Premorbid cognitive functioning influences differences between self-reported cognitive difficulties and cognitive assessment in multiple sclerosis

Cognitive difficulties are reported in up to 60% of people with MS (pwMS). There is often a discrepancy between self-reported cognitive difficulties and performance on cognitive assessments. Some of this discrepancy can be explained by depression and fatigue. Pre-MS cognitive abilities may be another important variable in explaining differences between self-reported and assessed cognitive abilities. PwMS with high estimated premorbid cognitive functioning (ePCF) may notice cognitive difficulties in daily life whilst performing within the average range on cognitive assessments. We hypothesised that, taking into account depression and fatigue, ePCF would predict (1) differences between self-reported and assessed cognitive abilities and (2) performance on cognitive assessments. We explored whether ePCF predicted (3) self-reported cognitive difficulties. Eighty-seven pwMS completed the Test of Premorbid Functioning (TOPF), the Brief International Cognitive Assessment for MS (BICAMS), self-report measures of cognitive difficulty (MS Neuropsychological Questionnaire; MSNQ), fatigue (MS Fatigue Impact Scale; MFIS) and depression (Hospital Anxiety and Depression Scale; HADS). Results revealed that, taking into account covariates, ePCF predicted (1) differences between self-reported and assessed cognitive abilities, p < .001 (model explained 29.35% of variance), and (2) performance on cognitive assessments, p < .001 (model explained 46.00% of variance), but not (3) self-reported cognitive difficulties, p = .545 (model explained 35.10% of variance). These results provide new and unique insights into predictors of the frequently observed discrepancy between self-reported and assessed cognitive abilities for pwMS. These findings have important implications for clinical practice, including the importance of exploring premorbid factors in self-reported experience of cognitive difficulties.Open access funding provided by IReLUniversity College Dublin School of MedicineNovartis & RocheBiogenAdd citation details on check date -- J

Visualisation of the medial longitudinal fasciculus using fibre tractography in multiple sclerosis patients with internuclear ophthalmoplegia

Background: This study investigates the use of fibre tractography to facilitate visualisation of the medial longitudinal fasciculus (MLF) and the impact of internuclear ophthalmoplegia (INO) causing lesions on these reconstructions of the tract. Improved visualisation of such tracts may improve knowledge, understanding and confidence related to neurological conditions. Aims: To explore the use of fibre tractography for the visualisation of the MLF in patients with INO. Methods: Twelve MS subjects with clinical evidence of INO and 12 matched controls underwent magnetic resonance imaging (MRI), including diffusion tensor imaging (DTI), of the brain. Fibre tractography reconstructions were then evaluated and validated by an experienced neuroanatomist. Results: The evaluating neuroanatomist confirmed that the MLF had been reproduced in all of the reconstructed cases (fibre tractography was unsuccessful in five cases). The sensitivity of fibre tractography to MLF pathology was 58.3 % while the specificity was much higher at 85.7 % with a positive predictive value of 87.5 % and a negative predictive value of 54.6 %, with excellent intra-reader reliability. Conclusion: This study demonstrates that fibre tractography of the MLF can potentially be performed with a view to facilitating improved visualisation of the tract and associated pathology in cases of INO. This may help explain the association between lesion type and location with clinical symptomatology and may assist in monitoring disease progression. These reconstructions may provide a valuable addition to the teaching and understanding of clinical signs related to subtle pathology.UCD Seed Funding and Overhead Investment Plan SchemesUCD School of MedicineMedical Science Research Support SchemeNational Multiple Sclerosis Society (USA) Research Awar

Тактика ведения пациентов при синдроме Мэллори-Вейсса

МЭЛЛОРИ-ВЕЙСА СИНДРОМ /диагн /терПИЩЕВОДА ПЕРФОРАЦИЯ /диагн /терЖЕЛУДОЧНО-КИШЕЧНОЕ КРОВОТЕЧЕНИЕГЕМОСТАЗ ЭНДОСКОПИЧЕСКИ

Attitudes of US medical trainees towards neurology education: "Neurophobia" - a global issue

