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Objective: North Sea Progressive Myoclonus Epilepsy (NS-PME) is a rare genetic disorder characterized by ataxia, myoclonus and seizures with a progressive course. Although the cause of NS-PME is known, namely a homozygous mutation in the GOSR2 gene (c.430 G>T; p. Gly144Trp), sufficient treatment is lacking. Despite combinations of on average 3–5 anti-seizure medications (ASMs), debilitating myoclo

Introduction Critical care is essential in saving lives of those that are critically ill, however, provision of critical care can be costly and heterogeneous across lower-resource settings. This paper describes the protocol for a systematic review of the literature that aims to identify the reported costs and resources available for the provision of critical care and the forms of critical care pro

Agricultural intensification and expansion are regarded as main drivers of biodiversity loss. This conclusion is mainly based on observed declines of local diversity (α-diversity), while effects on community composition homogenization (decrease of β-diversity) at a larger spatial scale are less well understood. Carabid beetles and spiders represent two widespread guilds and are important predators

Risk assessment is a useful tool to inform decision-making when it comes to ensuring the continuous operation of critical societal functions. It can be used on many levels within an organization or on multiple societal levels. One way to conduct risk assessments on a higher system level, such as on national level, is to aggregate risk information from lower-level assessments, e.g. from the regiona

Introduction: The development of inhibitory antibodies is a severe complication of clotting factor replacement therapy in patients with severe haemophilia A (HA). Current World Federation of Hemophilia (WFH) guidelines for haemophilia care indicate that eradication of inhibitors is best achieved through immune tolerance induction (ITI) therapy. Aim: The European Collaborative Haemophilia Network c

Intron splicing is an essential event in post-transcriptional RNA processing in plant mitochondria, which requires the participation of diverse nuclear-encoded splicing factors. However, it is presently unclear how these proteins cooperatively take part in the splicing of specific introns. In this study, we characterized a nuclear-encoded mitochondrial P-type pentatricopeptide repeat (PPR) protein

This article analyses the role that ‘ordre public’ and morality exceptions can play in the granting of patents on inventions in the field of human germline editing and the consequences of this policy option. In order to provide the context for such an analysis, the article will, first, provide an overview of the current patent landscape for relevant genome editing technologies, drawing attention t

In 2015, the Zambian government and the Swedish International Development Cooperation Agency (Sida) signed an agreement in which Sida committed to funding a program for Reproductive, Maternal, Newborn, Child, Adolescent Health and Nutrition (RMNCAH). The program includes a results-based financing (RBF) model that aims to reward Zambian districts for improved district-wide results on relevant indic

*Introduction* The adoption of Universal Design in European countries introduces a demand for and ex-pectations of a culture which supports equality and non-stigmatisation, treasuring diversi-ty and striving towards a society for all. *Background*Universal Design comes with a set of values, which create tensions between established practices based on “persons with disabilities” as a distinct, sepa

The last 20 years have witnessed a marked increase in Swedish participation in major international UN-, EU- and/or NATO-led armed missions mandated according to Chapter VII of the UN Charter. This development reflects the new foreign and security priorities of Sweden in the wake of the end of the Cold War. Decisions on Swedish participation in such missions, however, cannot be taken without parlia

Occupational balance (OB) may be a major determinant of health outcomes due to its role in bringing a sense of purpose in the occupations that are personally experienced as a process of getting health and wellness. The Occupational Balance Questionnaire (OBQ) is a reliable instrument for measuring OB, although it has not been adapted and validated in Spain so far; therefore, this study had a doubl

Aim: The study aim was to evaluate the RSR 3 Screen ICA™ and 2 Screen ICA™ for detection of islet cell autoimmunity in healthy Swedish subjects and patients with newly diagnosed type 1 diabetes (T1D). Methods: 3 Screen is designed for combined detection of autoantibodies to glutamic acid decarboxylase (GADA), to the islet antigen IA-2 (IA-2A) and to zinc transporter 8 (ZnT8A), while 2 Screen detec

Because global sea level during the last interglacial (LIG; 130–115 ka) was higher than today, the LIG is a useful approximate analogue for improving predictions of future sea-level rise. Here, we synthesize sea-level proxies for the LIG in the glaciated Northern Hemisphere for inclusion in the World Atlas of Last Interglacial Shorelines (WALIS) database.We describe 82 sites from Russia, northern Because global sea level during the last interglacial (LIG; 130–115 ka) was higher than today, the LIG is a useful approximate analogue for improving predictions of future sea-level rise. Here, we synthesize sea-level proxies for the LIG in the glaciated Northern Hemisphere for inclusion in the World Atlas of Last Interglacial Shorelines (WALIS) database. We describe 82 sites from Russia, northern

INTRODUCTION: Mechanical ventilation is a fundamental component in the management of patients post cardiac arrest. However, the ventilator settings and the gas-exchange targets used after cardiac arrest may not be optimal to minimise post-anoxic secondary brain injury. Therefore, questions remain regarding the best ventilator management in such patients. METHODS AND ANALYSIS: This is a preplanned

Match-fixing, although not a new problem, has received growing attention during the COVID-19 pandemic, which has been reported in the media to have increased the risk of match-fixing events. Gambling is a well-documented addictive behavior, and gambling-related fraud, match-fixing, is a challenge to the world of sports. Most research on match-fixing has a judicial or institutional perspective, and

Biotechnology and genetic engineering raise a number of new ethical problems. Consequently, over the past 15 years, several European countries, including the Nordic countries, have passed new laws in an attempt to deal with the ethical problems posed by biotechnology. These developments raise the question of how to formulate legislation to regulate both the technical and ethical aspects of biotech

Uncertainty refers to any limitation in knowledge. Identifying and characterizing uncertainty in conclusions is important to ensure transparency and avoid over or under confidence in scientific assessments. Quantitative expressions of uncertainty are less ambiguous compared to uncertainty expressed qualitatively, or not at all. Subjective probability is an example of a quantitative expression of e

Detailed reaction kinetics of acrolein + H and related chemistry and its influence on the ignition delay time prediction of acrolein has been studied theoretically in this work. The geometry optimization and vibrational frequency calculations for every stationary point were performed at the BH&HLYP/6–311++G(d,p) level of theory, with one-dimensional hindered rotation treatments applied for low

PURPOSE OF REVIEW: Urinary diversion (UD) with or without cystectomy is a procedure with high short term complication rates. In this review, we summarize the most relevant findings of the last 2 years. RECENT FINDINGS: The use of a prophylactic mesh decreases the risk of parastomal hernia after ileal conduit (IC) surgery without adding mesh-related complications according to a recent randomized mu

To clarify the structure of genetic risks for 11 major psychiatric disorders, we calculated, from morbidity risks for disorders in 1st–5th degree relatives controlling for cohabitation effects, in the Swedish population born between 1932 and 1995 (n = 5,830,014), the family genetic risk scores (FGRS) for major depression (MD), anxiety disorders (AD), obsessive-compulsive disorder (OCD), bipolar di