections and progressive kidney failure. Additionally, affected individuals may have protrusion of the bladder through an opening in the abdominal wall (bladder exstrophy). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Genital abnormalities in males can include the urethra opening on the underside of the penis (hypospadia) or undescended testes (cryptorchidism). Females may have an abnormal connection between the rectum and vagina (rectovaginal fistula). In severe cases, both males and females have a lack of development of the genitalia (genital agenesis).  People with caudal regression syndrome may have abnormal twisting (malrotation) of the large intestine, an obstruction of the anal opening (imperforate anus), soft out-pouchings in the lower abdomen (inguinal hernias), or other malformations of the gastrointestinal tract. Affected individuals are often constipated and may experience loss of control of bladder and bowel function.
Question:
How many people are affected by caudal regression syndrome ?

Answer:
Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 newborns. This condition is much more common in infants born to mothers with diabetes when it affects an estimated 1 in 350 newborns.
Question:
What are the genetic changes related to caudal regression syndrome ?

Answer:
Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. It is thought that increased blood sugar levels and other metabolic problems related to diabetes may have a harmful effect on a developing fetus, increasing the likelihood of developing caudal regression syndrome. The risks to the fetus are further increased if the mother's diabetes is poorly managed. Caudal regression syndrome also occurs in infants of non-diabetic mothers, so researchers are trying to identify other factors that contribute to the development of this complex disorder.  Some researchers believe that a disruption of fetal development around day 28 of pregnancy causes caudal regression syndrome. The developmental problem is thought to affect the middle layer of embryonic tissue known as the mesoderm. Disruption of normal mesoderm development impairs normal formation of parts of the skeleton, gastrointestinal system, and genitourinary system.  Other researchers think that caudal regression syndrome results from the presence of an abnormal artery in the abdomen, which diverts blood flow away from the lower areas of the developing fetus. Decreased blood flow to these areas is thought to interfere with their development and result in the signs and symptoms of caudal regression syndrome.  Some scientists believe that the abnormal development of the mesoderm causes the reduction of blood flow, while other scientists believe that the reduction in blood flow causes the abnormal mesoderm development. Many scientists think that the cause of caudal regression syndrome is a combination of abnormal mesoderm development and decreased blood flow to the caudal areas of the fetus.
Question:
Is caudal regression syndrome inherited ?

Answer:
Caudal regression syndrome occurs sporadically, which means it occurs in people with no history of the condition in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition.
Question:
What are the treatments for caudal regression syndrome ?

Answer:
These resources address the diagnosis or management of caudal regression syndrome:  - MedlinePlus Encyclopedia: Bladder Exstrophy Repair  - MedlinePlus Encyclopedia: Clubfoot  - MedlinePlus Encyclopedia: Inguinal Hernia Repair  - MedlinePlus Encyclopedia: Neurogenic Bladder   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 is (are) systemic lupus erythematosus ?

Answer:
Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.  SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of blood clotting cells called platelets that leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.  About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.  People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.
Question:
How many people are affected by systemic lupus erythematosus ?

Answer:
For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. It is most common in younger women; however, 20 percent of SLE cases occur in people over age 50. Because many of the signs and symptoms of SLE resemble those of other disorders, diagnosis may be delayed for years, and the condition may never be diagnosed in some affected individuals.  In industrialized Western countries, people of African and Asian descent are two to four times more likely to develop SLE than are people of European descent. However, while the prevalence of SLE in Africa and Asia is unknown, it is believed to be much lower than in Western nations. Researchers suggest that factors such as ethnic mixing, tobacco use in industrialized countries, and the different types of infections people acquire in different regions may help account for the discrepancy. For example malaria, which occurs often in tropical regions, is thought to be protective against SLE, while the Epstein-Barr virus, more common in the West, increases SLE risk.
Question:
What are the genetic changes related to systemic lupus erythematosus ?

Answer:
Normal variations (polymorphisms) in many genes can affect the risk of developing SLE, and in most cases multiple genetic factors are thought to be involved. In rare cases, SLE is caused by mutations in single genes. Most of the genes associated with SLE are involved in immune system function, and variations in these genes likely affect proper targeting and control of the immune response. Sex hormones and a variety of environmental factors including viral infections, diet, stress, chemical exposures, and sunlight are also thought to play a role in triggering this complex disorder. About 10 percent of SLE cases are thought to be triggered by drug exposure, and more than 80 drugs that may be involved have been identified.  In people with SLE, cells that have undergone self-destruction (apoptosis) because they are damaged or no longer needed are not cleared away properly. The relationship of this loss of function to the cause or features of SLE is unclear. Researchers suggest that these dead cells may release substances that cause the immune system to react inappropriately and attack the body's tissues, resulting in the signs and symptoms of SLE.
Question:
Is systemic lupus erythematosus inherited ?

Answer:
SLE and other autoimmune disorders tend to run in families, but the inheritance pattern is usually unknown. People may inherit a gene variation that increases or decreases the risk of SLE, but in most cases do not inherit the condition itself. Not all people with SLE have a gene variation that increases the risk, and not all people with such a gene variation will develop the disorder.  In rare cases, SLE can be 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.
Question:
What are the treatments for systemic lupus erythematosus ?

Answer:
These resources address the diagnosis or management of systemic lupus erythematosus:  - MedlinePlus Encyclopedia: Antinuclear Antibody Panel   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 is (are) ataxia with vitamin E deficiency ?

Answer:
Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.
Question:
How many people are affected by ataxia with vitamin E deficiency ?

Answer:
Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown.
Question:
What are the genetic changes related to ataxia with vitamin E deficiency ?

Answer:
Mutations in the TTPA gene cause ataxia with vitamin E deficiency. The TTPA gene provides instructions for making the -tocopherol transfer protein (TTP), which is found in the liver and brain. This protein controls distribution of vitamin E obtained from the diet (also called -tocopherol) to cells and tissues throughout the body. Vitamin E helps cells prevent damage that might be done by free radicals.  TTPA gene mutations impair the activity of the TTP protein, resulting in an inability to retain and use dietary vitamin E. As a result, vitamin E levels in the blood are greatly reduced and free radicals accumulate within cells. Nerve cells (neurons) in the brain and spinal cord (central nervous system) are particularly vulnerable to the damaging effects of free radicals and these cells die off when they are deprived of vitamin E. Nerve cell damage can lead to problems with movement and other features of ataxia with vitamin E deficiency.
Question:
Is ataxia with vitamin E deficiency inherited ?

Answer:
This condition is 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.