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Multi sclerosis

Tien Tay, Nava Ferdowsi, Murray Baron, Wendy Stevens, Marie Hudson, Susanna M Proudman, Mandana Nikpour
OBJECTIVES: To identify and appraise measures of disease status in systemic sclerosis (SSc). METHODS: A systematic review of Medline (1966-2015), EMBASE (1974-2015), and Cochrane Library (inception-2015) was undertaken to identify indices of disease status in SSc. We focused on objective measures and excluded non-English articles. Measures were reviewed for content, whether they measured activity, damage and/or severity and whether they were validated according to the OMERACT filter...
July 29, 2016: Seminars in Arthritis and Rheumatism
Zhe Wang, A Dessa Sadovnick, Anthony L Traboulsee, Jay P Ross, Cecily Q Bernales, Mary Encarnacion, Irene M Yee, Madonna de Lemos, Talitha Greenwood, Joshua D Lee, Galen Wright, Colin J Ross, Si Zhang, Weihong Song, Carles Vilariño-Güell
Identifying rare genetic variants that drive the onset of disease is challenging, even before considering the additional genetic and environmental influences that likely exist in complex diseases. We recently published a study proposing a rare variant in the NR1H3 gene (p.R415Q, rs61731956) as responsible for the onset of multiple sclerosis (MS) in two multi-incident families (Wang et al., 2016). This publication has generated much discussion, and fortunately the possibility to validate a finding or prove it spurious can occur rapidly in genetic studies...
October 19, 2016: Neuron
Ioannis E Dagklis, Vasilis H Aletras, Efthymia Tsantaki, Anastasios Orologas, Dimitrios Niakas
An ongoing debate on decision and cost-utility analyses is whether to use preferences of general public or patients. The aim of this study was to replicate the valuation procedure of the multi-attribute utility generic measure, 15D, using a sample of multiple sclerosis (MS) patients and to assess its psychometric properties. Consecutive outpatient MS patients were recruited from two MS centers in Greece. The three-stage valuation procedure was applied and, with the use of elicited preference weights, an MS patients' algorithm was developed...
September 30, 2016: Neurology International
Piotr T Filipczak, Cynthia L Thomas, Wenshu Chen, Andrew Salzman, Jacob D McDonald, Yong Lin, Steven A Belinsky
Tuberous sclerosis complex (TSC) is a genetic multi-organ disorder characterized by the development of neoplastic lesions in kidney, lung, brain, heart and skin. It is caused by an inactivating mutation in tumor suppressor genes coding the TSC1/TSC2 complex, resulting in hyperactivation of mTOR- and Raf/MEK/MAPK-dependent signaling that stimulates tumor cell proliferation and metastasis. Despite its oncogenic effect, cells with TSC deficiency were more sensitive to oxidative stress and dependent on mitochondrial metabolism, providing a rationale for a new therapeutic approach...
October 18, 2016: Cancer Research
Leah H Suttner, Amanda Mejia, Blake Dewey, Pascal Sati, Daniel S Reich, Russell T Shinohara
Diffusion tensor imaging (DTI) has become the predominant modality for studying white matter integrity in multiple sclerosis (MS) and other neurological disorders. Unfortunately, the use of DTI-based biomarkers in large multi-center studies is hindered by systematic biases that confound the study of disease-related changes. Furthermore, the site-to-site variability in multi-center studies is significantly higher for DTI than that for conventional MRI-based markers. In our study, we apply the Quantitative MR Estimation Employing Normalization (QuEEN) model to estimate the four DTI measures: MD, FA, RD, and AD...
2016: NeuroImage: Clinical
Benjamin De Leener, Simon Lévy, Sara M Dupont, Vladimir S Fonov, Nikola Stikov, D Louis Collins, Virginie Callot, Julien Cohen-Adad
For the past 25 years, the field of neuroimaging has witnessed the development of several software packages for processing multi-parametric magnetic resonance imaging (mpMRI) to study the brain. These software packages are now routinely used by researchers and clinicians, and have contributed to important breakthroughs for the understanding of brain anatomy and function. However, no software package exists to process mpMRI data of the spinal cord. Despite the numerous clinical needs for such advanced mpMRI protocols (multiple sclerosis, spinal cord injury, cervical spondylotic myelopathy, etc...
October 5, 2016: NeuroImage
Kamila Rasova, Jenny Freeman, Patricia Martinkova, Marketa Pavlikova, Davide Cattaneo, Johanna Jonsdottir, Thomas Henze, Ilse Baert, Paul Van Asch, Carme Santoyo, Tori Smedal, Antonie Giæver Beiske, Małgorzata Stachowiak, Mariusz Kovalewski, Una Nedeljkovic, Daphne Bakalidou, José Manuel Alves Guerreiro, Ylva Nilsagård, Erieta Nikolikj Dimitrova, Mario Habek, Kadriye Armutlu, Cécile Donzé, Elaine Ross, Ana Maria Ilie, Andrej Martić, Anders Romberg, Peter Feys
BACKGROUND: Understanding the organisational set-up of physiotherapy services across different countries is increasingly important as clinicians around the world use evidence to improve their practice. This also has to be taken into consideration when multi-centre international clinical trials are conducted. This survey aimed to systematically describe organisational aspects of physiotherapy services for people with multiple sclerosis (MS) across Europe. METHODS: Representatives from 72 rehabilitation facilities within 23 European countries completed an online web-based questionnaire survey between 2013 and 2014...
