sarnsrun/medquad huggingface dataset:
Topic: frontotemporal dementia with parkinsonism-17
Question: What is (are) frontotemporal dementia with parkinsonism-17 ?
Answer: Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a progressive brain disorder that affects behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's forties or fifties. Most affected people survive 5 to 10 years after the appearance of symptoms, although a few have survived for two decades or more.  Changes in personality and behavior are often early signs of FTDP-17. These changes include a loss of inhibition, inappropriate emotional responses, restlessness, neglect of personal hygiene, and a general loss of interest in activities and events. The disease also leads to deterioration of cognitive functions (dementia), including problems with judgment, planning, and concentration. Some people with FTDP-17 develop psychiatric symptoms, including obsessive-compulsive behaviors, delusions, and hallucinations. It may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living.  Many people with FTDP-17 develop problems with speech and language. They may have trouble finding words, confuse one word with another (semantic paraphasias), and repeat words spoken by others (echolalia). Difficulties with speech and language worsen over time, and most affected individuals eventually lose the ability to communicate.  FTDP-17 is also characterized by progressive problems with movement. Many affected individuals develop features of parkinsonism, including tremors, rigidity, and unusually slow movement (bradykinesia). As the disease progresses, most affected individuals become unable to walk. Some people with FTDP-17 also have restricted up-and-down eye movement (vertical gaze palsy) and rapid abnormal movements of both eyes (saccades).
Source: GHR
Topic: frontotemporal dementia with parkinsonism-17
Question: How many people are affected by frontotemporal dementia with parkinsonism-17 ?
Answer: The worldwide prevalence of FTDP-17 is unknown. In the Netherlands, where the disease prevalence has been studied, it is estimated to affect 1 in 1 million people. However, the disorder is likely underdiagnosed, so it may actually be more common than this.  FTDP-17 probably accounts for a small percentage of all cases of frontotemporal dementia.
Source: GHR
Topic: frontotemporal dementia with parkinsonism-17
Question: What are the genetic changes related to frontotemporal dementia with parkinsonism-17 ?
Answer: FTDP-17 is caused by mutations in the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name.  The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in assembling and stabilizing microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.  Mutations in the MAPT gene disrupt the normal structure and function of tau. The defective protein assembles into abnormal clumps within neurons and other brain cells. However, it is unclear what effect these clumps have on cell function and survival. FTDP-17 is characterized by the gradual death of cells in areas of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. A loss of cells in these brain regions leads to personality changes, speech difficulties, and the other features of FTDP-17.  FTDP-17 is one of several related diseases known as tauopathies, which are characterized by an abnormal buildup of tau in the brain.
Source: GHR
Topic: frontotemporal dementia with parkinsonism-17
Question: Is frontotemporal dementia with parkinsonism-17 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: frontotemporal dementia with parkinsonism-17
Question: What are the treatments for frontotemporal dementia with parkinsonism-17 ?
Answer: These resources address the diagnosis or management of FTDP-17:  - Gene Review: Gene Review: MAPT-Related Disorders  - Genetic Testing Registry: Frontotemporal dementia   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: mitochondrial trifunctional protein deficiency
Question: What is (are) mitochondrial trifunctional protein deficiency ?
Answer: Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).  Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy).  Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
Source: GHR
Topic: mitochondrial trifunctional protein deficiency
Question: How many people are affected by mitochondrial trifunctional protein deficiency ?
Answer: Mitochondrial trifunctional protein deficiency is a rare disorder; its incidence is unknown.
Source: GHR
Topic: mitochondrial trifunctional protein deficiency
Question: What are the genetic changes related to mitochondrial trifunctional protein deficiency ?
Answer: Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.  Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all three functions of this enzyme complex. Without enough of this enzyme complex, long-chain fatty acids from food and body fat cannot be metabolized and processed. As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may also build up and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of mitochondrial trifunctional protein deficiency.
Source: GHR
Topic: mitochondrial trifunctional protein deficiency
Question: Is mitochondrial trifunctional protein 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.
Source: GHR
Topic: mitochondrial trifunctional protein deficiency
Question: What are the treatments for mitochondrial trifunctional protein deficiency ?
Answer: These resources address the diagnosis or management of mitochondrial trifunctional protein deficiency:  - Baby's First Test  - Genetic Testing Registry: Mitochondrial trifunctional protein deficiency  - MedlinePlus Encyclopedia: Hypoglycemia  - MedlinePlus Encyclopedia: Peripheral 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: Leydig cell hypoplasia
Question: What is (are) Leydig cell hypoplasia ?
Answer: Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.  In Leydig cell hypoplasia, affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Because of these abnormalities, the external genitalia may not look clearly male or clearly female (ambiguous genitalia).  In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. They have small testes that are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. People with this form of the disorder do not develop secondary sex characteristics, such as increased body hair, at puberty. Some researchers refer to this form of Leydig cell hypoplasia as type 1 and designate less severe cases as type 2.
Source: GHR
Topic: Leydig cell hypoplasia
Question: How many people are affected by Leydig cell hypoplasia ?
Answer: Leydig cell hypoplasia is a rare disorder; its prevalence is unknown.
Source: GHR
Topic: Leydig cell hypoplasia
Question: What are the genetic changes related to Leydig cell hypoplasia ?
Answer: Mutations in the LHCGR gene cause Leydig cell hypoplasia. The LHCGR gene provides instructions for making a protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function.  The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovary (ovulation). Chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue.  The LHCGR gene mutations that cause Leydig cell hypoplasia disrupt luteinizing hormone/chorionic gonadotropin receptor function, impeding the body's ability to react to these hormones. In males, the mutations result in poorly developed or absent Leydig cells and impaired production of testosterone. A lack of testosterone interferes with the development of male reproductive organs before birth and the changes that appear at puberty. Mutations that prevent the production of any functional receptor protein cause the more severe features of Leydig cell hypoplasia, and mutations that allow some receptor protein function cause milder signs and symptoms.
Source: GHR
Topic: Leydig cell hypoplasia
Question: Is Leydig cell hypoplasia 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.  Only people who have mutations in both copies of the LHCGR gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of Leydig cell hypoplasia. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the LHCGR gene, they do not have Leydig cell hypoplasia because they do not have Leydig cells. They have normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than usual (after age 16) and have irregular menstrual periods. LHCGR gene mutations in females also prevent ovulation, leading to inability to have children (infertility).
Source: GHR
Topic: Leydig cell hypoplasia
Question: What are the treatments for Leydig cell hypoplasia ?
Answer: These resources address the diagnosis or management of Leydig cell hypoplasia:  - Genetic Testing Registry: Leydig cell agenesis  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Hypospadias  - MedlinePlus Encyclopedia: Intersex   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: Mineral and Bone Disorder in Chronic Kidney Disease
Question: What is (are) Mineral and Bone Disorder in Chronic Kidney Disease ?
Answer: Mineral and bone disorder in CKD occurs when damaged kidneys and abnormal hormone levels cause calcium and phosphorus levels in a persons blood to be out of balance. Mineral and bone disorder commonly occurs in people with CKD and affects most people with kidney failure receiving dialysis.
                
