randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : information 
 What is (are) cutis laxa ? 
 Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.  The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin.  Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical arteries. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia). Pouches called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening.  Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant form. In addition to the features described above, some people with autosomal recessive cutis laxa have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time.  The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints.
This is a medical question of type : frequency 
 How many people are affected by cutis laxa ? 
 Cutis laxa is a rare disorder. About 200 affected families worldwide have been reported.
This is a medical question of type : genetic changes 
 What are the genetic changes related to cutis laxa ? 
 Cutis laxa can be caused by mutations in the ATP6V0A2, ATP7A, EFEMP2, ELN, or FBLN5 gene. Most of these genes are involved in the formation and function of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue throughout the body. Elastic fibers allow the skin to stretch, the lungs to expand and contract, and arteries to handle blood flowing through them at high pressure.  The major component of elastic fibers, a protein called elastin, is produced from the ELN gene. Other proteins that appear to have critical roles in the assembly of elastic fibers are produced from the EFEMP2, FBLN5, and ATP6V0A2 genes. Mutations in any of these genes disrupt the formation, assembly, or function of elastic fibers. A shortage of these fibers weakens connective tissue in the skin, arteries, lungs, and other organs. These defects in connective tissue underlie the major features of cutis laxa.  Occipital horn syndrome is caused by mutations in the ATP7A gene. This gene provides instructions for making a protein that is important for regulating copper levels in the body. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. A reduced supply of copper can decrease the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes.  Mutations in the genes described above account for only a small percentage of all cases of cutis laxa. Researchers suspect that mutations in other genes, which have not been identified, can also be responsible for the condition.  Rare cases of cutis laxa are acquired, which means they are probably not caused by inherited gene mutations. Acquired cutis laxa appears later in life and is related to the destruction of normal elastic fibers. The causes of acquired cutis laxa are unclear, although it may occur as a side effect of treatment with medications that remove copper from the body (copper chelating drugs).
This is a medical question of type : inheritance 
 Is cutis laxa inherited ? 
 Cutis laxa can have an autosomal dominant, autosomal recessive, or X-linked recessive pattern of inheritance.  When cutis laxa is caused by ELN mutations, it has an autosomal dominant inheritance pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, cases of cutis laxa resulting from FBLN5 mutations can also have an autosomal dominant pattern of inheritance.  Researchers have described at least two forms of autosomal recessive cutis laxa. Type I results from mutations in the EFEMP2 or FBLN5 gene, while type II is caused by mutations in the ATP6V02 gene. Autosomal recessive inheritance 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.  Occipital horn syndrome has an X-linked recessive pattern of inheritance. It results from mutations in the ATP7A gene, which is located on the X chromosome. The X chromosome is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
This is a medical question of type : treatment 
 What are the treatments for cutis laxa ? 
 These resources address the diagnosis or management of cutis laxa:  - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa  - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders  - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa  - Gene Review: Gene Review: FBLN5-Related Cutis Laxa  - Genetic Testing Registry: Autosomal recessive cutis laxa type IA  - Genetic Testing Registry: Cutis laxa with osteodystrophy  - Genetic Testing Registry: Cutis laxa, X-linked  - Genetic Testing Registry: Cutis laxa, autosomal dominant  - MedlinePlus Encyclopedia: Colon Diverticula (image)  - MedlinePlus Encyclopedia: Emphysema (image)  - MedlinePlus Encyclopedia: Hernia   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
This is a medical question of type : information 
 What is (are) Bjrnstad syndrome ? 
 Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Bjrnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.  People with Bjrnstad syndrome also have hearing problems that become evident in early childhood. The hearing loss, which is caused by changes in the inner ear (sensorineural deafness), can range from mild to severe. Mildly affected individuals may be unable to hear sounds at certain frequencies, while severely affected individuals may not be able to hear at all.
This is a medical question of type : frequency 
 How many people are affected by Bjrnstad syndrome ? 
 Bjrnstad syndrome is a rare condition, although its prevalence is unknown. It has been found in populations worldwide.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Bjrnstad syndrome ? 
 Bjrnstad syndrome is caused by mutations in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. The BCS1L protein is critical for the formation of a group of proteins known as complex III, which is one of several protein complexes involved in this process. As a byproduct of its action in oxidative phosphorylation, complex III produces reactive oxygen species, which are harmful molecules that can damage DNA and tissues.  BCS1L gene mutations involved in Bjrnstad syndrome alter the BCS1L protein and impair its ability to aid in complex III formation. The resulting decrease in complex III activity reduces oxidative phosphorylation. For unknown reasons, overall production of reactive oxygen species is increased, although production by complex III is reduced. Researchers believe that tissues in the inner ears and hair follicles are particularly sensitive to reactive oxygen species and are damaged by the abnormal amount of these molecules, leading to the characteristic features of Bjrnstad syndrome.
This is a medical question of type : inheritance 
 Is Bjrnstad syndrome inherited ? 
 Bjrnstad syndrome 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.
This is a medical question of type : treatment 
 What are the treatments for Bjrnstad syndrome ? 
 These resources address the diagnosis or management of Bjrnstad syndrome:  - Centers for Disease Control and Prevention: Hearing Loss in Children: Screening and Diagnosis  - Genetic Testing Registry: Pili torti-deafness syndrome   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
This is a medical question of type : information 
 What is (are) chordoma ? 
 A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.  Approximately half of all chordomas occur at the base of the spine (sacrum), about one third occur in the base of the skull (occiput), and the rest occur in the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of the spine. As the chordoma grows, it puts pressure on the adjacent areas of the brain or spinal cord, leading to the signs and symptoms of the disorder. A chordoma anywhere along the spine may cause pain, weakness, or numbness in the back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) and headaches. A chordoma that occurs in the tailbone (coccygeal chordoma) may result in a lump large enough to be felt through the skin and may cause problems with bladder or bowel function.  Chordomas typically occur in adults between ages 40 and 70. About 5 percent of chordomas are diagnosed in children. For reasons that are unclear, males are affected about twice as often as females.
