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Identification of Children's Tuberous Sclerosis Complex with Multiple-contrast MRI and 3D Convolutional Network.

Identifying rare tuberous sclerosis complex (TSC) children is valuable and crucial. Magnetic resonance imaging (MRI) is used for rare TSC diagnoses. In this work, T2w and FLAIR were combined as a new modality named FLAIR3 to maximize the contrast between TSC lesions and normal-appearing brain tissues. After that, for the first time, we propose to use two different 3D CNN combined with late fusion strategies to diagnose TSC. A total of 520 children were enrolled in the study, including 260 health and 260 TSC children. The experiments had shown that the FLAIR3 could effectively improve the consp

Occurrence of malignant diseases in patients with multiple sclerosis: population-based MS Registry data.

INTRODUCTION: Among different comorbidities occurring in multiple sclerosis (MS), the presence of malignant diseases in these patients is of the particular importance. The aim of this study was to determine the malignant diseases burden in a whole cohort of patients with MS in the Belgrade region, based on the Belgrade population registry data. MATERIAL AND METHODS: This study comprises 2725 MS patients from the MS Registry, which represents a source for all necessary demographic and clinical data. Firstly, the Registry was searched for all persons with MS who had cancer comorbidity, during t…

Juvenile Idiopathic Arthritis, Uveitis and Multiple Sclerosis: Description of Two Patients and Literature Review.

Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood, while multiple sclerosis (MS) is a demyelinating disease of the central nervous system, characterized by remission and exacerbation phases. An association between MS and rheumatologic diseases, in particular rheumatoid arthritis, has been described and numerous studies acknowledge anti-TNF-α drugs as MS triggers. Conversely, the association between MS and JIA has been reported merely in five cases in the literature. We describe two cases of adult patients with longstanding JIA and JIA-associated uveitis, who…

Ceramide kinase knockout ameliorates multiple sclerosis-like behaviors and demyelination in cuprizone-treated mice.

Changes in sphingolipid metabolism regulate and/or alter many cellular functions in the brain. Ceramide, a central molecule of sphingolipid metabolism, is phosphorylated to ceramide-1-phosphate (C1P) by ceramide kinase (CerK). CerK and C1P were reported to regulate many cellular responses, but their roles in immune-related diseases in vivo have not been well elucidated. Thus, we investigated the effects of CerK knockout on the onset/progression of multiple sclerosis (MS), which is a chronic neurodegenerative disease accompanied by the loss of myelin sheaths in the brain. MS-model mice were pre…

XCL1, a serum biomarker in neurological diseases; HTLV-1-associated myelopathy and multiple sclerosis.

The XCL1-XCR1 axis has a potential role in the recruitment of immune cells to the site of inflammation. The present study aimed to examine the relation of XCL1 serum levels with Multiple sclerosis (MS) and HTLV-1-associated myelopathy (HAM), as chronic inflammatory diseases of the central nervous system (CNS). DNA was extracted to evaluate HTLV-1 proviral load (PVL) using real-time PCR. Serum levels of XCL1 was determined by using an ELISA assay. The serum level of XCL1 was significantly higher in patients with HAM than that of asymptomatic carriers (ACs) and healthy controls (HCs) (p < 0.001 …

Extended Interval Dosing Natalizumab and impact on neuropsychological deficits in Relapsing-Remitting Multiple Sclerosis.

Background: Cognitive impairment and neuropsychiatric symptoms are frequently reported in Relapsing-Remitting Multiple Sclerosis (RRMS). Natalizumab (NTZ) is usually administered on a 4-weekly Standard Interval Dosing (SID) schedule. However, Extended Interval Dosing (EID) at 6-8 weekly intervals has been proven non-inferior regarding relapse risk, with a lower risk of Progressive Multifocal Leukoencephalopathy (PML). The impact of EID NTZ on neuropsychological deficits in RRMS has not been studied. Objective: To determine if EID NTZ demonstrates an improvement in neuropsychological parameters…

Microstructural White Matter Alterations in Cognitively Impaired Patients at Early Stages of Multiple Sclerosis.

PURPOSE: As conventional quantitative magnetic resonance imaging (MRI) parameters are weakly associated with cognitive impairment (CI) in early multiple sclerosis (MS), we explored microstructural white matter alterations in early MS or clinically isolated syndrome (CIS) comparing patients with or without CI. METHODS: Based on a preceding tract-based spatial statistics analysis (3 Tesla MRI) which contrasted 106 patients with early MS or CIS and 49 healthy controls, diffusion metrics (fractional anisotropy, FA, mean diffusivity, MD) were extracted from significant clusters using an atlas-base…

Multiple sclerosis and neuromyelitis optica spectrum disorder testing and treatment availability in Latin America.

