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1.
Objective: To explore the relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), the central enzymes in folate metabolism that affects DNA methylation and synthesis, and the risk of Down syndrome in China. Methods: Genomic DNA was isolated from the peripheral lymphocytes of 64 mothers of children with Down syndrome and 70 age matched control subjects. Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTHFR 677C→T, MTRR 66A→G and the relationship between these genotypes and the risk of Down syndrome was analyzed. Results: The results show that the MTHFR 677C→T polymorphism is more prevalent among mothers of children with Down syndrome than among control mothers, with an odds ratio of 3.78 (95% confidence interval (CI), 1.78-8.47). In addition, the homozygous MTRR 66A→G polymorphism was independently associated with a 5.2-fold increase in estimated risk (95% CI, 1.90-14.22). The combined presence of both polymorphisms was associated with a greater risk of Down syndrome than the presence of either alone, with an odds ratio of 6.0 (95% CI, 2.058-17.496). The two polymorphisms appear to act without a multiplicative interaction. Conclusion: MTHFR and MTRR gene mutation alleles are related to Down syndrome, and CT, TT and GG gene mutation types increase the risk of Down syndrome.  相似文献   

2.
The prevalence and risk factors of sick building syndrome(SBS)symptoms in domestic environments were studied by a questionnaire survey on the home environment.Parents of 5299 3–6 years old children from randomly selected kindergartens in Chongqing,China returned completed questionnaires between December 2010 and April 2011.The prevalence of parents’SBS symptoms(often(every week)compared with never)were:11.4%for general symptoms,7.1%for mucosal symptoms and 4.4%for skin symptoms.Multiple logistic regressions were applied controlling for gender and asthma/allergic rhinitis/eczema.Living near a main road or highway was a strong risk factor for general symptoms(adjusted odds ratio,aOR=2.16,P<0.001),skin symptoms(aOR=2.69,P<0.001),and mucosal symptoms(aOR=1.63,P<0.01).Redecoration was a risk factor for general symptoms(aOR=2.00,P<0.001),skin symptoms(aOR=1.66,P<0.01),and mucosal symptoms(aOR=1.66,P<0.05).New furniture was a risk factor for general symptoms(aOR=2.16,P<0.001)and skin symptoms(aOR=1.67,P<0.01).Dampness related problems(mould spot,damp stain,water damage and condensation)were all risk factors for SBS symptoms,as was the presence of cockroaches,rats,and mosquitoes/flies and use of incense.Protective factors include cleaning the child’s bedroom every day and frequently exposing bedding to sunshine.In conclusion,adults’SBS symptoms were related to factors of the home environment.  相似文献   

3.
In order to evaluate the perceived home indoor air quality, as well as sick building syndrome (SBS) in areas with typical arid continental climate such as Urumqi, northwest of China, a cross-sectional study including 4,260 parents of children (1-8 years) was performed by a ques- tionnaire survey in winter season in 2011. The sensation of air dryness (weekly/sometimes) in the last 3 months had the highest proportion of reports by more than half of the parents (57.4 %), followed by perceived stuffy odor (40.6 %), unpleasant odor (27.0 %), tobacco smoke odor (25.5 %), sensation of humid air (17.9 %), pungent odor (11.7 %) and moldy odor (9.5 %), respectively. The prevalence of SBS symptoms in the same time period was 40.4 % for general symptom, 47.7 % for mucosal symptom and 9.5 % for skin symptom, respectively. There were significant associations between perceived odors/sensation of air dryness and SBS symptoms (ORs range 1.39-1.42). Additionally, the OR values increased with an increase of the OH score (P 〈 0.05). Dampness, the presence of cockroaches and mosquitoes/flies, prenatal exposure to decoration and close to traffic were all risk factors of SBS symptoms. However, frequently putting bedding to sun- shine was potentially a protective factor. In conclusion, adults' perceptions of odors and sensation of air dryness are related to SBS symptoms and home environmental factors in Urumqi, China.  相似文献   

4.
Melkersson-Rosenthal综合征3例临床分析   总被引:1,自引:0,他引:1  
Melkersson-Rosenthal综合征,是一种罕见的神经,皮肤粘膜综合征,临床以间歇性面瘫,再发性唇面肿胀及皱襞舌为三主症,激素治疗有显著疗效,但国内报道极少,早期诊断困难,易被诊,本文报道我院近十年来收治的3例完全型MRS病人及随访资料,结合国内外文献,就其病因,发病机制,临床特征及近年来研究进展进行分析,认为该病发病机理可能与免疫功能异常所致组织炎性肉芽肿有关。  相似文献   

5.
Kennet W 《Nature》1971,233(5319):433
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6.
Quasi morphine-abstinence syndrome   总被引:6,自引:0,他引:6  
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7.
Maddox J 《Nature》1971,233(5314):15-16
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8.
Cyranoski D 《Nature》2008,454(7203):384-387
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9.
《Nature》2000,407(6806):819
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10.
J Fabia 《Nature》1969,221(5186):1157-1158
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11.
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13.
《Nature》1971,233(5314):4
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14.
15.
阻塞性睡眠呼吸暂停综合症的观察及护理   总被引:5,自引:0,他引:5  
通过对55例阻塞性睡眠呼吸暂停综合症患者术前、术后的护理及观察,总结了护理体会,着重对术前、术后健康教育及心理、术后伤口出血情况,气管切开护理,咽部水肿,饮食及口腔清洁,并发症观察护理进行了总结,并通过术前,术后血氧饱和度、呼吸、心率的监测,总结了阻塞性睡眠呼吸暂停综合症患者的手术疗效。  相似文献   

16.
P R Burch 《Nature》1969,221(5176):173-175
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17.
随着社会的发展和人们生活方式的改变,代谢综合症(MS)从1999年命名至今,发病率逐年升高。MS会并发T2DM、心血管疾病、肥胖等疾病,严重影响人们的生活质量甚至危及生命。MS治疗的基本策略是以改善IR为基础的心血管危险因素的综合防治。包括生活方式干预、饮食控制和运动治疗,无效时考虑药物治疗。运动作为MS的重要干预手段,对MS有着显著的影响,本文就MS与运动之间的关系做一综述。  相似文献   

18.
Abdominal obesity and metabolic syndrome   总被引:2,自引:0,他引:2  
Després JP  Lemieux I 《Nature》2006,444(7121):881-887
Metabolic syndrome is associated with abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. Proposed criteria for identifying patients with metabolic syndrome have contributed greatly to preventive medicine, but the value of metabolic syndrome as a scientific concept remains controversial. The presence of metabolic syndrome alone cannot predict global cardiovascular disease risk. But abdominal obesity - the most prevalent manifestation of metabolic syndrome - is a marker of 'dysfunctional adipose tissue', and is of central importance in clinical diagnosis. Better risk assessment algorithms are needed to quantify diabetes and cardiovascular disease risk on a global scale.  相似文献   

19.
The defect in Marfan syndrome   总被引:4,自引:0,他引:4  
V A McKusick 《Nature》1991,352(6333):279-281
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20.
Meiotic chromosomes in Klinefelter's syndrome   总被引:7,自引:0,他引:7  
N E Skakkebaek  J Philip  R Hammen 《Nature》1969,221(5185):1075-1076
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