Exploration of histone protein γ-H2AX as a prognostic factor in soft tissue sarcomas and its association with biological behavior, immune cell environment and survival in leiomyosarcoma.

This study evaluates the H2AX/γ-H2AX expression in soft tissue sarcomas (STS), its implications for biological behavior and immune environment, and its potential as a prognostic biomarker. RNA-Seq data from 237 STS were obtained from The Cancer Genome Atlas project. Patients were stratified by H2AX mRNA expression using a survival-associated cutoff.

Modeling heterogeneity in the progression of chronic kidney disease.

Cohort studies with comprehensive follow-up periods that track patients with chronic kidney disease (CKD) and gather extensive health data are important for understanding the diverse progression patterns of CKD. This review explores the potential of emerging analytical techniques that can be applied in addition to conventional analysis approaches to enhance CKD research, by offering more detailed insights into disease progression. To maximize the insights available from CKD cohort data with extended follow-up, we examined two advanced approaches: analysis of disease trajectories and of recurrent events.

Cone beam computed tomography - Frequency and exposure settings at University (Dental) hospitals in Central and Northern Europe.

Purpose: To investigate the frequency of CBCT scans, the exposure settings, volume sizes and the patient demographics (age and sex) of patients undergoing CBCT scans in university-based dental hospitals in different European countries over a one-year period.

Method: Eight University Dental Hospitals from eight countries in central and northern Europe agreed to collect data from their CBCT-databases. Exposure data including field of view (FOV), dose area product (DAP) and optimization settings plus (anonymous) age and sex of the patients were collected for the entire year 2023.

ESR Essentials: Image evaluation of patients with seizures and epilepsy-practice recommendations by the European Society of Neuroradiology.

Epilepsy, a neurological disorder characterised by recurrent seizures, poses significant challenges in diagnosis, treatment, and management. Understanding the underlying causes and identifying precise anatomical locations of epileptogenic foci are critical for effective management strategies, particularly in drug-resistant patients. Neuroimaging techniques, particularly magnetic resonance (MR), play a pivotal role in the evaluation of epilepsy patients, offering insights into structural abnormalities, epileptogenic lesions, and functional alterations within the brain.

Self-assessment and learning motivation in emergency point-of-care ultrasound: an online pilot investigation in German physicians.

Introduction: Learning motivation is essential to obtain and maintain ultrasound competencies in emergency medicine. One's competencies herein and the need for ongoing training are best evaluated by self-assessment. This may be flawed by overconfidence effects - the belief to be better than others or better than tests reveal.

Assessing the Effectiveness of metaHelper: A Randomized Controlled Trial of a Web Application for Statistical Transformations in Meta-Analysis.

Objective: To test whether the use of a web application (www.metaHelper.eu) can reduce errors and time needed for statistical transformations commonly performed for meta-analysis.

Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.

Purpose: Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted in the need for optimisation of transition and transfer of care to adult services. Effective transition is crucial to improve health outcomes and treatment compliance among patients. Evaluations of existing transition programmes in European health centres identified the absence of disease-specific transition guidelines for PID and AID, as a challenge to the transition process.

Born to be wild: utilizing natural microbiota for reliable biomedical research.

Laboratory mice housed under specific pathogen-free (SPF) conditions are the standard model in biomedical research. However, experiments with a particular inbred mouse strain performed in different laboratories often yield inconsistent or conflicting data due to housing-specific variations in the composition and diversity of SPF microbiota. These variations affect immune and nonimmune cell functions, leading to systemic physiological changes.

Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients.

Epidermolysis Bullosa (EB) is a group of genetic skin disorders characterized by extreme skin fragility and blistering. In North African countries, including Tunisia, complex genetic and phenotypic diversity is entangled with a scarcity of scientific research on EB. This lack of knowledge presents a distinct challenge in terms of diagnostic accuracy and patient care.

Molecular diagnostics using the QIAstat-Dx syndromic device for covering avian influenza pandemic preparedness.

Introduction: A key factor in influenza pandemic preparedness is the ability to detect zoonotic influenza virus strains as they emerge in humans through spillover events, ideally before human-to-human transmission occurs.