BACKGROUND: The objective of our study was to describe the availability of diagnostic tests and treatment for MS and NMOSD in Latin America (LATAM). METHODS: A survey instrument was used in a sample of physicians from LATAM countries. The goal of the survey was to understand availability of: 1) imaging tests for diagnosing MS and NMOSD and its barriers; 2) diagnostic laboratory tests for diagnosing MS and NMOSD and its barriers; and 3) treatments for MS and NMOSD in the acute and chronic phases of the disease. RESULTS: Responses were received from 80 physicians. AQP4-ab test was available in

SARS-CoV-2 Infection in Multiple Sclerosis: Results of the Spanish Neurology Society Registry.

OBJECTIVE: To understand COVID-19 characteristics in people with multiple sclerosis (MS) and identify high-risk individuals due to their immunocompromised state resulting from the use of disease-modifying treatments. METHODS: Retrospective and multicenter registry in patients with MS with suspected or confirmed COVID-19 diagnosis and available disease course (mild = ambulatory; severe = hospitalization; and critical = intensive care unit/death). Cases were analyzed for associations between MS characteristics and COVID-19 course and for identifying risk factors for a fatal outcome. RESULTS: O…

Bruch's membrane opening-minimum rim width: An alternative OCT biomarker study for multiple sclerosis.

PURPOSE: Bruch's membrane opening-minimum rim width (BMO-MRW) and RNFL measured using anatomic positioning system (APS-RNFL) are novel OCT methods and remained unexplored in MS patients.To investigate the novel parameters of spectral-domain OCT as an alternative biomarker in patients with multiple sclerosis (MS). METHODS: Retrospective cohort study; participants consisted of relapsing-remitting MS (RRMS) patients and healthy controls (HC). Eyes were classified according to the presence of MS and previous optic neuritis (ON). Measurements of standard peripapillary RNFL (S-RNFL), BMO-MRW, and A…

Elucidating distinct clinico-radiologic signatures in the borderland between neuromyelitis optica and multiple sclerosis.

BACKGROUND: Separating antibody-negative neuromyelitis optica spectrum disorders (NMOSD) from multiple sclerosis (MS) in borderline cases is extremely challenging due to lack of biomarkers. Elucidating different pathologies within the likely heterogenous antibody-negative NMOSD/MS overlap syndrome is, therefore, a major unmet need which would help avoid disability from inappropriate treatment. OBJECTIVE: In this study we aimed to identify distinct subgroups within the antibody-negative NMOSD/MS overlap syndrome. METHODS: Twenty-five relapsing antibody-negative patients with NMOSD features un…

Ocular manifestations of multiple sclerosis in patients from three countries: A Web-based survey.

OBJECTIVE: This study evaluates the epidemiological characteristics, ophthalmological manifestations, and different therapeutic options available for patients with multiple sclerosis (MS) in China, Spain, and Cuba. METHODS: A self-designed questionnaire was used to conduct a comparable descriptive cross-sectional study on patients with MS. The survey included patients' demographic data, ocular manifestations related to MS, and treatment methodology followed in the three countries. The online survey was designed using the Wenjuanxing survey platform, and a survey link was circulated through Wh…

Management of Severe Graves' Hyperthyroidism in Pregnancy Following Immune Reconstitution Therapy in Multiple Sclerosis.

CONTEXT: Alemtuzumab (ALZ), a CD52 monoclonal antibody, is highly efficacious in multiple sclerosis; however, side effects are common. Autoimmune thyroid disease (Graves' disease and Hashimoto thyroiditis) is a well-known complication of ALZ. Treatment of ALZ-induced Graves' disease can be challenging, and even more difficult during pregnancy. CASE DESCRIPTION: We present a case of severe ALZ-induced Graves' disease with a rapid increase in thyrotropin receptor antibodies (TRAb 240 IU/L) and thyrotoxicosis in early pregnancy. Treatment with high doses of antithyroid medication was needed. The…

Deep Learning on Conventional Magnetic Resonance Imaging Improves the Diagnosis of Multiple Sclerosis Mimics.

