Pan-neurofascin autoimmune nodoparanodopathy: A case report and literature review.

Rationale: Locked-in syndrome (and its variant, completely locked-in state) generally has a high mortality rate in the acute setting; however, when induced by conditions such as acute inflammatory polyradiculoneuropathy, it may well be curable such that an attempt at cure should be systematically sought by clinicians.

Patient Concerns: A 52-year-old man presented with acute tetraparesia and areflexia, initially diagnosed as Guillain-Barré syndrome. Despite appropriate treatment, his condition deteriorated, evolving into a completely locked-in state.

Machine learning can predict surgical indication: new clustering model from a large adult spine deformity database.

Purpose: The choice of the best management for Adult Spine Deformity (ASD) is challenging. Health-related quality of life (HRQoL), comorbidities, symptoms and spine geometry, along with surgical risk and potential residual disability play a role, and a definite algorithm for patient management is lacking. Machine learning allows to analyse complex settings more efficiently than other available statistical tools.

Anakinra as a first-line therapy for systemic juvenile idiopathic arthritis when nonsteroidal anti-inflammatory drug treatment fails: A single-center French retrospective study.

Introduction: Anakinra has dramatically improved the management of systemic juvenile idiopathic arthritis (SJIA) over the last decade. Nevertheless, management remains inconsistent; corticosteroids are still frequently used. We analyzed the course of SJIA in children treated with anakinra according to the time of treatment initiation after disease onset.

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.

Conventional radiography for the assessment of focal bone lesions of the appendicular skeleton: fundamental concepts in the modern imaging era.

Bone lesions of the appendicular skeleton can be caused by primary benign or malignant tumors, metastases, osteomyelitis, or pseudotumors. Conventional radiography plays a crucial role in the initial assessment of osseous lesions and should not be underestimated even in this era of modern complex and advanced imaging technologies. Combined with patient age, clinical symptoms and biology, and lesion features including location, solitary versus multiplicity, density, margin (transitional zone evaluated with Lodwick-Madewell grading score), and, if present, the type of periosteal reaction and matrix mineralization can narrow the differential diagnosis or offer a likely diagnosis.

The Neuroprotective Effect of the X Protein of Orthobornavirus Bornaense Type 1 in Amyotrophic Lateral Sclerosis.

In amyotrophic lateral sclerosis (ALS), early mitochondrial dysfunction may contribute to progressive motor neuron loss. Remarkably, the ectopic expression of the Orthobornavirus bornaense type 1 (BoDV-1) X protein in mitochondria blocks apoptosis and protects neurons from degeneration. Therefore, this study examines the neuroprotective effects of X protein in an ALS mouse model.

Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Knockout Mice.

Adenosine deaminase acting on RNA 1 (ADAR1) is the principal enzyme for the adenosine-to-inosine RNA editing that prevents the aberrant activation of cytosolic nucleic acid sensors by endogenous double stranded RNAs and the activation of interferon-stimulated genes. In mice, the conditional neural crest deletion of reduces the survival of melanocytes and alters the differentiation of Schwann cells that fail to myelinate nerve fibers in the peripheral nervous system. These myelination defects are partially rescued upon the concomitant removal of the Mda5 antiviral dsRNA sensor in vitro, suggesting implication of the Mda5/Mavs pathway and downstream effectors in the genesis of mutant phenotypes.

ORPHEE: A Real-World Study on rIX-FP Prophylaxis Use in Adolescent/Adult Patients With Hemophilia B.

Objectives: To assess the real-world efficacy and safety of recombinant factor IX albumin fusion protein (rIX-FP) in patients with hemophilia B (HB) in France.

Methods: Data on dosing frequency, weekly consumption, and bleeds before-and-after switching to rIX-FP, were collected from December 2021 to February 2024. Annualized (spontaneous) bleeding rates [A(s)BRs] were calculated only in patients on prophylaxis with a follow-up ≥ 6 months.

Therapy and Outcomes of Patients with Relapsed Nonmetastatic Rhabdomyosarcoma: A Report from the French Society of Pediatric Oncology Malignant Mesenchymal Tumor Committee.

Background: The prognosis for patients with relapse of localized rhabdomyosarcoma (RMS) remains poor, with limited evidence for optimal second-line therapy. This study describes the management and outcomes of relapsed RMS patients in France.

Methods: We retrospectively reviewed all nonmetastatic RMS patients enrolled in France in the RMS 2005 study who relapsed between 2006 and 2019 after achieving complete local control, defined as complete remission or stable residue ≥ 6 months after treatment completion.

Tracking myasthenia gravis severity over time: Insights from the French health insurance claims database.

Background And Purpose: Few data are available on the course of myasthenia gravis (MG) regarding disease severity and stability over time in real-world settings. This study used the French National Health Insurance Database (SNDS) to assess markers of disease severity in patients with MG longitudinally.

Methods: All patients with MG-related claims in the SNDS between 2013 and 2020 were identified.

Adult Internal Cerebrospinal Fluid Shunt Overall Survival: A Meta-Analysis of Restricted Mean Survival Times from Reconstructed Kaplan-Meier Data.

Objective: To assess the overall survival (OS) of internal cerebrospinal fluid shunt (ICSFS) in the adult population.

Methods: MEDLINE database was searched from 2000 to 2023 to identify studies reporting on ICSFS OS. Only articles reporting on adult ICSFS OS by a Kaplan-Meier (KM) OS curve were included.

The Microscope and Beyond: Current Trends in the Characterization of Kidney Allograft Rejection From Tissue Samples.

The Banff classification is regularly updated to integrate recent advances in the characterization of kidney allograft rejection, gathering novel diagnostic, prognostic, and theragnostic data into a diagnostic and pathogenesis-based framework. Despite ongoing research on noninvasive biomarkers of kidney rejection, the Banff classification remains, to date, biopsy-centered, primarily relying on a semiquantitative histological scoring system that overall lacks reproducibility and granularity. Besides, the ability of histopathological injuries and transcriptomics analyses from bulk tissue to accurately infer the pathogenesis of rejection is questioned.

A novel AAV9-dual microRNA-vector targeting in the hippocampus as a treatment for mesial temporal lobe epilepsy.

Mesial temporal lobe epilepsy (mTLE) is the most prevalent type of epilepsy in adults. First and subsequent generations of anti-epileptic therapy regimens fail to decrease seizures in a large number of patients suffering from mTLE, leaving surgical ablation of part of the hippocampus as the only therapeutic option to potentially reach seizure freedom. GluK2 has recently been identified as a promising target for the treatment of mTLE using gene therapy.

Dimensional assessment on baseline MRI of soft-tissue sarcomas: longest diameter, sum and product of diameters, and volume-which is the best measurement method to predict patients' outcomes?

Purpose: The longest diameter (LD) is a strong prognostic factor for patients with soft-tissue sarcoma (STS). Other dimensional assessments, such as the sum of diameters (SoD), product of diameters (PoD), and volume (3D-COG - proposed by the Children Oncology Group), can be rapidly performed; however, their prognostic values have never been compared to LD. Our goal was to investigate their performance in improving patients' prognostication for STS of the lower limbs.