In the past, health care providers used the term renal osteodystrophy to describe mineral and hormone disturbances caused by kidney disease. Today, renal osteodystrophy only describes bone problems that result from mineral and bone disorder in CKD. Health care providers might use the phrase chronic kidney disease mineral and bone disorder, or CKD-MBD, to describe the condition that affects the bones, heart, and blood vessels.
Source: NIDDK
Topic: Mineral and Bone Disorder in Chronic Kidney Disease
Question: What is (are) Mineral and Bone Disorder in Chronic Kidney Disease ?
Answer: Chronic kidney disease is kidney damage that occurs slowly over many years, often due to diabetes or high blood pressure. Once damaged, the kidneys cant filter blood as they should. This damage can cause wastes to build up in the body and other problems that can harm a persons health, including mineral and bone disorder.
Source: NIDDK
Topic: Mineral and Bone Disorder in Chronic Kidney Disease
Question: What causes Mineral and Bone Disorder in Chronic Kidney Disease ?
Answer: Chronic kidney disease causes mineral and bone disorder because the kidneys do not properly balance the mineral levels in the body. The kidneys
                
- stop activating calcitriol. The low levels of calcitriol in the body create an imbalance of calcium in the blood.  - do not remove the phosphorus in the blood properly, so phosphorus levels rise in the blood. The extra phosphorus pulls calcium out of the bones, causing them to weaken.
                
Another factor contributes to the cause of mineral and bone disorder. When the kidneys are damaged, the parathyroid gland releases parathyroid hormone into the blood to pull calcium from the bones and raise blood calcium levels. This response restores the balance of phosphorus and calcium; however, it also starves the bones of much-needed calcium.
Source: NIDDK
Topic: Mineral and Bone Disorder in Chronic Kidney Disease
Question: What are the symptoms of Mineral and Bone Disorder in Chronic Kidney Disease ?
Answer: In adults, symptoms of mineral and bone disorder in CKD may not appear until bone changes have taken place for many years. For this reason, people often refer to the disease as a silent crippler. Eventually, a person with the condition may begin to feel bone and joint pain.
                