October 6, 2016: BMC Health Services Research
Matthew B Wall, David Birch, May Y Yong
Neuroimaging experiments can generate impressive volumes of data and many images of the results. This is particularly true of multi-modal imaging studies that use more than one imaging technique, or when imaging is combined with other assessments. A challenge for these studies is appropriate visualisation of results in order to drive insights and guide accurate interpretations. Next-generation visualisation technology therefore has much to offer the neuroimaging community. One example is the Imperial College London Data Observatory; a high-resolution (132 megapixel) arrangement of 64 monitors, arranged in a 313 degree arc, with a 6 metre diameter, powered by 32 rendering nodes...
2016: F1000Research
Samy L Habib, Noor Y Al-Obaidi, Maciej Nowacki, Katarzyna Pietkun, Barbara Zegarska, Tomasz Kloskowski, Wojciech Zegarski, Tomasz Drewa, Edward A Medina, Zhenze Zhao, Sitai Liang
Tuberous sclerosis complex (TSC) is an autosomal dominant and multi-system genetic disorder in humans. TSC affects around 25,000 to 40,000 individuals in the United States and about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. TSC occurs in all races and ethnic groups, and in both genders. TSC is caused by defects or mutations in two genes, TSC1 and TSC2. Loss of TSC1/TSC2 leads to dysregulation of mTOR, resulting in aberrant cell differentiation and development, and abnormal enlargement of cells...
2016: Journal of Cancer
Franceso Zulian, Marta Balzarin, Carolina Birolo
Juvenile Systemic Sclerosis (JSSc) is one of the most severe multi-systemic connective tissue conditions encountered in pediatric rheumatology. Due to its high morbidity and mortality rate, early diagnosis, proper assessment and effective treatment are crucial. Areas covered: In this review, we will focus on the recent advances on the classification and general management of JSSc based on the literature search and on the Authors' experience. Expert Commentary: Classification criteria for the pediatric forms of systemic sclerosis, the new proposed assessment tools, such as the juvenile systemic sclerosis severity score, named J4S, and new techniques for the internal organs assessment, will facilitate both daily practice and research projects...
October 3, 2016: Expert Review of Clinical Immunology
Morten Stilund, Mikkel Carstensen Gjelstrup, Tove Christensen, Holger Jon Møller, Thor Petersen
OBJECTIVES: This study aimed to examine the levels of the macrophage marker sCD163 and other biomarkers at the time of diagnosis of patients with either clinically isolated syndrome (CIS) or relapsing-remitting multiple sclerosis (RRMS), and assess relation to clinical indicators of prognosis, disease activity (DA), and changes in the levels of these biomarkers at follow-up. MATERIALS AND METHODS: The clinical status and MRI were reevaluated in 56 patients more than 1 year after diagnosis with a median follow-up time of 2 years...
September 2016: Brain and Behavior
Eva De Pin, Yoshimasa Sagawa, Thierry Moulin, Pierre Decavel
OBJECTIVE: Fatigue and gait impairment are two of the most common and disabling symptoms in patients with multiple sclerosis (PwMS). If on one side, the gait evaluation of PwMS is well established, on the other side, there is no consensus about which instrument is the most pertinent and reproducible to evaluate fatigue in PwMS [1]. The objectives of this study were: - to determine which fatigue scales is the most reproducible and; - to establish the associations between fatigue scales and the gait of PwMS...
September 2016: Annals of Physical and Rehabilitation Medicine
Marc Genty, Richard Devy, Gilles Edan, Philippe Lehert
OBJECTIVE: Multiple sclerosis (MS) severely affect quality of life (QoL). Pharmacological treatments demonstrated benefits on clinical endpoints, however, without proving a significant effect on QoL, we test the effect of a cognitive behavioural therapy (CBT) on QoL and investigate the association between QoL and illness progression. MATERIALS/PATIENTS AND METHODS: One-year multicenter controlled multivariate-matched study on relapsing remitting ms (RRMS) patient expended disability status scale (EDSS) <4 ms duration<2 years treated by interferon in 11 French centres...