Design: In this study, the utility of the QIAstat-Dx syndromic device for influenza surveillance was evaluated. Bioinformatic analysis was performed on all WHO-recommended influenza Candidate Vaccine Viruses (CVVs), including the common strains recommended for the 2023-2024 influenza vaccine composition in the northern hemisphere, and 16 different H5 highly pathogenic avian influenza virus (HPAIV) and two H9N2 low pathogenic avian influenza virus (LPAIV) strains.

Impairment of Intermediate Filament Expression Reveals Impact on Cell Functions Independent from Keratinocyte Transformation.

Although cytoplasmic intermediate filaments (cIFs) are essential for cell physiology, the molecular and cell functional consequences of cIF disturbances are poorly understood. Identifying defaults in cell function-controlled tissue homeostasis and understanding the interrelationship between specific cIFs and distinct cell functions remain key challenges. Using an RNAi-based mechanistic approach, we connected the impairment of cell-inherent cIFs with molecular and cell functional consequences, such as proliferation and differentiation.

Clinical Characteristics, Cytogenetic Risks, and Prognoses of Young Multiple Myeloma Patients in the Era of Novel Therapies.

In recent years, there have been significant advances in the understanding and treatment of multiple myeloma (MM). Despite this progress, there is still limited information on the disease in patients aged 50 or younger, including the impact of young age on disease characteristics, treatment, and outcome. In this retrospective study, we analyzed 68 newly diagnosed MM patients aged ≤ 50 years (y) who had undergone at least one peripheral blood stem cell transplantation (PBSCT).

Interaural level difference sensitivity in neonatally deafened rats fitted with bilateral cochlear implants.

Bilateral cochlear implant (CI) patients exhibit significant limitations in spatial hearing. Their ability to process interaural time differences (ITDs) is often impaired, while their ability to process interaural level differences (ILDs) remains comparatively good. Clinical studies aiming to identify the causes of these limitations are often plagued by confounds and ethical limitations.

A critical role of action-related functional networks in Gilles de la Tourette syndrome.

Gilles de la Tourette Syndrome (GTS) is a chronic tic disorder, characterized by unwanted motor actions and vocalizations. While brain stimulation techniques show promise in reducing tic severity, optimal target networks are not well-defined. Here, we leverage datasets from two independent deep brain stimulation (DBS) cohorts and a cohort of tic-inducing lesions to infer critical networks for treatment and occurrence of tics by mapping stimulation sites and lesions to a functional connectome derived from 1,000 healthy participants.

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists.

Advancing the personalized advantage index (PAI): a systematic review and application in two large multi-site samples in anxiety disorders.

Background: The Personalized Advantage Index (PAI) shows promise as a method for identifying the most effective treatment for individual patients. Previous studies have demonstrated its utility in retrospective evaluations across various settings. In this study, we explored the effect of different methodological choices in predictive modelling underlying the PAI.

Mild cognitive impairment in spontaneous intracranial hypotension and its rapid reversal by repair of a spinal cerebrospinal fluid leak.

Background: Patients with spontaneous intracranial hypotension (SIH) report difficulties in concentration and memory. To objectify these deficits, we implemented standard cognitive tests into our routine SIH workup.

Method: Retrospective, single-center report of cognitive standard tests among patients with SIH consecutively admitted from May to July 2023.

Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseases.

Background: Inherited epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by skin fragility and unique oral features. It requires interdisciplinary care from several health professionals, including oral health teams. Modern dentistry encompasses a wide range of therapeutic options performed by specialists from different fields.

Climbing the longevity pyramid: overview of evidence-driven healthcare prevention strategies for human longevity.

Longevity medicine is an emerging and iterative healthcare discipline focusing on early detection, preventive measures, and personalized approaches that aim to extend healthy lifespan and promote healthy aging. This comprehensive review introduces the innovative concept of the "." This conceptual framework delineates progressive intervention levels, providing a structured approach to understanding the diverse strategies available in longevity medicine.