Cesarean delivery: Clinical updates.

This article offers a comprehensive clinical update on best practices for neuraxial and general anesthesia in cesarean delivery, the most frequently performed major surgical procedure globally. Current evidence-based strategies to address common anesthetic challenges, such as maternal hypotension and intraoperative breakthrough pain, are discussed in detail. Practical approaches for optimizing maternal hemodynamic stability, including the use of vasopressors, fluid management and maternal positioning, are reviewed.

Evaluation of rheumatoid arthritis-associated interstitial lung disease in patients treated with JAK inhibitors: a MAJIK-SFR cohort study.

Objective: To examine the course of interstitial lung disease associated with rheumatoid arthritis (RA-ILD) in France on treatment with Janus kinase inhibitors (JAKis) using the MAJIK-SFR registry.

Methods: Prospective national multicentre observational study identifying patients with RA-ILD from the MAJIK-SFR registry. Pulmonary assessment data were collected at JAKi initiation and follow-up visits (6 months, 12 months and a median of 21 months postinclusion), including chest high-resolution CT (HRCT), pulmonary function tests (forced vital capacity (FVC) and diffusing capacity of the lungs for carbon monoxide (DLCO)), acute exacerbations of ILD, respiratory infections and lung cancers.

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).

Tatton-Brown-Rahman syndrome: a new multiple endocrine neoplasia syndrome with intellectual disability?

We describe for the first time the case of a woman presenting with Tatton-Brown-Rahman syndrome (TBRS) and multiple endocrine neoplasia (MEN). She developed primary hyperparathyroidism at age 13, a pituitary cyst at age 14, adrenal tumor at age 21, and metastatic insulinoma at age 34. In addition, she showed intellectual disability, obesity, multiple lipomas, facial dysmorphia, hemihypertrophy and kyphoscoliosis.

Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening.

In France, sickle cell disease newborn screening (SCD NBS) has been targeted to at-risk regions since 1984, but generalization to the whole population will be implemented from November 2024. Although tandem mass spectrometry (MS/MS) is already used for the NBS of several inherited metabolic diseases, its application for SCD NBS has not been widely adopted worldwide. The aim of this study was to evaluate a dedicated MS/MS kit (Targeted MS/MS Hemo, ZenTech, LaCAR Company, Liege, Belgium) for SCD NBS and to compare the results obtained with those from an NBS reference center using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) and cation-exchange high-performance liquid chromatography (CE-HPLC, Variant NBS, Biorad Laboratories, Inc.

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.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

What is the lower limb length discrepancy after arthroplasty for proximal femoral fracture? A prospective, multicenter observational study of 590 hips.

Introduction: Lower limb length discrepancy (LLD) following hip arthroplasty after proximal femoral fracture (PFFA) is little studied. The aim of this work was to answer the following questions: 1) What are the incidence and mean values ​​of LLD after PFFA? 2) What are the clinical consequences (tolerance) of LLD after PFFA? 3) Can we identify risk factors for LLD after PFFA? 4) Is there a significant difference in terms of LLD after PFFA to treat intra- versus extra-capsular fractures?

Hypothesis: LLD after proximal femoral fracture arthroplasty is rare but has good clinical tolerance, given the low functional demands of the patients.

Patients And Methods: This is a multicenter prospective observational cohort study (15 centers), including 590 patients, operated on for hip arthroplasty for proximal femur fracture between May 2022 and June 2023.

Spinal muscular atrophy is also a disorder of spermatogenesis.

Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.

Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.

Safety of Fertility Treatments in Women With Systemic Lupus Erythematosus: Data From a Prospective Population-Based Study.

Objective: To assess safety of fertility treatments in women with systemic lupus erythematosus (SLE).

Design: Data from the multicentre French observational GR2 (Groupe de Recherche sur la Grossesse et les Maladies Rares) study (2014-ongoing).

Setting: Seventy-six centres in France.

Real life data of ONC201 (dordaviprone) in pediatric and adult H3K27-altered recurrent diffuse midline glioma: Results of an international academia-driven compassionate use program.

Introduction: H3K27-altered diffuse midline gliomas (DMG) have limited therapeutic options and a very poor prognosis. Encouraging responses were observed in early clinical trials with ONC201. As ONC201 was unavailable in Europe, a compassionate use program supported by the French Authorities was launched for patients at progression after standard of care radiotherapy.

A novel microRNA promotes coxsackievirus B4 infection of pancreatic β cells.

The epidemiological association of coxsackievirus B infection with type 1 diabetes suggests that therapeutic strategies that reduce viral load could delay or prevent disease onset. Moreover, recent studies suggest that treatment with antiviral agents against coxsackievirus B may help preserve insulin levels in type 1 diabetic patients. In the current study, we performed small RNA-sequencing to show that infection of immortalized trophoblast cells with coxsackievirus caused differential regulation of several miRNAs.

Covered Stent Correction for Sinus Venosus Atrial Septal Defects, an Emerging Alternative to Surgical Repair: Results of an International Registry.

Background: Covered stent correction for a sinus venosus atrial septal defect (SVASD) was first performed in 2009. This innovative approach was initially viewed as experimental and was reserved for highly selected patients with unusual anatomic variants. In 2016, increasing numbers of procedures began to be performed, and in several centers, it is now offered as a standard of care option alongside surgical repair.

Meningitis due to Gemella sp. in a patient with severe ENT conditions: case report and review of the literature.

In June 2022, a 73-year-old man with a history of laryngeal and esophageal carcinoma was admitted to the emergency unit with sudden fever, confusion, and general condition deterioration. Initial assessments showed a fever of 38.5 °C, elevated C-reactive protein (CRP) at 209 mg/L, and a neutrophil count of 10.

Congenital Titinopathies Linked to Mutations in Metatranscript-Only Exons.

Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.

Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.

Background: Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment.

Objectives: We report the results of a panel strategy after 3 years of application.

Health-related quality of life, social and psychological well-being of 109 adult patients with genetic lipodystrophy.

Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.

Patients And Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity.

Switching from dupilumab to tralokinumab or Janus kinase inhibitors in cases of ocular and/or facial adverse events in patients with atopic dermatitis: a multicenter retrospective study.

Background: Patients with atopic dermatitis (AD) may discontinue dupilumab owing to dupilumab-induced ocular adverse events (DOAEs) or dupilumab-induced facial redness (DFR).

Objective: To evaluate DOAE and DFR outcomes after switching to tralokinumab or Janus kinase inhibitor (JAKi).

Methods: This retrospective study included 106 patients discontinuing dupilumab because of DOAEs and/or DFR.

Effect of familiarity and knowledge about epilepsy on associated cultural stereotypes in French society.

People with epilepsy face stigma that impacts numerous aspects of their daily lives. Although the stigma surrounding people with epilepsy has been extensively documented, the mechanisms underlying it-such as cultural stereotypes-remain to be explored. Cultural stereotypes are widely shared beliefs within a cultural context about attributes typically associated with members of a particular group.

Epidemiological and clinicopathological characteristics of vascular-limited renal AL amyloidosis.

Background And Hypothesis: Kidney involvement, along with cardiac disease, is the most frequent manifestation of systemic AL amyloidosis usually resulting in nephrotic-range proteinuria. Rarely, deposits predominantly or exclusively affect the intrarenal arterioles or arteries, these vascular-limited forms following a distinct clinical course, but very little is known about these forms. Our work plan at better characterizing renal vascular limited AL amyloidosis.

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%).