Search results
Results from the WOW.Com Content Network
In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months. [4] [1] HNPP is caused by a mutation in the gene PMP22, which makes peripheral myelin protein 22.
Since people with this condition are unable to sweat, they are unable to properly regulate their body temperature. [1] Those affected are unable to feel pain and temperature. [2] [3] The absence of pain experienced by people with CIPA puts them at high risk for accidental self-injury. Corneal ulceration occurs due to lack of protective impulses ...
Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary predisposition to colon cancer.. HNPCC includes (and was once synonymous with) [1] Lynch syndrome, an autosomal dominant genetic condition that is associated with a high risk of colon cancer, endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. [2]
Multisystem Inflammatory Syndrome in children MJD Machado-Joseph disease: ML mucolipidoses: MLD Metachromatic leukodystrophy: MMA Monomelic amyotrophy: MMR Measles, mumps, rubella: MMRV Measles, mumps, rubella, varicella: MND Motor neuron disease: MODY Maturity-onset diabetes of the young: MOH Medication overuse headaches: MPD ...
In children, a ferritin above 10000 μg/L is very sensitive and specific for the diagnosis of HLH, [17] however, the diagnostic utility for ferritin is less for adult HLH patients. [18] The serum fibrinogen level is usually low and the D-dimer level is elevated. [citation needed] The sphingomyelinase is elevated. [19] Bone marrow biopsy shows ...
Children with Special Healthcare Needs (CSHCN) are defined by the Maternal and Child Health Bureau as: "Those who have one or more chronic physical, developmental, behavioral, or emotional conditions and who also require health and related services of a type or amount beyond that required by children generally" [1]
The distinctive vascular abnormalities of the skin often fade over time, making the diagnosis challenging in older children with this condition. [citation needed] The brain can be affected in several ways in this syndrome. Some children are born with structural brain anomalies such as cortical dysplasia or polymicrogyria.
Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a medical condition, typically occurring in young children, in which high fever occurs periodically at intervals of about 3–5 weeks, frequently accompanied by aphthous-like ulcers, pharyngitis and cervical adenitis (cervical lymphadenopathy). The syndrome was described ...