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Neurofibromatoses
Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. Although symptoms are often mild, each condition presents differently. Neurofibromatosis type I (NF1) is typically characterized by café au lait spots (light-brown flat patches of skin), neurofibromas (small bumps in or under the skin), scoliosis (side-way curvature of the back), and headaches. Neurofibromatosis type II (NF2), on the other hand, may present with early-onset hearing loss, cataracts, tinnitus, difficulty walking or maintaining balance, and muscle atrophy. The third type is called schwannomatosis and often presents in early adulthood with widespread pain, numbness, or tingling due to nerve compression. The cause is a genetic mutation in certain oncogenes. These can be inherited, or in about half of cases spontaneously occur during early development. Dif ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schwannomatosis
Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder neurofibromatosis (NF). Originally described in Japanese patients, it consists of multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF. The exact frequency of schwannomatosis cases is unknown, although some populations have noted frequencies as few as 1 case per 1.7 million people. Schwannomas are mostly benign tumors that commonly occur in individuals with NF2 and schwannomatosis (sometimes called neurofibromatosis type III). Schwann cells are glial cells that myelinate the axons of nerve cells. Myelin is a lipid covering that speeds the conduction of action potentials. When Schwann cells proliferate out of control in an encapsulation it is called a schwannoma. Although schwannomas are benign they become detrimental when the growing tumor compresses the nerve. Schwannomas on sensory nerve axons cause c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromatosis Type I
Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system neurocutaneous disorder caused by a subset of genetic mutations at the neurofibromin 1 (''NF1'') locus. Other conditions associated with mutation of the ''NF1'' gene include Watson syndrome. NF-1 is a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. causes tumors along the nervous system that can grow anywhere on the body. is one of the most common genetic disorders and is not limited to any person's race or sex. NF-1 is an autosomal dominant disorder, which means that mutation or deletion of one copy (or allele) of the is sufficient for the development of , although presentation varies widely and is often different even between relatives affected by . , there are at least 100,000 people in the U.S. and about 25,000 people in the UK who have been diagnosed with NF. Common symptoms of inc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromatosis Type 1
Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. Although symptoms are often mild, each condition presents differently. Neurofibromatosis type I (NF1) is typically characterized by café au lait spots (light-brown flat patches of skin), neurofibromas (small bumps in or under the skin), scoliosis (side-way curvature of the back), and headaches. Neurofibromatosis type II (NF2), on the other hand, may present with early-onset hearing loss, cataracts, tinnitus, difficulty walking or maintaining balance, and muscle atrophy. The third type is called schwannomatosis and often presents in early adulthood with widespread pain, numbness, or tingling due to nerve compression. The cause is a genetic mutation in certain oncogenes. These can be inherited, or in about half of cases spontaneously occur during early development. Di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oncogenes
An oncogene is a gene that has the potential to cause cancer. In tumor cells, these genes are often mutated, or expressed at high levels.Kimball's Biology Pages. "Oncogenes" Free full text Most normal cells undergo a preprogrammed rapid cell death () if critical functions are altered and then malfunction. Activated oncogenes can cause those cells designated for apoptosis to survive and proliferate instead. Most oncogenes began as proto-oncogenes: normal genes involved in cell growth and proliferation or inhibition of apoptosis. If, through mutation, normal genes promoting cellular growth are up-regulated (gain-of-function mutation), they predispose the cel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cataract
A cataract is a cloudy area in the lens (anatomy), lens of the eye that leads to a visual impairment, decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or double vision, halos around light, trouble with bright lights, and Nyctalopia, difficulty seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of Falling (accident), falling and Depression (mood), depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to senescence, aging but may also occur due to Trauma (medicine), trauma or radiation exposure, be congenital cataract, present from birth, or occur following eye surgery for other problems. Risk factors include diabetes mellitus, diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tinnitus
Tinnitus is a condition when a person hears a ringing sound or a different variety of sound when no corresponding external sound is present and other people cannot hear it. Nearly everyone experiences faint "normal tinnitus" in a completely quiet room; but this is of concern only if it is bothersome, interferes with normal hearing, or is associated with other problems. The word ''tinnitus'' comes from the Latin language, Latin ''wikt:en:tinnitus#Latin, tinnire'', "to ring." In some people, it interferes with concentration, and can be associated with anxiety and Depression (mood), depression. Tinnitus is usually associated with hearing loss and decreased comprehension of speech in noisy environments. It is common, affecting about 10–15% of people. Most tolerate it well, and it is a significant (severe) problem in only 1–2% of people. It can trigger a fight-or-flight response, as the brain may perceive it as dangerous and important. Rather than a disease, tinnitus is a sy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle Atrophy
Muscle atrophy is the loss of skeletal muscle mass. It can be caused by immobility, aging, malnutrition, medications, or a wide range of injuries or diseases that impact the musculoskeletal or nervous system. Muscle atrophy leads to muscle weakness and causes disability. Disuse causes rapid muscle atrophy and often occurs during injury or illness that requires immobilization of a limb or bed rest. Depending on the duration of disuse and the health of the individual, this may be fully reversed with activity. Malnutrition first causes fat loss but may progress to muscle atrophy in prolonged starvation and can be reversed with nutritional therapy. In contrast, cachexia is a wasting syndrome caused by an underlying disease such as cancer that causes dramatic muscle atrophy and cannot be completely reversed with nutritional therapy. Sarcopenia is age-related muscle atrophy and can be slowed by exercise. Finally, diseases of the muscles such as muscular dystrophy or myopathies can caus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ult ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurosurgery
Neurosurgery or neurological surgery, known in common parlance as brain surgery, is the specialty (medicine), medical specialty that focuses on the surgical treatment or rehabilitation of disorders which affect any portion of the nervous system including the Human brain, brain, spinal cord, peripheral nervous system, and cerebrovascular system. Neurosurgery as a medical specialty also includes non-surgical management of some neurological conditions. Education and context In different countries, there are different requirements for an individual to legally practice neurosurgery, and there are varying methods through which they must be educated. In most countries, neurosurgeon training requires a minimum period of seven years after graduating from medical school. United Kingdom In the United Kingdom, students must gain entry into medical school. The MBBS qualification (Bachelor of Medicine, Bachelor of Surgery) takes four to six years depending on the student's route. The newly qu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heredity
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of the organism's genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Headache
A headache, also known as cephalalgia, is the symptom of pain in the face, head, or neck. It can occur as a migraine, tension-type headache, or cluster headache. There is an increased risk of Depression (mood), depression in those with severe headaches. Headaches can occur as a result of many conditions. There are a number of different classification systems for headaches. The most well-recognized is that of the International Headache Society, which classifies it into more than 150 types of Primary headache disorder, primary and secondary headaches. Causes of headaches may include dehydration; fatigue; sleep deprivation; Stress (biology), stress; the effects of medications (overuse) and recreational drugs, including withdrawal; viral infections; loud noises; head injury; rapid ingestion of a very cold food or beverage; and dental or sinus issues (such as sinusitis). Treatment of a headache depends on the underlying cause, but commonly involves analgesic, pain medication (esp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Teratology
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by teratogens and also in pharmacology and toxicology. Teratogens are substances that may cause non-heritable birth defects via a toxic effect on an embryo or fetus. Defects include malformations, disruptions, deformations, and dysplasia that may cause stunted growth, delayed mental development, or other congenital disorders that lack structural malformations. These defects can be recognized prior to or at birth as well as later during early childhood. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult. The extent to which teratogens will impact an embryo is dependent on several factors, such as how long the embryo has been exposed, the stage of development the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