September 2016: Annals of Physical and Rehabilitation Medicine
Charlotte Rose Wicks, Karl Ward, Amanda Stroud, Alan Tennant, Helen L Ford
BACKGROUND: People with multiple sclerosis often stop working earlier than expected. Psychological factors may have an impact on job retention. Investigation may inform interventions to help people stay in work. OBJECTIVE: To investigate the associations between psychological factors and work instability in people with multiple sclerosis. METHODS: A multi-method, 2-phased study. Focus groups were held to identify key themes. Questionnaire packs using validated scales of the key themes were completed at baseline and at 8-month follow-up...
October 12, 2016: Journal of Rehabilitation Medicine
Sara M Dupont, Benjamin De Leener, Manuel Taso, Arnaud Le Troter, Nikola Stikov, Virginie Callot, Julien Cohen-Adad
: The spinal cord white and gray matter can be affected by various pathologies such as multiple sclerosis, amyotrophic lateral sclerosis or trauma. Being able to precisely segment the white and gray matter could help with MR image analysis and hence be useful in further understanding these pathologies, and helping with diagnosis/prognosis and drug development. Up to date, white/gray matter segmentation has mostly been done manually, which is time consuming, induces a bias related to the rater and prevents large-scale multi-center studies...
September 20, 2016: NeuroImage
T Ayuso, M E Marzo-Sola, T Castillo-Trivino, G Soriano, M A Otano, M A Lopez, I M Croitoru, J Olascoaga
AIM: To evaluate the effectiveness and safety of fingolimod in clinical practice in Navarra, Gipuzkoa and La Rioja regions. PATIENTS AND METHODS: We conducted a retrospective multi-centre study with recurrent multiple sclerosis patients treated with fingolimod, following the product data sheet. The following data were evaluated: annualised relapse rate (ARR), percentage of patients free from relapses, disability using the Expanded Disability Status Scale (EDSS) and the percentage of patients without gadolinium-enhancing lesions...
September 5, 2016: Revista de Neurologia
J Mallada, N Perez-Carmona, L Berenguer-Ruiz, R Sanchez-Perez, R Martin-Gonzalez, D Sola-Martinez, S Mola, J M Lopez-Arlandis, R Vela-Yebra, L Gabaldon-Torres, E Freire-Alvarez, A Garcia-Escriva, A P Sempere
INTRODUCTION: Post-authorisation studies are important to confirm whether the outcomes of clinical trials are reproduced in usual clinical practice. AIMS: To evaluate the effectiveness and safety of fingolimod in clinical practice in the province of Alicante. PATIENTS AND METHODS: A retrospective multi-centre study was conducted with remitting multiple sclerosis patients treated with fingolimod. Demographic, clinical and pharmacological data were collected...
September 5, 2016: Revista de Neurologia
A Oterino, D F Uria, J Pena, D Solar, J Villafani, P Oliva-Nacarino, R Suarez-Moro, V G Quintanilla
AIM: To evaluate the effectiveness and safety of fingolimod in routine clinical practice in the region of Asturias and Cantabria (Spain). PATIENTS AND METHODS: We conducted a retrospective multicentre study of patients with relapsing-remitting multiple sclerosis treated with fingolimod, in accordance with the product data sheet. Effectiveness was evaluated in patients with at least one year's treatment. The following were calculated: annualised relapse rate (ARR), the percentage of patients free from relapses and free from gadolinium-enhancing lesions, and those who improved/maintained their score on the Expanded Disability Status Scale (EDSS)...
September 5, 2016: Revista de Neurologia
A Pato-Pato, L Midaglia, E Costa-Arpin, A Rodriguez-Regal, A Puy-Nunez, M Rodriguez-Rodriguez, A Lopez-Real, M A Llaneza-Gonzalez, D A Garcia-Estevez, M J Moreno-Carretero, D Escriche-Jaime, M L Aguado-Valcarcel, D Munoz, J M Prieto, J R Lorenzo-Gonzalez, M C Amigo-Jorrin
INTRODUCTION: The effectiveness and safety of fingolimod in patients with relapsing-remitting multiple sclerosis (RRMS) have been proven in clinical trials. Yet, due to their limitations, it is important to know how it behaves under everyday clinical practice conditions. Hence, the aim of this study is to evaluate the effectiveness and safety of fingolimod after 12 months' usage in clinical practice in Galicia. PATIENTS AND METHODS: We conducted a retrospective, multi-centre study (n = 8) of patients with RRMS who were treated with one or more doses of fingolimod, 0...
September 5, 2016: Revista de Neurologia
Omar Laghzaoui
The influence of hormonal status during the autoimmune disease is clearly established, with peak prevalence during the reproductive years where the interest of our retrospective study of 32 cases of pregnant patients with autoimmune pathologies. Relapses of the disease during pregnancy are especially observed in pregnant with lupus erythematosus and Behçet's disease while in post-partum complications were observed in cases of rheumatoid arthritis, multiple sclerosis and scleroderma. The fetal complications depend on the stage and type of autoimmune disease and the association with other pathologies...
2016: Pan African Medical Journal
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