ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.

Adenylosuccinate lyase deficiency (ADSLd) is a rare autosomal recessive purine metabolism disorder with several clinical manifestations. While toxic substrate accumulation is a known hallmark, no additional molecular mechanisms have been established. Here, we show that ADSLd is associated with mitochondrial dysfunction, including increased fragmentation, impaired respiration, and reduced ATP production.

Succession-driven potential functional shifts in microbial communities in the tire-plastisphere: Comparison of pristine and scrap tire.

Tire microplastics (TMPs) represent a major contributor to microplastic pollution, posing threats to aquatic ecosystems. As carbon-rich substrates, TMPs influence microbial colonization and ecological functions. This study investigates the impacts of pristine (P-TMPs) and scrap (S-TMPs) TMPs from the same brand on microbial communities within the tire-plastisphere.

Unmasking Myocardial Bridge-Related Ischemia by Quantitative Flow Ratio Functional Evaluation.

Introduction: A myocardial bridge (MB) is a condition where a segment of an epicardial coronary artery passes through the myocardial muscle. While traditionally regarded as benign, MBs have been associated with various cardiovascular conditions. Therefore, assessing their hemodynamic impact is crucial for informed treatment decisions.

Epstein-Barr Virus-associated gastric cancer: a histopathologic study with comprehensive molecular profiling.

A subset of gastric cancers (GCs) is linked to Epstein-Barr virus (EBV) infection. This study aims to characterize the histopathological and molecular features of EBV-associated GCs (EBVaGCs), focusing on predictive biomarkers and genomic and transcriptomic analysis. A total of 35 primary EBVaGCs were considered.

Gastrointestinal involvement in very early and established systemic sclerosis: insights from the SPRING-SIR national Italian registry.

Objectives: To describe the prevalence of gastrointestinal (GI) symptoms in systemic sclerosis (SSc) and Very Early Diagnosis of SSc (VEDOSS), identify clinical and serological features associated with GI involvement, and explore a cranio-caudal pattern of symptom distribution, using data from the Italian SPRING-SIR registry.

Methods: This cross-sectional analysis included patients fulfilling 2013 ACR/EULAR SSc or VEDOSS criteria. GI involvement was defined as symptoms in at least one GI tract segment and categorized as upper and lower.

Technical Aspects of Patch Reconstruction during Open and Robotic Pancreatoduodenectomy with Venous Resection: Preserving Venous Axis and Collaterals without Sacrificing Radicality.

Background: Different techniques for venous resection and reconstruction during pancreatoduodenectomy are available, each with different advantages and drawbacks.

Patients And Methods: In this multimedia article, a detailed description of the surgical technique of venous resection with peritoneal (falciform) patch reconstruction is provided, including examples of extended (> 5 cm) or low (jejunal veins confluence) venous infiltrations, during both open and robotic pancreatoduodenectomy.

Results: Reconstruction with patch is a versatile technique, typically fit for lateral but cranio-caudally prolonged tumor involvements, which unlike segmental resection allows preservation of venous collaterals, where a simple tangential resection would jeopardize oncologic radicality or increase the risk of stenosis.

Cryopreservation of chicken and duck tracheal rings and precision-cut lung slices: A promising tool for the rapid characterization of avian influenza viruses.

Since its emergence in 1996, highly pathogenic avian influenza (HPAI) viruses of the A/Goose/Guangdong/1/96 lineage have diversified into multiple clades, culminating in the 2020-2021 global panzootic caused by H5N1 viruses of the clade 2.3.4.

On the application of neural networks for structured domains to fMRI data.

Functional Magnetic Resonance Imaging (fMRI) provides spatio-temporal maps of brain activity; however, extracting the rich information they contain is challenging. Traditional approaches use only summary statistics, losing details that might be hidden in the complex temporal dynamics. Deep neural networks are emerging as an apt solution in this context, given their ability to handle vast amounts of structured data.

Classification of recurrence patterns in surgically treated non-small cell lung cancer - A systematic review and a call for standardization.

Background: Despite significant advancements in early detection and treatment, cancer recurrence remains a major challenge, affecting 30-55 % of patients within two years following surgery. Tumor recurrence is commonly classified as local, locoregional, regional or distant, yet a unified consensus on these definitions is still lacking.

Materials And Methods: A systematic review of the recent literature (2020-2024) was conducted in accordance with PRISMA guidelines to collect site-specific recurrence definitions.

Methodological Standards for Conducting High-Quality Systematic Reviews.

Systematic reviews are a cornerstone of evidence-based research, providing comprehensive summaries of existing studies to answer specific research questions. This article offers a detailed guide to conducting high-quality systematic reviews in biology, health and social sciences. It outlines key steps, including developing and registering a protocol, designing comprehensive search strategies, and selecting studies through a screening process.

Prognosis and biological characteristics of ER-low metastatic breast cancer: results from a multicenter cohort and the TONIC trial.

Purpose: To assess prognosis of ER-low expression and its dynamics in HER2- metastatic breast cancer (BC) and to compare sensitivity to nivolumab between ER-low and triple-negative (TN) BC.

Experimental Design: Two cohorts were analyzed: a multicenter cohort of 982 patients with HER2- metastatic BC, and one prospective cohort of 110 patients with ER<10%/HER2- metastatic BC enrolled in the TONIC trial (testing nivolumab). Endpoints were: overall survival (OS) and post-relapse survival (PRS) in the retrospective cohort; progression-free survival (PFS), OS, and clinical benefit rate (CBR) in the TONIC trial.

Sensitivity of Pediatric Myelodysplastic Syndromes With Excess of Blasts With UBTF-TD to Venetoclax/Azacitidine.

