ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.

Background: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity of A-T disease.

External validation of a CT score for predicting ischaemia in adhesive small-bowel obstruction.

Objectives: To assess the diagnostic accuracy, in a validation cohort, of a score based on three CT items, which has shown good performance for predicting ischaemia complicating acute adhesive small-bowel obstruction (SBO).

Methods: This retrospective single-centre study of diagnostic accuracy included consecutive patients admitted for acute adhesive SBO in 2015-2022, who were treated conservatively or underwent surgery within 24 h after CT. The gold standard for ischaemia was an intraoperative diagnosis for operated patients, while the absence of ischaemia was confirmed either by its absence during surgery or by clinical follow-up in patients who did not undergo surgery.

Prognostic value of coronary plaque composition in symptomatic patients with obstructive coronary artery disease.

Objectives: To determine whether plaque composition analysis defined by cardiac CT can provide incremental prognostic value above coronary artery disease (CAD) burden markers in symptomatic patients with obstructive CAD.

Materials And Methods: Between 2009 and 2019, a multicentric registry included all consecutive symptomatic patients with obstructive CAD (at least one ≥ 50% stenosis on CCTA) and was followed for major adverse cardiovascular (MACE) defined by cardiovascular death or nonfatal myocardial infarction. Each coronary segment was scored visually for both the degree of stenosis and composition of plaque, which were classified as non-calcified, mixed, or calcified.

Streamlining the Journey of Research Into Clinical Practice: Making Your Patients and Practice Flourish Evaluation and Treatment of Pyogenic Spondylodiscitis of the Spine: AO Spine Knowledge Forum Trauma and Infection.

Study Design: Literature Review with clinical recommendations.

Objective: To highlight impactful studies on pyogenic spondylodiscitis (PS), identified by the AO Spine Knowledge Forum Trauma and Infection, with recommendations for their integration into clinical practice.

Methods: Five influential studies on PS that have the potential to shape current practice in spinal infections were selected and reviewed.

Persistence of the Immune Response to an Intramuscular Bivalent (GI.1/GII.4) Norovirus Vaccine in Adults.

Background: Major global economic and health burdens due to norovirus gastroenteritis could be addressed by an effective vaccine.

Methods: In this study, 428 adult recipients of various compositions of the norovirus vaccine candidate, HIL-214, were followed for 5 years, to assess immune responses to its virus-like particle antigens, GI.1 and GII.

Immunobridging Trials: An Important Tool to Protect Vulnerable and Immunocompromised Patients Against Evolving Pathogens.

Safeguarding patients from emerging infectious diseases demands strategies that prioritise patient well-being and protection. Immunobridging is an established trial methodology which has been increasingly employed to ensure patient protection and provide clinicians with swift access to vaccines. It uses immunological markers to infer the effectiveness of a new drug through a surrogate measure of efficacy.

A New Deep Learning-Based Method for Automated Identification of Thoracic Lymph Node Stations in Endobronchial Ultrasound (EBUS): A Proof-of-Concept Study.

Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a cornerstone in minimally invasive thoracic lymph node sampling. In lung cancer staging, precise assessment of lymph node position is crucial for clinical decision-making. This study aimed to demonstrate a new deep learning method to classify thoracic lymph nodes based on their anatomical location using EBUS images.

Immunohistochemistry for Immunoglobulin G4 on Paraffin Sections as a Diagnostic Test for Pemphigus.

Pemphigus is a group of autoimmune bullous diseases mediated by autoantibodies most often of the immunoglobulin G class, subclasses immunoglobulin G1, and immunoglobulin G4 (IgG4), directed against desmosomal adhesion proteins of keratinocytes. This study aimed to evaluate IgG4 immunoreactivity on paraffin sections using immunohistochemistry in patients with pemphigus as a diagnostic test. Fifty formalin-fixed paraffin-embedded specimens from patients with pemphigus were selected.

Management of Anterior Choroidal Artery Aneurysms: A Retrospective Cohort Study.

Anterior choroidal artery (AChoA) aneurysms pose a challenge for both endovascular and clipping procedures. The eloquent territory supplied by the parent vessel has limited collateralization and its compromise can lead to significant morbidity. This study aims to analyze the clinical outcomes and procedure-related complications of clipping and endovascular treatment of AChoA aneurysms to aid physician decision making.

Diffusion weighted imaging to predict longer term response in Crohn's disease patients commencing biological therapy: Results from the MOTILITY Trial.

Objectives: Predicting longer term response to biological therapy for small bowel Crohn's disease (SBCD) is an unmet clinical need. Diffusion-weighted MR imaging (DWI) may indicate disease activity, but its predictive ability, if any, is unknown. We investigated the prognostic value of DWI for one year response or remission (RoR) in SBCD patients commencing biologic therapy, including incremental value over C-reactive protein (CRP) and faecal calprotectin (FC).

Novel Real-Time Fluoroscopic Assessment Method of Transcatheter Heart Valve Expansion Following Balloon-Expandable TAVR.

Background: Transcatheter heart valve (THV) underexpansion after transcatheter aortic valve replacement may be associated with worse outcomes. THV expansion can be assessed fluoroscopically using a pigtail for calibration; however, the accuracy of this technique specific to transcatheter aortic valve replacement is unknown. We assessed the accuracy and reproducibility of a novel fluoroscopic method to assess THV expansion using the THV commissural post for calibration.

Somatic mutations and DNA methylation identify a subgroup of poor prognosis within lower-risk myelodysplastic syndromes.

