Familial isolated GH deficiency type II (IGHD-II) is an autosomal dominant disorder that has been previously shown in some patients to be caused by heterogeneous GH gene defects that affect GH messenger RNA (mRNA) splicing. We report here our finding of multiple G-->A transitions of the first base of the donor splice site of IVS 3 (+ 1G-->A) in IGHD II subjects from three nonrelated kindreds from

OBJECTIVE: To systematically evaluate timely reporting of clinical trial results at medical universities and university hospitals in the Nordic countries.STUDY DESIGN AND SETTING: In this cross-sectional study, we included trials (regardless of intervention) registered in the EU Clinical Trials Registry and/or ClinicalTrials.gov, completed 2016-2019, and led by a university with medical faculty or

BackgroundPatient education and dialogue are important when choosing a future treatment strategy for patients with chronic kidney disease. To support patients in their decision-making process, it is critical to provide information in a way that patients can understand. This study was conducted to understand how nephrologists view the goals of information sharing, the challenges involved, and the s

Background and objective The Scania Accelerated Intermittent Theta-burst Implementation Study (SATIS) aimed to investigate the tolerability, preliminary effectiveness, and practical feasibility of an accelerated intermittent theta burst stimulation (aTBS) protocol in treating depression. Methods We used an open-label observational design, recruiting 20 patients (aged 19–84 years) from two public b

Aims: TCF7L2 rs7903146 is the most impactful single genetic risk variant for type 2 diabetes. However, its role on disease progression, complications and mortality among people with type 2 diabetes at diagnosis remains unclear. Materials and Methods: We assessed the per allele impact of the rs7903146 T-allele on clinical characteristics and complication risk in 9231 individuals with type 2 diabete

Purpose: The purpose is to investigate how the coronavirus disease 2019 (COVID-19) pandemic changed relocation behavior in an advanced economy. We compare manufacturing relocations before and during the pandemic to identify differences and similarities over time and between offshoring and backshoring. Design/methodology/approach: We use an exploratory longitudinal trend survey approach with data f

AimsThe higher incidence of myocardial infarction (MI) during national holidays could be caused by overindulgence of food and beverages, potentially straining the heart of vulnerable individuals. Monitoring decreased thoracic impedance by cardiac implantable electronic devices (CIED) can be used for detection of fluid accumulation. We aimed to assess the relationship between cardiac metrics and na

Background: The incorporation of artificial intelligence (AI) into point-of-care ultrasound (POCUS) platforms has rapidly increased. The number of B-lines present on lung ultrasound (LUS) serve as a useful tool for the assessment of pulmonary congestion. Interpretation, however, requires experience and therefore AI automation has been pursued. This study aimed to test the agreement between the AI

BackgroundImpulsive-compulsive disorders (ICDs) are commonly acknowledged as side effects of dopaminergic therapy in Parkinson’s disease (PD). While many large-scale studies have focused on prevalences and high-risk treatments, little is known about practical management of ICDs in clinical care and patients’ experiences.ObjectiveTo investigate how ICDs are recognized in clinical PD care, clinical

Background and aims: Good Selenium (Se) status predicts favorable prognoses for various diseases and a reduced overall mortality. The primary objective of the study was to determine whether Selenium status, i.e. Selenoprotein P (SeP) levels, is associated with risk of 90-day mortality in elderly patients with acute dyspnea at the Emergency Department (ED). Methods and results: Patients presenting

Background/Aim: Type 1 diabetes is an autoimmune disease that involves the development of autoantibodies against pancreatic islet beta-cell antigens, preceding clinical diagnosis by a period of preclinical disease activity. As screening activity to identify autoantibody-positive individuals increases, a rise in presymptomatic type 1 diabetes individuals seeking medical attention is expected. Curre

The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders 1–4, but attempts to assess constraint for non-protein-coding regions have proved more difficult. Here we aggregate, process and release a dataset of 76,156 human genomes from the Genome Aggregation Database (gnomAD)—the larges

Anthropogenic nitrogen (N) deposition and fertilization in boreal forests frequently reduces decomposition and soil respiration and enhances C storage in the topsoil. This enhancement of the C sink can be as strong as the aboveground biomass response to N additions and has implications for the global C cycle, but the mechanisms remain elusive. We hypothesized that this effect would be associated w