The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.

Phenylphosphonic acid corroles: corroles that link and bind.

We report herein the synthesis and full spectroscopic characterization of two AB-corrole phosphonic acids. Thanks to the presence of a phosphonic acid functional group at the 10--position, the corroles were covalently linked to the hexanuclear Zr clusters of a PCN-222 metal-organic framework (MOF). After the insertion of cobalt into the corrole macrocycle, the metal complexes are able to bind small volatile molecules such as carbon monoxide (CO).

Combining Individual-Based Radio-Tracking With Whole-Genome Sequencing Data Reveals Candidate for Genetic Basis of Partial Migration in a Songbird.

Partial migration is a phenomenon where migratory and resident individuals of the same species co-exist within a population, and has been linked to both intrinsic (e.g., genetic) as well as environmental factors.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

Nanostructured lipid carriers based mRNA vaccine leads to a T cell-inflamed tumour microenvironment favourable for improving PD-1/PD-L1 blocking therapy and long-term immunity in a cold tumour model.

Background: mRNA-based cancer vaccines show promise in triggering antitumour immune responses. To combine them with existing immunotherapies, the intratumoral immune microenvironment needs to be deeply characterised. Here, we test nanostructured lipid carriers (NLCs), the so-called Lipidots®, for delivering unmodified mRNA encoding Ovalbumin (OVA) antigen to elicit specific antitumour responses.

Transfer of motor and strategy learning in children with Developmental Coordination Disorder (DCD): A scoping review.

Developmental coordination disorder (DCD) is a developmental disorder that affects the learning and execution of motor skills. Little is known about their ability to transfer their learning, i.e.

Harmonized Datasets of microbiological parameters from a French national-scale soil monitoring survey.

Microbiological datasets and associated environmental parameters from the French soil quality monitoring network (RMQS) offer an opportunity for long-term and large-scale soil quality monitoring. Soils supply important ecosystem services e.g.

Long-term effect of repeated application of pig slurry digestate on microbial communities in arable soils.

Anaerobic digestion represents an opportunity for converting organic waste (OW) into valuable products: renewable energy (biogas) and a fertilizer (digestate). However, the long-term effects of digestates on soil biota, especially microorganisms, need to be better documented to understand the impact of digestate on soil ecosystem functioning and resilience. This study assessed the cumulative effect of repeated pig slurry digestate applications on soil microbial communities over a decade, using an in-situ approach to compare digested feedstock with undigested feedstock and other fertilization treatments.

Hypereosinophilia and Hypereosinophilic Syndromes: First Findings From a Nationwide Multicenter Cohort.

Background: Hypereosinophilic syndromes (HES) are a heterogenous group of eosinophilic disorders. To date, only retrospective studies of limited sample-size and/or follow-up duration are available.

Methods: The COHESion study is a national prospective multicenter multidisciplinary cohort recruiting both adults or children with the spectrum of eosinophilic disorders (including reactive HE/HES [HE/HES-R], idiopathic HES [HES-I], lymphocytic HES [HES-L], neoplastic HE/HES [HE/HES-N], HE of unknown significance [HE-US], as well as IgG4-related disease [IgG4RD] or ANCA-negative eosinophilic granulomatosis with polyangiitis [EGPA] overlaps).

Backbone extraction through statistical edge filtering: A comparative study.

The backbone extraction process is pivotal in expediting analysis and enhancing visualization in network applications. This study systematically compares seven influential statistical hypothesis-testing backbone edge filtering methods (Disparity Filter (DF), Polya Urn Filter (PF), Marginal Likelihood Filter (MLF), Noise Corrected (NC), Enhanced Configuration Model Filter (ECM), Global Statistical Significance Filter (GloSS), and Locally Adaptive Network Sparsification Filter (LANS)) across diverse networks. A similarity analysis reveals that backbones extracted with the ECM and DF filters exhibit minimal overlap with backbones derived from their alternatives.

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

COMPOSIT study: evaluating osimertinib combination with targeted therapies in EGFR-mutated non-small cell lung cancer.

Introduction: The emergence of diverse resistance mechanisms after osimertinib therapy, including on-target epidermal growth factor receptor (EGFR) mutations and off-target alterations, warrants investigation of novel therapeutics to overcome these challenges and improve patient outcomes.

Methods: COMPOSIT was a French, retrospective, multicenter, cohort study of the effectiveness and tolerability of osimertinib in combination with other targeted therapies in patients with advanced EGFR-mutant (EGFRm) non-small cell lung cancer (NSCLC) who harbored other oncogenic drivers as primary or acquired resistance mechanisms. Real-world progression-free survival (rwPFS), overall survival (OS), and objective response rate (ORR) were the primary endpoints.

Direct and indirect effects of pesticide exposure on the gut microbiota of a farmland raptor.

Recent studies in humans have shown that certain pesticides could affect the composition and functions of the gut microbiota, an essential modulator of vertebrate physiology, leading to potential dysbiosis. However, this relationship remains largely unknown in wild birds despite the implications of pesticides in the current decline of farmland species. The present study sought to fill this gap by providing data on the association between pesticide concentrations in blood and gut microbiota characteristics in relation to individual traits in a farmland raptor, the Montagu's harrier (Circus pygargus).

Crystalline silica on the lung-environment interface: Impact on immunity, epithelial cells, and therapeutic perspectives for autoimmunity.

