Filtyp
A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion) can inform their interpretation. We present a novel case-control
When the ecovillage of Toarp was established in the peri-urban landscape of Malmö, Sweden, it was designed with inspiration from the historical regional landscape and its settlement forms. In the launching of the area the past was mirrored as more sustainable than the present. As demonstrated, the historical references in the planned and produced Toarp landscape are however made selectively and ra
Objective: Incisional negative pressure wound therapy (iNPWT) applied over all incisions after lower extremity bypass in the prevention of surgical site infections (SSIs) is unclear. The primary and secondary aims of this study were to investigate if prophylactic iNPWT after the elective lower extremity bypass prevents SSI and other surgical wound complications. Methods: This was a multicenter, pa
The development of lipid nanoparticle (LNP) based therapeutics for delivery of RNA has triggered the advance of new strategies for formulation, such as high throughput microfluidics for precise mixing of components into well-defined particles. In this study, we have characterised the structure of LNPs throughout the formulation process using in situ small angle x-ray scattering in the microfluidic
The Real-World Implementation, Deployment, and Validation of Early Detection Tools and Lifestyle Enhancement (AD-RIDDLE) project, recently launched with the support of the EU Innovative Health Initiative (IHI) public-private partnership and UK Research and Innovation (UKRI), aims to develop, test, and deploy a modular toolbox platform that can reduce existing barriers to the timely detection, and
The solution of multi-field problems and the numerical implementation by means of the finite element method constitute a sophisticated part of the characterisation of industrial processes. A comprehensive implementation framework for such a system of coupled field equations into a non-linear large strain finite element formulation is provided. The procedure is derived for a micromorphic approach i
Background: Cholera outbreaks are a continuing problem in Bangladesh, and the timely detection of an outbreak is important for reducing morbidity and mortality. In Matlab, the ongoing Health and Demographic Surveillance System (HDSS) data records symptoms of diarrhea in children under the age of 5 years at the community level. Cholera surveillance in Matlab currently uses hospital-based data. Obje
Background: Ribonucleotide reductases (RNRs) catalyze the formation of the deoxyribonucleotides that are essential for DNA synthesis. The R2 subunit of Escherichia coli RNR is a homodimer containing one dinuclear iron centre per monomer. A tyrosyl radical is essential for catalysis, and is formed via a reaction in which the reduced, diferrous form of the iron centre activates dioxygen. To help und
OBJECTIVES: Patient-reported outcome measures (PROMs) are important for clinical practice and research. Given the high unmet need, our aim was to develop a comprehensive PROM for systemic sclerosis (SSc), jointly with patient experts. METHODS: This European Alliance of Associations for Rheumatology (EULAR)-endorsed project involved 11 European SSc centres. Relevant health dimensions were chosen an
Background: Vasopressin concentration is typically higher at night, during stress, and in males, but readily lowered by water intake. Vasopressin is also a causal candidate for cardiometabolic disease, which shows seasonal variation. Objective: To study whether vasopressin concentration varies by season in a temperate climate. Methods: The vasopressin surrogate marker copeptin was analyzed in fast
Building performance predictions and their reliability rely heavily on weather data inputs. Climate is affected by spatial and temporal differences related to climate change and urban heat island effects, but the weather files used in building performance simulations (BPS) often remain unchanged and may represent weather observations generated from inadequate space and time for their application.
During the last decades, there has been continuous development of nationwide quality registries to assess healthcare and to do research in Sweden. An important background motive is the demographic transition resulting from an increasingly ageing population as one of the most important challenges of our time and a growing concern in many European countries and elsewhere. One condition for meeting t
OBJECTIVE: Genome-wide association studies have begun to elucidate the genetic architecture of type 2 diabetes. We examined whether single nucleotide polymorphisms (SNPs) identified through targeted complementary approaches affect diabetes incidence in the at-risk population of the Diabetes Prevention Program (DPP) and whether they influence a response to preventive interventions. RESEARCH DESIGN
Increasing recognition of germline DDX41 variants in patients with hematological malignancies prompted us to provide DDX41-specific recommendations for diagnosis, surveillance, and treatment. Causative germline variants in the DDX41 predispose to the development of myeloid neoplasms (MNs), especially myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Almost 3%–5% of all patients with
Analysis of the change in groundwater used as a drinking and irrigation water source is of critical importance in terms of monitoring aquifers, planning water resources, energy production, combating climate change, and agricultural production. Therefore, it is necessary to model groundwater level (GWL) fluctuations to monitor and predict groundwater storage. Artificial intelligence-based models in