<p>Abstract</p> <p>Background</p> <p>Several studies in the United Kingdom and Asia have suggested that medical students and residents have particular difficulty in diagnosing and managing patients with neurological problems. Little recent information is available for US trainees. We examined whether students and residents at a US university have difficulty in dealing with patients with neurological problems, identified the perceived sources of these difficulties and provide suggestions for the development of an effective educational experience in neurology.</p> <p>Methods</p> <p>A questionnaire was administered to third and fourth year medical students at a US school of medicine and to residents of an internal medicine residency program affiliated with that school. Perceived difficulties with eight medical specialties, including neurology, were examined. Methods considered to be most useful for learning medicine were documented. Reasons why neurology is perceived as difficult and ways to improve neurological teaching were assessed.</p> <p>Results</p> <p>152 surveys were completed. Participation rates varied, with medical students having higher response rates (> 50%) than medical residents (27%-48%). Respondents felt that neurology was the medical specialty they had least knowledge in (p < 0.001) and was most difficult (p < 0.001). Trainees also felt they had the least confidence when dealing with patients with neurological complaints (p < 0.001). Residents felt more competent in neurology than students (p < 0.001). The paramount reasons for perceived difficulties with neurology were the complexity of neuroanatomy, limited patient exposure and insufficient teaching. Transition from pre-clinical to clinical medicine led to a doubling of "poor" ratings for neurological teaching. Over 80% of the respondents felt that neurology teaching could be improved through greater exposure to patients and more bedside tutorials.</p> <p>Conclusions</p> <p>Medical students and residents at this US medical university found neurology difficult. Although this is consistent with prior reports from Europe and Asia, studies in other universities are needed to confirm generalizability of these findings. The optimal opportunity for improvement is during the transition from preclinical to clinical years. Enhanced integration of basic neurosciences and clinical neurology with emphasis on increased bedside tutorials and patient exposure should improve teaching. Studies are needed to quantify the effect of these interventions on confidence of trainees when dealing with patients presenting with neurological complaints.</p

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis

Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips

The Brassica napus 60K Illumina Infinium™ SNP array has had huge international uptake in the rapeseed community due to the revolutionary speed of acquisition and ease of analysis of this high-throughput genotyping data, particularly when coupled with the newly available reference genome sequence. However, further utilization of this valuable resource can be optimized by better understanding the promises and pitfalls of SNP arrays. We outline how best to analyze Brassica SNP marker array data for diverse applications, including linkage and association mapping, genetic diversity and genomic introgression studies. We present data on which SNPs are locus-specific in winter, semi-winter and spring B. napus germplasm pools, rather than amplifying both an A-genome and a C-genome locus or multiple loci. Common issues that arise when analyzing array data will be discussed, particularly those unique to SNP markers and how to deal with these for practical applications in Brassica breeding applications

Short bouts of gait data and inertial sensors can provide reliable measures of spatiotemporal gait parameters from bilateral gait data of participants with multiple sclerosis

Background: Wearable devices equipped with inertial sensors enable objective gait assessment for persons with multiple sclerosis (MS), with potential use in ambulatory care or home and community-based assessments. However, gaitdata collected in non-controlled settings is often fragmented and may not provide enough information forreliable measures. We evaluate a novel approach, extracting pre-defined numbers of gait cycles from the fulllength of a walking task, and their effects on the reliability of spatiotemporal gait parameters. Methods: The present study evaluates intra-session reliability of spatiotemporal gait parameters for short bouts of gaitdata extracted from the full length of the walking tasks to 1) determine the effects of the length of the walkingtask on the reliability of calculated measures and 2) identify spatiotemporal gait parameters that can providereliable measures for gait assessments and reference data in different settings. Thirty-seven participants (37) diagnosed with relapsing-remitting MS (EDSS rage 0 to 4.5) executed two trials,walking 20m each, with inertial sensors attached to their right and left shanks. Previously published algorithms were applied to identify gait events from the medio-lateral angular velocity. Short bouts of gait data wereextracted from each trial, with lengths varying from 3 to 9 gait cycles. Twenty-one measures of spatiotemporalgait parameters were calculated. Intraclass correlation coefficients (ICCs) were calculated to evaluate how the degree of agreement between the two trials of each participant varied with the number of gait cycles included inthe analysis. Results: Spatiotemporal gait parameters calculated as the mean across included gait cycles reach excellent reliabilityfrom three gait cycles. Stride time variability and asymmetry, as well as stride velocity variability and asymmetry, reach good reliability from six gait cycles and should be further explored for persons with MS, whilestride time asymmetry and step time asymmetry do not seem to provide reliable measures and should bereported carefully. Conclusion: Short bouts of gait data, including at least six gait cycles of bilateral data, can provide reliable gait measurements for persons with MS, opening new perspectives for gait assessment using wearable devices in non-controlled environments, to support monitoring of symptoms of persons with neurological diseases.European Commission Horizon 2020Science Foundation Ireland -- replaceInsight Research Centr