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Multiple miscarriages in two sisters of Thai origin with the rare Pk phenotype caused by a novel nonsense mutation at the B3GALNT1 locus

OBJECTIVES: To determine the genetic background underlying the Pk phenotype in two Thai sisters suffering from multiple spontaneous abortions.BACKGROUND: The P antigen is carried by globoside, an abundant glycosphingolipid in the red blood cell (RBC) membrane. Inactivating mutations in the 3-β-N-acetylgalactosaminyltransferase gene (B3GALNT1) give rise to the rare Pk phenotype, which lack the P an

Ambient Temperature and Associations with Daily Visits to a Psychiatric Emergency Unit in Sweden

High or low ambient temperatures pose a risk factor for the worsening or onset of psychiatric disorders. The aim of this study was to investigate the association between ambient temperature and psychiatric emergency visits in an urban region in a temperate climate. The daily number of visits to a psychiatric emergency room (PEVs) at Sahlgrenska University Hospital, Gothenburg, Sweden and the daily

A stroke gene panel for whole-exome sequencing

Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations. We systematically searched the publically available database Online Mendelian Inheritance in Man, and validated the entries against orig

Gain mechanism of femtosecond two-photon-excited lasing effect in atomic hydrogen

By aiming to establish single-ended standoff combustion diagnostics, bidirectional lasing emissions of atomic hydrogen at 656 nm wavelength have been generated via two-photon resonant excitation by focusing 205 nm femtosecond laser pulses into a premixed CH4/O2 flame. The forward lasing strength is approximately one order of magnitude stronger than that of the backward one, due to the geometry of

Impact of language background and school factors on core language skills

Bilingual children are at a disadvantage when compared to monolingual norms in language assessment. Monolingual assessment fails to acknowledge the asymmetrically distributed linguistic competence of bilingual children, for example, different levels of mastery of family and school related concepts in the first and second languages, respectively. Consequently, monolingual assessment results in an o

Layered structure around an extended gliding discharge column in a methane-nitrogen mixture at high pressure

The current work aims at investigating the detailed spatial structure of the thin plasma column of a gliding arc (GA) discharge extended in N2-CH4 gas mixtures, using visualization techniques. The GA discharge was operated at up to 5 atm in a high-pressure vessel with extensive optical access. The results show that the emission intensity from the plasma column increased tenfold with the addition o

School-based study found that physical activity and aerobic fitness predicted increases in total body fat and abdominal fat at a mean age of 9.8 years.

AIM: We assessed whether baseline measurements of physical activity, aerobic fitness, body fat and abdominal fat were predictors of changes in body fat measurements over a two-year period.METHODS: The study comprised of 204 children aged 9.8 ± 0.6 years with a normal body mass distribution, who recruited from four schools in middle-class areas of Malmö, Sweden, from 2001 to 2004. Peak oxygen uptak

Real-Time Calibration of Planar Laser Induced Fluorescence Air/Fuel-Ration Measurements in Combustion Environments Using in-situ Raman Scattering

A laser-based technique for recording absolute air-fuel ratio maps in a single-laser pulse in combustion devices, for instance, prior to ignition in internal combustion engines, is demonstrated. The method is based on an in situ pulse-to-pulse calibration of two-dimensional laser-induced fluorescence (LIF) images of relative fuel distributions by a point Raman measurement. A single excimer laser p

Quantum Szilard Engine with Attractively Interacting Bosons

We show that a quantum Szilard engine containing many bosons with attractive interactions enhances the conversion between information and work. Using an ab initio approach to the full quantum-mechanical many-body problem, we find that the average work output increases significantly for a larger number of bosons. The highest overshoot occurs at a finite temperature, demonstrating how thermal and qu

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis of 36 blood group alleles among 396 Thai samples reveals region-specific variants

BACKGROUND: Blood group phenotype variation has been attributed to potential resistance to pathogen invasion. Variation was mapped in blood donors from Lampang (northern region) and Saraburi (central region), Thailand, where malaria is endemic. The previously unknown blood group allele profiles were characterized and the data were correlated with phenotypes. The high incidence of the Vel-negative

Alpha-1-microglobulin protects from heme induced placenta and kidney damage in a pregnant ewe model for preeclampsia

INTRODUCTION: Previous gene expression analysis have identified fetal hemoglobin (HbF) as a plausible etiological factor in preeclampsia. Free hemoglobin and its degradation products, e.g. heme, are known to cause oxidative stress, tissue damage, and vaso-constriction, typical findings in preeclampsia.OBJECTIVE: To study alpha-1-microglobulin (A1M), an endogenous radical scavenger and heme-binder,

Megahertz x-ray microscopy at x-ray free-electron laser and synchrotron sources

Modern emerging technologies, such as additive manufacturing, bioprinting, and new material production, require novel metrology tools to probe fundamental high-speed dynamics happening in such systems. Here we demonstrate the application of the megahertz (MHz) European X-ray Free-Electron Laser (EuXFEL) to image the fast stochastic processes induced by a laser on water-filled capillaries with micr

Diagnostic Accuracy of History and Physical Examination for Predicting Major Adverse Cardiac Events Within 30 Days in Patients With Acute Chest Pain

BACKGROUND: The cornerstones in the assessment of emergency department (ED) patients with suspected acute coronary syndrome (ACS) are patient history and physical examination, electrocardiogram, and cardiac troponins. Although there are several prior studies on this subject, they have in some cases produced inconsistent results.OBJECTIVE: The aim of this study was to evaluate the diagnostic and pr

Structural and compositional changes during UHT fouling removal—Possible mechanisms of the cleaning process

Ultra-high temperature (UHT) treatment of milk forms a deposit or fouling in the processing equipment that is mineral-based with an enclosed protein network. This study addresses the fundamental mechanisms that control the removal of this deposit. For this purpose, the structural and compositional changes during the cleaning process have been studied. The structure analysis was performed with scan

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent mela