INTRODUCTION recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT-Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta. CASE WE REPORT SIX CASES OF WOMEN W...

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

conclusions this study supports the assumption that low glycemic index diet as well as metformin can positively affect metabolic syndrome components. background metabolic syndrome (mets) continues to be highly prevalent and contributes to a rapidly growing problem worldwide. the most important therapeutic intervention for metabolic syndrome is diet modification, an intervention whose efficacy h...

endothelial dysfunction which is manifested by the loss of nitric oxide bioavailability, is an increasingly recognized cause of cardiac syndrome x (csx) and beta blockers are used for the treatment of this syndrome. thus, the aim of this study was to investigate effects of metoprolol, as a beta blocker, on endothelial function in csx patients. the study included 25 csx patients (20 female/ 5 ma...

The complete amino acid sequence of the triple-helical domain of human collagen VI was deduced from sequences of appropriate cDNA clones and confirmed to about 50% by Edman degradation of tryptic peptides. This domain consists of three different peptide segments containing some 335-336 amino acid residues originating from central portions of the alpha 1 (VI), alpha 2(VI), and alpha 3(VI) chains...

This paper is concerned with two problems which, although not apparently closely related, are solved in part by the same methods. The first problem is: given a bicomplete (=comple te and cocomplete) category X and a triple T on X, is X T also bicomplete? The second is: given a category X and a functor R: X---~X, does R generate a free triple? This paper began as an attempt to show that the cate...

wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia,  eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia  (xlt) that  presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...

conclusions the mathematical meaning of the two insulin-related biomarkers examined was the same, and the odds ratios of the two biomarkers were almost the same after adjustments for other independent variables. objectives a one-year follow-up study was conducted to determine the ability of the insulin-related biomarkers to predict the risk of mets development. patients and methods a total of 2...

turner syndrome is one of the most common cytogeneti disorders in human with an incidence of one case in about 2500 female live born children. most patients have sexual infantilism and pregnancy is rare. bahner reported the first case of a pregnant turner patients and then the pregnancy of such patients has not been considered impossible. 9 patients out of 243 turner patients referred to karimi...