Heinz Schilling, 1517. Weltgeschichte eines Jahres

Op-brai150057 1505..1517

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients from four families affected with cerebellar ataxia, including the large Lebanese family previously described with autosomal recessive cerebellar ataxia and short stature of Norman type and localiz...

Heinz Nixdorf Institute Heinz Nixdorf

Bio013276 1509..1517

Pseudohypoaldosteronism type II (PHAII) is a hereditary hypertensive disease caused by mutations in four different genes: with-no-lysine kinases (WNK) 1 and 4, Kelch-like family member 3 (KLHL3), and cullin 3 (Cul3). Cul3 and KLHL3 form an E3 ligase complex that ubiquitinates and reduces the expression level of WNK4. PHAIIcausing mutations in WNK4 and KLHL3 impair WNK4 ubiquitination. However, ...

Dmm021972 1517..1529

Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that is best characterised by neurodevelopmental deficits and the presence of benign tumours (called hamartomas) in affected organs. This multi-organ disorder results from inactivating point mutations in either the TSC1 or the TSC2 genes and consequent activation of the canonical mammalian target of rapamycin complex 1 signallin...

RPMv126n4-original article-1517.indd

Sao Paulo Med J. 2008;126(4):215-9. Antonio Paulo Nassar Junior Ruy Camargo Pires Neto Walquiria Barcelos de Figueiredo Marcelo Park Validity, reliability and applicability of Portuguese versions of sedationagitation scales among critically ill patients Discipline of Medical Emergencies, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), São Paulo, Brazil CONTE...