865 research outputs found
Comment devient-on un "ayant droit" ? Le rôle des personnes ressources dans la trajectoire administrative de l'immigré en Suisse : une approche socioculturelle
The importance of skin biopsy in the diverse clinical manifestations of cholesterol embolism.
Extraordinary sensitivity of the electronic structure and properties of single-walled carbon nanotubes to molecular charge-transfer
Interaction of single-walled carbon nanotubes with electron donor and
acceptor molecules causes significant changes in the electronic and Raman
spectra, the relative proportion of the metallic species increasing on electron
donation through molecular charge transfer, as also verified by electrical
resistivity measurements.Comment: 15 pages, 5 figurre
PREDICTORS OF RENAL AND PATIENT OUTCOMES IN ATHEROEMBOLIC RENAL DISEASE: A PROSPECTIVE STUDY.
Low cerebrovascular event rate in subjects with patent foramen ovale and different clinical presentations: results from a prospective non randomized study on a population including patients with and without patent foramen ovale closure.
Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3
Phenotypic expansion of DGKE-associated diseases.
Atypical hemolytic uremic syndrome (aHUS) is usually characterized by uncontrolled complement activation. The recent discovery of loss-of-function mutations in DGKE in patients with aHUS and normal complement levels challenged this observation. DGKE, encoding diacylglycerol kinase-ε, has not been implicated in the complement cascade but hypothetically leads to a prothrombotic state. The discovery of this novel mechanism has potential implications for the treatment of infants with aHUS, who are increasingly treated with complement blocking agents. In this study, we used homozygosity mapping and whole-exome sequencing to identify a novel truncating mutation in DGKE (p.K101X) in a consanguineous family with patients affected by thrombotic microangiopathy characterized by significant serum complement activation and consumption of the complement fraction C3. Aggressive plasma infusion therapy controlled systemic symptoms and prevented renal failure, suggesting that this treatment can significantly affect the natural history of this aggressive disease. Our study expands the clinical phenotypes associated with mutations in DGKE and challenges the benefits of complement blockade treatment in such patients. Mechanistic studies of DGKE and aHUS are, therefore, essential to the design of appropriate therapeutic strategies in patients with DGKE mutations
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