GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.

Pulmonary Hypertension Associated With Trastuzumab-Emtansine: An Analysis of French PH Registry and WHO Pharmacovigilance Database.

Background: Trastuzumab emtansine has been recently suspected to be associated with the development of pulmonary arterial hypertension (PAH).

Research Question: Is there an association between trastuzumab, trastuzumab emtansine, or trastuzumab deruxtecan and the development of PAH?.

Study Design And Methods: Characteristics of incident PAH cases treated with trastuzumab, trastuzumab emtansine, or trastuzumab deruxtecan were analyzed from the French PH Registry, the VIGIAPATH program, concurrently with a pharmacovigilance disproportionality analysis using the World Health Organization pharmacovigilance database using a broad definition of pulmonary hypertension (PH) and a narrow definition of PAH.

Real-life use of the PEXIVAS reduced-dose glucocorticoid regimen in granulomatosis with polyangiitis and microscopic polyangiitis.

Background: The PEXIVAS (Plasma exchange and glucocorticoids in severe antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis) trial showed that a reduced-dose glucocorticoid regimen (redGC) was non-inferior to a standard-dose regimen (standGC) with respect to death or end-stage kidney disease (ESKD) in patients with ANCA-associated vasculitis (AAV). However, the primary endpoint did not include disease progression or relapse, cyclophosphamide was the main induction therapy and rituximab (RTX)-treated patients tended to have a higher risk of death or ESKD with redGC. We aimed to evaluate the real-world use of redGC.

IROND-L: study protocol for a French prospective, quasi-experimental, multicentre trial to examine the impact of a coordinated multidisciplinary approach for women victims of violence.

Background And Objectives: Violence against women (VAW) is widespread and can have serious physical and mental health consequences, including post-traumatic stress disorder (PTSD) and sleep disorders. Victim-survivors often face barriers in accessing specialised care, highlighting the need for a multidisciplinary response, especially in healthcare settings. The Maison des Femmes (MdF) model provides holistic support to women experiencing VAW, including medical, psychological, social and legal support.

Thieno[3,2-]thiophene-based bridged BODIPY dimers: synthesis, electrochemistry, and one- and two-photon photophysical properties.

Four BODIPY dyes (6a-6d) with electron-donating or electron-withdrawing groups at the -position were synthesized by the Sonogashira coupling reaction of 2,5-diethynylthieno[3,2-]thiophene with mono-iodo-BODIPY moieties. All compounds were fully characterized by H NMR and MALDI-TOF MS. Their photophysical and electrochemical properties were studied by UV-visible absorption spectroscopy, steady-state and time-resolved fluorescence spectroscopy, two-photon excitation spectroscopy and cyclic voltammetry.

Examining methodological influences on the rhythmic priming effect: A commentary on Kim, McLaren, and Lee (2024).

The rhythmic priming effect (RPE) refers to improved language performance (typically grammaticality judgements) following regular rhythmic primes compared to various control conditions. This effect has been observed primarily in French, but also in English and Hungarian. However, a recent implementation by Kim, McLaren & Lee (2024), aiming to replicate the RPE in English (Chern, Tillmann, Vaughan & Gordon, 2018), was not successful, inviting a discussion about the conditions under which the RPE could be observed.

Centralized Investigator Review of Radiological and Functional Imaging Reports in Real-World Oncology Studies: The SACHA-France Experience.

SACHA-France (NCT04477681) is a prospective real-world study that collects clinical safety and efficacy data of novel anticancer therapies prescribed off-label or on compassionate use to patients <25 years. From March 2020 until February 2024, 640 patients with solid tumors or lymphomas were included, with 176 (28%) reported objective tumor responses. Centralized medical monitoring of local radiological/functional imaging reports by the SACHA coordinating investigator led to response modification in 45 out of 176 cases (26%), highlighting the relevance of the medical review of study data.

Behind the mask: Attentional focus and coping strategies of elite level fencers.

This study aimed to identify attentional foci and coping strategies of elite fencers during competitive matches, explore the co-occurrences between both, and examine their impact on performance. Twenty-two epeeists (11 males and 11 females) from a national team took part in self-confrontation interviews during two simulated tournaments. Data were analysed using inductive and deductive content analyses.

Exploring the development of past and future episodic memory in adolescents with autism spectrum disorder: A preliminary longitudinal study.

Adolescence is a critical period where individuals build their identity and consolidate how they interact with others. However, for adolescents with autism spectrum disorder (ASD), the development of identity and social bounds is at stake. These challenges with the development of identity and social bonds could be linked to difficulties in autobiographical memory (AM), whether recalling past events (past episodic memory; past EM) or imagining future scenarios (episodic future thinking; EFT).

