Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study.

Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.

Objectives: Gain insight into the inheritance mode of CHTD.

Surgical Management of Intracerebral Hemorrhage: New Light on the Horizon?

After 30 years of disappointment, 2 randomized controlled trials investigating the effect of neurosurgical treatment on functional outcome in patients with intracerebral hemorrhage were published in 2024. The ENRICH trial (Early Minimally Invasive Removal of Intracerebral Hemorrhage) studied the efficacy of early minimally invasive hematoma removal in patients with lobar or anterior basal ganglia intracerebral hemorrhage, whereas the SWITCH trial investigated the effect of decompressive craniectomy without hematoma removal in severe deep intracerebral hemorrhage. In this critique article, we will discuss the main findings of these trials, their implications and future perspectives.

The use of physicochemical properties to assess changes in the cuticle structure of crustaceans: Case of the prawn Palaemon serratus and its moult cycle.

The crustacean cuticle is a composite material acting as a shell, but also linked with other physiological functions as respiration, locomotion or reproduction. The present study aimed to characterize for the first time the cuticle properties of the marine prawn Palaemon serratus using thermal (TGA) and chemical (FTIR, ICP-AES) techniques. The use of native lyophilized cutiles also enabled to estimate the complexity of the cuticle structure of P.

Prevalence of anxiety symptoms and associated factors at 2 months postpartum, results from a 2021 French national prospective cohort study.

Background: Postpartum anxiety (PPA) symptoms have harmful effects on child development and mother-infant interactions. Accordingly, in-depth knowledge of associated risk factors is crucial for prevention policies. This study aimed to estimate PPA symptom prevalence at 2 months and to identify associated risk factors in a representative sample of all women who gave birth in France in 2021, and in two subgroups: women with no postpartum depression (PPD) symptoms, and those with no history of mental health care.

Impact of an early educational protocol on the oral language of children born preterm exhibiting phonological fragility: a multicenter randomized clinical trial.

Unlabelled: We conducted a six-center, prospective, randomized, open-label trial to assess whether an early standardized educational protocol provided from 42 to 48 months of age improved the progression of oral language and phonological development in children born preterm. A total of 552 children with phonological fragility were included in this study. The children were randomized to receive the educational protocol (guided arm,  = 87) or not (non-guided arm,  = 78).

Numerical modeling of heterogeneous stimuli-responsive hydrogels.

In this paper, we introduce a computational technique for modeling heterogeneous thermoresponsive hydrogels. The model resolves local fluid-solid interactions in hydrogel pores during the deswelling process. The model is a Lagrangian particle-based technique, which benefits from computational grids that represent polymer beads inside hydrogel scaffolds.

The role of the JunD-RhoH axis in the pathogenesis of hairy cell leukemia and its ability to identify existing therapeutics that could be repurposed to treat relapsed or refractory disease.

Hairy cell leukemia (HCL) is an indolent malignancy of mature B-lymphocytes. While existing front-line therapies achieve excellent initial results, a significant number of patients relapse and become increasingly treatment resistant. A major molecular driver of HCL is aberrant interlocking expression of the transcription factor JunD and the intracellular signaling molecule RhoH.

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Brain health: Pathway to primary prevention of neurodegenerative disorders of environmental origin.

While rising global rates of neurodegenerative disease encourage early diagnosis and therapeutic intervention to block clinical expression (secondary prevention), a more powerful approach is to identify and remove environmental factors that trigger long-latencybrain disease (primary prevention) by acting on a susceptible genotype or acting alone. The latter is illustrated by the post-World War II decline and disappearance of Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex (ALS/PDC), a prototypical often-familial neurodegenerative disease formerly present in very high incidence on the island of Guam. Lessons learned from 75 years of investigation on the etiology of ALS/PDC include: the importance of focusing field research on the disease epicenter and patients with early-onset disease; soliciting exposure history from patients, family, and community to guide multidisciplinary biomedical investigation; recognition that disease phenotype may vary with exposure history, and that familial brain disease may have a primarily environmental origin.

A stable zeolite with atomically ordered and interconnected mesopore channel.

Zeolites are crystalline microporous materials constructed by corner-sharing tetrahedra (SiO and AlO), with many industrial applications as ion exchangers, adsorbents and heterogeneous catalysts. However, the presence of micropores impedes the use of zeolites in areas dealing with bulky substrates. Introducing extrinsic mesopores, that is, intercrystal/intracrystal mesopores, in zeolites is a solution to overcome the diffusion barrier.

