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Of all live births with congenital anomalies, approximately one-third exhibit deformities ofthe head and face. Most craniofacial disorders are associated with defects in a migratory stem and progenitor cell population, which is designated the neural crest (NC). Musculocontractural Ehlers-Danlos syndrome (MCEDS) is a heritable connective tissue disorder with distinct craniofacial features; this syn

Content List - Read more articles from the symposium: Future of haemophilia outcome assessment.

Background: Alcohol Use Disorder (AUD) is clinically heterogeneous. Using a large epidemiological sample ascertained via public registries, is it possible to identify clinical and historical features of AUD that reflect familial risk? Methods: Using registration in national medical, legal or pharmacy registries, we identified four kinds of relative pairs (n = 683,223) starting with a proband with

Carbohydrate-deficient transferrin (CDT) is a glycoform profile of serum transferrin that increases in response to sustained high alcohol intake and over the last decades has become an important alcohol biomarker with clinical and forensic applications. However, the wide range of CDT measurement procedures has resulted in lack of uniform results and reference limits, and hampered comparison of res

Objectives To describe the development, implementation and lessons learned of lifestyle intervention to promote appropriate gestational weight gain among Hispanic pregnant women. Design The intervention was informed by an empowerment oriented theoretical framework, and targeted women in the Pregnancy and Early Life Improvement Study. Methods The nutrition component consisted of recommendations for

We aimed at investigating risk of specific second primary cancers (SPCs) after malignant mesothelioma (MM) and vice versa, which has not been reported. Among survivors of 3672 pleural MM and 895 peritoneal MM, overall 113 and 28 SPCs were recorded, respectively, while reverse analyses included overall 431 pleural and 88 peritoneal MMs after any first cancers. We found a bidirectional association o

Making the diagnosis fatal intoxication is a challenging task for the forensic pathologist and toxicologist, particularly when the cases involve substances where reference information is scarce or not at all available. This study presents postmortem femoral blood concentrations for 24 antipsychotic substances, based on samples collected and analyzed from 4949 autopsy cases in Sweden during 1992-20

Background Arterial hypertension is common in adults with repaired coarctation of the aorta (CoA). The associations between the diagnosis of hypertension, actual blood pressure, other factors affecting left ventricular overload, and left ventricular hypertrophy (LVH) are not yet fully explored in this population. Material and results From the national register for congenital heart disease, 506 adu

The Bacova_02091 gene in the β-mannan utilisation locus of Bacteroides ovatus encodes a family GH36 α-galactosidase (BoGal36A), transcriptionally upregulated during growth on galactomannan. Characterisation of recombinant BoGal36A reveals unique properties compared to other GH36 α-galactosidases, which preferentially hydrolyse terminal α-galactose in raffinose family oligosaccharides. BoGal36A pre

AbstractThe degradation of plant based β-mannan polysaccharides represents one of the many challenges efficiently tackled by microorganisms living in different habitats. In this thesis, glycoside hydrolases (GHs) involved in mannan degradation from two different organisms, Aspergillus nidulans (paper I and II) and Bacteroides ovatus (paper III and IV) were studied. A. nidulans is a saprophytic fun

Adaptive dynamics is a mathematical framework for studying evolution. It extends evolutionary game theory to account for more realistic ecological dynamics and it can incorporate both frequency- and density-dependent selection. This is a practical guide to adaptive dynamics that aims to illustrate how the methodology can be applied to the study of specific systems. The theory is presented in detai

Many migratory birds have changed their timing of arrival at breeding grounds in response to recent climate change. Understanding the adaptive value and the demographic consequences of these shifts are key challenges. To address these questions we extend previous models of phenological adaptation to climate change under territory competition to include feedback from population dynamics, winter sur

Renewable technology expands geographically and in capacity. The long transmission distance and bulk power transfer involved make multi-terminal VSC-HVDC systems a key technology for future power systems. This expansion could be hampered by the pace of development of multi-terminal systems especially when standardization is not reached in hardware or the control system. A general control system st

DC grids will play a key role in the future, interconnecting generation and load centers as well as energy markets. Large multi-terminal VSC-HVDC systems of high capacity will require automated coordination for several operation scenarios especially when operating under disturbances. With this in mind, and considering the dynamics of a DC system, communication loss events are considered severe dis

In this paper a new Space Vector Pulse Width Modulation method is proposed for multilevel voltage source inverters. This method is based on Space Vector Modulation and is compared to other similar methods. According to the method presented the multiplicity of the switching states of a multilevel inverter is also considered. This means that the new pulse method takes into account the multiplicity o

The commentary addresses the scope for synergy between climate change policy and social policy in the European Union (EU) from a ‘sustainable welfare’ perspective. The emerging sustainable welfare approach is oriented to the satisfaction of human needs within ecological limits, in an intergenerational and global perspective. While the overall goals of EU climate policy and EU welfare policies larg