A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.

Background: The contributions of genetic and environmental risk factors to hidradenitis suppurativa (HS) are both poorly understood.

Objective: To identify sequence variants that associate with HS and determine the contribution of environmental risk factors and inflammatory diseases to HS pathogenesis.

Methods: A genome-wide association meta-analysis of 4,814 HS cases (Denmark: 1,977; Iceland: 1,266; Finland: 800; UK: 569 and US: 202) and 1.

Novel loci and biomedical consequences of iron homoeostasis variation.

Iron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.

Exposure assessment of the European adult population to deoxynivalenol - Results from the HBM4EU Aligned Studies.

Mycotoxins are natural toxins produced by fungi that may cause adverse health effects thus constituting a public health concern. Deoxynivalenol (DON), a mycotoxin affecting the immune system and causing intestinal disorders, was selected as a priority under the European Human Biomonitoring Initiative (HBM4EU). Urinary total DON levels (tDON) of 1270 participants from six countries were used to characterize the internal exposure of the adult European population and identify the most relevant determinants of exposure.

Prevalence of Life Stressors and Posttraumatic Stress Disorder Among Women in Iceland.

Importance: Comprehensive data on the prevalence of various life stressors and their role in posttraumatic stress disorder (PTSD) among women are lacking.

Objective: To determine the prevalence of a broad range of life stressors and their association with PTSD in a large nationally representative cohort of women.

Design, Setting, And Participants: This cross-sectional analysis used data from the population-based Stress-And-Gene-Analysis, which invited women in Iceland to complete an online survey from March 1, 2018, to July 1, 2019.

The Arrival of Highly Pathogenic Avian Influenza Viruses in North America, Ensuing Epizootics in Poultry and Dairy Farms and Difficulties in Scientific Naming.

The highly pathogenic avian influenza virus (HPAIV) H5N1, first isolated in 1996 in China, spread rapidly across Eurasia and caused major epizootics in wild and domesticated birds, as well as spillover infections in humans characterised by high mortality. Avian influenza viruses are therefore candidate viruses for a human pandemic. Surprisingly, HPAIV was not isolated in North America until 2014.

Transformers significantly improve splice site prediction.

Mutations that affect RNA splicing significantly impact human diversity and disease. Here we present a method using transformers, a type of machine learning model, to detect splicing from raw 45,000-nucleotide sequences. We generate embeddings with residual neural networks and apply hard attention to select splice site candidates, enabling efficient training on long sequences.

A core outcome set for best care for the dying person: Results of an international Delphi study and consensus meeting.

Background: Outcome measurement is essential to progress clinical practice and improve patient care.

Aim: To develop a Core Outcome Set for best care for the dying person.

Design: We followed the Core Outcome Measures in Effectiveness Trials (COMET) Initiative guidelines, which involved identifying potential outcomes via a systematic literature review (n = 619 papers) and from participants in the "iLIVE" project (10 countries: 101 patients, 37 family members, 63 clinicians), followed by a two-round Delphi study, and a consensus meeting.

Clinical and non-clinical aspects of reimbursement policy for orphan drugs in selected European countries.

Objectives: The aim of the study was to assess the reimbursement policy for orphan drugs (ODs) in selected European countries in relation to the availability and impact of clinical evidence, health technology assessment (HTA) procedures and reimbursement decision-making.

Materials And Methods: A list of authorized ODs was extracted from a web-based registry of the European Medicines Agency, including information on active substance, Anatomical Therapeutic Chemical (ATC) classification code, and therapeutic area. A country-based questionnaire survey was conducted between September 2022 and September 2023 among selected experts from 12 European countries.

Let´s Swing it -The Interaction Between Participation-Related Shoulder Load and Pre-season Trunk Rotation Power on Shoulder Problems in Male Handball Players.

Background: Little is known about the influence of kinetic chain strength and power on shoulder problems in handball players or the impact of participation-related shoulder load (PSL) during a season. Suboptimal activity of the kinetic chain during throwing might make the shoulder more vulnerable.

Purpose: The purpose of this study was to assess 1) the association between pre-season measurements and shoulder problems among handball players and 2) whether pre-season strength and power influence the association between PSL and severity of shoulder problems.

Endotypic Traits Characterizing Obesity and Sleep-related Hypoventilation in Patients with Obstructive Sleep Apnea.

Rationale: Sleep-related hypoventilation disorder (SHD) is common among obese patients with obstructive sleep apnea (OSA), but the pathological endotypes associated with obesity and SHD remain unclear.

Objectives: To investigate relationship between endotypes with body mass index (BMI) among patients with OSA, and to explore endotypic traits of patients with comorbid SHD.

Methods: We prospectively collected polysomnographic studies of 1364 patients with OSA, and overnight transcutaneous CO2 (TcCO2) measurements among 420 obese patients.

On the feasibility of country-specific and country-general explanations for the increase over time in psychosomatic complaints among Nordic adolescents.

Aims: This study examines the evidence for similar increases in psychosomatic complaints among 15-year-olds in the Nordic countries over the period 2002-2022. A distinction is made between the level and shape of these time trends.

Methods: A dataset from the Health Behaviour in School-aged Children survey from 2002 to 2022 was used.

Secondary Sclerosing Cholangitis due to Drugs With a Special Emphasis on Checkpoint Inhibitors.

Background: Secondary sclerosing cholangitis (SSC), is one of the phenotypes of DILI first described in the 1980s. Check point inhibitors (CPIs) are currently the most frequent cause of SCC.

Aims: To describe the epidemiology, clinical and biochemical features at presentation, differential diagnoses, pathophysiology, imaging, histological characteristics and management associated with SSC.

[Food as migraine trigger].

Background And Aims: Migraine is a neurological disorder that is characterized by severe headaches and temporary motor and sensory disturbances. Migraine triggers are internal or external factors that can increase the likelihood of a migraine attack. Some individuals with migraine associate their attacks with the consumption of certain types of food, but no have been conducted in Iceland.

Corroborating written history with ancient DNA: The case of the Well-man described in an Old Norse .

The potential of ancient DNA analyses to provide independent sources of information about events in the historical record remains to be demonstrated. Here we apply palaeogenomic analysis to human remains excavated from a medieval well at the ruins of Sverresborg Castle in central Norway. In , the Old Norse of King Sverre Sigurdsson, one passage details a 1197-CE raid on the castle and mentions a dead man thrown into the well.