                
Mineral and Bone Disorder in Children with Chronic Kidney Disease   Mineral and bone disorder in CKD is most serious when it occurs in children because their bones are still developing and growing. Growing children can show symptoms of mineral and bone disorder even in the early stages of CKD. Slowed bone growth leads to short stature, which may remain with a child into adulthood. One deformity caused by mineral and bone disorder in CKD occurs when the legs bend inward or outward, a condition often referred to as "renal rickets." More information is provided in the NIDDK health topic, Growth Failure in Children with Kidney Disease. Find more about childrens bone health on the Eunice Kennedy Shriver National Institute of Child Health and Human Development website at www.nichd.nih.gov.
Source: NIDDK
Topic: Mineral and Bone Disorder in Chronic Kidney Disease
Question: What are the complications of Mineral and Bone Disorder in Chronic Kidney Disease ?
Answer: The complications of mineral and bone disorder in CKD include slowed bone growth and deformities, and heart and blood vessel problems.
                
Slowed Bone Growth and Deformities
                
Damaged kidneys must work harder to clear phosphorus from the body. High levels of phosphorus cause lower levels of calcium in the blood, resulting in the following series of events:
                
- When a persons blood calcium level becomes too low, the parathyroid glands release parathyroid hormone.  - Parathyroid hormone removes calcium from bones and places it into the blood, raising a persons blood calcium level at the risk of harming bones.  - A low calcitriol level also leads to an increased level of parathyroid hormone.
                
If mineral and bone disorder in CKD remains untreated in adults, bones gradually become thin and weak, and a person with the condition may begin to feel bone and joint pain. Mineral and bone disorder in CKD also increases a persons risk of bone fractures.
                
Heart and Blood Vessel Problems
                
In addition to harming bones, mineral and bone disorder in CKD can cause problems in the heart and blood vessels:
                
- High levels of blood calcium can damage blood vessels and lead to heart problems.  - High phosphorus levels also can cause blood vessels to become like bone, leading to hardening of the arteries.  - High phosphorus levels also cause abnormal hormone regulation, even if the calcium level is acceptable.
                
Parathyroid hormone and another hormone made in the bones called FGF23 can also affect bone and heart health, leading to the following series of problems:
                
- When parathyroid hormone or FGF23 levels are high, a person can have heart problems.   - The complex hormone abnormalities that cause bone deformities can also harm a persons heart and blood vessels.
Source: NIDDK
Topic: Mineral and Bone Disorder in Chronic Kidney Disease
Question: How to diagnose Mineral and Bone Disorder in Chronic Kidney Disease ?
Answer: A health care provider diagnoses mineral and bone disorder in CKD with
                
- a family and medical history  - a physical exam  - a blood test  - a bone biopsy  - an x-ray
                
Family and Medical History
                
Taking a medical and family history is one of the first things a health care provider may do to help diagnose mineral and bone disorder in CKD. He or she will ask the patient or caretaker questions about when the patient was first diagnosed with CKD and whether any family members have also had mineral and bone disorder with or without CKD.
                
Physical Exam
                
A physical exam may help diagnose mineral and bone disorder in CKD. During a physical exam, a health care provider usually examines a patients body for changes in bone structure.
                
Blood Test
                
A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test shows levels of calcium, phosphorus, parathyroid hormone, and sometimes vitamin D.
                
Bone Biopsy
                
A bone biopsy is a procedure that removes a piece of bone tissue for examination with a microscope. A health care provider performs the biopsy in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the hip bone. A pathologista doctor who specializes in diagnosing diseasesexamines the bone tissue in a lab. The test can show whether a persons bone cells are building normal bone.
                
X-ray
                
An x-ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. A radiographer performs the x-ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. Patients do not need anesthesia. The patient will lie on a table or stand during the x-ray. The technician will position the x-ray machine over the bone area. The patient will hold his or her breath as the x-ray machine takes the picture so that the picture will not be blurry. The radiographer may ask the patient to change position for additional pictures. An x-ray can show extra calcium in blood vessels.
                
Each of these tests can help the health care provider determine whether CKD or some other condition is causing the mineral and bone disorder and decide on a course of treatment.
Source: NIDDK