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Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...
Neurofibromatosis type 1: NF2 Neurofibromatosis type 2: NKH Nonketotic hyperglycinemia: NLD Nonverbal learning disability: NMDs Neuronal migration disorders: NMO Neuromyelitis optica: NMS Neuroleptic malignant syndrome: NP Niemann–Pick disease: NPC1 Niemann–Pick disease, type C1 NPH Normal pressure hydrocephalus: NTD Neural tube defect ...
[1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals. Because most people are not diagnostically trained or knowledgeable, they typically describe their symptoms in layman's terms, rather than using specific medical terminology. This list is not exhaustive.
People with neurofibromatosis type 2 can exhibit the same type of skin symptoms as type 1, but not necessarily in every case. [10] Symptoms may include pain due to pressure on nerves, tinnitus, weakness in fingers, numbness, headaches. The symptom most characteristic of NF2 is hearing loss. [11]
The main discussion of these abbreviations in the context of drug prescriptions and other medical prescriptions is at List of abbreviations used in medical prescriptions. Some of these abbreviations are best not used, as marked and explained here.
Besides, other benign brain and spinal tumors occur. Symptoms depend on the presence, localisation and growth of the tumor(s). Many people with this condition also experience vision problems. Neurofibromatosis type II (NF2 or NF II) is caused by mutations of the "Merlin" gene, [2] which seems to influence the form and movement of cells.
Pronunciation follows convention outside the medical field, in which acronyms are generally pronounced as if they were a word (JAMA, SIDS), initialisms are generally pronounced as individual letters (DNA, SSRI), and abbreviations generally use the expansion (soln. = "solution", sup. = "superior").
Neurofibromin (NF-1) is a protein that is encoded in humans, in the NF1 gene. [5] NF1 is located on chromosome 17. [ 6 ] [ 7 ] [ 8 ] Neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras -bound GTP .