Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.

Objective: Limb-girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I), caused by variants in the fukutin-related protein (FKRP) gene leads to progressive muscle weakness of the shoulder and pelvic limb-girdles and loss of motor function over time. Clinical management and future trial design are improved by determining which standardized clinical outcome assessments (COA) of function are most appropriate to capture disease presentation and progression, informing endpoint selection and enrollment criteria. The purpose of our study was to evaluate the cross-sectional validity and reliability of clinical outcome assessments in patients with FKRP-related LGMDR9 participating in the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP) natural history study.

Training emotional competencies at the workplace: a systematic review and metaanalysis.

Recent systematic reviews have shown that emotional competencies can be improved through training. In the workplace, such training has become increasingly popular over the last decade. These programs aim to enhance emotional intelligence, empathy or emotion regulation.

Artificial intelligence in rheumatology: status quo and quo vadis-results of a national survey among German rheumatologists.

Background: The development and potential of artificial intelligence (AI) is remarkable. Its application in all medical disciplines, including rheumatology, is attracting attention. To what extent AI is already used in clinical routine in rheumatology is unknown.

Inflammation of the temporalis muscle and adjacent nerve tissue in giant cell arteritis: expanding the spectrum of inflammatory lesions.

Objectives: To investigate the histopathological features of the temporalis muscle (TM) and adjacent nerve tissue in active cranial giant cell arteritis (C-GCA).

Methods: Temporal artery biopsy (TAB) specimens containing fragments of the TM from patients with active C-GCA fulfilling the 2022 ACR/EULAR classification criteria (n = 11) were assessed by conventional histology and immunohistochemistry in comparison with non-GCA controls (n = 3). Clinical, laboratory and imaging features based on patient charts at time of biopsy were retrospectively recorded.

Visual and patient reported outcomes provided by a refractive multifocal intraocular lens based on continuous transitional focus.

Purpose: To analyze the quality of vision of patients implanted bilaterally with the multifocal Precizon Presbyopic intraocular lens (IOL), as well as to evaluate the visual performance provided by the lens.

Setting: Vissum Miranza Alicante.

Design: Prospective multicenter study.

Number of Facial Hair Corresponds to Frequency of Spontaneous Face-Touch in Humans.

People all over the world, independent of their culture or background, touch their faces up to 800 times per day. No other part of the body is touched as often as the face. Forehead, nose, and chin-the so-called T-zone of the face-are touched particularly frequently during spontaneous facial self-touches (sFST).

Relationship between serum vitamin D concentration and parameters of gonadal function in infertile male patients.

Background: Vitamin D (vitD) deficiency could affect male reproductive function. Our objective was to investigate the relationship between serum vitD concentrations and hormonal and seminal parameters in infertile patients and to compare the results with those in healthy controls.

Materials And Methods: Infertile patients (n 29) and normozoospermic healthy donors (n 27) were recruited for the study.

Endogenous Bornavirus-like Elements in Bats: Evolutionary Insights from the Conserved Riboviral L-Gene in Microbats and Its Antisense Transcription in .

Bats are ecologically diverse vertebrates characterized by their ability to host a wide range of viruses without apparent illness and the presence of numerous endogenous viral elements (EVEs). EVEs are well preserved, expressed, and may affect host biology and immunity, but their role in bat immune system evolution remains unclear. Among EVEs, endogenous bornavirus-like elements (EBLs) are bornavirus sequences integrated into animal genomes.

Under pressure - Association of the arm position and leading circulatory structure behind the pressure point in cardiopulmonary resuscitation patients.

Background: Thoracic computed tomography scans (CT) are used by several study groups to investigate the circulatory structures (heart and vessels) located behind the pressure point for chest compressions. Yet, it remains unclear how the positioning of these structures is influenced by factors such as intubation, the respiratory cycle and arm positioning.

Methods: We retrospectively analyzed data of adult patients with in- or out-of-hospital cardiac arrest who underwent thoracic CT imaging within one year before or up to six months after arrest.

Ebeam Technology - Transfer Technology for Pre-Sterilized RTU Components.

With increased demand on sealed packed, pre-sterilized ready-to-use (RTU) components like Syringes & Vials, the ebeam technology is used as transfer technology with surface decontamination for transfer of the RTU in a GRADE A environment like an Isolator.

A multicenter study on accuracy and reproducibility of nanopore sequencing-based genotyping of bacterial pathogens.

Nanopore sequencing has shown the potential to democratize genomic pathogen surveillance due to its ease of use and low entry cost. However, recent genotyping studies showed discrepant results compared to gold-standard short-read sequencing. Furthermore, although essential for widespread application, the reproducibility of nanopore-only genotyping remains largely unresolved.

RIBAP: a comprehensive bacterial core genome annotation pipeline for pangenome calculation beyond the species level.

Microbial pangenome analysis identifies present or absent genes in prokaryotic genomes. However, current tools are limited when analyzing species with higher sequence diversity or higher taxonomic orders such as genera or families. The Roary ILP Bacterial core Annotation Pipeline (RIBAP) uses an integer linear programming approach to refine gene clusters predicted by Roary for identifying core genes.

Landiolol for refractory ventricular fibrillation in out-of-hospital cardiac arrest: A randomized, double-blind, placebo-controlled, pilot trial.

Background: Out-of-hospital cardiac arrest (OHCA) complicated by refractory ventricular fibrillation (VF) is associated with poor outcome. Beta-1-receptor selective blockade might overcome refractory VF and improve survival. This trial investigates the efficacy and safety of prehospital landiolol in OHCA and refractory VF.

Sequencing accuracy and systematic errors of nanopore direct RNA sequencing.

Background: Direct RNA sequencing (dRNA-seq) on the Oxford Nanopore Technologies (ONT) platforms can produce reads covering up to full-length gene transcripts, while containing decipherable information about RNA base modifications and poly-A tail lengths. Although many published studies have been expanding the potential of dRNA-seq, its sequencing accuracy and error patterns remain understudied.

Results: We present the first comprehensive evaluation of sequencing accuracy and characterisation of systematic errors in dRNA-seq data from diverse organisms and synthetic in vitro transcribed RNAs.

Addressing pandemic-wide systematic errors in the SARS-CoV-2 phylogeny.

The SARS-CoV-2 genome occupies a unique place in infection biology - it is the most highly sequenced genome on earth (making up over 20% of public sequencing datasets) with fine scale information on sampling date and geography, and has been subject to unprecedented intense analysis. As a result, these phylogenetic data are an incredibly valuable resource for science and public health. However, the vast majority of the data was sequenced by tiling amplicons across the full genome, with amplicon schemes that changed over the pandemic as mutations in the viral genome interacted with primer binding sites.

Enrichment and Quantitation of Dipeptidyl Peptidase IV Inhibitory Peptides in Quinoa upon Systematic Malting.

Food-derived peptides with an inhibitory effect on dipeptidyl peptidase IV (DPP-IV) can be used as an additive treatment for type 2 diabetes. The inhibitory potential of food depends on technological protein hydrolysis and gastrointestinal digestion, as the peptides only act after intestinal resorption. The effect of malting as a hydrolytic step on the availability of these peptides in grains has yet to be investigated.

Human iPSC-Derived Neurons with Reliable Synapses and Large Presynaptic Action Potentials.

Understanding the function of the human brain requires determining basic properties of synaptic transmission in human neurons. One of the most fundamental parameters controlling neurotransmitter release is the presynaptic action potential, but its amplitude and duration remain controversial. Presynaptic action potentials have so far been measured with high temporal resolution only in a limited number of vertebrate but not in human neurons.