Search results

LRRK2-PD represents the most common form of autosomal dominant Parkinson’s disease. We identified the LRRK2 p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping data shared a common haplotype. The clinical presentation resembles other LRRK2-PD forms. Combined with published functional evidence show

Importance: Etiologic heterogeneity in breast carcinogenesis needs to be well characterized for targeted prevention. Associations between menopausal hormonal therapy (MHT) and oral contraceptive (OC) use and breast cancer intrinsic-like subtypes are not well understood. Objective: To examine whether exogenous hormone use is differentially associated with breast cancer subtypes and to evaluate hete

Objectives Critically ill COVID-19 patients admitted to the intensive care unit (ICU) are at an increased risk of acquiring bacterial bloodstream infections (BSI). We aimed to describe patient characteristics, risk factors, and the microbiological spectrum in blood cultures and evaluate the impact of ICU-acquired BSI on outcomes in a Nordic setting. Methods A prospective multicenter cohort study w

AbstractBackgroundThe role of nutrient intake in celiac disease pathogenesis is poorly understood.ObjectiveTo examine whether longitudinal childhood intake of selected vitamins and minerals is associated with celiac disease autoimmunity (CDA, primary outcome) and celiac disease (secondary outcome) in genetically at-risk children.MethodsA total of 6,520 HLA-conferred at-risk children in the observa

Whereas the link between impaired male fertility and risk of testicular and prostate cancer is well established, studies investigating non-reproductive cancer risk among men with impaired reproductive function are scarce and show conflicting results. The aim of the study was to compare the risk of developing non-reproductive cancers in men achieving paternity through assisted reproduction as compa

The sum of a random number of independent and identically distributed random vectors has a distribution which is not analytically tractable, in the general case. The problem has been addressed by means of asymptotic approximations embedding the number of summands in a stochastically increasing sequence. Another approach relies on fitting flexible and tractable parametric, multivariate distributionThe sum of a random number of independent and identically distributed random vectors has a distribution which is not analytically tractable, in the general case. The problem has been addressed by means of asymptotic approximations embedding the number of summands in a stochastically increasing sequence. Another approach relies on fitting flexible and tractable parametric, multivariate distribution

Air pollution has been linked to reduced birthweight, but the association with black carbon (BC) remains insufficiently explored. This study examined the association of gestational exposure to BC with birthweight outcomes. We included data on all singleton births in Denmark between 2004 and 2016 (n = 690,898). BC and fine particulate matter (PM2.5) were estimated by high-resolution air pollution m

ObjectivesAutoantibodies against tissue transglutaminase (tTG) are serological markers of celiac disease. The aim was to study the applicability of human leukocyte antigen (HLA)-genotyping and tTG autoantibodies in the screening of celiac disease in a longitudinal birth cohort followed to age 15 years.MethodsIncluded were 13,860 HLA-DQ-genotyped children at birth and previously invited to a screen

ObjectivesOur aim was to study the association between residential land cover and greenness during childhood and risk of developing celiac disease (CeD).MethodsThe Celiac Prediction in Skåne study prospectively followed 5969 human leukocyte antigen (HLA)-genotyped children born 2001–2004 who were screened for CeD at ages 3, 9, and 15 years in Skåne, Sweden. Among these, 138 (2.3%) children only in

Lung transplantation (LTx) remains the only curative treatment for patients with end-stage lung disease, yet long-term outcomes remain inferior to those of other solid organ transplantations, with a 5-year survival below 70%. Major contributors to this limited outcome include primary graft dysfunction (PGD), the leading cause of early mortality, chronic lung allograft dysfunction (CLAD), and low u

The efficiency and durability of Polymer Electrolyte Fuel Cells (PEFCs) depend on optimizing porous media components such as gas diffusion and catalyst layers. In parallel, the Lattice Boltzmann Method (LBM) has emerged as a powerful tool to model fluid flow, mass transport, and multiphase interactions in complex porous structures. This works provides a concise overview of recent advances in apply

There is a need for consensus on the recommendations for follow-up of children and adolescents with celiac disease. Objectives: To gather the current evidence and to offer recommendations for follow-up and management. Methods: The Special Interest Group on Celiac Diseases of the European Society of Paediatric Gastroenterology Hepatology and Nutrition formulated ten questions considered to be essen

OBJECTIVES: To increase the proportion of individuals with hypertension obtaining a blood pressure (BP) of less than 140/90 mmHg by improving the management of hypertension in daily life from a person-centred perspective.METHODS: In this unblinded randomized controlled trial, we tested an interactive web-based self-management system for hypertension. A total of 949 patients with hypertension from

Background: Untreated celiac disease (CD) patients have increased levels of blood glutamine and a lower duodenal expression of glutaminase (GLS). Intestinal gluconeogenesis (IGN) is a process through which glutamine is turned into glucose in the small intestine, for which GLS is crucial. Animal studies suggest impaired IGN may have long-term effects on metabolic control and be associated with the