Clustering of variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Li-Fraumeni syndrome (LFS) is a heterogeneous predisposition to an individually variable spectrum of cancers caused by pathogenic germline variants. We used a clustering method to assign TP53 missense variants to classes based on their functional activities in experimental assays assessing biological p53 functions. Correlations with LFS phenotypes were analyzed using the public germline mutation database and validated in three LFS clinical cohorts.

Association between education level and access to disease-modifying treatment in patients with multiple sclerosis in France.

Background: We hypothesized that differences in access to disease-modifying treatments (DMTs) could explain the association between socioeconomic status and disability progression in multiple sclerosis (MS).

Objective: This study aimed to analyze the association between education level and DMT use in France.

Methods: All patients from OFSEP network with MS onset over 1996-2014 and aged ⩾ 25 years at onset were included.

Association between education level and disability progression in patients with multiple sclerosis in France.

Background: Studies have reported an association between socioeconomic status and disability progression in multiple sclerosis (MS), but findings using the pre-MS individual socioeconomic status are missing.

Objective: The objective was to investigate the association between education level and disability progression.

Methods: All Observatoire Français de la Sclérose en Plaques (OFSEP) patients with MS clinical onset over 1960-2014, and aged ⩾25 years at MS onset were included.

ERBB2 Comprehensive Profiling and Prognostication in Stage III Colon Cancer: Findings From PETACC8 and IDEA-France Cohorts.

Background & Aims: ERBB2 pathway activation, through amplification or activating mutations, represents a new target for colon cancer (CC) treatment. Molecular methods were compared with the gold standard for assessing ERBB2 status, and the prognostic value of ERBB2 amplification, mutations, and expression was determined using data from 2 phase 3 trials involving nearly 3000 patients with stage III CC.

Methods: In the PETACC8 trial, immunohistochemistry and fluorescence in situ hybridization, DNA, and RNA analysis were performed on 1813, 1719, and 1733 samples, respectively.

Design and Implementation of a Dashboard for Drug Interactions Mediated by Cytochromes Using a Health Care Data Warehouse in a University Hospital Center: Development Study.

Background: The enzymatic system of cytochrome P450 (CYP450) is a group of enzymes involved in the metabolism of drugs present in the liver. Literature records instances of underdosing of drugs due to the concurrent administration of another drug that strongly induces the same cytochrome for which the first drug is a substrate and overdosing due to strong inhibition. IT solutions have been proposed to raise awareness among prescribers to mitigate these interactions.

French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Clinical Use of Mavacamten.

Mavacamten, the first drug in the class of β-cardiac myosin modulator, is used for the treatment of patients with hypertrophic cardiomyopathy. This orally administered drug demonstrates wide interpatient variability in pharmacokinetics parameters, due in part to variant CYP2C19 alleles. Individuals who are CYP2C19 poor metabolizers have increased exposure and are at increased risk of reduced cardiac hypercontractility.

Plasminogen Activator Inhibitor-1 in the Pathophysiology of Late Life Depression.

Introduction: Late life depression (LLD) is characterized by specific clinical features including a high frequency of vascular form and frequent antidepressant treatment resistance. The expression and functions of the serine protease inhibitor, Plasminogen Activator Inhibitor-1 (PAI-1) is known to be altered by aging, vascular damage, insulin levels associated with a sedentary lifestyle, chronic stress leading to hypercortisolemia, and inflammatory changes linked to stress responses. These phenomena would be implicated in LLD like vascular depression.

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).

Safety comparison of single-donor and pooled fecal microbiota transfer product preparation in ulcerative colitis: systematic review and meta-analysis.

Background: Multiple studies have evaluated fecal microbiota transfer (FMT) in patients with ulcerative colitis (UC) using single-donor (SDN) and multidonor (MDN) products. Systematic review and meta-analysis were performed to compare the safety of SDN and MDN products.

Methods: Systematic searches were performed in Web of Science, Scopus, PubMed, and Orbit Intelligence to identify studies that compared FMT products manufactured using SDN or MDN strategies against control treatment in patients with UC.

Stereoselective Ring-Opening Reaction of α-Fluorinated Oxetanes: A Practical and Theoretical Investigation.

The ring-opening reaction of fluorinated oxetanes by halides, including alkylidene oxetanes and spirocyclic oxetanes, was highly stereoselective and directed by the presence of a fluorine atom. This reaction allowed a stereoselective preparation of tetrasubstituted alkenes and substituted pyrrolidines containing all-carbon quaternary centers. Theoretical calculations were performed to shed light on experimentally observed regioselectivity in the opening of oxetane derivatives.