PDE11A is a phenotype modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: results of a 334 patients' series.

Purpose: Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing's syndrome due to bilateral nodules, is a heterogeneous disease at the clinical, hormonal and morphological levels. ARMC5 inactivating pathogenic variants are causative of PBMAH and rare variants of PDE11A have been associated with PBMAH.

Methods: Leukocyte DNA of 354 PBMAH index cases was sequenced for ARMC5 and PDE11A genes by Next generation sequencing (NGS).

The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.

Background/aims: X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa (RP), accounting for 5-15% of all RP cases and primarily affecting males. However, the real-world humanistic impacts of this disease on patients are poorly investigated, especially with respect to burdens faced by patients with varying disease severities.

Methods: EXPLORE XLRP-2 was an exploratory, multicentre, non-interventional study.

Advanced Imaging Techniques for Assessing Fat, Iron, and Fibrosis in Chronic Liver Disease.

Imaging plays a critical role in the management of chronic liver disease (CLD) because it is a safe and painless method to assess liver health. The widely used imaging techniques include ultrasound, computed tomography and magnetic resonance imaging. These techniques allow the measurement of fat deposition, iron content, and fibrosis, replacing invasive liver biopsies in many cases.

Whole-Genome Sequencing-Based Characterization of Infection Cases at the University Hospital Centre Zagreb.

We investigated the intra-hospital distribution of strains by whole-genome sequencing (WGS) of isolates collected in 2022 at the University Hospital Centre (UHC) Zagreb. In total, 103 patients with first-episode CDI in 2022 at UHC Zagreb were included, based on the screening stool antigen test for GDH (RidaQuick CD GDH; R-Biopharm AG, Germany), confirmed by Eazyplex assays (Eazyplex CD assay; AmplexDiagnostics GmbH, Germany) specific for A, B, and binary toxins. Demographic and clinical data were retrospectively analyzed from electronic medical records.

CD44 Immunohistochemical Expression in Central and Peripheral Parts of Prostatic Adenocarcinoma: An Institutional Study.

: Prostate cancer is one of the most commonly diagnosed cancers in the male population and the fifth leading cause of cancer death worldwide in men as of 2022. One of the potential biomarkers that can predict the progression of the disease is the transmembrane adhesion molecule CD44s. The aims of this study were to determine the expression of CD44s in prostate cancer in the central tumor mass and in the tumor periphery of the disease and to compare it with the clinicopathological parameters (PSA, Gleason score, surgical margins, and biochemical recurrence of the disease) in patients treated with radical prostatectomy.

Cathelicidin in Urinary Tract Diseases: Diagnostic, Prognostic and Therapeutic Potential of an Evolutionary Conserved Antimicrobial Protein.

Despite being one of the most common infectious diseases, urinary tract infections (UTIs) still represent a challenge for clinicians to diagnose and treat, especially in the era of growing antibiotic resistance among uropathogenic bacteria. Recent studies investigating the pathophysiology of UTIs have discovered the prominent role of antimicrobial peptides in the urinary tract defense system. Cathelicidin is an evolutionary conserved antimicrobial peptide encoded by one single gene in humans.

Obinutuzumab in Combination with Alternative Chlorambucil Schedules in Front-Line Treatment of Chronic Lymphocytic Leukemia: A Study by KroHem, the Croatian Cooperative Group for Hematologic Diseases.

Obinutuzumab was approved for front-line treatment of chronic lymphocytic leukemia in combination with chlorambucil pulses administered every 2 wks. Alternative schedules of chlorambucil enable the administration of higher total chlorambucil doses, and have better antileukemia activity. So far, evidence on the feasibility of combining obinutuzumab with alternative chlorambucil schedules is lacking.

Neuroblastoma Breakpoint Family 3mer Higher Order Repeats/Olduvai Triplet Pattern in the Complete Genome of Human and Nonhuman Primates and Relation to Cognitive Capacity.

Background/objectives: The ~1.6 kb NBPF repeat units in neuroblastoma breakpoint family (NBPF) genes are specific to humans and are associated with cognitive capacity in higher primates. While the number of NBPF monomers/Olduvai sequences in humans is approximately 2-3 times greater than in great apes, the difference in copy number values of canonical NBPF 3mer Higher-order repeats (HORs)/Olduvai triplets between humans and great apes is substantially larger.

The Role of Behavioral Factors on Chronic Diseases-Practice and Knowledge Gaps.

Behavioral factors, such as smoking, alcohol consumption, stress, poor diet, and physical inactivity, but also sleep deprivation and negative social connections, play a critical role in the development and progression of major chronic diseases. These include cardiovascular diseases, diabetes, chronic respiratory conditions, and cancers. : The objective of this review is to explore the influence of these modifiable risk factors on the global burden of chronic diseases and assess the potential impact of public health interventions and policy changes.

Lower basophil count after anti-thymocyte globulin induction is associated with lower incidence of acute cellular rejection in heart transplant recipients.

Introduction: While lymphodepletion is considered a therapeutic effect of rabbit anti-thymocyte globulin (rATG), a concomitant decrease in basophil count (BC) has unknown clinical effect.

Objective: To investigate the association between BC following rATG induction and acute cellular rejection (ACR) during the first post-HTx year.

Methods: Retrospective single-center study included 183 HTx recipients receiving rATG induction between 2010 and 2021 (mean age 52 ± 13 years, 23 % female).

