Identification of a new spliceogenic variant causing severe primary coenzyme Q deficiency.

Background And Aims: Primary Coenzyme Q (CoQ) deficiency caused by defects is a clinically heterogeneous mitochondrial condition characterized by reduced levels of CoQ in tissues. Next-generation sequencing has lately boosted the genetic diagnosis of an increasing number of patients. Still, functional validation of new variants of uncertain significance is essential for an adequate diagnosis, proper clinical management, treatment, and genetic counseling.

Safety and efficacy of faecal microbiota transplantation in patients with acute uncomplicated diverticulitis: study protocol for a randomised placebo-controlled trial.

Background: Little is known about the involvement of gut microbiota in the disease course of diverticulitis and the potential benefits of manipulating the gut milieu. We propose to conduct a randomised placebo-controlled feasibility trial of faecal microbiota transplantation (FMT) given as capsules to patients with acute uncomplicated diverticulitis.

Objectives: The objective is primarily to investigate the feasibility of clinical safety, explore efficacy associated with FMT in this patient population, and examine changes in patient-reported quality of life and the composition and function of the gut microbiota.

The increasing incidence and mortality of bacteremia in Denmark from 2010 to 2022: a population-based nationwide cohort study.

Objectives: An increasing incidence of positive blood cultures has been reported in several countries. This represents an important challenge for public health due to the large number of hospital admissions with high mortality among these patients. This study aims to characterize the epidemiology and mortality associated with positive blood cultures.

Autologous Neurosensory Retinal Flap Transplantation in a Porcine Model of Retinal Hole.

Purpose: Autologous retinal transplantation has been successfully employed in the treatment of large and myopic macular holes that are refractory to standard surgical treatments. Patients transplanted with a peripheral neurosensory retinal graft have shown unexpected improvements in visual acuity. The study aims to investigate if neural integration of the graft takes place in a porcine model of retinal hole.

Limited Benefit of Routine Clinical Follow-Up for Relapse Detection in Diffuse Large B-Cell Lymphoma Patients in Complete Remission Following First-Line Treatment.

Despite advances in treatment, approximately 15% of patients with diffuse large B-cell lymphoma (DLBCL) who achieve complete remission (CR) after first-line therapy will experience a relapse. However, there is no consensus on the optimal follow-up strategies for detecting relapse after achieving CR. This population-based study, based on the Danish Lymphoma Registry (LYFO), identified a total of 1634 patients diagnosed with DLBCL between 2010 and 2017, including 105 patients who achieved CR following first-line R-CHOP-like therapy and subsequently relapsed.

A Simple Endoscopic Score for Crohn's Disease (SES-CD) ≥ 7 Predicts Disease Progression.

Background: Up to 30% of patients with Crohn's disease (CD) will experience a mild disease course. However, there is no consensus definition for mild CD.

Aim: To examine the Simple Endoscopic Score for Crohn's disease (SES-CD) thresholds best associated with low likelihood of long-term disease progression.

Prevalence and Characteristics of Chronic Hand Eczema Among Adults in Denmark: A General Population-Based Study.

Background: The epidemiology of chronic hand eczema (CHE) remains poorly examined.

Objective: To investigate the prevalence of CHE in a general adult population and describe the characteristics of affected individuals.

Methods: We investigated the prevalence and characteristics of CHE using a random sample from the general Danish population (The Danish Skin Cohort).

Immune checkpoint blockade in experimental bacterial infections.

Immune checkpoint inhibitors designed to reinvigorate immune responses suppressed by cancer cells have revolutionized cancer therapy. Similarities in immune dysregulation between cancer and infectious diseases has prompted investigations into the role of immune checkpoints in infectious diseases, including the therapeutic potential of immune checkpoint blockade and drug repurposing. While most research has centered around viral infections, data for bacterial infections are emerging.

Characteristics of eligible patients with knee osteoarthritis accepting versus declining participation in a randomised trial investigating the effect of weight loss versus knee arthroplasty to explore generalisability: A cross-sectional study.

Background: The INtensive diet versus Knee Arthroplasty (INKA) trial is a randomised trial assessing weight loss as an alternative to knee arthroplasty (KA) in obese patients with severe knee osteoarthritis (OA) awaiting KA (NCT05172843). The external validity of the INKA trial may be hampered if the patients who participate differ from those who decline participation.

Objective: To compare baseline characteristics between patients who enrol in the INKA trial and those who decline participation (i.

Long-term prognostic impact of glucagon-like peptide-1 receptor agonist before ST-segment elevation myocardial infarction in patients with type 2 diabetes: a nationwide cohort study.

Background: Glucagon-like peptide-1 receptor agonist (GLP-1RA) treatment reduces cardiovascular events in type 2 diabetes. Yet, the impact of GLP-1RA treatment before ST-segment elevation myocardial infarction (STEMI) on long-term prognosis in patients with type 2 diabetes remains unclear. In patients with STEMI and type 2 diabetes, we aimed to investigate the association between long-term prognosis and GLP-1RA treatment before STEMI.

Negotiating a physically active life in tune with ageing: a grounded theory study of older persons' experiences of participating in high-intensity interval training.

Background: Physical activity and exercise are promoted worldwide as effective interventions for healthy ageing. Various exercise initiatives have been developed and evaluated for their efficacy and effectiveness among older populations. However, a deeper understanding of participants' experiences with these initiatives is crucial to foster long-term activity and exercise among older persons.

