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Multiple sclerosis diagnosis

J Vistbakka, M-L Sumelahti, T Lehtimäki, I Elovaara, S Hagman
BACKGROUND: Biomarkers that could be used in early diagnosis of multiple sclerosis (MS), segregation of disease subtypes, and discrimination of the aggressive disease course from the benign one are urgently needed. OBJECTIVE: The aim of this study was to investigate the specificity of circulating microRNAs: miR-191-5p, miR-128-3p, miR-24-3p, and miR-376c-3p in MS and evaluate their association with disease activity and disability progression. METHODS: The expressions of circulating miRNAs were studied in serum of 100 subjects (53 relapsing-remitting (RRMS), 20 primary progressive (PPMS), and 27 controls), using miScript serum miRNA RT-PCR assay techniques...
March 12, 2018: Acta Neurologica Scandinavica
Franziska Di Pauli, Markus Reindl, Thomas Berger
Acquired demyelinating CNS syndromes include a broad spectrum of clinical phenotypes and different entities can overlap. Therefore, differential diagnosis is still challenging. A humoral immune reaction against myelin oligodendrocyte glycoprotein (MOG) is present in a subgroup of these patients, particularly in children. Anti-MOG antibodies indicate a non-multiple sclerosis disease course. Indeed, early publications have suggested that anti-MOG antibodies argue for a monophasic course; recently an association with a high risk for recurrent non-MS disease has been shown...
February 22, 2018: Multiple Sclerosis and related Disorders
Stanley L Cohan, Harold Moses, Jonathan Calkwood, Carlo Tornatore, Chris LaGanke, Kyle E Smoot, Venkata Meka, Macaulay Okwuokenye, Christophe Hotermans, Jason P Mendoza, Monica K Mann, Leslie A Meltzer
BACKGROUND: Delayed-release dimethyl fumarate (DMF) may be a therapeutic option for patients with relapsing-remitting multiple sclerosis (RRMS) who are treated with natalizumab and require a change in therapy. However, there is limited information regarding predictors of favorable treatment outcomes in patients switching from natalizumab to DMF. Clinical practices and sequencing protocols vary. Herein, we present the clinical results, including annualized relapse rate (ARR) and risk of relapse, of a phase 4 retrospective observational study of patients with RRMS who switched from natalizumab to DMF in a community practice setting (STRATEGY)...
February 26, 2018: Multiple Sclerosis and related Disorders
Raed Alroughani, Alexey Boyko
BACKGROUND: Pediatric-onset multiple sclerosis (POMS) prevalence and incidence rates are increasing globally. No disease-modifying therapy are approved for MS pediatric population. Hence, we aim to review the literature on POMS to guide treating physicians on the current understanding of diagnosis and management of pediatric MS. METHODS: The authors performed a literature search and reviewed the current understanding on risk factors and disease parameters in order to discuss the challenges in assessing and implementing diagnosis and therapy in clinical practice...
March 9, 2018: BMC Neurology
Ruth Geraldes, Olga Ciccarelli, Frederik Barkhof, Nicola De Stefano, Christian Enzinger, Massimo Filippi, Monika Hofer, Friedemann Paul, Paolo Preziosa, Alex Rovira, Gabriele C DeLuca, Ludwig Kappos, Tarek Yousry, Franz Fazekas, Jette Frederiksen, Claudio Gasperini, Jaume Sastre-Garriga, Nikos Evangelou, Jacqueline Palace
MRI red flags proposed over a decade ago by the European Magnetic Resonance Network in MS (MAGNIMS) have guided clinicians in the diagnosis of multiple sclerosis (MS). However, the past 10 years have seen increased recognition that vascular disease can coexist and possibly interact with MS, improvements in the reliability of ways to differentiate MS from novel antibody-mediated CNS disorders (such as anti-aquaporin-4 antibody and myelin-oligodendrocyte glycoprotein antibody-associated diseases) and advances in MRI techniques...
March 9, 2018: Nature Reviews. Neurology
Alham Al-Sharman, Hanan Khalil, Mohammad Nazzal, Nihaya Al-Sheyab, Alia Alghwiri, Khalid El-Salem, Mais AlDughmi
BACKGROUND: Multiple sclerosis (MS) symptoms are very heterogeneous and may lead to reduced physical, cognitive, and psychosocial functioning that can consequently impair aspects of individual's life. Many studies have examined the living experiences of individuals with MS and its impact on their daily lives. In developing countries and particularly in Jordan, there has been little attempt to conduct studies exploring the experiences of people living with MS. Such knowledge will provide a background to hidden aspects of human concepts, such as culture, perception, and attitudes about chronic diseases...
