Meta-analyses uncover the genetic architecture of Idiopathic Inflammatory Myopathies.

Objective: Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.

A simple and robust method for laboratory-scale preparation of butter.

The aim of this study was to develop a small-scale model system resembling the micro- and meso-structure of butter, namely having a water droplet size distribution and water content close to that of commercially produced butter. Although it is possible to churn cream on a small scale, matching the microstructure of butter is a challenge. A 2-step churning process was introduced with the application of a kitchen mixer.

Experimental and numerical study of solid needle insertions into human stomach tissue.

Purpose: Oral drug delivery is the Holy Grail in the field of drug delivery. However, poor bioavailability limits the oral intake of macromolecular drugs. Oral devices may overcome this limitation, but a knowledge gap exists on the device-tissue interaction.

Strain Expressed Constitutively High Levels of Sterol 14-α Demethylase mRNA, While Transporter and mRNA Expression Was Induced After Addition of Short Chain Azoles.

is an emerging pathogen causing recalcitrant skin infections and exhibiting multiple resistances to azoles and allylamines. Squalene epoxidase mutants often show association with azole resistance. RT-PCR gene expression analysis helps to elucidate the connection between ergosterol biosynthesis regulation and efflux control through the activation of multidrug resistance (MDR) and major facilitator superfamily (MFS1) transporters as well as heat shock proteins (HSP).

A systematic literature review on clonal evolution events preceding relapse in multiple myeloma.

Despite considerable treatment advances, multiple myeloma (MM) remains an incurable hematological cancer due to treatment resistance. A systematic literature search was conducted to identify determinants for clonal evolution driving relapse and drug resistance in MM. A total of 631 non-duplicate publications were screened of which 28 articles were included for data extraction.

Analytical interference on measurement of immunoglobulins in monoclonal gammopathy.

Monoclonal gammopathy has been reported to interfere with several laboratory measurement results. We investigated potential interference in monoclonal gammopathy on immunoglobulin A (IgA), immunoglobulin G (IgG), and immunoglobulin M (IgM) concentrations using three different routine chemistry instruments: Alinity (Abbott Laboratories), Cobas 8000 (Roche Diagnostics) and Optilite (Binding Site) at the Department of Clinical Biochemistry, Aalborg University Hospital, Denmark. Blood samples collected from 216 patients with known monoclonal gammopathy were analyzed on Alinity, Cobas and Optilite.

Early geriatric assessment and management in older patients with Clostridioides difficile infection in Denmark (CLODIfrail): a randomised trial.

Background: Clostridioides difficile infection causes diarrhoea and colitis. Older patients with C difficile infection are often frail and have comorbidities, leading to high mortality rates. The frailty burden in older people might restrict access to treatments, such as C difficile infection-specific antibiotics and faecal microbiota transplantation.

Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.

Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5000-10,000 persons. In 10-15% the disease is caused by pathogenic variants in EDAR, and most of the known causal variants to date are missense or nonsense variants.

Algorithm for forming hospital care episodes by combining attendance contacts in the Danish National Patient Register: A methodological consensus-driven study.

Background: Studying complete hospital care episodes from register data, for instance when assessing length of stay, discharges and readmissions, can cause methodological difficulties due to the lack of a contact linkage identifier. We aimed to develop an algorithm combining sequential attendance contacts in the Danish National Patient Register (DNPR) into hospital care episodes, spanning the entire duration and all contacts from hospital arrival to departure.

Methods: The algorithm was developed under the consensus of experts from research institutions across Denmark.

The curious case of the Dana platypus and what it can teach us about how lead shotgun pellets behave in fluid preserved museum specimens and may limit their scientific value.

Fluid preserved animal specimens in the collections of natural history museums constitute an invaluable archive of past and present animal diversity. Well-preserved specimens have a shelf-life spanning centuries and are widely used for e.g.

Effects of 12-Week Supplementation with Coffee Diterpene Cafestol in Healthy Subjects with Increased Waist Circumference: A Randomized, Placebo-Controlled Trial.

: Coffee consumption is inversely associated with type 2 diabetes. Cafestol, a bioactive compound in coffee, has demonstrated glucose-lowering and insulin-secretory properties in cell and animal studies. The acute effects of cafestol on glucose metabolism in humans have only been briefly investigated, and longer-term effects have not been explored.

Continuous infusion of resolvin D2 in combination with Angiotensin-II show contrary effects on blood pressure and intracardiac artery remodeling.

Specialized pro-resolving mediators (SPMs) are key effectors of resolution of inflammation. This is highly relevant for cardiac and vessel remodeling, where the net inflammatory response contributes to determine disease outcome. Herein, we used a mice model of angiotensin (Ang)-II-induced hypertension to study the effect of the SPM Resolvin D2 (RvD2), on hypertension and cardiac remodeling.

Nothing about us without us: Sharing results with communities that provide genomic data.

Sharing genetic and other study results with the communities who participate in research falls under benefit-sharing and capacity-building initiatives that underpin a more equitable biomedical research relationship. Yet, which results to return and how remain fundamental challenges that persist in the absence of practical guidance and institutional policies. Here, we discuss how the return of results can be implemented across different geographies, study designs, and project budgets.

The impact of multidisciplinary geriatric follow-up on quality of life in older, non-surgical prefrail and frail patients with cancer A randomized controlled trial.

Introduction: Cancer management in older frail patients can be complex, given the high decline in functional status, comorbidity, and limited life expectancy affecting this group of patients. Therefore, this study aimed to investigate whether oncological treatment combined with comprehensive geriatric assessment (CGA) and tailored follow-up interventions improved or maintained quality of life (QoL) in older prefrail and frail patients with cancer.

Materials And Methods: A single-center randomized controlled trial included participants aged 70 or older with head, neck, lung, upper gastrointestinal tract, colon, or rectum cancer referred to non-surgical treatment.

Tailoring polarization in WSe quantum emitters through deterministic strain engineering.

Quantum emitters in transition metal dichalcogenides (TMDs) have recently emerged as a promising platform for generating single photons for optical quantum information processing. In this work, we present an approach for deterministically controlling the polarization of fabricated quantum emitters in a tungsten diselenide (WSe) monolayer. We employ novel nanopillar geometries with long and sharp tips to induce a controlled directional strain in the monolayer, and we report on fabricated WSe emitters producing single photons with a high degree of polarization (99 ± 4%) and high purity ( (0) = 0.

Disseminated MDR-TB missed in a patient treated with TNF inhibitor.

A previously healthy man developed pulmonary symptoms 2 weeks after starting treatment with a tumour necrosis factor (TNF) inhibitor. A negative interferon-gamma release assay (IGRA) test was obtained prior to TNF inhibitor exposure, without consideration of the fact that the patient was already immunosuppressed and had a previous positive IGRA test 17 months earlier. The patient was treated for pneumonia twice but did not achieve remission.

Brain Activation and Aberrant Effective Connectivity in the Mentalizing Network of Preadolescent Children at Familial High Risk of Schizophrenia or Bipolar Disorder.

Background: Schizophrenia and bipolar disorder are characterized by social cognitive impairments, and recent research has identified alterations of the social brain. However, it is unknown whether familial high risk (FHR) of these disorders is associated with neurobiological alterations already present in childhood.

Methods: As part of the Danish High Risk and Resilience Study-VIA 11, we examined children at FHR of schizophrenia (n = 121, 50% female) or bipolar disorder (n = 75, 47% female) and population-based control children (PBCs) (n = 128, 48% female).