Objective: To investigate accidental falls and near fall incidents in people with multiple sclerosis with respect to clinical variables and the predictive values of four tests.
Design: A ...longitudinal, multi-centred cohort study with prospectively collected falls.
Procedures: Self-reported incidents during the three months following a standardized test procedure.
Subjects: Seventy-six people with multiple sclerosis and an Expanded Disability Status Scale score between 3.5 and 6.0.
Main outcome measures: Berg Balance Scale, Timed Up and Go cognitive, Four Square Step Test (FSST) and 12-item Multiple Sclerosis Walking Scale.
Results: Forty-eight people (63%) registered 270 falls. Most falls occurred indoors during activities of daily life. We found a correlation of rs=0.57 between near falls and falls, and of rs = 0.82 between registered and retrospectively recalled falls. Fallers and non-fallers differed significantly regarding Expanded Disability Status Score (odds ratio (OR) 1.99, 95% confidence interval (CI) 1.22; 3.40), spasticity (OR 1.14, CI 1.02; 1.31), proprioception (OR 2.50, CI 1.36; 5.12) and use of walking aids (OR 2.27, CI 1.23; 4.37). Reported use of walking aids both indoors and outdoors increased the odds of falling fivefold while disturbed proprioception increased the odds 2.5—15.6 times depending on severity. The odds of falling were doubled for each degree of increased Expanded Disability Status Score and more than doubled for each degree of increased spasticity. The Berg Balance Scale, use of walking aids and Timed Up and Go cognitive best identified fallers (73—94%) and proprioception, Expanded Disability Status Score, 12-item Multiple Sclerosis Walking Scale and Four Square Step Test best identified non-fallers (75—93%).
Conclusions: In clinical practice, looking at the use of walking aids, investigating proprioception and spasticity, rating Expanded Disability Status Score and using Berg Balance Scale or Timed Up and Go cognitive all contribute when identifying fallers.
To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD).
The authors performed a genome-wide linkage analysis of a four-generation, 50-member Scandinavian ...family in which five individuals were diagnosed with ALS and nine with FTD. Linkage calculations assuming autosomal dominant inheritance of a single neurodegenerative disease manifesting as either ALS or FTD with age-dependent penetrance were performed. Further analyses for ALS alone and FTD alone were performed. A parametric logarithm of odds (lod) score of 2.0 or greater was required for further study of a potential locus and crossover (haplotype) analysis.
A new ALS-FTD locus was identified between markers D9s1870 and D9s1791 on human chromosome 9p21.3-p13.3. A maximum multipoint lod score of 3.00 was obtained between markers D9s1121 and D9s2154. Crossover analysis indicates this region covers approximately 21.8 cM, or 14Mb.
A locus on chromosome 9p21.3-p13.3 is linked to ALS-FTD.
To carry out an integrated and stratified meta-analysis on occupational exposure to electromagnetic fields (EMFs), metals and pesticides and its effects on amyotrophic lateral sclerosis (ALS) and ...Parkinson's and Alzheimer's disease, and investigate the possibility of publication bias.
: In the current study, we updated our recently published meta-analyses on occupational exposures in relation to ALS, Alzheimer's and Parkinson's disease. Based on 66 original publications of good scientific epidemiological standard, according to the Meta-analysis of Observational Studies in Epidemiology (MOOSE) and the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) guidelines, we analysed subgroups by carrying out stratified meta-analyses on publication year, statistical precision of the relative risk (RR) estimates, inspection of the funnel plots and test of bias.
: Based on 19 studies the weighted RR for occupational exposure to EMFs was 1.26 (95% confidence interval (CI) 1.07⁻1.50) for ALS, 1.33 (95% CI 1.07⁻1.64) for Alzheimer's disease and 1.02 (95% CI 0.83⁻1.26) for Parkinson's disease. Thirty-one studies concerned occupational exposure to pesticides and the weighted RR was 1.35 (95% CI 1.02⁻1.79) for ALS, 1.50 (95% CI 0.98⁻2.29) for Alzheimer's disease and 1.66 (95% CI 1.42⁻1.94) for Parkinson's disease. Finally, 14 studies concerned occupational exposure to metals and only exposure to lead (five studies) involved an elevated risk for ALS or Parkinson's disease and the weighted RR was 1.57 (95% CI 1.11⁻2.20). The weighted RR for all the non-lead exposures was 0.97 (95% CI 0.88⁻1.06).