Crystalline silica (the most abundant form of silicon dioxide) is a natural element that is ubiquitous in the Earth's crust. Chronic personal or professional exposure has been implicated in various pathologies, including silicosis and autoimmune diseases since the early 20th century. More recently, a specific pathogenic role for crystalline silica has been identified through its impact on lung epithelial cells as well as immune cells present at this organism barrier.

Evaluation of efficacy and safety of rituximab in patients with progressive interstitial lung disease (ILD) with inflammatory component (EvER-ILD2): A multicentre double-blind placebo-controlled randomized trial.

Introduction: Progressive interstitial lung diseases (ILDs) are rare but severe diseases, with high mortality and morbidity, with no effective pharmacological treatment allowing for long-term remission, and therefore no clear therapeutic recommendations. Several ILDs present inflammatory components (ILDic), which may justify the use of anti-inflammatory and immunosuppressive drugs, as first-step therapy. Except for systemic sclerosis (SSc)-ILD and sarcoidosis, the evidence in favor of this approach is very weak.

Real-world multicentre study of cefiderocol treatment of immunocompromised patients with infections caused by multidrug-resistant Gram-negative bacteria: CEFI-ID.

Introduction: The increase in the population of immunocompromised patients due to advances in management of end-stage diseases and transplants poses challenges in treating infections caused by multi-drug resistant (MDR) pathogens. Cefiderocol (FDC), a siderophore cephalosporin, has shown efficacy against carbapenem-resistant Gram-negative bacteria.

Methods: This retrospective multicentre study investigated the real-world use of FDC in 114 immunocompromised adults treated for MDR infections in 12 French hospitals (June 2020-November 2023).

Induction triplet chemotherapy in patients with rectal adenocarcinoma and synchronous metastases, an AGEO-FFCD study.

Aim Of The Study: The management of synchronous metastatic rectal cancer (SMRC) is complex and multimodal, involving chemotherapy, surgery and/or radiotherapy. The aim of this study was firstly to confirm the efficacy of the induction FOLFIRINOX, and secondly to evaluate the different therapeutic strategies and outcomes of patients.

Patients And Methods: This French study combined data from a prospective FFCD trial and a multicenter cohort.

Melamine regulatory assessment for endocrine disruption.

Melamine has several domestic and industrial uses as a flame retardant or in the manufacture of melamine-formaldehyde resins. Based on available scientific literature data, the French Agency for Food, Environmental and Occupational Health & Safety (ANSES) included this substance in the list of "chemicals that may present endocrine disruptor (ED) properties", and the substance was prioritized to assess whether it should be classified as an ED in European Union (EU) regulations for hazard identification. This review reports the assessment of melamine based on relevant studies from the registration dossier under REACH, and peer-reviewed literature.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.

Background And Objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group of AwET-PKU 2) the influence of plasma phenylalanine (Phe).

Methods: Participants: 187 AwET-PKU (classic PKU [cPKU] 81%, mild PKU [mPKU] 14%, and mild persistent hyperphenylalaninemia [MPH] 5%).

What do medical students, residents and graduated physicians think about occupational physicians? A cross-national survey on stereotypes.

Introduction: French medical students can access occupational medicine after passing the residency examination. Few studies have looked at the lack of attractiveness of occupational medicine, contributing to the demographic decline of occupational physicians (OPs). The purpose of this study was to explore the stereotypes of OPs by their colleagues at different levels of formation to understand the determinants of the current lack of attractiveness.

Protocol for cellular RNA G-quadruplex profiling using G4RP.v2.

The isolation of G-quadruplexes (G4s) from human cells using specific molecular tools constitutes an invaluable step forward in uncovering the biology of these higher-order DNA and RNA structures. Here, we present an improved version of the G4-RNA precipitation (G4RP) protocol developed to identify RNA G4s from human cancer cells. We describe steps for cell treatment and lysis, chemoprecipitation of G4s using TASQ tools, go/no-go steps, and quantitative reverse-transcription PCR (RT-qPCR) quantification and analysis.

Vasodilator drugs and heart-related outcomes in systemic sclerosis: an exploratory analysis.

Background And Aims: Systemic sclerosis (SSc) is an autoimmune connective disease characterised by excessive extracellular matrix deposition and widespread skin and internal organ fibrosis including various cardiac manifestations. Heart involvement is one of the leading causes of death among patients with SSc. In this study, we aimed to assess the effect of various vasodilator treatments.

Hip disability and Osteoarthritis Outcome Score trajectories and prognostic factors for functional decline: A 3-year follow-up study.

Background: Hip osteoarthritis (OA) can cause pain, restricted locomotor activity and functional impairments but it remains difficult to predict functional decline over time.

Objectives: The aims of this study were to identify functional decline trajectories in people with hip OA using the Hip disability and Osteoarthritis Outcome Score (HOOS) domains and to determine radiological and gait predictors of typical trajectories.

Methods: Consecutive people with hip OA with no indication for total hip replacement at baseline were included.

Shaping tomorrow: how the STEP training course pioneered noninvasive brain stimulation training for psychiatry in France.

Over the past three decades, non-invasive brain stimulation (NIBS) techniques have gained worldwide attention and demonstrated therapeutic potential in various medical fields, particularly psychiatry. The emergence of these novel techniques has led to an increased need for robust training programs to provide practitioners, whether clinicians or scientists, with the necessary skills and knowledge. In response, a comprehensive training curriculum for NIBS in psychiatry has been developed in France.