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J Med Genet ; 2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34544842


BACKGROUND: A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers. METHODS: A total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed. FINDINGS: 155 patients, including 26 (40.6%) FALS and 129 (8.5%) SALS, carrying rare pathogenic/likely pathogenic (P/LP) variants of ALS causative genes were identified. SOD1 was the most common mutated gene, followed by C9orf72, FUS, NEK1, TARDBP and TBK1. By burden analysis, rare variants in SOD1, FUS and TARDBP contributed to the collective risk for ALS (p<2.5e-6) at the gene level, but at the allelic level TARDBP p.Gly294Val and FUS p.Arg521Cys and p.Arg521His were the most important single variants causing ALS. Clinically, P/LP variants in TARDBP and C9orf72 were associated with poor prognosis, in FUS linked with younger age of onset, and C9orf72 repeats tended to affect cognition. CONCLUSIONS: Our data provide essential information for understanding the genetic and clinical features of ALS in China and for optimal design of genetic testing and evaluation of disease prognosis.

J Hazard Mater ; 416: 125783, 2021 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-33839503


In order to investigate the explosion process of calcium carbide (CaC2) dust in the acetylene (C2H2) atmosphere, the explosion characteristics of C2H2 gas and C2H2/CaC2 dust gas-solid two-phase mixture were studied using a 20-L spherical vessel, and the chemical composition of solid residues after explosion were also analyzed. Experimental results showed that the Pex values of C2H2 gas explosion rose first and then remained stable with the increasing stoichiometric ratio values (φ) of C2H2/air, while the (dP/dt)ex values tended to increase at early stage and then decrease, the inflection point of (dP/dt)ex values was φ = 1.78. The explosion severity and risk of C2H2 gas were enhanced by adding CaC2 dust, and the optimum additive concentration of CaC2 dust was 100 g/m3. In the oxygen atmosphere, the C2H2/CaC2 hybrid explosion was divided into two stages when the concentration of CaC2 dust was over 300 g/m3. The explosion risk of the first stage (Stage Ⅰ) was much more serious, while the explosion severity of the second stage (Stage Ⅱ) was much more fierce. The solid residues of hybrid explosion only contained CaO in the oxygen atmosphere, however, Ca(OH)2 and CaO were detected in the solid residues in the air atmosphere, owing to the combustion heat of C2H2 gas in oxygen was higher than that in air. The hydrolysis reaction time of CaC2 particle with large particle size was prolonged, and the diffusion of solid product layer and surface chemical reaction both influenced the hydrolysis process according to the shrinking core model. Based on the explosion and chemical analysis experiments, the explosion mechanism of C2H2/CaC2 dust gas-solid two-phase mixture was analyzed systematically.

Sichuan Da Xue Xue Bao Yi Xue Ban ; 50(1): 77-82, 2019 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-31037909


OBJECTIVE: To compare the predictive value of different measures of obesity for metabolic syndrome (MetS) in adult Yi and Han nationality population. METHODS: A total of 3 492 urban and rural residents in Chengdu and Liangshan Yi Autonomous Prefecture participated in this study. Demographic and laboratory data were collected. Spearman correlation analysis was used to investigate the relationship between different obesity measurement indexes and MetS. Receiver operating characteristic (ROC) curve was used to compare the predictive value between different obesity measurement indexes. RESULTS: Spearman correlation analysis showed that MetS was related to body mass index (BMI), waist circumference (WC), waist-to-hip ratio (WHR), waist-to-height ratio (WHtR), lipid accumulation index (LAP) and visceral adiposity index (VAI). The ROC curve showed that the LAP had the highest predictive value for MetS in both Yi and Han male adults, area under the curves (AUCs) >0.90; whereas WHR had the lowest predictive value. WHtR had high predictive value for MetS in both Yi and Han female adults (AUCs >0.88), VAI had the worst predictive value. CONCLUSION: Among different measures of obesity, LAP may have the optimal predictive value for MetS in male adults as do WHtR in female adults either in Yi or Han nationality. These findings should be confirmed through the measure of visceral fat volume and prospective study.

Síndrome Metabólica , Adulto , Índice de Massa Corporal , Estudos Transversais , Grupos Étnicos , Feminino , Humanos , Masculino , Obesidade , Estudos Prospectivos , Curva ROC , Fatores de Risco , Circunferência da Cintura , Relação Cintura-Quadril
Sichuan Da Xue Xue Bao Yi Xue Ban ; 48(3): 441-445, 2017 May.
Artigo em Chinês | MEDLINE | ID: mdl-28616922


OBJECTIVES: To compare the clinical characteristics and prevalence of chronic complications in type 2 diabetes mellitus (T2DM) patients with various degrees of obstructive sleep apnea syndrome (OSAS). METHODS: A total of 170 patients with T2DM and OSAS were enrolled in this study. These participants were divided into three groups with low, medium and high apnea-hypopnea index (AHI), respectively. The demographic characteristics, biochemical indicators and chronic complications of the patients in the three groups were compared. Multivariate Logistic regression analysis was performed to determine the associations between chronic complications and OSAS. RESULTS: The patients with severe OSAS had higher waist circumference (P=0.045), higher BMI (P=0.069), higher prevalence of diabetic peripheral neuropathy (DPN), and higher prevalence of diabetic retinopathy (DR) than the patients with mild-moderate OSAS. Similar levels of macrovascular complications were found in the three groups (P>0.05). The logistic regression analyses showed that DPN (OR=1.024, 95%CI 1.002-1.046) and chronic kidney disease (OR=1.026, 95%CI 1.004-1.049) were independent predictors of AHI, adjusting for the lowest oxygen saturation, gender, age, diabetic duration, family history of diabetes, BMI, and HbA1c. Other microvascular and macrovascular complications were not predictors of AHI. CONCLUSIONS: Patients with T2DM and severe OSAS have a higher risk of DPN and DR. Particular attention should be paid to T2DM patients with severe OSAS to prevent complications.

Diabetes Mellitus Tipo 2/patologia , Apneia Obstrutiva do Sono/patologia , Diabetes Mellitus Tipo 2/complicações , Neuropatias Diabéticas/complicações , Retinopatia Diabética/complicações , Humanos , Modelos Logísticos , Análise Multivariada , Prevalência , Fatores de Risco , Apneia Obstrutiva do Sono/complicações , Circunferência da Cintura