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Population-scale Analysis Reveals Germline Loss of SERPING1 (C1-Inhibitor) is a Polyphenotypic Thrombotic Disorder

Deficiency in C1 inhibitor (C1INH, SERPING1) is canonically associated with hereditary angioedema (HAE-C1INH) but not thrombosis. To determine the thrombosis risk conferred by loss of C1INH in the general population, we studied genetically-defined C1INH deficiency across 635,823 participants. Functionally deleterious germline coding variation in SERPING1 was rare (~1:10,000), indicating strong gen

Preferences for TB treatment and support delivery models among people living with TB in Eastern Cape, South Africa : a discrete choice experiment

Introduction: South Africa has one of the highest incidence rates of notified tuberculosis (TB) in the world. Achieving TB control requires strengthening treatment and support services. The implementation of differentiated delivery models can be used to improve service quality and enhance retention in care. This study aimed to identify treatment and support delivery preferences among people on TB

Safety profile after prolonged C3 inhibition

The central component of the complement cascade, C3, is involved in various biological functions, including opsonization of foreign bodies, clearance of waste material, activation of immune cells, and triggering of pathways controlling development. Given its broad role in immune responses, particularly in phagocytosis and the clearance of microbes, a deficiency in complement C3 in humans is often

Runaway uncoupling in 2,4-dinitrophenol poisoning : Clinical and mitochondrial observations from two cases

2,4-Dinitrophenol (DNP) is a potent mitochondrial uncoupler briefly marketed in the 1930s as a weight-reducing agent before being banned by the FDA after reports of severe toxicity. Since the early 2000s, DNP has reemerged as an illicit "fat-burner", causing characteristic metabolic disturbances with a high risk of fatal outcome. We describe two Swedish cases of DNP poisoning: one fatal after suic

Healthcare utilization and costs in the first two years after heart failure diagnosis : an observational study by phenotype in southwestern Sweden

Aim: Assess healthcare utilization and direct costs for heart failure (HF) during the first two years post-diagnosis across HF subgroups. Methods: This retrospective population-based study included patients with HF aged 40–90 years in Region Halland. HF subgroups were defined based on echocardiographic ejection fraction, including HF with reduced ejection fraction (HFrEF), mildly reduced ejection

Engineered phage-derived lysins effectively kill mycobacterial pathogens

Antimicrobial resistance in pathogenic mycobacteria remains a critical challenge due to poor drug penetration through their complex cell wall, which necessitates prolonged multidrug regimens. Mycobacteriophages encode a lytic machinery that can disrupt this barrier. In this research article, we describe a modular mycolysin platform combining phage enzymes Lysin A and Lysin B with outer membrane-pe

Mechanical stability and fracture behavior of the WOs sigma phase: Effects of composition and lattice-site occupancy : effects of composition and lattice-site occupancy

Precipitates of the topologically close-packed (TCP) phases can significantly impact a material’s mechanical and fracture properties. This theoretical study uses ab initio modeling to investigate the phase of WOs, focusing on composition-dependent mechanical and fracture-related properties. We find the effect of Os on WOs to be stronger than that of Re in WRe phase, with the WOs phase exhibiting p

BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines

Age-adjusted incidence rates of breast cancer vary more than 10-fold worldwide, with the highest rates reported in North America and Europe. The highest breast cancer incidence rates in Southeast Asia have been reported for the Manila Cancer Registry in the Philippines, with an age-standardized rate of 47.7 per 100,000 per year. The possible contribution of hereditary factors to these elevated rat

Tidal interaction can stop galactic bars : On the LMC non-rotating bar

Context. The bar pattern speed of the LMC has been computed based on data from Gaia DR3 using three different methods. One method suggested that the LMC might be hosting a bar that barely rotates, and is slightly counter-rotating with respect to the disc of the LMC, with a pattern speed of Ωp = −1.0 ± 0.5 km s−1 kpc−1. Aims. We aim to confirm that tidal interactions might prevent the bar hosted by