: Exposure to pesticides increased the risk of getting the mentioned neurodegenerative diseases by at least 50%. Exposure to lead was only studied for ALS and Parkinson's disease and involved 50% increased risk. Occupational exposure to EMFs seemed to involve some 10% increase in risk for ALS and Alzheimer's disease only.
Objectives We conducted a systematic literature review to identify studies fulfilling good scientific epidemiological standards for use in meta-analyses of relevant risk factors for Parkinson's ...disease. Methods Our search identified 103 original publications on associations between work and Parkinson's disease. GRADE guidelines were used to ensure high scientific quality, and reliable guidelines were applied to classify the papers. Of the 103 articles, 47 fulfilled good scientific standards while 56 were methodologically deficient and thus excluded from our meta-analyses. Results A total of 23 publications concerned work exposure to pesticides. The weighted relative risk estimate was 1.67 (95% confidence interval 1.42-1.97). A funnel plot and bias test indicated that some publication bias concerning smaller studies might have been present. The risk estimate was not influenced by study design (case- control, cohort, or cross-sectional study) or gender. Higher estimates were found when there was a hereditary taint or onset below age 60. Studies on exposure to metals or electromagnetic fields did not show increased risk. Conclusions Using an elaborated quality protocol, there is now strong evidence that exposure to any pesticide involves a ≥50% increased risk for developing Parkinson's disease.
Objectives: The aims of this study were to describe the quality of life in patients with multiple sclerosis (MS) given immunological treatment and in those not given immunological treatment and to ...investigate the relationship between impairment and quality of life. Methods: Twenty nine patients given immunological treatment were matched with the same number of patients not given such treatment. Matching variables were sex, Kurtzke’s Expanded Disability Status Scale (EDSS), years since diagnosis, and age (total n = 58). The patients were interviewed using the self-reported impairment checklist and they answered two questionnaires on quality of life, the 36-Item Short-Form Health Survey (SF-36) and the Subjective Estimation of Quality of Life (SQoL). Results: The self-reported impairment checklist captured a more differentiated picture of the patients’ symptoms of MS than the EDSS. Health related quality of life was markedly reduced, while the subjective quality of life was less affected. There was a stronger association between self-reported ratings of impairment and health related quality of life on the SF-36 than between impairment and global ratings of quality of life on the SQoL. Subjective quality of life on the SQoL was not directly dependent on impairment expressed in physical limitations. There were no statistically significant differences between the treated and untreated groups. A non-significant trend towards better health related quality of life was found in favour of the treated group with respect to emotional role, physical role, and social function on the SF-36. Conclusions: The self-reported impairment checklist and SF-36 proved to be valuable complements to the well established EDSS in describing the diverse symptoms of MS. Measuring both health related quality of life and subjective wellbeing provides valuable knowledge about the consequences of MS.
We conducted a systematic literature review to identify studies fulfilling good scientific epidemiological standards for use in meta-analyses of occupational risk factors for amyotrophic lateral ...sclerosis (ALS).
: We identified 79 original publications on associations between work and ALS. The MOOSE (Meta-analysis Of Observational Studies in Epidemiology) and GRADE (Grading of Recommendations, Assessment, Development and Evaluations) guidelines were used to ensure high scientific quality, and reliable protocols were applied to classify the articles. Thirty-seven articles fulfilled good scientific standards, while 42 were methodologically deficient and thus were excluded from our meta-analyses.