OBJECTIVES: The aims of this study were to present a deep learning approach for the automated classification of multiple sclerosis and its mimics and compare model performance with that of 2 expert neuroradiologists. MATERIALS AND METHODS: A total of 268 T2-weighted and T1-weighted brain magnetic resonance imagin scans were retrospectively collected from patients with migraine (n = 56), multiple sclerosis (n = 70), neuromyelitis optica spectrum disorders (n = 91), and central nervous system vasculitis (n = 51). The neural network architecture, trained on 178 scans, was based on a cascade of 4…

Социальная когниция при множественном склерозе: A 3-Year Последующее МРТ и поведенческое исследование

В последнее десятилетие вопрос о социальном знании (СК) стал предметом широкого интереса. Дефицит СК был описан у пациентов с множественным склерозом (MS) в сочетании с повреждениями амигдалы, даже у тех, у кого нет формального когнитивного расстройства. В этом 3-year Последующее исследование было направлено на продольное изучение эволюции дефицита СК и повреждения амигдалы у группы пациентов, страдающих когнитивно-нормальными MS, а также связи между СК и психологическим благополучием. После 3 годы (T3) после базового экзамена (T0), 26 Пациенты, страдающие реанимацией MS (RRMS), прошли повторн

Совпадение в аннотации оригинала
Social cognition (SC) has become a topic of widespread interest in the last decade. SC deficits were described in multiple sclerosis (MS) patients, in association with amygdala lesions, even in those without formal cognitive impairment. In this 3-year follow-up study, we aimed at longitudinally investigating the evolution of SC deficits and amygdala damage i…

Safety of disease-modifying treatments in SARS-CoV-2 antibody-positive multiple sclerosis patients.

BACKGROUND: Coronavirus disease 2019 (COVID-19) raises particular concerns for people with multiple sclerosis (PwMS) on disease-modifying treatments (DMTs), and for physicians caring for them. The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on PwMS receiving DMTs that inhibit immune cell trafficking, such as natalizumab (NTZ) and fingolimod (FTY), remains to be determined, as do the possible effects of these drugs on both the infection and the related disease. AIMS: To describe self-reported COVID-19 symptoms and disease severity in PwMS on NTZ or FTY who …

Transcriptomic Analysis of Peripheral Monocytes upon Fingolimod Treatment in Relapsing Remitting Multiple Sclerosis Patients.

Fingolimod (FTY), a second-line oral drug approved for relapsing remitting Multiple Sclerosis (RRMS) acts in preventing lymphocyte migration outside lymph nodes; moreover, several lines of evidence suggest that it also inhibits myeloid cell activation. In this study, we investigated the transcriptional changes induced by FTY in monocytes in order to better elucidate its mechanism of action. CD14+ monocytes were collected from 24 RRMS patients sampled at baseline and after 6 months of treatment and RNA profiles were obtained through next-generation sequencing. We conducted pathway and sub-paths…

Dimethyl Fumarate Treatment in Patients With Primary Progressive Multiple Sclerosis: A Randomized, Controlled Trial.

BACKGROUND AND OBJECTIVE: To study whether dimethyl fumarate is superior to placebo in decreasing CSF concentrations of neurofilament light chain (NFL) in patients with primary progressive MS (PPMS). METHODS: In the double-blind, placebo-controlled phase 2 study dimethyl FUMArate treatment in Progressive Multiple Sclerosis (FUMAPMS), patients with PPMS were randomly assigned to treatment with 240 mg dimethyl fumarate or placebo in a 1:1 ratio for 48 weeks. The primary endpoint was change in concentration of NFL in the CSF. Secondary endpoints included other CSF biomarkers and clinical and MRI…

Follow-up after infectious mononucleosis in search of serological similarities with presymptomatic multiple sclerosis.

BACKGROUND: A two- to three-fold increase in the risk of multiple sclerosis (MS) after infectious mononucleosis (IM) has been observed in cohort and case control studies. However, this association has not been investigated prospectively from IM. It remains to be determined whether long-term immunospecific sequelae with features consistent with presymptomatic MS occur after IM. METHODS: Sera were obtained from individuals with acute IM from 2003-2007 (n = 42) and from the same individuals at a follow-up (FU) study approximately 10 years after IM. These were assayed for antibodies against a var…

Identification of two highly antigenic epitope markers predicting multiple sclerosis in optic neuritis patients.

BACKGROUND: Optic neuritis (ON) can occur as an isolated episode or will develop to multiple sclerosis (MS) a chronic autoimmune disease. What predicts ON progression to MS remains poorly understood. METHODS: We characterised the antibody epitope repertoire in three independent clinical cohorts (discovery (n = 62), validation (n = 20) and external cohort (n = 421)) using mimotope variation analysis (MVA), a next generation phage display technology to identify epitopes that associate with prognosis of ON. FINDINGS: We observed distinct epitope profiles for ON, MS and the controls, whereas epi…