History of the Williams Syndrome
HISTÓRIA WILLIAMSOVHO SYNDRÓMU
História WS je procesom detailnej analýzy fenotypových znakov so snahou odhaliť ich podstatu. Táto náročnácesta hľadania priniesla mnoho cenných poznatkov, ktoré prenikli do rôznych oblastí medicíny, predovšetkým dokardiológie, metabolizmu, genetiky, psychológie a kognitívnych neurovied. Objavom genetickej podstaty ochoreniasa zavŕšila prvá etapa poznávania syndrómu. Genetický výskum však pokračuje.WS možno považovať za modelovýsyndróm pre identifikáciu behaviorálnych génov. Rovnako poznanie patogenézy cievnych anomálií môže byť kľúčomk poznaniu patogenézy mnohých častejšie sa vyskytujúcich cievnych ochorení. Článok je prehľadom o histórii WS.
Klíčová slova:
Williamsov syndróm, idiopatická hyperkalcémia, supravalvulárna aortálna stenóza, mentálnaretardácia, vitamín D. Článok je prehľadom o histórii WS.
Authors:
V. Bzdúch; K. Jariabková
Authors‘ workplace:
1. detská klinika Detskej fakultnej nemocnice a Lekárskej fakulty UK – Kabinet výskumu sociálnej a biologickej komunikácie Slovenskej akadémie vied, Bratislava
Published in:
Čas. Lék. čes. 2002; : 651-655
Category:
Overview
History of the Williams syndrome (WS) represents a process of detailed analysis of phenotypic markers and ofattempts to reveal their origin. This demanding tasks have brought many valuable findings, which were employedin different fields of medicine, namely in cardiology, metabolism, genetics, psychology and cognitive neurosciences.Discovery of the genetic basis of the disease closed the first period of the syndrome analysis. Genetic studies havebeen proceeding and WS can be taken as a model syndrome for the behavioral genes identification. Similarly thedescription of the pathogenesis of vascular anomalies represents the key for understanding of the pathogenesis ofother, more common vascular diseases. The article brings the review of the history of the WS.
Key words:
Williams syndrome, idiopatic hypercalcemia, supravalvular stenosis, mental retardation, vitamin D.
Labels
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental HygienistArticle was published in
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