Health-related quality of life in patients with type 1 diabetes mellitus in the different geographical regions of Brazil: data from the Brazilian Type 1 Diabetes Study Group.

Background: In type 1 diabetes mellitus (T1DM) management, enhancing health-related quality of life (HRQoL) is as important as good metabolic control and prevention of secondary complications. This study aims to evaluate possible regional differences in HRQoL, demographic features and clinical characteristics of patients with T1DM in Brazil, a country of continental proportions, as well as investigate which variables could influence the HRQoL of these individuals and contribute to these regional disparities.

Methods: This was a retrospective, cross-sectional, multicenter study performed by the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG), by analyzing EuroQol scores from 3005 participants with T1DM, in 28 public clinics, among all geographical regions of Brazil.

Endogenous oestradiol but not testosterone is related to coronary artery disease in men.

Objectives: Men die of coronary artery disease (CAD) more often than women. There is evidence that testosterone either is neutral or has a beneficial effect on male cardiovascular disease. The role of oestrogens in male CAD has been less studied.

Y chromosome in Turner syndrome: review of the literature.

Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome.

[Serum testosterone and cardiovascular disease in men].

Cardiovascular diseases (CVD) represent the main cause of death in Brazil. Men die more of coronary artery disease and they have higher levels of testosterone than women. However, recent studies indicate that androgens can have beneficial and/or neutral effect in the male cardiovascular system.

Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients.

Background: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are conflicting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the findings to the chromosomal aneuploidy.

Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases.

Objective: To determine the clinical implications of the presence of a Y chromosome in Turner's syndrome patients with karyotype abnormalities.

Design: To investigate the presence of Y-chromosome sequences in different tissue samples.

Setting: Endocrinology outpatient clinic of a federal university in Brazil.

Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma.

Unlabelled: The presence of Y chromosome fragments in patients with Turner's syndrome (TS) is known to increase the risk of gonadoblastoma. The investigation of Y sequences is usually performed only in the presence of marker chromosomes and therefore does not rule out the presence of hidden mosaicism in patients with 45,X TS without any marker.

Aims: 1.