Key elements for designing effective second victim support interventions: a focus group study in European clinical settings.

Background: The second victim (SV) experience limits the performance of health and care workers and places patients at risk. Peer support is recognised as the most effective, feasible and acceptable intervention to mitigate its impact.

Objective: To define a set of success factors when designing interventions to support SVs in health and care facilities based on expertise in different European countries.

Achievements, priorities and strategies in pediatric nephrology in Europe: need for unifying approaches or acceptance of differences?

Background: There is a lack of information on the current healthcare systems for children with kidney diseases across Europe. The aim of this study was to explore the different national approaches to the organization and delivery of pediatric nephrology services within Europe.

Methods: In 2020, the European society for Paediatric Nephrology (ESPN) conducted a cross-sectional survey to identify the existing pediatric nephrology healthcare systems in 48 European countries covering a population of more than 200 million children.

Morphological characterization of retinal development from birth to adulthood via retinal thickness assessment in mice: a systematic review.

The morphology and thickness of the retinal layers are valuable biomarkers for retinal health and development. The retinal layers in mice are similar to those in humans; thus, a mouse is appropriate for studying the retina. The objectives of this systematic review were: (1) to describe normal retinal morphology quantitatively using retinal layer thickness measured from birth to age 6 months in healthy mice; and (2) to describe morphological changes in physiological retinal development over time using the longitudinal (in vivo) and cross-sectional (ex vivo) data from the included studies.

Anakinra as a first-line therapy for systemic juvenile idiopathic arthritis when nonsteroidal anti-inflammatory drug treatment fails: A single-center French retrospective study.

Introduction: Anakinra has dramatically improved the management of systemic juvenile idiopathic arthritis (SJIA) over the last decade. Nevertheless, management remains inconsistent; corticosteroids are still frequently used. We analyzed the course of SJIA in children treated with anakinra according to the time of treatment initiation after disease onset.

Experts' discussion: implications of the World Health Organization's World report on hearing for the cochlear implant field.

Objective: This review aims to analyse the implications of the World Health Organization's 2021 world report on hearing, with a particular focus on the cochlear implant field. The objective is to understand the challenges and opportunities highlighted in the report and propose viable solutions for effective implementation within the cochlear implant community.

Methods: Following the release of the World Health Organization's world report on hearing, cochlear implant professionals explored and discussed the implications of the report with examples from various countries to understand the disparities in access, reimbursement policies, and social stigma associated with hearing loss.

Profile and Usefulness of Serum Cytokines to Predict Prognosis in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.

Objectives: To characterize the serum cytokine profile in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) at onset and during follow-up and assess their utility for predicting relapses and disability.

Methods: This retrospective multicentric cohort study included patients aged 16 years and older meeting MOGAD 2023 criteria, with serum samples collected at baseline (≤3 months from disease onset) and follow-up (≥6 months from the baseline), and age-matched and time to sampling-matched patients with multiple sclerosis (MS). Eleven cytokines were assessed using the ELLA system.

Predictive factors for severe epistaxis in a tertiary center of Tunisia.

Introduction: Epistaxis is a prevalent clinical condition that can be associated with significant morbidity and places a considerable burden on the healthcare system.

Aim: To ascertain the prevalence of epistaxis in our center and to identify the predictive factors of severity.

Methods: This is a retrospective cross-sectional analytical study of patients who presented to and/or were admitted for epistaxis at our department of Ear, Nose and Throat (ENT) during the period from January 2015 to December 2022.

Influence of subclinical hypothyroidism and brain-derived neurotropic factor on telomere length dynamics in type 1 diabetic pregnancies and their newborns.

Thyroid dysfunctions are common in type 1 diabetes mellitus (T1DM) pregnancies, impacting embryogenesis and fetal neurodevelopment. This study investigates the effects of subclinical hypothyroidism and BDNF (Brain-derived neurotrophic factor) telomere length in T1DM mothers and their newborns. In a recent study, researchers found an inverse relationship between TSH (thyroid-stimulating hormone) levels and telomere length in the cord blood of newborns.

Ensuring the Safety of Locally Sourced Alcohols for Hand Sanitizer Production During the SARS-CoV-2 Crisis: A Comprehensive Impurity Analysis.

Amid the early 2020 SARS-CoV-2 crisis, severe hand sanitizer shortages led to OMS local production recommendations, inviting a diverse array of alcohol producers to contribute. However, not all followed mandatory controls for API-grade alcohol. We conducted a study to ensure the safety of the received alcohols, focusing on methanol and acetaldehyde levels.

Long-term effects of antipsychotics on serum BDNF levels in patients with schizophrenia.

Brain-derived neurotrophic factor (BDNF) is implicated in the etiology of schizophrenia, and peripheral BDNF levels are affected by the short-term antipsychotic treatment. However, the data on their long-term effects on BDNF levels are scarce, and there is no information whether BDNF levels change during sustained remission in relation to values in healthy individuals. The aim of the present study was to compare serum BDNF levels in patients in long-term remission and healthy controls.

Adoption of Digital Therapeutics in Europe.

Digital therapeutics (DTx) are an emerging medical therapy comprising evidence-based interventions that are regulatory approved for patient use, or are under development, for a variety of medical conditions, including hypertension, cancer, substance use disorders and mental disorders. DTx have significant potential to reduce the overall burden on healthcare systems and offer potential economic benefits. There is currently no specific legal regulation on DTx in the EU.