Diamond-Blackfan anemia is a congenital erythroid hypoplasia manifesting early inlife. In at least 60-70% of cases, DBA is caused by a functional haploinsufficiencyof genes encoding for ribosomal proteins. Approximately, 25% percent of patientshave mutations in the gene encoding ribosomal protein S19 (RPS19). Thehematological profile of DBA patients shows macrocytic anemia withreticulocytopenia, n

The conventional wisdom in the literature on EU–Israel/Palestine relations is that the EU has only displayed very limited, if any, normative power in the Israeli–Palestinian conflict. Previous studies have focused on the ability, or rather inability, of the EU to diffuse any of the core norms behind Ian Manners' concept of ‘Normative Power Europe’ (NPE) into the Israeli–Palestinian conflict, while

This paper investigates two hitherto unexplored dimensions inherent in online sequential auctions, namely, how the time elapsed between the end of an auction and the end of the next one and the order of presentation on the website affect prices. Using a state-of-the-art-dataset on train-ticket auctions with a particular institutional design feature that enables a causal interpretation of these dim

Glutathione transferases play an important role in the detoxification of many different endogeneous and exogenous compounds such as metabolites of polycyclic aromatic hydrocarbons (PAH) of cigarette tar. There is evidence that PAH may be atherogenic. The glutathione transferase activity towards trans-stilbene oxide (GST-tSBO) can be separated in blood in GST-positive and GST-negative phenotypes. W

Glutathione transferases (GST) are detoxifying enzymes who act with many endogenous and exogenous substances such as polycyclic aromatic hydrocarbons (PAH). The GST activity towards trans-stilbene oxide (GST-tSBO) is inherited in an autosomal dominant fashion and can be separated in high (GST-positive) and low (GST-negative) phenotypes when measured in blood. Human fibroblast cultures were establi

Aims/hypothesis: The aims of this study were to evaluate systematically the predictive power of comprehensive metabolomics profiles in predicting the future risk of type 2 diabetes, and to identify a panel of the most predictive metabolic markers. Methods: We applied an unbiased systems medicine approach to mine metabolite combinations that provide added value in predicting the future incidence of

Background: Relapse of disease is frequent in anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV). It is unclear whether persistent ANCA when starting maintenance therapy increases the risk of relapse. We examined the association between ANCA status and relapse in two randomised controlled trials. Methods: ANCA-positive patients in two trials, CYCLOPS and IMPROVE, were switched f

Background: The pathophysiology of neurodegeneration is complex. Its diagnosis requires an early identification of sequential changes in several hallmarks in the brains of affected subjects. The presence of brain pathology can be visualized in the cerebrospinal fluid (CSF) by protein profiling. It is clear that the field of Alzheimer’s disease (AD) will benefit from an integration of algorithms in

Background: Smooth muscle cells are important for atheroscleroticplaque stability. Their proper ability to communicatewith the extracellular matrix is crucial for maintainingthe correct tissue integrity. In this study, we have investigatedthe role of β-sarcoglycan within the matrix-binding dystrophin-glycoproteincomplex in the development of atherosclerosis.Results: Atherosclerotic plaque developm

Ph.D. training in academic labs offers the foundation for the production of knowledge workers, indispensable for the modern knowledge-based society. Nonetheless, our understanding on Ph.D. training has been insufficient due to limited access to the inside of academic labs. Furthermore, early careers of Ph.D. graduates are often difficult to follow, which makes the evaluation of training effects ch

OBJECTIVES: The 22 countries of the East Mediterranean Region (EMR) have large populations of adolescents aged 10-24 years. These adolescents are central to assuring the health, development, and peace of this region. We described their health needs.METHODS: Using data from the Global Burden of Disease Study 2015 (GBD 2015), we report the leading causes of mortality and morbidity for adolescents in

OBJECTIVES: Assessing the burden of maternal mortality is important for tracking progress and identifying public health gaps. This paper provides an overview of the burden of maternal mortality in the Eastern Mediterranean Region (EMR) by underlying cause and age from 1990 to 2015.METHODS: We used the results of the Global Burden of Disease 2015 study to explore maternal mortality in the EMR count

OBJECTIVES: We used the results of the Global Burden of Disease 2015 study to estimate trends of HIV/AIDS burden in Eastern Mediterranean Region (EMR) countries between 1990 and 2015.METHODS: Tailored estimation methods were used to produce final estimates of mortality. Years of life lost (YLLs) were calculated by multiplying the mortality rate by population by age-specific life expectancy. Years