Kinky medical

Added: Bianka Kingsley - Date: 27.08.2021 06:28 - Views: 45444 - Clicks: 1304

If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. Please kinky medical the latest official manual style if you have any questions regarding the format accuracy. It is a genetic disorder of copper metabolism that is usually diagnosed prenatally which subsequently evolves progressively to a degenerative mechanisms involving several organs of the body and especially the brain.

It is characterized by seizures, mental retardation, stunted growth, failure to thrive, unstable body temperature, and very unusual color and texture of hair. Caused by defective intestinal copper absorption that in severe mental retardation, failure to thrive, sparse hair, and osteoporosis.

The disorder was originally described by John Hans Menkes in Dr Menkes was a pediatric neurologist and author of fictional novels and plays. He also identified the Maple Syrup Disease. Worldwide the incidence is estimated attonewborns in the general population. However, in Australia the condition occurs inThis medical condition is lethal before the age of three.

It is more common in males than females. The inheritance is caused by an X-linked recessive trait. Defective coding for an intracellular copper-transporting protein called MNK, which travels between the Golgi apparatus and the cell membrane, transporting copper to the exterior of the cell. Defective MNK prevents proper intestinal absorption of copper. The resultant free-copper deficiency affects the function of copper-dependent enzymes such as cytochrome oxidase, tyrosinase, and lysyl oxidase, which in symptoms and s of disease.

Should be considered in any male infant with unexplained seizures, hypothermia, and mental retardation. Serum copper and kinky medical concentrations are low. The copper levels are elevated in fibroblasts kinky medical the placenta. Carrier status for the abnormal gene usually can be determined by microscopic examination of multiple hairs from scattered scalp sites for pili torti twisted hair. Prenatal diagnosis is available DNA probe.

Intrauterine growth retardation, which persists after birth. Neurologic deterioration begins approximately 2 months after birth. Focal cerebral and cerebellar degeneration progress rapidly to decerebration, with characteristic hypotonia, spasticity, and partial and generalized seizures. Strabismus, myopia, and poor visual acuity are common findings. Abnormal thermoregulation with resultant hypothermia is common. Microcephaly occurs as a result of gliosis. The hair is sparse, dull, hypopigmented, brittle, and twisted pili torti.

Hypotonus of the facial musculature gives a chubby-cheek appearance. Micrognathia may be present. Typically, the long bones are osteoporotic. Blood vessels systemic arteries become long and tortuous with irregular lumens because of abnormal development of the elastic lamina and thickening of the intima.

Aneurysms subsequently develop that Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. This div only appears when the trigger link is hovered over. Otherwise it is hidden from view. Forgot Username? About MyAccess If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. Learn More. in via OpenAthens. in via Shibboleth. AccessBiomedical Science. AccessEmergency Medicine.

Case Files Collection. Clinical Sports Medicine Collection. Davis AT Collection.

Davis PT Collection. Murtagh Collection. About Search. Enable Autosuggest. You have successfully created a MyAccess Profile for alertsuccessName. Chapter. Next Chapter. Bruno Bissonnette, et al. Syndromes: Rapid Recognition and Perioperative Implications, 2e. McGraw Hill; Accessed July 15, APA Citation Kinky hair syndrome.

McGraw Hill. Download citation file: RIS Zotero. Reference Manager. Autosuggest. Subscribe: Institutional or Individual. Username Error: Please enter User Name. Password Error: Please enter Password. Forgot Password? Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over. Please Wait.

This site uses cookies to provide, maintain and improve your experience.

Kinky medical

email: [email protected] - phone:(405) 801-9166 x 9835

Medical Play