March 9, 2018: Physiotherapy Research International: the Journal for Researchers and Clinicians in Physical Therapy
R Magliozzi, O W Howell, R Nicholas, C Cruciani, M Castellaro, C Romualdi, S Rossi, M Pitteri, M D Benedetti, A Gajofatto, F B Pizzini, S Montemezzi, S Rasia, R Capra, A Bertoldo, F Facchiano, S Monaco, R Reynolds, M Calabrese
OBJECTIVE: Grey matter (GM) damage and meningeal inflammation have been associated with early disease onset and a more aggressive disease course in Multiple Sclerosis (MS), but can these changes be identified in the patient early in the disease course? METHODS: To identify possible biomarkers linking meningeal inflammation, GM damage and disease severity, gene and protein expression were analysed in meninges and CSF from 27 post-mortem secondary progressive MS (SPMS) and 14 control cases...
March 8, 2018: Annals of Neurology
Rosa Cortese, Lise Magnollay, Carmen Tur, Khaled Abdel-Aziz, Anu Jacob, Floriana De Angelis, Marios C Yiannakas, Ferran Prados, Sebastien Ourselin, Tarek A Yousry, Frederik Barkhof, Olga Ciccarelli
OBJECTIVE: To assess the value of the central vein sign (CVS) on a clinical 3T scanner to distinguish between multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). METHODS: Eighteen aquaporin-4-antibody-positive patients with NMOSD, 18 patients with relapsing-remitting MS, and 25 healthy controls underwent 3T MRI. The presence of a central vein in white matter lesions on susceptibility-weighted imaging, defined as a thin hypointense line or a small dot, was recorded...
March 7, 2018: Neurology
Zamzam Mahamud, Joachim Burman, Johan Zelano
BACKGROUND: The 2014 ILAE clinical definition of epilepsy allows diagnosis after a single unprovoked seizure if the 10-year recurrence risk exceeds 60%. Multiple sclerosis (MS) carries an increased risk of epilepsy, but the risk after a first seizure is unknown. We aimed to investigate the risk of epilepsy in patients with MS who had suffered a first seizure. METHODS: We cross-referenced data from the Swedish MS-register with the national patient register for 15810 MS patients and 43635 controls and included 289 MS patients and 222 controls with a first diagnosis of seizure or status epilepticus (SE) without prior epilepsy or presumed symptomatic aetiology...
March 7, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Ida Manna, Enrico Iaccino, Vincenzo Dattilo, Stefania Barone, Eleonora Vecchio, Selena Mimmi, Enrica Filippelli, Giulio Demonte, Serena Polidoro, Alfredo Granata, Sara Scannapieco, Ileana Quinto, Paola Valentino, Aldo Quattrone
Multiple sclerosis (MS) is an autoimmune pathology leading to neurodegeneration. Because of the complexity and heterogenic etiology of this disease, diagnosis and treatment for individual patients are challenging. Exosome-associated microRNAs (miRNAs) have recently emerged as a new class of diagnostic biomarkers involved in both autoimmune and neurologic disorders. Interesting new evidence has emerged showing that circulating miRNAs are dysregulated in MS body fluids, including serum, plasma, and cerebrospinal fluid...
March 5, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Amit Katiyar, Sujata Sharma, Tej P Singh, Punit Kaur
Women with endometriosis (EMS) appear to be at a higher risk of developing other autoimmune diseases predominantly multiple sclerosis (MS). Though EMS and MS are evidently diverse in their phenotype, they are linked by a common autoimmune condition or immunodeficiency which could play a role in the expansion of endometriosis and possibly increase the risk of developing MS in women with EMS. However, the common molecular links connecting EMS with MS are still unclear. We conducted a meta-analysis of microarray experiments focused on EMS and MS with their respective controls...
2018: Frontiers in Genetics
Alessio Farcomeni, Antonio Cortese, Eleonora Sgarlata, Danilo Alunni Fegatelli, Gerolama Alessandra Marfia, Fabio Buttari, Massimiliano Mirabella, Chiara De Fino, Luca Prosperini, Carlo Pozzilli, Maria Grazia Grasso, Luigi Iasevoli, Giancarlo Di Battista, Enrico Millefiorini
BACKGROUND: Limited data are available on the prevalence of multiple sclerosis (MS) in central Italy. The objective of this study is to estimate MS prevalence in the metropolitan area of Rome. METHODS: We used the capture-recapture method to calculate prevalence estimates in the study area. The selected prevalence day was December 31, 2015. A total of 1,007 patients, with a definite diagnosis of MS according to the revised McDonald's criteria, were considered for crude, age- and sex-specific prevalence estimation...
