Primary Antibody Deficiencies: Curation Of Gene-Disease Relationships Using A ClinGen Validation Framework.

Background: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted.

Assessment of Outcomes & Anatomical Changes in the Upper Urinary Tract following Flexible Ureteroscopy with a Flexible and Navigable Suction Ureteral Access Sheath (FANS): 3-Month Results from a Multicenter Study.

Objectives: To study the long-term outcomes of the flexible and navigable suction ureteral access sheath (FANS) in flexible ureteroscopy (FURS). FANS has well-established efficiency and 30-day perioperative safety; however, its influence on pelvicalyceal and ureteric anatomy remains to be investigated.

Methods: This was a prospective study of patients with normal renal anatomy who underwent FURS with FANS for renal stones from April 2023 to August 2024 in 16 centers worldwide.

Overview of three decades of Management Patterns of Renal Angiomyolipomas.

Objective: To analyze clinical and radiological features and trends in the management pattern of renal angiomyolipomas (AML) in a tertiary care center over a 30-year period.

Patients And Methods: We retrospectively reviewed the charts of patients referred to our institutions from 1992 to 2022 with final diagnosis of AML. Demographics, clinical presentation, radiological findings, renal function status, and treatment options were recorded.

Individualized transfusion decisions to minimize adverse cardiovascular outcomes in patients with acute myocardial infarction and anemia.

Background: Risk-benefit tradeoffs between restrictive versus liberal red blood cell transfusion strategies may vary across individuals. This exploratory analysis aimed to derive and evaluate individualized treatment effects of defined transfusion strategies in patients with acute MI and anemia with the goal of minimizing adverse cardiovascular outcomes.

Methods: This study analyzed 3,447 (98.

Incomplete reporting of adverse events in duloxetine trials: a meta-research survey of randomized controlled trials versus placebo.

Objective: Relying on published data alone might be insufficient for meta-analyses to be reliable and trustworthy since selective outcome reporting is common, especially for adverse events. We investigated the existence of selective reporting and its potential for bias in a case study exploring adverse events of duloxetine in adults.

Study Design And Setting: We systematically searched all previous meta-analyses/pooled analyses on duloxetine published on PubMed for 7 indications approved by the American and European health authorities.

Histological pattern of non-infectious thoracic aortitis impacts mortality.

Background: Non-infectious aortitis encompasses various histological patterns, but their specific cardiovascular outcomes remain unclear.

Objective: To evaluate the mortality associated with non-infectious surgical thoracic aortitis.

Methods: This retrospective multicenter study included patients who underwent thoracic aortic surgery and had histological evidence of aortitis.

Opening the gate: Complexity and modularity of the nuclear pore scaffold and basket.

Nuclear pore complexes (NPCs) are giant molecular assemblies that form the gateway between the nucleus and the cytoplasm and accommodate the bidirectional transport of a large variety of cargoes. Recent years have seen tremendous advances in our understanding of their building principles and have in particular called attention to the flexibility and variability of NPC composition and structure. Here, we review these recent advances and discuss how the newest technologies push the boundaries of nuclear pore research forward, with a specific highlight on the NPC scaffold and a prominent pore appendage, the nuclear basket, whose architecture has long been elusive.

Machine learning-based models for prediction of innovative medicine reimbursement decisions in Scotland.

Objective: This study aimed to investigate the critical factors for reimbursement decisions of innovative medicines in Scotland and to explore the feasibility of machine learning models for predicting decisions.

Method: All appraisals for innovative medicines issued by the Scottish Medicines Consortium (SMC) from 2016 to 2020 were screened to extract decision outcomes and 24 explanatory factors. SelectKBest with chi-square test was used for factor selection.

Neonatal mortality in 2001-2017 in France: A cause-specific and spatiotemporal analysis.

Background: In France, the infant mortality rate had a long period of decline, but it stopped decreasing after 2010 and then rose. Neonatal mortality is a large part of infant mortality. The aim of this study was thus to describe its main changes, by cause of death and gestational age, and the main changes in socio-spatial distribution, from 2001 to 2017.

Incidence, severity and treatment outcome of tuberculosis in the era of the COVID-19 pandemic, France, 2018-2023.

Introduction: In France, the average steady decline in tuberculosis (TB) incidence close to 5 % per year over the past half-century has been occasionally interrupted by disruptions related to external events. We describe the impact of the COVID-19 pandemic on TB incidence, severity and treatment outcome.

Methods: We analysed the number of TB cases and treatment outcomes reported through the mandatory notification system through 2018-2023.

Contribution of neuroimaging to the understanding of social cognition in epilepsy.