Lower risk (LR) myelodysplastic syndromes (MDS) are heterogeneous hematopoietic stem and progenitor disorders caused by the accumulation of somatic mutations in various genes including epigenetic regulators that may produce convergent DNA methylation patterns driving specific gene expression profiles. The integration of genomic, epigenomic, and transcriptomic profiling has the potential to spotlight distinct LR-MDS categories on the basis of pathophysiological mechanisms. We performed a comprehensive study of somatic mutations and DNA methylation in a large and clinically well-annotated cohort of treatment-naive patients with LR-MDS at diagnosis from the EUMDS registry (ClinicalTrials.

Hamstrings and quadriceps muscle size and strength in female and male elite competitive alpine skiers.

Competitive alpine skiing requires a high level of physical fitness to perform sport-specific manoeuvres and to minimise the risk of injury. The aim of this study was to establish reference values for the maximal anatomical cross-sectional area (ACSA) of the individual hamstrings (HAM) and quadriceps (QUAD) muscles as well as for the maximal voluntary torque (MVT) during knee flexion (KF) and knee extension (KE) of female and male elite competitive alpine skiers. Ultrasound and dynamometer data were obtained from a largely overlapping but not identical dataset.

Definition of a European pre-vasectomy scoring system to identify patients at risk of vasectomy regret.

Introduction: Vasectomy is a widely used, safe, effective method of permanent contraception and contributes to healthy sexuality.

Aims: We have conducted a 3-step observational clinical study to develop a vasectomy regret risk score and guide patients and clinicians when discussing a vasectomy.

Methods: A 3-step approach has been followed.

Effectiveness of the application of a digitalized repository on the quality of graduate and post-graduate education in the field of physical medicine and rehabilitation.

Background: During last ten years, we have developed a digital library with educational materials in Physical medicine and rehabilitation.

Objectives: The objective of current article is the preparation of an electronic library with educational materials in the area of physical medicine, physical therapy and rehabilitation, and the comparative evaluation of the impact of this repository on the quality of education of students and trainees in the field.

Methodology: The electronic library includes e-books on different topics, elements of the specialty "Physical and rehabilitation medicine (PRM)" or Physiatry - with theoretical data, practical issues and case reports with videos of real patients.

Emergency department visits for patients with end-stage kidney disease in Korea: registry data from the National Emergency Department Information System 2019-2021.

Background: Patients with end-stage kidney disease (ESKD) frequently visit the emergency department (ED) due to complications from comorbidities and dialysis. This study aimed to investigate the clinical outcomes and patterns of ED visits, hospitalizations, and in-hospital mortality among ED visits by ESKD patients in South Korea.

Methods: This study utilized data from the National Emergency Department Information System from 2019 to 2021.

A User-Centered Design Approach for a Screening App for People With Cognitive Impairment (digiDEM-SCREEN): Development and Usability Study.

Background: Dementia is a widespread syndrome that currently affects more than 55 million people worldwide. Digital screening instruments are one way to increase diagnosis rates. Developing an app for older adults presents several challenges, both technical and social.

Dysregulation of transposable elements and PIWI-interacting RNAs in myelodysplastic neoplasms.

Background: Myelodysplastic neoplasms (MDS) are heterogeneous hematopoietic disorders characterized by ineffective hematopoiesis and genome instability. Mobilization of transposable elements (TEs) is an important source of genome instability leading to oncogenesis, whereas small PIWI-interacting RNAs (piRNAs) act as cellular suppressors of TEs. However, the roles of TEs and piRNAs in MDS remain unclear.

Association between white blood cell count and coronary artery bypass graft failure: an individual patient data analysis of clinical trials.

Background: Baseline systemic inflammation is associated with worse long-term outcomes after coronary artery bypass grafting [CABG], but the mechanisms of this association are unclear. This study aims to explore the association between pre-operative white blood cell [WBC] count and CABG graft failure.

Methods: We pooled individual patient data from two randomized clinical trials with systematic CABG graft imaging.

Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences.

Carcinogenesis encompasses processes that lead to increased mutation rates, enhanced cellular division (tumour growth), and invasive growth. Colorectal cancer (CRC) carcinogenesis in carriers of pathogenic APC (path_APC) and pathogenic mismatch repair gene (path_MMR) variants is initiated by a second hit affecting the corresponding wild-type allele. In path_APC carriers, second hits result in the development of multiple adenomas, with CRC typically emerging after an additional 20 years.

IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice.

Background: Asthenozoospermia (ASZ) accounts for about 20-40% of male infertility, and genetic factors, contributing to 30-40% of the causes of ASZ, still need further exploration. Radial spokes (RSs), a T-shaped macromolecular complex, connect the peripheral doublet microtubules (DMTs) to a central pair (CP), forming a CP-RS-DMT structure to regulate the beat frequency and amplitude of sperm flagella. To date, many components of RSs and their functions in human sperm flagella remain unclear.

Clinical outcome and volumetric 3D analysis of biofluorescence imaging system guided surgery for Medication-Related Osteonecrosis of the Jaw(MRONJ).

Background: This study aims to evaluate the clinical outcome of biofluorescent imaging system (BIS) guided MRONJ surgery through analyzing 3D volumetric changes in CBCT data of bone structure.

Methods: BIS-guided surgery for MRONJ surgery was performed by grinding red-fluorescent area from remained residual bone detected by Qray-pen. CBCT data was collected preoperatively, postoperatively, and at last follow-up more than 3 months of each patient.