Recent genetic discoveries have dramatically changed our understanding of two major neurodegenerative conditions. Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are common, devastating diseases of the brain. For decades, ALS and FTD were classified as movement and cognitive disorders, respectively, due to their distinct clinical phenotypes. The recent identification of chromosome 9 open reading frame 72 (C9orf72) as the major gene causative of familial forms of ALS and FTD uncovered a new reality of a continuous FTD/ALS spectrum. The finding that up to 50% of all patients present some degree of ALS and FTD phenotypes supports this ALS/FTD continuum. Now >100 genes are known to contribute to ALS/FTD, with a few major contributors that are reviewed below. The low penetrance of C9orf72 mutations, its contribution to sporadic cases, and its combination with other genes support an oligogenic model where two or more genes contribute to disease risk, onset, progression and phenotype: from 'pure' ALS or FTD to combined ALS/ FTD. These advances in the genetics of ALS/FTD will soon lead to a better mechanistic understanding of the pathobiology of the disease, which should result in the development of effective therapies in the near future.
Background and purposeThe data concerning the association between environmental pollution and epilepsy attacks are limited. The aim of this study was to explore the association between acute air pollution exposure and epilepsy attack.MethodsA hospital record-based study was carried out in Xi’an, a heavily-polluted metropolis in China. Daily baseline data were obtained. Time-series Poisson regression models were applied to analyze the association between air pollution and epilepsy.ResultsA 10 μg/m3 increase of NO2, SO2, and O3 concentrations corresponded to 3.17% (95%Cl: 1.41%, 4.93%), 3.55% (95%Cl: 1.93%, 5.18%), and -0.84% (95%Cl: -1.58%, 0.09%) increase in outpatient-visits for epilepsy on the concurrent days, which were significantly influenced by sex and age. The effects of NO2 and SO2 would be stronger when adjusted for PM2.5. As for O3, a -1.14% (95%Cl: -1.90%, -0.39%) decrease was evidenced when adjusted for NO2. The lag models showed that the most significant effects were evidenced on concurrent days.ConclusionsWe discovered previously undocumented relationships between short-term air pollution exposure and epilepsy: while NO2 and SO2 were positively associated with outpatient-visits of epilepsy, O3 might be associated with reduced risk.
BackgroundTo describe the prevalence of alcohol dependence and to explore the relationship between alcohol dependence and newly detected hypertension in China.MethodsA multistage stratified cluster sampling method was used to obtain samples from February to June 2013. The Michigan Alcoholism Screening Test was used to estimate alcohol dependence level. A standard questionnaire measured other independent variables. Enumeration data were analyzed using chi-square; quantitative data were analyzed using t-tests. Spearman correlation analysis and multivariate logistic regression analysis were performed to identify the relationship between alcohol dependence and hypertension.ResultsThe alcohol dependence rate was 11.56%; 22.02% of males (3854/17501) and 1.74% of females (324/18656) were classified as alcohol dependent. The newly detected hypertension rate was 9.46% (3422/36157). Significant associations were found between alcohol dependence levels and blood pressure (P < 0.01). Alcohol dependence was positively correlated with systolic blood pressure (r = 0.071, P < 0.01) and diastolic blood pressure (r = 0.077, P < 0.01) and was an independent risk factor for hypertension after adjusting for confounders (low alcohol dependence: odds ratio [OR] = 1.44, 95% confidence intervals [CI] = 1.14–1.81, P < 0.01; light alcohol dependence: OR = 1.35, 95% CI = 1.11–1.64, P < 0.01; medium alcohol dependence: OR = 1.83, 95% CI = 1.40–2.41, P < 0.01).ConclusionAlcohol dependence was high and associated with hypertension. Health education and precautions against alcoholism should be implemented in Xuzhou city.
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