MRI‐based thalamic volumetry in multiple sclerosis using FSL‐FIRST: Systematic assessment of common error modes

2021 ◽  
Author(s):  
Cassondra Lyman ◽  
Dongchan Lee ◽  
Hannah Ferrari ◽  
Tom A. Fuchs ◽  
Niels Bergsland ◽  
...  

2018 ◽  
Vol 9 ◽  
Author(s):  
Tanja Daltrozzo ◽  
Alexander Hapfelmeier ◽  
Ewan Donnachie ◽  
Antonius Schneider ◽  
Bernhard Hemmer


2011 ◽  
Vol 18 (5) ◽  
pp. 616-621 ◽  
Author(s):  
Ana Martins Silva ◽  
Ernestina Santos ◽  
Inês Moreira ◽  
Andreia Bettencourt ◽  
Ester Coutinho ◽  
...  

Objective: The Brief Smell Identification Test (B-SIT) was used to explore odour identification capacities in multiple sclerosis (MS). Methods: In total, 153 consecutive patients with MS and 165 healthy controls (HC) participated in the study. All participants were asked to answer the B-SIT and the Hospital Anxiety and Depression Scale (HADS). The Expanded Disability Status Scale (EDSS), the Multiple Sclerosis Severity Scale (MSSS), and the Mini-Mental State Examination (MMSE) were used for patients’ clinical and cognitive characterization. Results: Patients with MS (11.1%) were more impaired on the B-SIT than HC participants (3%). The frequency of impairment was higher for patients with secondary progressive (SPMS; 11/16, 68.8%) than relapsing–remitting (RRMS; 4/121, 3.3%) or primary progressive (2/16, 12.5%) courses. A threshold score of ≤ 8 on the B-SIT provided a sensitivity of 69% and a specificity of 97% in the identification of SPMS among patients with relapsing onset. The association between SPMS and impaired B-SIT remained statistically significant after adjusting for demographic (i.e. age and education), clinical (i.e. disease duration, EDSS, and MSSS), psychopathological (i.e. HADS anxiety and depression scores), and cognitive (i.e. MMSE) variables. Conclusions: A brief odour identification measure provided a good discrimination between SPMS and RRMS courses. A systematic assessment of olfactory functions may contribute to the development of clinical markers of SPMS.



BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Tejaswi V. S. Badam ◽  
Hendrik A. de Weerd ◽  
David Martínez-Enguita ◽  
Tomas Olsson ◽  
Lars Alfredsson ◽  
...  

Abstract Background There exist few, if any, practical guidelines for predictive and falsifiable multi-omic data integration that systematically integrate existing knowledge. Disease modules are popular concepts for interpreting genome-wide studies in medicine but have so far not been systematically evaluated and may lead to corroborating multi-omic modules. Result We assessed eight module identification methods in 57 previously published expression and methylation studies of 19 diseases using GWAS enrichment analysis. Next, we applied the same strategy for multi-omic integration of 20 datasets of multiple sclerosis (MS), and further validated the resulting module using both GWAS and risk-factor-associated genes from several independent cohorts. Our benchmark of modules showed that in immune-associated diseases modules inferred from clique-based methods were the most enriched for GWAS genes. The multi-omic case study using MS data revealed the robust identification of a module of 220 genes. Strikingly, most genes of the module were differentially methylated upon the action of one or several environmental risk factors in MS (n = 217, P = 10− 47) and were also independently validated for association with five different risk factors of MS, which further stressed the high genetic and epigenetic relevance of the module for MS. Conclusions We believe our analysis provides a workflow for selecting modules and our benchmark study may help further improvement of disease module methods. Moreover, we also stress that our methodology is generally applicable for combining and assessing the performance of multi-omic approaches for complex diseases.



2018 ◽  
Author(s):  
Guido Giunti ◽  
Estefanía Guisado Fernández ◽  
Enrique Dorronzoro Zubiete ◽  
Octavio Rivera Romero

