Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey).

Background: Myotonia is the main feature of both myotonic dystrophy (DM) and non-dystrophic myotonia (NDM). It is felt as stiffness, pain, fatigue, and weakness. In France, mexiletine, a non-selective voltage-gated sodium channel blocker, is approved for the treatment of myotonia in adults with NDM, and it has a temporary recommendation for use in the symptomatic treatment of DM in adults.

The Role of Multimodality Imaging in Multiple Valvular Heart Diseases. A Clinical Consensus Statement of the European Association of Cardiovascular Imaging (EACVI) of the ESC.

With this document, the European Association of Cardiovascular Imaging (EACVI) provides an Expert Consensus on the role of multi-modality imaging (MMI) in the management of patients with multiple valvular heart disease (MVD). Emphasis is given to the use of MMI to unravel the diagnostic challenges that characterize these patients and to improve risk stratification. Complementing the last European Society of Cardiology and European Association of Cardio-Thoracic Surgery guidelines on valvular heart disease, this Expert Consensus document also outlines how MMI assessment should form an integral part of the multi-disciplinary heart team discussion for patients with MVD to help with complex decision-making regarding the choice and timing of treatment.

Patterns of Treatment and Real-World Outcomes of Patients With Non-small Cell Lung Cancer With EGFR Exon 20 Insertion Mutations Receiving Mobocertinib: The EXTRACT Study.

Background: Real-world data regarding patients with non-small cell lung cancer (NSCLC) with EGFR exon 20 insertion (ex20ins) mutations receiving mobocertinib are limited. This study describes these patients' characteristics and outcomes.

Methods: A chart review was conducted across three countries (Canada, France, and Hong Kong), abstracting data from eligible patients (NCT05207423).

A multivariable prediction model for invasive pulmonary aspergillosis in immunocompromised patients with acute respiratory failure (IPA-GRRR-OH score).

Purpose: Invasive pulmonary aspergillosis (IPA) is a life-threatening opportunistic infection in immunocompromised patients. The diagnosis is often made late, with mortality reaching 90% when mechanical ventilation is needed. We sought to develop and validate a risk prediction model for the diagnosis of IPA.

Cardiogenic shock in patients with active onco-hematological malignancies: A multicenter retrospective study.

Purpose: Onco-hematological (OH) patients face significant cardiovascular risks due to malignancy and drug toxicity. Data are limited on the characteristics and outcomes of OH patients with cardiogenic shock (CS) in intensive care units (ICUs).

Methods: This multicenter retrospective study included 214 OH patients with CS across 22 ICUs (2010-2021).

Clinical significance of stratifying prostate cancer patients through specific circulating genes.

Patient stratification remains a challenge for optimal treatment of prostate cancer (PCa). This clinical heterogeneity implies intra-tumoural heterogeneity, with different prostate epithelial cell subtypes not all targeted by current treatments. We reported that such cell subtypes are traceable in liquid biopsies through representative transcripts.

Formal guidelines from an expert panel: intensive care unit medical staffing, organisation and working hours to improve quality of life at work in France.

Background: Intensive care units (ICU) are characterized by high medical assistance costs and great complexity. Recommendations to determine the needs of medical staff are scarce, generating appreciable variability. The French Intensive Care Society (FICS) and the French National Council of Intensive Care Medicine (CNP MIR, Conseil National Professionel de Médecine Intensive Réanimation) have established a technical committee of experts, the purposes of which were to draft recommendations regarding staffing needs in ICUs and to propose optimal organisation of work hours, a key objective being improved workplace quality of life.

Right Atrial Cardiac Hemangioma: A Multidisciplinary Pathway From Symptoms to Surgery.

We present a case of a 76-year-old man with de novo right heart failure. Echocardiography initially detected a mass near to the posterior area of the right atrium. Despite a comprehensive multimodality imaging assessment, the exact location of the mass remained unclear.

Disease characteristics and outcomes of acute myeloid leukemia in germline deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).

Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, -FPD), caused by monoallelic deleterious germline variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date.

Chapter 10: What parathyroid imaging is required for hyprepratahyroidism?

In over 80% of cases, primary hyperparathyroidism results from hypersecretion of PTH by a single parathyroid adenoma. Multi-glandular involvement, combining adenoma and/or hyperplasia in varying proportions, is also possible, although less frequent. When the diagnosis of hyperparathyroidism is certain and surgery is envisaged, imaging is useful for locating the hyperfunctioning gland or glands.

Evaluation of the predictive value of CSF-restricted oligoclonal bands on residual disability and risk of relapse in adult patients with MOGAD: MOGADOC study.

Background: The clinical course of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is variable. However, robust markers of poor outcome and/or relapse risk are still missing.

Objective: To evaluate the frequency of cerebrospinal fluid-restricted oligoclonal bands (CSF-OCB) in a national cohort of adult MOGAD patients and to assess their prognostic value for the risk of relapse and severity.

Organoids, organs-on-chips, complex in vitro model: Definitions, applications, validation, ethics.

Over the past decade, new in vitro biological models have emerged which can reproduce certain characteristics of human physiology and pathologies. From organoids to organs-on-chips, these new technologies are currently revolutionizing the entire chain of research and development in pharmacology. All stakeholders are thus involved, from academic laboratories to pharmaceutical companies, start-ups, and assessment agencies.

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.

Position statement and guidelines about Endoscopic Sleeve Gastroplasty (ESG) also known as "Endo-sleeve".

IS ESG EFFECTIVE IN THE TREATMENT OF OBESITY AND ASSOCIATEDCOMORBIDITIES?: Endoscopic Sleeve Gastroplasty (ESG) is more effective than lifestyle modifications alone for weight loss and improving obesity-related comorbidities. While it has less effect on weight loss compared to Laparoscopic Sleeve Gastrectomy (LSG) in the short to medium term, it offers similar comorbidities resolution to LSG. IS ESG A SAFE PROCEDURE, AND WHAT ARE ITS RISKS?: The safety profile of ESG is consistently supported in the literature.

Quantifying the potential contribution of drugs to the occurrence of acute kidney injury in patients with chronic kidney disease.

Background: We sought to comprehensively describe drug-related components associated with acute kidney injury (AKI) in patients with chronic kidney disease (CKD), describing the incidence of drug-related AKI, the proportion of preventable AKI, identified the various drugs potentially associated with it, explored the risk factors, and assessed the 1-year incidences of the recurrence of drug-related AKI, kidney failure, and death.

Methods: CKD-REIN is a French national prospective cohort of 3033 nephrology outpatients with a confirmed diagnosis of CKD (eGFR <60 ml/min/1.73 m²).

Clinical and Electrophysiological Characteristics of 23 French Patients With Neurolymphomatosis.

Introduction/aims: Neurolymphomatosis is a hematological condition defined by the direct infiltration of malignant lymphomatous cells into the peripheral nervous system. Since nerve conduction studies may disclose demyelinating features, clinicians may misdiagnose neurolymphomatosis as chronic inflammatory demyelinating polyneuropathy (CIDP). This study aimed to determine whether patients with neurolymphomatosis met the 2021 revised criteria for CIDP.

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).