Skånska småvatten nu och då : jämförelse mellan 1940, 1980 och 2000-talet

Populärvetenskaplig sammanfattning: Småvatten i form av dammar och våtmarker har en viktig funktion i både den terrestra och akvatiska miljön. De fungerar till exempel som buffert för näringsämnen från att flöda ut i havet och dem ökar den biologiska mångfalden bland växter och djur. De flesta antropogena småvattnen har sitt ursprung från 1800-talet och 1900-talets början, då näringsrik märgelleraSmall water bodies in the shape of ponds and wetlands have an important function in both the terrestrial and the aquatic environment. They serve as a buffer to prevent rash out-flow of nutrients into the oceans and they maintain biological diversity for plants and animals. Most anthropogenic small waters originated in the 19th century and beginning of 20th century. During this time, good fertilizi

Microorganisms and volatile organic compounds in airborne dust from damp residences

Airborne dust samples from damp (n = 9) and control (n = 9) residences were analyzed for microorganisms (molds and bacteria), bacterial markers (3-hydroxy fatty acids and muramic acid), and adsorbed volatile organic compounds (VOCs). The number of mold species was greater in the damp residences than in the controls (23 vs.18) and nine mold species were found only in damp residences. The levels of

Improvements in absorbed dose measurements for external radiation therapy using ferrous dosimeter gel and MR imaging (FeMRI)

A ferrous gel, based on ferrous (Fe) sulphate and agarose, was used with a clinical magnetic resonance imaging (MRI) scanner to obtain relative dose distribution data from therapeutic photon and electron beams. The FeMRI gel was scanned using a new MRI acquisition protocol optimized for T1 measurements. Thorough comparisons with silicon semiconductor detector and ionization chamber measurements, a

Language impairment in Swedish bilingual children - epidemiological and linguistic studies

Popular Abstract in Swedish Det svenska samhället har förändrats mycket genom invandring under de senaste årtiondena. Många barn i Sverige har idag ett annat modersmål än svenska. De flesta barn tillägnar sig svenska utan problem, medan så inte är fallet för vissa barn. Dessa skillnader har diskuterats, och olika förklaringar till detta har framhållits, till exempel bristfällig exponering för svenThe aim of this thesis was to provide both epidemiological and linguistic data on bilingual children with language impairment (LI), since few data on this group exist. Data from 438 bilingual and monolingual children, referred over a period of 12 months, were compared in the first epidemiological study. The results showed that the bilingual children with suspected LI were referred significantly l

Non-invasive Urine Test for Molecular Classification of Clinical Significance in Newly Diagnosed Prostate Cancer Patients

Objective: To avoid over-treatment of low-risk prostate cancer patients, it is important to identify clinically significant and insignificant cancer for treatment decision-making. However, no accurate test is currently available. Methods: To address this unmet medical need, we developed a novel gene classifier to distinguish clinically significant and insignificant cancer, which were classified ba

Adipocytes are larger in lymphedematous extremities than in controls

Lymphedema is caused by dysfunctional lymph vessels or as a complication of cancer treatment leading to edema and adipose tissue deposition. One hypothesis is that adipocyte hypertrophy contributes to the volume increase in lymphedema. The aim of the study was to compare adipocyte size in arm and leg lymphedema and controls. The adipocyte size difference was also compared between the arms and legs

Multidimensional diffusion magnetic resonance imaging for characterization of tissue microstructure in breast cancer patients : A prospective pilot study

Diffusion-weighted imaging is a non-invasive functional imaging modality for breast tumor characterization through apparent diffusion coefficients. Yet, it has so far been unable to intuitively inform on tissue microstructure. In this IRB-approved prospective study, we applied novel multidimensional diffusion (MDD) encoding across 16 patients with suspected breast cancer to evaluate its potential

Pattern, timing and predictors of recurrence after surgical resection of chromophobe renal cell carcinoma

Purpose: Currently there are no specific guidelines for the post-operative follow-up of chromophobe renal cell carcinoma (chRCC). We aimed to evaluate the pattern, location and timing of recurrence after surgery for non-metastatic chRCC and establish predictors of recurrence and cancer-specific death. Methods: Retrospective analysis of consecutive surgically treated non-metastatic chRCC cases from

Clinical characteristics distinguishing tramadol-using adolescents from other substance-using adolescents in an out-patient treatment setting

Background: Non-medical Prescription Opioid Use (NMPOU) has increased worldwide during the last decades, and specifically, tramadol misuse may represent a novel pattern of substance use among adolescents. The present study aims to analyze characteristics distinguishing tramadol-using adolescents from other substance-using adolescents seeking out-patient treatment. Methods: This is a cross-sectiona