Effect of autoimmune comorbidities on multiple sclerosis course: An observational multicenter study.

Background: The study aims to examine the age and disability levels at diagnosis in people with multiple sclerosis (PwMS), with and without autoimmune comorbidities (AC), and the effect of AC on NEDA-3 status and to characterize AC associated with MS, comparing also therapeutic approaches between MS patients with and without other AC.

Methods: This population-based, multicentric study enrolled patients with relapsing-remitting MS (RRMS) with AC (AC group) or without AC (reference group) from 14 MS centers. Demographical, clinical features, treatment information, MRI activity, EDSS, and no evidence of disease activity (NEDA-3) status were assessed at T36 (enrollment time) and T0 (36 months prior).

CSF synaptic biomarkers and cognitive impairment in multiple sclerosis.

Background: People with multiple sclerosis (PwMS) experience various degrees of cognitive impairment (CI). Synaptic dysfunction may contribute to CI in PwMS but cerebrospinal fluid (CSF) synaptic biomarkers are unexplored in MS.

Objective: To assess the role of CSF synaptosomal-associated protein 25 (SNAP-25), β-synuclein, neurogranin and neurofilament light chain protein (NfL) in patients with early relapsing MS with and without CI.

Risk factors for benign uretero-enteric anastomotic strictures after open radical cystectomy and ileal conduit.

Introduction And Objective: Radical Cystectomy (RC) is one of the most common and complex surgical procedures in urologic surgery, and benign ureteroenteric anastomosis strictures (UAS) are complications described in about 15% of patients undergoing RC with different urinary diversion (UD). The aim of this study is to evaluate and analyze risk factors related to the development of ureteral stenosis after RC.

Materials And Methods: All consecutive patients who underwent RC with ileal conduit from December 2019 to December 2022 were included.

Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report.

Immune dysregulation in Inborn Errors of Immunity (IEI) shows a broad phenotype, including autoimmune disorders, benign lymphoproliferation, and malignancies, driven by an increasing number of implicated genes. Recent findings suggest that childhood cancer survivors (CCSs) may exhibit immunological abnormalities potentially linked to an underlying IEI, along with a well-known increased risk of subsequent malignancies due to prior cancer treatments. We describe a patient with two composite heterozygous pathogenic variants in the interleukin-2-inducible T-cell kinase () gene and a history of multiple tumors, including recurrent Epstein-Barr virus (EBV)-related nodular sclerosis and Hodgkin's lymphoma (NSHL), associated with unresponsive multiple hand warts, immune thrombocytopenia, and an impaired immunological profile (CD4+ lymphocytopenia, memory B-cell deficiency, reduction in regulatory T-cells, and B-cell- and T-cell-activated profiles).

Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Mobile elements (ME) can transpose by copy-and-paste mechanisms. A heterozygous insertion in APOB exon 3 coding sequence was suspected in a patient with hypobetalipoproteinemia (HBL), by gel electrophoresis of the PCR products. An insertion of a 85 bp fragment flanked by a polyA stretch and a target replication site duplication was identified as a ME insertion (MEI) from the AluYa5 subfamily, NM_000384.