BACKGROUND Multiple sclerosis (MS) is a non-curable chronic inflammatory disease of the central nervous system that affects more than 2 million people worldwide. MS-related symptoms impact negatively on the quality of life of persons with MS, who need to be active in the management of their health. mHealth apps could support these patient groups by offering useful tools, providing reliable information, and monitoring symptoms. A previous study from this group identified needs, barriers, and facilitators for the use of mHealth solutions among persons with MS. It is unknown how commercially available health apps meet these needs. OBJECTIVE The main objective of this review was to assess how the features present in MS apps meet the reported needs of persons with MS. METHODS We followed a combination of scoping review methodology and systematic assessment of features and content of mHealth apps. A search strategy was defined for the two most popular app stores (Google Play and Apple App Store) to identify relevant apps. Reviewers independently conducted a screening process to filter apps according to the selection criteria. Interrater reliability was assessed through the Fleiss-Cohen coefficient (k=.885). Data from the included MS apps were extracted and explored according to classification criteria. RESULTS An initial total of 581 potentially relevant apps was found. After removing duplicates and applying inclusion and exclusion criteria, 30 unique apps were included in the study. A similar number of apps was found in both stores. The majority of the apps dealt with disease management and disease and treatment information. Most apps were developed by small and medium-sized enterprises, followed by pharmaceutical companies. Patient education and personal data management were among the most frequently included features in these apps. Energy management and remote monitoring were often not present in MS apps. Very few contained gamification elements. CONCLUSIONS Currently available MS apps fail to meet the needs and demands of persons with MS. There is a need for health professionals, researchers, and industry partners to collaborate in the design of mHealth solutions for persons with MS to increase adoption and engagement.



2017 ◽  
Vol 39 (3) ◽  
pp. 445-453 ◽  
Author(s):  
Diana Ferraro ◽  
Domenico Plantone ◽  
Franca Morselli ◽  
Giulia Dallari ◽  
Anna M. Simone ◽  
...  


2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Amy Perrin Ross ◽  
Alona Williamson ◽  
Jennifer Smrtka ◽  
Tracy Flemming Tracy ◽  
Carol Saunders ◽  
...  

There is need for a brief but comprehensive objective assessment tool to help clinicians evaluate relapse symptoms in patients with multiple sclerosis (MS) and their impact on daily functioning, as well as response to treatment. The 2-part Assessing Relapse in Multiple Sclerosis (ARMS) questionnaire was developed to achieve these aims. Part 1 consists of 7 questions that evaluate relapse symptoms, impact on activities of daily living (ADL), overall functioning, and response to treatment for previous relapses. Part 2 consists of 7 questions that evaluate treatment response in terms of symptom relief, functioning, and tolerability. The ARMS questionnaire has been evaluated in 103 patients with MS. The most commonly reported relapse symptoms were numbness/tingling (67%), fatigue (58%), and leg/foot weakness (55%). Over half of patients reported that ADL or overall functioning were affected very much (47%) or severely (11%) by relapses. Prescribed treatments for relapses included intravenous and/or oral corticosteroids (87%) and adrenocorticotropic hormone (13%). Nearly half of patients reported that their symptoms were very much (33%) or completely resolved (16%) following treatment. The most commonly reported adverse events were sleep disturbance (45%), mood changes (33%), weight gain (29%), and increased appetite (26%). Systematic assessment of relapses and response to relapse treatment may help clinicians to optimize outcomes for MS patients.



2020 ◽  
Author(s):  
Tejaswi V.S. Badam ◽  
Hendrik A. de Weerd ◽  
David Martínez-Enguita ◽  
Tomas Olsson ◽  
Lars Alfredsson ◽  
...  

ABSTRACTBackgroundThere are few (if any) practical guidelines for predictive and falsifiable multi-omics data integration that systematically integrate existing knowledge. Disease modules are popular concepts for interpreting genome-wide studies in medicine but have so far not been systematically evaluated and may lead to corroborating multi-omic modules.MethodsWe assessed eight module identification methods in 57 previously published expression and methylation studies of 19 diseases using GWAS enrichment analysis. Next, we applied the same strategy for multi-omics integration of 19 datasets of multiple sclerosis (MS), and further validated the resulting module using both GWAS and risk-factor associated genes from several independent cohorts.ResultsOur benchmark of modules showed that in immune-associated diseases modules inferred from clique-based methods were the most enriched for GWAS-genes. The multi-omics case study using MS revealed the robust identification of a module of 220 genes. Strikingly, most genes of the module was differentially methylated upon the action of one or several environmental risk factors in MS (n = 217, P = 10-47) and were also independently validated for association with five different risk factors of MS, which further stressed the high genetic and epigenetic relevance of the module for MS.ConclusionWe believe our analysis provides a workflow for selecting modules and our benchmark study may help further improvement of disease module methods. Moreover, we also stress that our methodology is generally applicable for combining and assessing the performance of multi-omics approaches for complex diseases.



Author(s):  
Francois A. Bethoux
Keyword(s):  


1996 ◽  
Vol 22 (3) ◽  
pp. 207-215 ◽  
Author(s):  
H. Li ◽  
M. L. Cuzner ◽  
J. Newcombe
Keyword(s):  


Sign in / Sign up

Export Citation Format

Share Document