نتایج جستجو برای: seip lypodystrophy
تعداد نتایج: 181 فیلتر نتایج به سال:
The antiviral activity and toxicity of stavudine (d4T) depend on its triphosphate metabolite, stavudine triphosphate (d4T-TP). Therefore, modifications in intracellular levels of d4T-TP may change the toxicity profile of stavudine. d4T-TP intracellular levels in peripheral blood mononuclear cells were determined with a prominence liquid chromatograph connected to a triple-quadruple mass spectro...
Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the absence of body fat and insulin resistance and accompanied by other features, including acanthosis nigricans, organomegaly, hyperandrogenism, and diabetes. We have examined case subjects from 11 families in Oman with CGL. All subjects were the progeny of consanguineous marriages; therefore, a homozygosity mapping...
Abstract Ohio Hopewell is an archaeological concept that known worldwide but suffers from “a disarray of radiocarbon results” (Lynott 2015:60). Here, we establish a comprehensive dataset 425 14 C dates sites and apply formal chronometric hygiene criteria to all dates. We then iteratively assess the temporal placement span six most important sites—the Mound Group, Liberty, City, Seip, Tremper, T...
This is a Consensus Document of the Sociedad Española de Infectología Pediátrica, Sociedad Española de Reumatología Pediátrica and Sociedad Española de Ortopedia Pediátrica on the aetiology and diagnosis of uncomplicated acute osteomyelitis and septic arthritis. A review is presented of the aetiopathogenesis and pathophysiology of acute osteoarticular infection defined as a process with less th...
CONTEXT Recently, in a 4-month proof-of-concept trial, beneficial metabolic effects were reported in non-diabetic children with Berardinelli-Seip congenital lipodystrophy (BSCL); this information prompted us to hypothesize that long-term leptin-replacement therapy might improve or reverse the early complications of the disease in these patients. PATIENTS AND METHODS A 28-month trial was imple...
We solve an extremal problem that arises in the study of the refractive indices of passive metamaterials. The problem concerns Hermitian functions in H of the upper half-plane, i.e., H functions satisfying f(−x) = f(x). An additional requirement is that the imaginary part of f be nonnegative for nonnegative arguments. We parameterize the class of such functions whose real part is constant on an...
Loss-of-function mutations in BSCL2 are responsible for Berardinelli-Seip congenital lipodystrophy, a rare disorder characterized by near absence of adipose tissue associated with insulin resistance. Seipin-deficient (Bscl2-/-) mice display an almost total loss of white adipose tissue (WAT) with residual brown adipose tissue (BAT). Previous cellular studies have shown that seipin deficiency alt...
Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous genetic disease characterized by near absence of adipose tissue and severe insulin resistance. We have previously identified mutations in the seipin gene in a subset of our patients' cohort. Recently, disease-causing mutations in AGPAT2 have been reported in BSCL patients. In this study, we have performed mutation screening in...
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