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Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a result of an inherited disease, leading to the accumulation or decreased excretion of proteins, carbohydrates and lipids. Although IEMs are often diagnosed during childhood, adolescent and adult onset variants may be accompanied by less somatic and more psychiatric manifestations, which often hampers recogni
Background: With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis, clinical features and proposed disease mechanisms. Methods:
Our study contributes a contextual perspective on entrepreneurs’ networking, shifting focus from individual-level network structure and networking activities toward understanding networking as a multilevel process involving individual and contextual mechanisms. Through a multiple case study of entrepreneurs in Silicon Valley and Berlin, we introduce networking temperature as novel concept that cap
Understanding influence of vegetation on past temperature changes in the Arctic region would help isolate uncertainty and build understanding of its broader climate system, with implications for paleoclimate reconstructions and future climate change. Using an Earth system model EC-Earth, we conduct a series of simulations to investigate the impact of vegetation-climate feedback on the Arctic clima
Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. To assess the efficacy and safety of ibuprofen (any dose) for acute postoperative pain management in children compared with placebo or other active comparators. To compare ibuprofen administered by different doses, routes (e.g. oral, intravenous, etc.), or strategies (e.g. as needed versus as sched
Mismatch between adjacent atomic layers in low-dimensional materials, generating moiré patterns, has recently emerged as a suitable method to tune electronic properties by inducing strong electron correlations and generating novel phenomena. Beyond graphene, van der Waals structures such as three-dimensional (3D) topological insulators (TIs) appear as ideal candidates for the study of these phenom
Background: Asundexian (Bayer AG, Leverkusen, Germany), an oral small molecule factor XIa (FXIa) inhibitor, might prevent thrombosis without increasing bleeding. Asundexian's effect for secondary prevention of recurrent stroke is unknown. Methods: In this randomised, double-blind, placebo-controlled, phase 2b dose-finding trial (PACIFIC-Stroke), patients with acute (within 48 h) non-cardioembolic
Amyloid formation is linked to devastating neurodegenerative diseases, motivating detailed studies of the mechanisms of amyloid formation. For Aβ, the peptide associated with Alzheimer’s disease, the mechanism and rate of aggregation have been established for a range of variants and conditions in vitro and in bodily fluids. A key outstanding question is how the relative stabilities of monomers, fi
Objectives: Mental health consequences and behavior change has been described in elite athletes following the vast impact of the COVID-19 pandemic on the world of sports. However, most study samples have been of limited size, and few studies have assessed student-athletes. This study aimed to analyze perceived mental health impact, measured as clinical degree of depression and anxiety, worry about
Eurasian spruce bark beetle, Ips typographus is a destructive pest of the Norway spruce (Picea abies). Recent outbreaks in Europe have been attributed to global warming and other anthropogenic impacts. Bark beetles are guided by multiple complex olfactory cues throughout their life cycle. Male-produced aggregation pheromones, comprising 2-methyl-3-buten-2-ol and cis-verbenol, have been identified
This work evaluates interaction of pulmonary surfactant (PS) and antimicrobial peptides (AMPs) in order to investigate (i) if PS can be used to transport AMPs, and (ii) to what extent PS interferes with AMP function and vice versa. This, in turn, is motivated by a need to find new strategies to treat bacterial infections in the airways. Low respiratory tract infections (LRTIs) are a leading cause
Plasmodium relictum is the most widespread avian malaria parasite in the world. It is listed as one of the 100 most dangerous invasive species, having been responsible for the extinction of several endemic bird species, and the near-demise of several others. Here we present the first transcriptomic study focused on the effect of P. relictum on the immune system of its vector (the mosquito Culex qu
Many insects rely on path integration to define direct routes back to their nests. When shuttling hundreds of meters back and forth between a profitable foraging site and a nest, navigational errors accumulate unavoidably in this compass- and odometer-based system. In familiar terrain, terrestrial landmarks can be used to compensate for these errors and safely guide the insect back to its nest wit
In this volume, we present a selection of articles that aim to reconsider and hence redefine our constructed attitudes toward nature and culture. More specifically, the articles reveal the vital and mutual significance of nature and culture. It is obvious that themes of nature, ecology, Anthropocene are subject matters that are receiving more and more attention each day both because young people a
Introduction: Induction of labor (IOL) is one of the most common obstetrical procedures, with an increasing rate. The prostaglandin E1 analogue misoprostol is frequently used as a primary method of labor induction. The optimal dose and route of administration is yet to be ascertained. Aim: To compare efficiacy and safety between a regimen of sublingually administered misoprostol and a regimen of o
South Africa has a coal-based energy system and extractive economy, largely responsible for its high emission levels relative to countries with similar GDP. This extractive, coal-based economy began during British colonisation and today shows few signs of transitioning rapidly to limit climate change. This paper interrogates the role of coloniality in climate delay, given that colonisation is resp
We study exposure to grading bias and provide novel evidence of its impact on mental health. Grading bias, which we interpret as over-grading, is constructed as the residual of final upper secondary school grades having controlled for results in a standardized test, itself not subject to grading leniency. Grading bias is further isolated by considering only within-school variation in over-grading
Background: Gambling disorder is the first non-substance-related addiction which is recognized as a diagnostic entity and assessed in treatment settings. However, in many clinical settings, assessment, and structured treatment for this condition is severely under-developed, and treatment seeking in many settings is low. This is a protocol paper describing the rationale and structure of a recently
