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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.1 years (range, 1-42). All patients presented with thr

Spatiotemporal Changes in Precipitation and Temperature in the Huaibei Plain and the Relation between Local Precipitation and Global Teleconnection Patterns

The Huaibei Plain is one of the most severe water scarcity areas in China. Understanding of hydroclimatic variation in this area at different timescales and its relationship with global teleconnection patterns are important for assessment of water resources utilization. In this study, spatiotemporal changes of seasonal and annual precipitation and temperature, including trend, abrupt change, varia

Melphalan 140 mg/m2 or 200 mg/m2 for autologous transplantation in myeloma : Results from the collaboration to collect autologous transplant outcomes in Lymphoma and Myeloma (CALM) study. A report by the EBMT chronic malignancies working party

Melphalan at a dose of 200 mg/m2 is standard conditioning prior to autologous hematopoietic stem cell transplantation for multiple mulholger, but a dose of 140 mg/m2 is often used in clinical practice in patients perceived to be at risk of excess toxicity. To determine whether melphalan 200 mg/m2 and melphalan 140 mg/m2 are equally effective and tolerable in clinically relevant patient subgroups w

A projected gradient descent method for crf inference allowing end-to-end training of arbitrary pairwise potentials

Are we using the right potential functions in the Conditional Random Field models that are popular in the Vision community? Semantic segmentation and other pixel-level labelling tasks have made significant progress recently due to the deep learning paradigm. However, most state-of-the-art structured prediction methods also include a random field model with a hand-crafted Gaussian potential to mode

A meta-analysis and systematic literature review of factors associated with sexual risk-taking during international travel

Background: International travel facilitates global spread of sexually transmitted infections (STI). Travellers could contribute to onward transmission of pathogens rarely encountered at home and export new strains to the destination. The aim was to systematically examine evidence regarding determinants of travel-related sexual risk-taking and identify knowledge gaps and areas for targeted interve

Coronary angiographic findings and outcomes in patients with sudden cardiac arrest without ST-elevation myocardial infarction : A SWEDEHEART study

Background/aim: Sudden cardiac arrest (SCA) has a substantial mortality rate and the acute coronary syndrome constitutes the major cause. Post-resuscitation electrocardiogram ST-elevation SCA (STE-SCA) is a strong indication for emergency coronary angiography, but the role of early angiography and PCI in patients without ST-elevation (NSTE-SCA) remains to be established. This paper aimed to descri

Pancreatic-like enzymes of microbial origin restore growth and normalize lipid absorption in a pig model with exocrine pancreatic insufficiency

Introduction: The standard therapy for exocrine pancreatic insufficiency (EPI) is porcine-derived pancreatic enzyme replacement therapy (PERT). In the present study we tested a new approach with a mixture of pancreatic- like enzymes of microbial origin (PLEM) in a 1-week efficacy study in EPI pigs. In addition to the conventionally used coefficient of fat and nitrogen absorption (CFA and CNA), par

The effect of fatty acid binding in the acid isomerizations of albumin investigated with a continuous acidification method

The protein Human Serum Albumin (HSA) is known to undergo conformational transitions towards partially unfolded forms triggered by acidification below pH 4.5. The extent of Fatty Acids (FA) binding has been thought to have an impact on the conformational equilibrium between the native and acid forms and to be a possible explanation for the observation of more than one band in early electrophoretic

A structural study of Ruddlesden-Popper phases Sr3-xYx(Fe125Ni075)O7-δ with x ≤ 0.75 by neutron powder diffraction and EXAFS/XANES spectroscopy

The structures of Ruddlesden-Popper n = 2 member phases Sr3-xYxFe125Ni0.75O7-δ with 0 ≤ x ≤ 0.75 have been investigated using neutron powder diffraction and K-edge Fe and Ni EXAFS/XANES spectroscopy in order to gain information about the evolution of the oxygen vacancy distribution and Fe/Ni oxidation state with x. Both samples prepared at 1300°C under a flow of N2(g), with δ = 1.41-1.00, and samp