Prokineticin 2 protein is diurnally expressed in PER2-containing clock neurons in the mouse suprachiasmatic nucleus.

Expression of prokineticin 2 (PK2) mRNA in the suprachiasmatic nucleus (SCN), also known as the brain's clock, exhibits circadian oscillations with peak levels midday, zeitgeber time (ZT) 4, and almost undetectable levels during night. This circadian expression profile has substantially contributed to the suggested role of PK2 as an SCN output molecule involved in transmitting circadian rhythm of behavior and physiology. Due to unreliable specificity of PK2 antibodies, the 81 amino acid protein has primarily been studied at the mRNA level and correlation between circadian oscillating mRNAs and protein products are infrequent.

Psychometric validation of the Danish BREAST-Q reconstruction module.

Aim/background: Patient-reported outcome measurement instruments are important tools in understanding a breast reconstruction's impact on the patients' quality of life. A psychometric validation is essential before applying a patient-reported outcome measurement instrument in clinical practice and research. The BREAST-Q is a specific, validated questionnaire for breast surgery outcomes that has been translated from English to Danish.

The cerebral blood flow response to neuroactivation is reduced in cognitively normal men with β-amyloid accumulation.

Background: Accumulation of β-amyloid (Aβ) in the brain is a hallmark of Alzheimer's Disease (AD). Cerebral deposition of Aβ initiates deteriorating pathways which eventually can lead to AD. However, the exact mechanisms are not known.

Exposure to childhood maltreatment is associated with specific epigenetic patterns in sperm.

Childhood maltreatment exposure (CME) increases the risk of adverse long-term health consequences for the exposed individual. Animal studies suggest that CME may also influence the health and behaviour in the next generation offspring through CME-driven epigenetic changes in the germ line. Here we investigated the associated between early life stress on the epigenome of sperm in humans with history of CME.

Comprehensive genomic characterization of early-stage bladder cancer.

Understanding the molecular landscape of nonmuscle-invasive bladder cancer (NMIBC) is essential to improve risk assessment and treatment regimens. We performed a comprehensive genomic analysis of patients with NMIBC using whole-exome sequencing (n = 438), shallow whole-genome sequencing (n = 362) and total RNA sequencing (n = 414). A large genomic variation within NMIBC was observed and correlated with different molecular subtypes.

Bacteria use exogenous peptidoglycan as a danger signal to trigger biofilm formation.

For any organism, survival is enhanced by the ability to sense and respond to threats in advance. For bacteria, danger sensing among kin cells has been observed, but the presence or impacts of general danger signals are poorly understood. Here we show that different bacterial species use exogenous peptidoglycan fragments, which are released by nearby kin or non-kin cell lysis, as a general danger signal.

Preoperative estimated glomerular filtration rate to predict cardiac events in major noncardiac surgery: a secondary analysis of two large international studies.

Background: Optimised use of kidney function information might improve cardiac risk prediction in noncardiac surgery.

Methods: In 35,815 patients from the VISION cohort study and 9219 patients from the POISE-2 trial who were ≥45 yr old and underwent nonurgent inpatient noncardiac surgery, we examined (by age and sex) the association between continuous nonlinear preoperative estimated glomerular filtration rate (eGFR) and the composite of myocardial injury after noncardiac surgery, nonfatal cardiac arrest, or death owing to a cardiac cause within 30 days after surgery. We estimated contributions of predictive information, C-statistic, and net benefit from eGFR and other common patient and surgical characteristics to large multivariable models.

Reliability of the OMERACT Giant cell arteritis Ultrasonography Score (OGUS): results of a patient-based exercise involving experts and non-experts in vascular ultrasonography.

Objective: To test the reliability of the Outcome Measures in Rheumatology Giant cell arteritis (GCA) Ultrasonography Score (OGUS) and other composite scores in a patient-based exercise involving experts and non-experts in vascular ultrasonography.

Methods: Six GCA patients were scanned twice (two rounds separated ≥3 hours) by 12 experts and 12 non-experts. Non-experts received 90 min of theoretical and 240 min of practical training between rounds 1 and 2.

EDENT1FI Master Protocol for screening of presymptomatic early-stage type 1 diabetes in children and adolescents.

Introduction: The identification of type 1 diabetes at an early presymptomatic stage has clinical benefits. These include a reduced risk of diabetic ketoacidosis (DKA) at the clinical manifestation of the disease and a significant reduction in clinical symptoms. The European action for the Diagnosis of Early Non-clinical Type 1 diabetes For disease Interception (EDENT1FI) represents a pioneering effort to advance early detection of type 1 diabetes through public health screening.

Demographic and clinical impact on preoperative BREAST-Q ePROM completion and baseline outcomes in women undergoing breast cancer surgery: a quantitative descriptive study at a Danish university hospital.

Objectives: This study aimed to investigate patients' use of electronic Patient-Reported Outcome Measures (ePROMs) and understand the demographic and clinical factors that may be correlated with patient responses to the BREAST-Q at the preoperative stage of breast cancer. The BREAST-Q is a PROM in questionnaire format, developed and validated to assess satisfaction and quality of life for breast surgery patients.The hypothesis tested is that considering disparities in geography, age and education among responders is essential for capturing a diverse patient population in future Patent-Reported Outcome Measures initiatives, examining how these characteristics are associated with Patent-Reported Outcome Measures utilisation and outcomes.