This is a medical question of type : frequency 
 How many people are affected by chordoma ? 
 Chordomas are rare, occurring in approximately 1 per million individuals each year. Chordomas comprise fewer than 1 percent of tumors affecting the brain and spinal cord.
This is a medical question of type : genetic changes 
 What are the genetic changes related to chordoma ? 
 Changes in the T gene have been associated with chordoma. An inherited duplication of the T gene identified in a few families is associated with an increased risk of developing a chordoma. Duplications or increases in activity (expression) of the T gene have also been identified in people with chordoma who have no history of the disorder in their family. In these individuals, the changes occur only in the tumor cells and are not inherited.  The T gene provides instructions for making a protein called brachyury. Brachyury is a member of a protein family called T-box proteins, which play critical roles during embryonic development. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors.  The brachyury protein is especially important for the early development of the spine. In human embryos, a structure called the notochord is the precursor of the spinal column. The notochord disappears before birth, but in a small percentage of individuals, some of its cells remain in the base of the skull or in the spine. In rare cases these cells begin to grow and divide uncontrollably, invading the nearby bone and soft tissue and resulting in the development of a chordoma.  Duplications and increases in expression of the T gene both result in the production of excess brachyury protein. The specific mechanism by which excess brachyury protein contributes to the development of chordomas is unclear. Some people with chordoma do not have changes in the T gene, and the cause of the disorder in these individuals is unknown.
This is a medical question of type : inheritance 
 Is chordoma inherited ? 
 When development of a chordoma is associated with a duplication of the T gene inherited from a parent, one copy of the altered gene in each cell is sufficient to increase the risk of the disorder, which is an inheritance pattern called autosomal dominant. People with this duplication inherit an increased risk of this condition, not the condition itself.  Other cases of chordoma are sporadic, which means they occur in people with no history of the condition in their family.
This is a medical question of type : treatment 
 What are the treatments for chordoma ? 
 These resources address the diagnosis or management of chordoma:  - Chordoma Foundation: Treatment  - Duke Spine Center  - Genetic Testing Registry: Chordoma  - Massachusetts General Hospital   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
This is a medical question of type : information 
 What is (are) juvenile Paget disease ? 
 Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).  The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly.  Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can lead to hearing loss. The disease also affects bones of the spine (vertebrae). The deformed vertebrae can collapse, leading to abnormal curvature of the spine. Additionally, weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with standing and walking.
This is a medical question of type : frequency 
 How many people are affected by juvenile Paget disease ? 
 Juvenile Paget disease is rare; about 50 affected individuals have been identified worldwide.
This is a medical question of type : genetic changes 
 What are the genetic changes related to juvenile Paget disease ? 
 Juvenile Paget disease is caused by mutations in the TNFRSF11B gene. This gene provides instructions for making a protein that is involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it.  Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. Mutations in the TNFRSF11B gene lead to a much faster rate of bone remodeling starting early in life. Bone tissue is broken down more quickly than usual, and when new bone tissue grows it is larger, weaker, and less organized than normal bone. This abnormally fast bone remodeling underlies the problems with bone growth characteristic of juvenile Paget disease.
This is a medical question of type : inheritance 
 Is juvenile Paget disease inherited ? 
 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.
This is a medical question of type : treatment 
 What are the treatments for juvenile Paget disease ? 
 These resources address the diagnosis or management of juvenile Paget disease:  - Genetic Testing Registry: Hyperphosphatasemia with bone disease   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
This is a medical question of type : information 
 What is (are) anencephaly ? 
 Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.  Because the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.  Because these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.
This is a medical question of type : frequency 
 How many people are affected by anencephaly ? 
 Anencephaly is one of the most common types of neural tube defect, affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end in miscarriage, so the prevalence of this condition in newborns is much lower. An estimated 1 in 10,000 infants in the United States is born with anencephaly.
This is a medical question of type : genetic changes 
 What are the genetic changes related to anencephaly ? 
 Anencephaly is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown.  Changes in dozens of genes in individuals with anencephaly and in their mothers may influence the risk of developing this type of neural tube defect. The best-studied of these genes is MTHFR, which provides instructions for making a protein that is involved in processing the vitamin folate (also called vitamin B9). A shortage (deficiency) of this vitamin is an established risk factor for neural tube defects. Changes in other genes related to folate processing and genes involved in the development of the neural tube have also been studied as potential risk factors for anencephaly. However, none of these genes appears to play a major role in causing the condition.  Researchers have also examined environmental factors that could contribute to the risk of anencephaly. As mentioned above, folate deficiency appears to play a significant role. Studies have shown that women who take supplements containing folic acid (the synthetic form of folate) before they get pregnant and very early in their pregnancy are significantly less likely to have a baby with a neural tube defect, including anencephaly. Other possible maternal risk factors for anencephaly include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of anencephaly.
This is a medical question of type : inheritance 
 Is anencephaly inherited ? 
 Most cases of anencephaly are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. For parents who have had a child with anencephaly, the risk of having another affected child is increased compared with the risk in the general population.
This is a medical question of type : treatment 
 What are the treatments for anencephaly ? 
 These resources address the diagnosis or management of anencephaly:  - Children's Hospital of Philadelphia  - Genetic Testing Registry: Anencephalus  - Genetic Testing Registry: Neural tube defect  - Genetic Testing Registry: Neural tube defects, folate-sensitive   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