sarnsrun/medquad huggingface dataset:
Topic: lung cancer
Question: What are the treatments for lung cancer ?
Answer: These resources address the diagnosis or management of lung cancer:  - Genetic Testing Registry: Lung cancer  - Genetic Testing Registry: Non-small cell lung cancer  - Lung Cancer Mutation Consortium: About Mutation Testing  - MedlinePlus Encyclopedia: Lung Cancer--Non-Small Cell  - MedlinePlus Encyclopedia: Lung Cancer--Small Cell  - National Cancer Institute: Drugs Approved for Lung Cancer  - National Cancer Institute: Non-Small Cell Lung Cancer Treatment  - National Cancer Institute: Small Cell Lung Cancer Treatment   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
Source: GHR
Topic: hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Question: What is (are) hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
Answer: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. In people with HANAC syndrome, angiopathy affects several parts of the body. The blood vessels as well as thin sheet-like structures called basement membranes that separate and support cells are weakened and more susceptible to breakage.  People with HANAC syndrome develop kidney disease (nephropathy). Fragile or damaged blood vessels or basement membranes in the kidneys can lead to blood in the urine (hematuria). Cysts can also form in one or both kidneys, and the cysts may grow larger over time.  Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. People with this condition may have a bulge in one or multiple blood vessels in the brain (intracranial aneurysms). These aneurysms have the potential to burst, causing bleeding within the brain (hemorrhagic stroke). However, in people with HANAC syndrome, these aneurysms typically do not burst. About half of people with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).  Muscle cramps experienced by most people with HANAC syndrome typically begin in early childhood. Any muscle may be affected, and cramps usually last from a few seconds to a few minutes, although in some cases they can last for several hours. Muscle cramps can be spontaneous or triggered by exercise.  Individuals with HANAC syndrome also experience a variety of eye problems. All individuals with this condition have arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eyes (arterial retinal tortuosity). This blood vessel abnormality can cause episodes of bleeding within the eyes following any minor trauma to the eyes, leading to temporary vision loss. Other eye problems associated with HANAC syndrome include a clouding of the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly is associated with various other eye abnormalities, including underdevelopment and eventual tearing of the colored part of the eye (iris), and a pupil that is not in the center of the eye.  Rarely, affected individuals will have a condition called Raynaud phenomenon in which the blood vessels in the fingers and toes temporarily narrow, restricting blood flow to the fingertips and the ends of the toes. As a result, the skin around the affected area may turn white or blue for a brief period of time and the area may tingle or throb. Raynaud phenomenon is typically triggered by changes in temperature and usually causes no long term damage.
Source: GHR
Topic: hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Question: How many people are affected by hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
Answer: HANAC syndrome is a rare condition, although the exact prevalence is unknown. At least six affected families have been described in the scientific literature.
Source: GHR
Topic: hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Question: What are the genetic changes related to hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
Answer: Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature).  The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken.
Source: GHR
Topic: hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Question: Is hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 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.
Source: GHR
Topic: hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Question: What are the treatments for hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
Answer: These resources address the diagnosis or management of HANAC syndrome:  - Gene Review: Gene Review: COL4A1-Related Disorders  - Genetic Testing Registry: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps   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
Source: GHR
Topic: breast cancer
Question: What is (are) breast cancer ?
Answer: Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare.  In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.  In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.  A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.
Source: GHR
Topic: breast cancer
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.
Source: GHR
Topic: breast cancer
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.
Source: GHR
Topic: breast cancer
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
Source: GHR
Topic: transthyretin amyloidosis
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.
Source: GHR
Topic: transthyretin amyloidosis
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.
Source: GHR
Topic: transthyretin amyloidosis
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.
Source: GHR
Topic: transthyretin amyloidosis
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.
Source: GHR
Topic: 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
Source: GHR
Topic: caudal regression syndrome
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.
Source: GHR
Topic: caudal regression syndrome
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.
Source: GHR
Topic: caudal regression syndrome
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.
Source: GHR
Topic: caudal regression syndrome
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.
Source: GHR
Topic: caudal regression syndrome
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
Source: GHR