Fulminant eosinophilic myocarditis and doxycycline administration: a case report.

Background: Eosinophilic myocarditis is a life-threatening condition with a heterogeneous clinical presentation and aetiology. Cases of drug-induced or parasitic myocarditis have been reported but there is scant literature on the involvement of treatments, such as doxycycline, and eosinophil degranulation due to parasitic lysis.

Case Summary: Here, we report the case of a 59-year-old man without a relevant past medical history who developed a skin rash with hepatic cytolysis and mild eosinophilia.

Combination of non-invasive brain stimulation with mindfulness-based interventions for anxiety and depression symptoms: systematic review and meta-analysis of randomized controlled trials.

In this article we aimed synthesize all available evidence regarding the effects of non-invasive brain stimulation (NIBS) techniques combined with mindfulness-based interventions (MBIs) on mental health indicators. We performed a systematic review of randomized controlled trials evaluating NIBS/MBIs combinations in clinical populations and a random effects pairwise meta-analysis of studies evaluating anxiety and depression symptoms. After independent trial selection by two authors based on titles/abstracts, and then on full texts, twelve trials were retrieved.

Weight discrimination ability during an action observation task is dependent on the type of muscle contraction.

Concentric and eccentric contractions show different patterns of neural activity at both peripheral and cortical levels, which are thought to influence the perception of action properties such as the weight of objects moved by others. The aim of this study was to investigate how the type of muscle contraction influences weight estimation during action observation. Forty-eight volunteers completed the Main experiment and the Control experiment.

Glucocorticoids versus glucocorticoids plus cyclophosphamide in eosinophilic granulomatosis with polyangiitis with poor-prognosis factors.

Objectives: Current guidelines suggest treating poor-prognosis eosinophilic granulomatosis with polyangiitis (EGPA) with a combination of glucocorticoids (GCs) plus cyclophosphamide (CYC). However, there is little data to support the need for the addition of CYC. The objective of this study was to compare GCs plus CYC to GCs alone as induction therapy in poor-prognosis EGPA.

Effect of prior neuromuscular electrical stimulation of vastus lateralis on the fatigue induced by a sustained voluntary knee extension in men.

Purpose: The purpose of this study was to investigate the effect of vastus lateralis (VL) selective fatigue induced by neuromuscular electrical stimulation (NMES) on knee extensor electromyographic (EMG) activity during a sustained submaximal isometric contraction.

Methods: Thirteen healthy men (28 ± 5 years) completed two experimental sessions in which either the VL was pre-fatigued for 17 min (NMES session) or no intervention was performed (control session, CTRL). Subsequently, participants were asked to sustain an isometric knee extension at 20 % of maximal voluntary contraction (MVC) torque until task failure.

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.

Ixazomib, pomalidomide and dexamethasone in relapsed or refractory multiple myeloma characterized with high-risk cytogenetics: the IFM 2014-01 study.

Not available.

Hospitalization for SARS-CoV-2 and the risk of self-harm readmission: a French nationwide retrospective cohort study.

Aims: The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on the risk of self-harming behaviours warrants further investigation. Here, we hypothesized that people with a history of hospitalization for self-harm may be particularly at risk of readmission in case of SARS-CoV-2 hospitalization.

Methods: We conducted a retrospective analysis based on the French national hospitalization database.

Complexity data science: A spin-off from digital twins.

Digital twins offer a new and exciting framework that has recently attracted significant interest in fields such as oncology, immunology, and cardiology. The basic idea of a digital twin is to combine simulation and learning to create a virtual model of a physical object. In this paper, we explore how the concept of digital twins can be generalized into a broader, overarching field.

Nodal radiotherapy for prostate adenocarcinoma recurrence: predictive factors for efficacy.

Background: Nodes are the second site for prostate cancer recurrence. Whole-pelvic radiotherapy (WPRT) has shown superiority over nodal stereotactic body radiotherapy (SBRT) in two retrospective cohorts. We aimed to compare both modalities and assess factors associated with treatment outcomes.

Synthesis of Carboxylate-Dialdehyde Cellulose to Use as a Component in Composite Thin Films for an Antibacterial Material in Wound Dressing.

Wound infections can lead to life-threatening infection and death. Antibacterial materials from biopolymers in the form of films are a promising strategy for wound dressings. Carboxylate-dialdehyde cellulose (CDAC) is a proper candidate for use as an antibacterial material due to its biocompatibility, nontoxicity, and antibacterial property.