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The third Human Variome Project (HVP) Meeting "Integration and Implementation" was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10-14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working

Sclerosing epithelioid fibrosarcoma (SEF), first described in 1995, is a rare aggressive sarcoma morphologically defined by "epithelioid fibroblasts arranged in distinct cords and nests in a densely sclerotic, hyalinised stroma". SEF can mimic metastatic carcinoma within desmoplastic stroma, lymphoma and other mesenchymal neoplasms such as myoepithelioma, making it difficult to diagnose. In a subs

AIMS: Although atrial fibrillation is a frequent complication of an atrial septal defect (ASD) of the secundum type, the underlying mechanisms are poorly understood. Atrial conduction disturbances, manifested as a prolonged P-wave duration, have been suggested as a substrate for arrhythmia. Prolongation of the P-wave in unrepaired ASD has been demonstrated by means of the conventional ECG, but not

BACKGROUND: The amount of myocardium at risk (MaR) during acute coronary occlusion and the duration of occlusion are important determinants of final infarct size. The main goal of early reperfusion therapy is to salvage ischemic myocardium, thereby preserving left ventricular function. The aims of the present study were to test the feasibility of developing polar plot representations of MaR, for p

In a prospective cohort study, we observed that women with a history of irregular cycles have a 28% increased coronary heart disease risk and tended to have a higher type 2 diabetes risk as compared with women who had a regular cycle length of 27 to 29 days. This association could not be explained by metabolic risk factors or altered hormone levels.

BACKGROUND: The aim of the present study was to explore the occurrence of fibrocytes in tissue and to investigate whether the appearance of fibrocytes may be linked to structural changes of the parenchyme and vasculature in the lungs of patients with obliterative bronchiolitis (OB) following lung or bone marrow transplantation. METHODS: Identification of parenchyme, vasculature, and fibrocytes was

Many endocarditis pathogens activate human platelets and this has been proposed to contribute to virulence. Here we report for the first time that many clinical isolates of Enterococcus faecalis, a common pathogen in infective endocarditis, aggregate human platelets. 84 isolates from human blood and urine were screened for their ability to aggregate platelets from four different donors. Platelet a

HAMLET, a complex of partially unfolded alpha-lactalbumin and oleic acid, kills a wide range of tumor cells. Here we propose that HAMLET causes macroautophagy in tumor cells and that this contributes to their death. Cell death was accompanied by mitochondrial damage and a reduction in the level of active mTOR and HAMLET triggered extensive cytoplasmic vacuolization and the formation of double-memb

Three methods estimating adverse effects of SO2 on Norway spruce forests were applied and evaluated on a regional level in northern Czech Republic. The methods, assuming adverse effects to occur when predetermined thresholds are exceeded, include the critical level of SO2 concentration (1), the ratio of the SO2 concentration to the vegetation period (SO2/VP) (2) and a model predicting needle loss

Increasing incidence of testicular germ cell cancer (TGCC) is most probably related to environment and lifestyle. However, an underlying genetic predisposition may play a role and since sex steroids are assumed to be important for the rise and progression of TGCC, a study of androgen receptor (AR) gene polymorphisms in relation to the risk, histological type and progression of TGCC was undertaken.

PURPOSE: The main function of erythropoietin (EPO) is to stimulate erythropoiesis. EPO receptors (EPOR) are expressed in other cell types, including tumor cells, suggesting that the EPO/EPOR pathway governs additional cellular processes besides erythropoiesis. Recombinant EPO (rhEPO) is frequently given to anemic cancer patients, although data on clinical outcome are conflicting. In an attempt to

Following the implementation of advanced treatment procedures in radiotherapy, there is a need for dynamic dose verification in 3D. Gel dosimetry could potentially be used for such measurements. However, recently published data show that certain types of gels have a dose rate and fractionation dependence. The aim of this study was to investigate the feasibility of using a polymer gel dosimeter for

Plastic and reconstructive surgery has had a long history with international humanitarian efforts. As the field of global surgery continues to gain momentum in academic centers throughout the world, the role of the surgical subspecialist in the public health infrastructure of low-resource communities has also begun to gain a new sense of wonder and importance. Arthur Barsky, Jr was arguably one of

Microaggregate-poor erythrocyte concentrate with 3% dextran-60 as a plasma substitute was compared with microaggregate-poor whole blood for replacement of intra-operative and immediately postoperative blood loss. Sixty patients undergoing total hip arthroplasty randomly received either of these two forms of therapy. In accordance with the clinical routine of our orthopedic department, an infusion

The observation that neural grafts can induce dyskinesias has severely hindered the development of a transplantation therapy for Parkinson's disease (PD). We addressed the hypothesis that inflammatory responses within and around an intrastriatal graft containing dopamine neurons can trigger dyskinetic behaviors. We subjected rats to unilateral nigrostriatal lesions with 6-hydroxydopamine (6-OHDA)

BACKGROUND: Type 2 diabetes mellitus (T2DM) is one of the most common chronic diseases worldwide. In high-income countries, low socioeconomic status seems to be related to a high incidence of T2DM, but very little is known about the intermediate factors of this relationship. METHOD: We performed a case-cohort study in eight Western European countries nested in the EPIC study (n = 340 234, 3.99

Abstract The purpose of this study was to explore how persons with severe mental illness (SMI) experience oral health problems (especially dry mouth), and weigh the support they received in this regard from professionals and staff at community-based congregate housing through a controlled intervention programme. Oral health problems and dry mouth are found in association with apathy and indifferen