: The weighted relative risks for the various occupational exposures were respectively; 1.29 (95% confidence interval (CI): 0.97⁻1.72; six articles) for heavy physical work, 3.98 (95% CI: 2.04⁻7.77; three articles) for professional sports, 1.45 (95% CI: 1.07⁻1.96; six articles) for metals, 1.19 (95% CI: 1.07⁻1.33; 10 articles) for chemicals, 1.18 (95% CI: 1.07⁻1.31; 16 articles) for electromagnetic fields or working with electricity, and 1.18 (95% CI: 1.05⁻1.34; four articles) for working as a nurse or physician.
: Meta-analyses based only on epidemiologic publications of good scientific quality show that the risk of ALS is statistically significantly elevated for occupational exposures to excessive physical work, chemicals (especially pesticides), metals (especially lead), and possibly also to electromagnetic fields and health care work. These results are not explained by publication bias.
Objective: To follow-up lung function and airway symptoms in workers exposed to cobalt dust at a hard metal plant. Methods: A total of 582 employees underwent spirometry and completed a ...questionnaire. A historical exposure matrix was created, assigning figures for historical and recent work-related exposure. Results: At the time of employment, 5% reported symptoms from respiratory tract. At follow-up, 5% suffered from persistent coughing and 7% reported asthma; 20% were daily smokers. Among nonsmokers without asthma, an evident, statistically nonsignificant, dose-response effect was seen between increasing cobalt exposure and decline in FEV₁ (forced expiratory volume in the first second). In all exposure categories, the FEV1 in smokers declined 10 mL more per year than for nonsmokers. Conclusions: Even low levels of cobalt exposure seem to hamper lung function both in smokers and nonsmokers. This impact is considered low in relation to the effect of aging.
Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of ...31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carriers have 24% less white matter (WM) volume (β = -2.1SD, P = 5.1 × 10
), 47% less corpus callosum (CC) volume (β = -2.4SD, P = 5.5 × 10
) and lower brain-wide fractional anisotropy (P = 6.7 × 10
). In summary, we show that loss of MAP1B function affects general cognitive ability through a profound, brain-wide WM deficit with likely disordered or compromised axons.
Particle mixing and irrigation of the seabed by benthic fauna (bioturbation) have major impacts on ecosystem functions such as remineralization of organic matter and sediment-water exchange. As a ...tribute to Prof. Gaston Desrosiers by the Nereis Park association, eighteen laboratories carried out a collaborative experiment to acquire a global snapshot of particle reworking by the polychaete Hediste diversicolor at 16 sites surrounding the Northern Atlantic. Organisms and soft sediments were collected during May – July at different geographical locations and, using a common laboratory protocol, particulate fluorescent tracers (‘luminophores’) were used to quantify particle transport over a 10-day period. Particle mixing was quantified using the maximum penetration depth of tracers (MPD), particle diffusive coefficients (Db), and non-local transport coefficients (r). Non-local coefficients (reflecting centimeter scale transport steps) ranged from 0.4 to 15 yr−1, and were not correlated across sites with any measured biological (biomass, biovolume) or environmental parameters (temperature, grain size, organic matter). Maximum penetration depths (MPD) averaged ~10.7 cm (6.5–14.5 cm), and were similar to the global average bioturbation depth inferred from short-lived radiochemical tracers. MPD was also not correlated with measures of size (individual biomass), but increased with grain size and decreased with temperature. Biodiffusion (Db) correlated inversely with individual biomass (size) and directly with temperature over the environmental range (Q10 ~ 1.7; 5–21 °C). The transport data were comparable in magnitude to rates reported for localized H. diversicolor populations of similar size, and confirmed some but not all correlations between sediment reworking and biological and environmental variables found in previous studies. The results imply that measures of particle reworking activities of a species from a single location can be generally extrapolated to different populations at similar conditions.
•Tribute to Gaston Desrosiers•International collaborative work covering the Northern Atlantic zone•Experimental quantification of particle reworking by Hediste diversicolor•Biological (biomass) and environmental (grain size, temperature) factors influence the intensity of particle reworking
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