UBTF-TD has been reported in a significant percentage of childhood MDS-EB and has been associated with inferior survival compared to that of patients with the wild-type gene. We treated three consecutive pediatric patients affected by UBTF-TD MDS-EB with venetoclax and azacitidine (ven/aza) in combination as 28-day cycles on a compassionate use basis three consecutive pediatric patients affected by UBTF-TD MDS-EB as a bridge to allogeneic HSCT. Treatment with ven/aza was well-tolerated, and all patients responded to the ven/aza course, achieving CR with flow-cytometry negativity.

Morpho-physiological and agronomic responses of wheat varieties under artificial shade in agroforestry systems.

Background: Solar radiation is a primary constraint in silvoarable agroforestry, with yield losses near the trees well documented in temperate climates. However, genetic variability for shade tolerance remains largely unexplored. This 2-year field trial investigated the impact of artificial shading - using nets that reduced photosynthetically active radiation (PAR) by moderate (-30%) and severe (-50%) levels relative to full sun - on the morpho-physiology and yield of common wheat.

Yawning-induced alternobaric facial palsy in a healthy young adult: A case report and review of the pathophysiology.

Background: Alternobaric facial palsy (AFP) is a rare peripheral facial nerve palsy resulting from transient neurapraxia when sudden ambient-pressure changes disrupt middle-ear equilibrium. Common precipitants include scuba diving, air travel, and altitude. AFP triggered by routine activities is exceedingly uncommon.

Development and validation of a phase-sensitive bioelectrical equation for estimating skeletal muscle mass using DXA as reference.

Background And Aim: The development of appropriate bioimpedance-based equations for assessing body composition requires high-standard reference methods. Conversion factors have been proposed to derive skeletal muscle mass (SMM) from dual-energy x-ray absorptiometry (DXA) outputs. The objective of this study was to present a predictive equation for estimating SMM starting from bioelectrical impedance analysis (BIA) and using DXA as criterion.

Early prediction of bronchopulmonary dysplasia by urinary metabolomics: a case-control study.

Objective: Bronchopulmonary dysplasia (BPD), the most frequent complication of extreme preterm birth, lacks not only of a comprehensive definition but also of effective treatments and predictive tools. Metabolomics is a valuable tool to unravel the underlying pathogenetic pathways of diseases and identify possible early markers. The objective of this study was to find metabolic signatures of subsequent BPD development, defined and stratified as per Jobe and Bancalari 2001 NHICD Consensus.

A Prelude to Conservation Genomics: First Chromosome-Level Genome Assembly of a Flying Squirrel (Pteromyini: ).

The Siberian flying squirrel () represents the only European Pteromyini species. Thus, it is biogeographically unique due to its specialised anatomy and biology as a volant rodent. As a result of habitat fragmentation and destruction, Siberian flying squirrels experience severe and ongoing population declines throughout most of their distribution.

Connexin hemichannel blockade by abEC1.1 disrupts glioblastoma progression, suppresses invasiveness, and reduces hyperexcitability in preclinical models.

Background: Connexin (Cx) hemichannels (HCs) contribute to glioblastoma (GBM) progression by facilitating intercellular communication and releasing pro-tumorigenic molecules, including ATP and glutamate.

Methods: The efficacy of abEC1.1, a monoclonal antibody that inhibits Cx26, Cx30, and Cx32 HCs, was assessed in vitro by measuring invasion capability, dye and Ca uptake, glutamate and ATP release in patient-derived GBM cultures or organoids.

Practice of oxygenation and respiratory support during fibreoptic bronchoscopy: the OxyFOB study protocol.

Introduction: Flexible bronchoscopy (FB) is widely used for diagnostic and therapeutic procedures in pulmonary medicine. However, FB can cause respiratory and haemodynamic complications, especially in patients with pre-existing lung and/or cardiovascular comorbidities. Despite the range of oxygenation and ventilatory approaches available to prevent these risks, evidence regarding their real-world application and clinical impact is limited.

Early-onset colorectal cancer patients exhibit a distinct molecular fingerprint: insights from a large-scale NGS study of 1209 patients.

Background: Early-onset colorectal cancer (EO-CRC, ≤50 years of age) exhibits unique clinical and biological characteristics when compared with average-onset CRC (AO-CRC), but its overall molecular profile is still not well studied.

Materials And Methods: We retrospectively analysed 1209 patients with metastatic CRC profiled using FoundationOne® CDx, a clinically validated next-generation sequencing assay targeting 324 cancer-related genes. Patients were classified as EO-CRC (n = 298) or AO-CRC (n = 911).

Antibiotic treatment of pediatric infections in primary healthcare setting: evaluation and comparison of 80 national treatment guidelines with the WHO AWaRe book recommendations.

Background: Antibiotic recommendations for pediatric infections in national standard treatment guidelines (STGs) vary widely, particularly for Access and Watch antibiotics. The WHO AWaRe book recommends Access antibiotics as first-line treatment for over 80% of common infections managed in primary healthcare. This study aims to evaluate the agreement between first and second-line antibiotics in national STGs with AWaRe book recommendations and the inclusion of these antibiotics in Essential Medicine Lists (EMLs).

Small cell carcinoma of the ovary, hypercalcemic type: a mini review.

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and highly aggressive ovarian neoplasm, predominantly affecting young women, often in their second or third decade of life. Despite its distinctive clinical and pathological features, diagnosis is frequently delayed due to overlapping characteristics with other small round blue cell tumors. A hallmark of SCCOHT is the biallelic inactivation of the SMARCA4 gene, which leads to loss of BRG1 protein expression and disrupts epigenetic regulation via the SWI/SNF chromatin-remodeling complex.

Correction: Bioelectrical impedance vector analysis in older adults: reference standards from a cross-sectional study.

[This corrects the article DOI: 10.3389/fnut.2025.