March 2, 2018: Neuroepidemiology
Anu Paul, Manuel Comabella, Roopali Gandhi
Multiple sclerosis (MS) is a chronic neurodegenerative autoimmune disease with a complex clinical course characterized by inflammation, demyelination, and axonal degeneration. Diagnosis of MS most commonly includes finding lesions in at least two separate areas of the central nervous system (CNS), including the brain, spinal cord, and optic nerves. In recent years, there has been a remarkable increase in the number of available treatments for MS. An optimal treatment is usually based on a personalized approach determined by an individual patient's prognosis and treatment risks...
March 2, 2018: Cold Spring Harbor Perspectives in Medicine
Anna Papadopoulou, Argyrios Dinopoulos, George Koutsodontis, Roser Pons, Pelagia Vorgia, Vasiliki Koute, Athanassios Vratimos, Dimitrios Zafeiriou
Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
Soohyun Kim, Lawrence Chang, Bianca Weinstock-Guttman, Sirin Gandhi, Dejan Jakimovski, Ellen Carl, Robert Zivadinov, Murali Ramanathan
OBJECTIVES: To investigate the factors associated with complementary and alternative medicine (CAM) usage by multiple sclerosis (MS) patients. Design, Setting/Location: Single-center, prospective clinical study at an academic MS center in the northeastern United States. METHODS: This study included CAM data from 524 MS patients and 304 healthy controls (HC) enrolled in a prospective study of clinical, neuroimaging, and environmental risk factors in MS at an academic MS Center...
March 2, 2018: Journal of Alternative and Complementary Medicine: Research on Paradigm, Practice, and Policy
Natalie C Edwards, Michael Munsell, Joseph Menzin, Amy L Phillips
OBJECTIVE: To examine the time to first disease-modifying drug (DMD) treatment and to identify factors associated with early DMD initiation in newly diagnosed patients with MS. METHODS: This retrospective cohort study included newly diagnosed patients with MS from a US administrative claims database, aged 18-65 years, with a first MS diagnosis (ICD-9-CM code: 340.xx) between January 1, 2007 and June 30, 2013 (index date), continuous eligibility for 12 months pre- and 24 months post-index, and initiated DMD treatment within 2 years...
March 1, 2018: Current Medical Research and Opinion
Laura Dennison, Martina Brown, Sarah Kirby, Ian Galea
BACKGROUND: Multiple sclerosis (MS) has a varied and uncertain trajectory. The recent development of analytical processing tools that draw on large longitudinal patient databases facilitates personalised long-term prognosis estimates. This has the potential to improve both shared treatment decision-making and psychological adjustment. However, there is limited research on how people with MS feel about prognosis communication and forecasting. This study investigated the prognosis communication experiences and preferences of people with MS and explored whether clinical, demographic and psychological factors are associated with prognosis information preferences...
2018: PloS One
Paolo Colomba, Carmela Zizzo, Riccardo Alessandro, Giuseppe Cammarata, Simone Scalia, Antonello Giordano, Maurizio Pieroni, Luigi Sicurella, Luisa Amico, Alessandro Burlina, Giovanni Duro
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by α galactosidase A (α-gal A) deficiency. Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis. We analyzed the GLA gene, which encodes α-gal A, in 86 patients with clinical and neuroradiological findings consistent with MS to determine whether they had FD. We identified four women initially diagnosed with MS who had GLA mutations associated with FD...
January 30, 2018: Oncotarget
Sonia Nath, Jayant Prakash, Narendra Nath Singh, Virendra Kumar Prajapati
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem genetic disorder. It is characterised by formation of benign hamartomas, neurofibromas, and angiofibromas located in different organs. We describe a case of a 13-year boy who complained of gingival enlargement. Clinical examination showed distinctive dermatological signs like hypopigmented macules, shagreen plaques, miliary fibromas, fibrous plaques and multiple angiofibromas. Oral manifestation included localised gingival enlargement. Gingivectomy was performed and the excised tissue was submitted for histopathological examination...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Katrin Parmar, Brenda L Banwell, Nadine Akbar, Sandra Bigi
Pediatric onset multiple sclerosis (POMS) is a rare disease with an incidence of 0.07 to 2.9/100'000 children per year. It follows a relapsing-remitting disease course and is characterized by rapid accrual of inflammatory lesions, high relapse frequency, and early cognitive impairment. Magnetic resonance imaging (MRI) plays a pivotal role in the diagnosis of POMS, and in the exclusion of other disorders mimicking POMS. Furthermore, MRI aids in disease monitoring, and in the evaluation of therapeutic efficacy in both clinical practice and clinical trials...
February 26, 2018: Neuropediatrics
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