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.

Nanopore Sequencing as a Cutting-Edge Technology for Medulloblastoma Classification.

Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis.

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.

Epidemiological analysis of adult-type diffuse lower-grade gliomas and incidence and prevalence estimates of diffuse IDH-mutant gliomas in France.

Background: The recent advent of anti-IDH therapies and changes in the WHO classification of gliomas implies estimating the number of patients who could benefit (or not) from anti-IDH treatment. As published data on the current incidence of different subtypes of IDH-mutant gliomas (based on the latest histomolecular WHO classification) are lacking in many countries. The present analysis aims to review the main factors impacting the incidence of gliomas and lower-grade gliomas and to estimate the incidence and prevalence of IDH-mutant gliomas in France.

Automated Quantitative Susceptibility and Morphometry MR Study: Feasibility and Interrelation Between Clinical Score, Lesion Load, Deep Grey Matter and Normal-Appearing White Matter in Multiple Sclerosis.

Introduction: Lesion load (LL), deep gray matter (DGM) and normal-appearing white matter (NAWM) susceptibility and morphometry may help in monitoring brain changes in multiple sclerosis (MS) patients. We aimed at evaluating the feasibility of a fully automated segmentation and the potential interrelation between these biomarkers and clinical disability.

Methods: Sixty-six patients with brain MRIs and clinical evaluations (Expanded Disability Status Scale [EDSS]) were retrospectively included.

Responders to biologics in severe uncontrolled chronic rhinosinusitis with nasal polyps: a multicentric observational real-life study.

Background: Clinical trials have demonstrated the effectiveness of biologics in treating chronic rhinosinusitis with nasal polyps (CRSwNP). However, real-world evidence regarding patient outcomes and predictors of clinical response remains limited.

Methodology: In this multicentric 18-month follow-up study, 326 adult patients who initiated biologic therapy for severe uncontrolled CRSwNP were included.

MRI management of NMOSD and MOGAD: Proposals from the French Expert Group NOMADMUS.

Background: Currently, there are no available recommendations or guidelines on how to perform MRI monitoring in the management of neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). The issue is to determine a valuable MRI monitoring protocol to be applied in the management of NMOSD and MOGAD, as previously proposed for the monitoring of multiple sclerosis.

Objectives: The objectives of this work are to establish proposals for a standardized and feasible MRI acquisition protocol, and to propose control time points for systematic MRI monitoring in the management of NMOSD and MOGAD.

Prognostic role of extent of resection and adjuvant radiotherapy in de novo anaplastic meningiomas.

Purpose: Grade 3 meningiomas, although rare, are associated with high morbidity and mortality. The respective impacts of extent of surgical resection and adjuvant radiotherapy are still debated. Moreover, anaplastic meningiomas are studied in heterogenous cohort of de novo and progressive anaplastic tumors.

Shapes of direct cortical responses vs. short-range axono-cortical evoked potentials: The effects of direct electrical stimulation applied to the human brain.

Objective: Direct cortical responses (DCR) and axono-cortical evoked potentials (ACEP) are generated by electrically stimulating the cortex either directly or indirectly through white matter pathways, potentially leading to different electrogenic processes. For ACEP, the slow conduction velocity of axons (median ≈ 4 m.s) is anticipated to induce a delay.

Cost-utility of cochlear implantation in single-sided deafness and asymmetric hearing loss: results of a randomized controlled trial.

Objectives: To determine the Incremental Cost-Utility Ratio (ICUR) of cochlear implantation in the treatment of adult patients with single-sided deafness (SSD) and asymmetric hearing loss (AHL).

Methods: This prospective multicenter pragmatic study including a randomized controlled trial (RCT) enrolled 155 subjects with SSD or AHL. Subjects chose a treatment option between: abstention, Contralateral Routing Of the Signal hearing aids, Bone Conduction Device or Cochlear Implant (CI).

TEC-ADHERE: Real-World Persistence and Adherence on Dimethyl Fumarate in Patients with Relapsing-Remitting Multiple Sclerosis in the French OroSEP Patient-Support Program.

Introduction: Treatment persistence and adherence are essential for achieving therapeutic goals in patients with multiple sclerosis (MS). OroSEP is an independent patient-support program (PSP) in France for patients with relapsing-remitting MS (RRMS) receiving oral disease-modifying therapies.

Methods: TEC-ADHERE (NCT04221191; 08/19/2019-09/15/2022) was a prospective, non-interventional, phase 4 study to assess the effect of OroSEP on persistence and adherence to dimethyl fumarate (DMF; Tecfidera™) in patients with RRMS.

Phenotypic and epigenetic heterogeneity in FGFR2-fused glial and glioneuronal tumours.

Aims: FGFR-fused central nervous system (CNS) tumours are rare and are usually within the glioneuronal and neuronal tumours or the paediatric-type diffuse low-grade glioma spectrum. Among this spectrum, FGFR2 fusion has been documented in tumours classified by DNA-methylation profiling as polymorphous low-grade neuroepithelial tumours of the young (PLNTY), a recently described tumour type. However, FGFR2 fusions have also been reported in glioneuronal tumours, highlighting the overlapping diagnostic criteria and challenges.

Reprint of: Scientific statement from the French neurovascular and cardiac societies for improved detection of atrial fibrillation after ischaemic stroke and transient ischaemic attack.

Atrial fibrillation (AF) is the primary cause of ischaemic stroke and transient ischaemic attack (TIA). AF is associated with a high risk of recurrence, which can be reduced using optimal prevention strategies, mainly anticoagulant therapy. The availability of effective prophylaxis justifies the need for a significant, coordinated and thorough transdisciplinary effort to screen for AF associated with stroke.

Functional and oncological outcomes following more than three consecutive surgical resections for multiple relapses of initially grade 2 IDH-mutated gliomas.

Background: Second and third surgeries were demonstrated as safe and efficient in recurrent diffuse low-grade glioma (LGG). Here, the feasibility of more than 3 resections is investigated.

Methods: Patients who underwent 4 or 5 operations for recurrent initially WHO grade 2 IDH-mutated gliomas were consecutively selected.

Woven EndoBridge device apposition and compression using Sim&Size virtual simulation correlate with aneurysm occlusion status: a retrospective cohort study.

Background: Virtual simulation is increasingly used for aneurysm treatment. This study aimed to explore whether mechanical behavior biomarkers of the Woven EndoBridge (WEB) device as computed by Sim&Size simulation software were associated with aneurysmal occlusion status at follow-up.

Methods: Consecutive patients with aneurysms treated with WEB were retrospectively enrolled (January 2014 to December 2021).

Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?

Previous studies have established that rare biallelic SYNJ1 mutations cause autosomal recessive parkinsonism and Parkinson's disease (PD). We analyzed 8165 PD cases, 818 early-onset-PD (EOPD, < 50 years) and 70,363 controls. Burden meta-analysis revealed an association between rare nonsynonymous variants and variants with high Combined Annotation-Dependent Depletion score (> 20) in the Sac1 SYNJ1 domain and PD (Pfdr = 0.