Deficiency of subunit 6 of the conserved oligomeric Golgi (COG6) complex causes a new combined N-and O-glycosylation deficiency of the congenital disorders of glycosylation, designated as CDG-IIL (COG6-CDG). The index patient presented with a severe neurologic disease characterized by vitamin K deficiency, vomiting, intractable focal seizures, intracranial bleedings and fatal outcome in early infa

This paper focuses on carbon, which is one of the most abundant elements in the universe and is of high importance in the field of nucleosynthesis and galactic and stellar evolution. The origin of carbon and the relative importance of massive and low-to intermediate-mass stars in producing it is still a matter of debate. We aim at better understanding the origin of carbon by studying the trends of

The physical processes and time scales underlying the evolution of surface tension in atmospheric solution droplets are largely unaccounted for in present models describing cloud droplet formation. Adsorption of surface-active molecules at the surface of a solution droplet depresses the droplet surface tension but also depletes solute from the droplet bulk, which have opposing and sometimes cancel

We present a scheme for transferring conformational degrees of freedom from all-atom (AA) simulations of an intrinsically disordered protein (IDP) to coarse-grained (CG) Monte Carlo (MC) simulations using conformational swap moves. AA simulations of a single histatin 5 peptide in water were used to obtain a structural ensemble, which is reweighted in a CGMC simulation in the presence of a negative

BACKGROUND: Colorectal cancer peritoneal metastasis (CPM) confers an exceptionally poor prognosis, and traditional treatment involving systemic chemotherapy (SC) is largely ineffective. Cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC) is increasingly advocated for selected patients with CPM; however, opinions are divided because of the perceived lack of e

Background: Radial artery is the preferred access site in contemporary percutaneous coronary intervention (PCI). However, limited data exist regarding utilization pattern, safety, and long-term efficacy of transradial artery access (TRA) PCI in heavily calcified lesions using high-speed rotational atherectomy (HSRA). Methods: All patients who underwent HSRA-PCI in Sweden between 2005 and 2016 were

This book analyses and discusses the use of Islamic terms and symbols in the political party Sri Lanka Muslim Congress (SLMC). It is based on interviews with the leading members of the party and on analyses of the party’s official documents. It describes the history of Muslims in Sri Lanka, presents the analytical framework used, and discusses the official documents and narratives of party members

In this study, an analytical method has been developed that, for the first time, allows simultaneous determination of vitamin D2and vitamin D3along with their hydroxylated and esterified forms. A group of 12 vitamin D analogues including vitamin D2and vitamin D3, seven hydroxylated metabolites, and three ester forms were separated in a single 8.0 min run using ultrahigh-performance supercritical f

Impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) are high-risk factors of diabetes development and may be caused by defective insulin secretion in pancreatic beta-cells. Glucose-stimulated insulin secretion is mediated by voltage-gated Ca2+ (CaV) channels in which the gamma-4 subunit (CaVγ4) is required for the beta-cell to maintain its differentiated state. We here aim to explo

The Covid-19 pandemic pushed consumers' reliance on digital services to a whole new level. Today consumers accomplish most of their daily tasks - shopping, working,maintaining personal relationships - over the Internet. It goeswithout saying, such online interactions require collection ofa large amount of data, which might put consumers at unease.In this survey, our objective is to uncover what "d

Background: the ageing global population is living longer with complex health conditions addressed by multiple medications. Little is known about how older people manage these medications and associated packaging at home. Objectives: to explore how older people manage the use of multiple medication and associated packaging in their process of self-care. Methods: fifteen older, home-dwelling partic

This commentary elaborates on different methodological aspects complicating the interpretation of epidemiological data related to the current COVID-19 pandemic, thus preventing reliable within and across-country estimates. Firstly, an inaccuracy of epidemiological data maybe arguably be attributed to passive surveillance, a relatively long incubation period during which infected individuals can st

Objectives To study the value of combining individual- and neighborhood-level sociodemographic data to predict study participation and assess the effects of baseline selection on the distribution of metabolic risk factors and lifestyle factors in the Swedish CardioPulmonary bioImage Study (SCAPIS). Methods We linked sociodemographic register data to SCAPIS participants (n = 30,154, ages: 50-64 yea

Predicting pathogen emergence and spillover risk requires understanding the determinants of a pathogens host range and the traits involved in host competence. While host competence is often considered a fixed species-specific trait, it may be variable if pathogens diversify across hosts. Balancing selection can lead to maintenance of pathogen polymorphisms (multiple-niche-polymorphism; MNP). The c

Many normative theorists want to contribute to making the world a better place. In recent years, it has been suggested that to realise this ambition one must start with an adequate description of real-life practices. To determine what should be done, however, one must also fundamentally criticise existing moral beliefs. The method of reflective equilibrium offers a way of doing both. Yet, its prac

A test of CP invariance in Higgs boson production via vector-boson fusion is performed in the H→ττ decay channel. This test uses the Optimal Observable method and is carried out using 36.1fb−1 of s=13TeV proton–proton collision data collected by the ATLAS experiment at the LHC. Contributions from CP-violating interactions between the Higgs boson and electroweak gauge bosons are described by an eff

International research has found changes in how today’s young people evaluate themselves. The present Swedish research contributes with new findings by distinguishing different patterns of change in self-evaluation in two age groups. The study investigates generational and gender differences in five self-evaluation dimensions in two samples, one from 1983 (N = 3052 10–16-year-old students) and one

Background: Recovery patterns of motor function and activity capacity of the upper extremity after stroke have been described, but less is known about longitudinal changes of perceived manual activity performance. The aim of this study was to investigate longitudinal changes of self-perceived manual ability at several timepoints from onset until 12 months post-stroke in a cohort of consecutively r