This narrative review aims to identify and summarize existing research to better understand the pathophysiological and neuroanatomical bases of social cognition deficits in people with epilepsy. The neuroanatomical basis of social cognition was primarily examined in healthy subjects. In healthy individuals, social cognition is supported by a complex network of interconnected brain regions.

State-of-the-Art Liver Cancer Organoids: Modeling Cancer Stem Cell Heterogeneity for Personalized Treatment.

Liver cancer poses a global health challenge with limited therapeutic options. Notably, the limited success of current therapies in patients with primary liver cancers (PLCs) may be attributed to the high heterogeneity of both hepatocellular carcinoma (HCCs) and intrahepatic cholangiocarcinoma (iCCAs). This heterogeneity evolves over time as tumor-initiating stem cells, or cancer stem cells (CSCs), undergo (epi)genetic alterations or encounter microenvironmental changes within the tumor microenvironment.

Decision support guided fluid challenges and stroke volume response during high-risk surgery: a post hoc analysis of a randomized controlled trial.

Intravenous fluid is administered during high-risk surgery to optimize stroke volume (SV). To assess ongoing need for fluids, the hemodynamic response to a fluid bolus is evaluated using a fluid challenge technique. The Acumen Assisted Fluid Management (AFM) system is a decision support tool designed to ease the application of fluid challenges and thus improve fluid administration during high-risk surgery.

Inter-Rater Disagreements in Applying the Montreal Classification for Crohn's Disease: The Five-Nations Survey Study.

Background: The Montreal classification has been widely used in Crohn's disease since 2005 to categorize patients by the age of onset (A), disease location (L), behavior (B), and upper gastrointestinal tract and perianal involvement. With evolving management paradigms in Crohn's disease, we aimed to assess the performance of gastroenterologists in applying the Montreal classification.

Methods: An online survey was conducted among participants at an international educational conference on inflammatory bowel diseases.

Systematic Review on definitions of Intestinal Ultrasound Treatment Response and Remission in Inflammatory Bowel Disease.

Background: Intestinal ultrasound (IUS) is emerging as a valuable tool to assess treatment response in inflammatory bowel disease (IBD) clinical trials. This study details how IUS defines response and remission to evaluate treatment efficacy in IBD patients.

Methods: We conducted a comprehensive search of studies from 1984 to 31 March 2024, focusing on IUS use in assessing treatment efficacy in IBD.

New onset refractory status epilepticus: Long-term outcomes beyond seizures.

We propose and prioritize important outcome domains that should be considered for future research investigating long-term outcomes (LTO) after new onset refractory status epilepticus (NORSE). The study was led by the international NORSE Institute LTO Working Group. First, literature describing the LTO of NORSE survivors was identified using a PubMed search and summarized to identify knowledge gaps.

Body mass index trajectories from birth to adolescence and associated factors in the PARIS cohort.

Aim: Development of body mass index (BMI) trajectories is essential for understanding childhood overweight, a public health concern. This study aimed to identify BMI trajectories from birth to adolescence and examine associated factors in the Pollution and Asthma Risk: an Infant Study (PARIS) birth cohort.

Methods: Data on height, weight, birth parameters, lifestyle, parental weight status and stress were collected via questionnaires and health check-ups.

Management Measures and Trends of Biological Invasions in Europe: A Survey-Based Assessment of Local Managers.

Biological invasions are a major threat to biodiversity, ecosystem functioning and nature's contributions to people worldwide. However, the effectiveness of invasive alien species (IAS) management measures and the progress toward achieving biodiversity targets remain uncertain due to limited and nonuniform data availability. Management success is usually assessed at a local level and documented in technical reports, often written in languages other than English, which makes such data notoriously difficult to collect at large geographic scales.

Muscle Loss During First-Line Chemotherapy Impairs Survival in Advanced Pancreatic Cancer Despite Adapted Physical Activity.

Background: Advanced pancreatic ductal adenocarcinoma (aPDAC) is often accompanied by significant muscle mass loss, contributing to poor prognosis. SarcAPACaP, an ancillary study of the GERCOR-APACaP phase III trial, evaluated the role of adapted physical activity (APA) in aPDAC Western patients receiving first-line chemotherapy. The study aimed to assess (1) the potential impact of computed tomography (CT)-quantified muscle mass before and during treatments on health-related quality of life (HRQoL) and overall survival (OS) and (2) the role of APA in mitigating muscle mass loss.

Two TAL Effectors of Xanthomonas citri pv. malvacearum Induce Water Soaking by Activating GhSWEET14 Genes in Cotton.

Bacterial blight of cotton (BBC) caused by Xanthomonas citri pv. malvacearum (Xcm) is an important and destructive disease affecting cotton plants. Transcription activator-like effectors (TALEs) released by the pathogen regulate cotton resistance to the susceptibility.