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101.

Background

Autism spectrum disorder (ASD) has both genetic and environmental origins, including potentially maternal effects. Maternal effects describe the association of one or more maternal phenotypes with liability to ASD in progeny that are independent of maternally transmitted risk alleles. While maternal effects could play an important role, consistent with association to maternal traits such as immune status, no study has estimated maternal, additive genetic, and environmental effects in ASD.

Methods

Using a population-based sample consisting of all children born in Sweden from 1998 to 2007 and their relatives, we fitted statistical models to family data to estimate the variance in ASD liability originating from maternal, additive genetic, and shared environmental effects. We calculated sibling and cousin family recurrence risk ratio as a direct measure of familial, genetic, and environmental risk factors and repeated the calculations on diagnostic subgroups, specifically autistic disorder (AD) and spectrum disorder (SD), which included Asperger’s syndrome and/or pervasive developmental disorder not otherwise specified.

Results

The sample consisted of 776,212 children of whom 11,231 had a diagnosis of ASD: 4554 with AD, 6677 with SD. We found support for large additive genetic contribution to liability; heritability (95% confidence interval [CI]) was estimated to 84.8% (95% CI: 73.1–87.3) for ASD, 79.6% (95% CI: 61.2–85.1) for AD, and 76.4% (95% CI: 63.0–82.5) for SD.

Conclusions

There was modest, if any, contribution of maternal effects to liability for ASD, including subtypes AD and SD, and there was no support for shared environmental effects. These results show liability to ASD arises largely from additive genetic variation.  相似文献   
102.
103.
[目的]探讨小腿毛细血管血糖值监测的可行性.[方法]用利舒坦血糖仪对门诊糖尿病病人同步测定空腹及餐后2 h小腿毛细血管血糖、指尖毛细血管血糖,并与用全自动生化仪测定的静脉血浆血糖值做比较.[结果]空腹及餐后2 h小腿毛细血管血糖值、指尖毛细血管血糖与静脉血浆血糖值比较,差异无统计学意义;空腹及餐后2 h静脉血浆血糖、指尖毛细血管血糖、小腿毛细血管血糖值3组相关性良好,r值均在0.990以上,P<0.01.[结论]小腿毛细血管血糖监测能精确反映糖尿病病人空腹及餐后2 h血糖,且腿部疼痛轻,病人依从性高.  相似文献   
104.
目的探讨重度癌痛患者拒绝翻身的原因,并提出相应的护理对策。方法对81例重度癌痛患者采取问卷调查法,了解癌痛患者拒绝翻身的原因。结果患者疼痛、护士翻身的技术及责任心、家属的支持度是影响癌痛患者翻身的原因。结论给予晚期癌症患者控制疼痛,加强护士责任心,取得家属的支持是促进患者配合翻身工作的有效途径。  相似文献   
105.
外伤患者的心理特点与护理   总被引:1,自引:0,他引:1  
目的了解外伤患者的心理特点,提出相应的心理护理对策。方法采用问卷调查方式对急诊及住院的部分外伤患者进行心理测验。结果外伤患者均存在不同程度的心理障碍,其中以焦虑和恐惧心理占较高比例。结论必须重视外伤患者的心理问题。对外伤病人不同的心理状态,采取有针对性的心理护理措施方能取得满意的临床效果。  相似文献   
106.
PURPOSE: Eotaxin, a CC-chemokine with selective chemotactic effects for eosinophils, has been reported to play an important role in allergic conjunctival diseases. We previously reported that eotaxin is produced by conjunctival fibroblasts and keratocytes on stimulation with Th2 cytokines. Tranilast is known to have anti-allergic properties. In this study, we examined the inhibitory effect of tranilast, an anti-allergic drug, on eotaxin-1 production from cultured conjunctival fibroblasts. METHODS:Conjunctival fibroblasts obtained from normal patients were cultured in DMEM/F12 medium. On the fifth passage, the cells were transferred to a 96-well plate and, after starvation for 24 hr, TNF-alpha, IL-4, and tranilast or dexamethasone were added. After 48 hr, the concentrations of eotaxin-1 in the supernatants were measured by ELISA, and the cells were tested for eotaxin-1 expression by real-time PCR. RESULTS:Eotaxin-1 production was observed on simultaneous stimulation with TNF-alpha and IL-4. This production was inhibited by both tranilast and dexamethasone. Inhibition of eotaxin-1 expression was also observed by real-time PCR. CONCLUSIONS: Eotaxin-1 production from conjunctival fibroblasts was inhibited by both tranilast and dexamethasone. These results suggest that the anti-allergic effect of tranilast may be partly due to the inhibition of eotaxin-1 production from conjunctival fibroblasts.  相似文献   
107.
BACKGROUND: Previous smaller studies suggest that age, gender, and duration of acne may individually be associated with clinical acne severity and quality of life (QoL) impact. OBJECTIVE: Our purpose was to concurrently evaluate the association of demographic factors with clinical acne severity and with QoL impact. METHODS: Clinical acne severity was assessed using the Investigators Global Assessment, whereas QoL impact was evaluated by the patient-completed Acne-QoL. These outcomes were correlated with sociodemographic variables, including age, gender, and duration of acne. RESULTS: In 862 acne patients, clinical severity was associated with younger age, male gender, and shorter acne duration (1-5 years). In contrast, greater impact on QoL was associated with older age, female gender, and longer acne duration (> 5 years). CONCLUSIONS: Clinical and QoL measures each differentiate between groups of patients most severely affected by acne. Our findings reinforce the imperative for clinicians to use both measures for comprehensive patient management. LIMITATIONS: Study limitations include referral population of acne patients and the restriction of outcome measures to facial acne.  相似文献   
108.
109.
目的:分离培养人皮肤毛细淋巴管内皮细胞(LECs),为进一步研究淋巴管生成在肿瘤转移扩散中的作用奠定基础.方法:采用胶原酶消化皮肤组织,血管内皮生长因子受体-3(VEG-FR-3)免疫微珠进行细胞分选,克隆柱纯化细胞.显微镜观察细胞形态及结构,免疫荧光检测细胞标志物表达.测定细胞生长曲线及VEGF-C蛋白对细胞生长的影响.结果:光镜下LECs呈卵圆形单层生长,有典型铺路石征;电镜下可见细胞核大,胞浆丰富,内有空泡,细胞器丰富;LECs标志物VEFGR-3、淋巴管内皮细胞透明质酸受体-1(LYVE-1)、肾小球上皮细胞整合膜蛋白(Po-doplanin)、D2-40均为阳性表达,血管内皮细胞(BVECs)标志物VIII因子表达阴性;VEGF-C对LECs的促增殖作用明显.结论:联合使用酶消、抗体磁珠分选和细胞克隆柱纯化法,可以成功分离获得人毛细淋巴管内皮细胞.  相似文献   
110.
结核专科急诊抢救病例226例临床分析   总被引:1,自引:1,他引:0  
目的 了解结核专科医院急诊抢救病例的临床特点,提供培训依据。方法 选取我院2004年1月-2005年12月急诊抢救室收治的急危重患者226例进行回顾性分析。结果 226例患者中男168例,女58例;年龄1—90岁,其中≤20岁18例,≥60岁85例。抢救病因为:循环系统方面50例;呼吸系统方面133例(其中大咯血34例,张力性气胸40例等);中枢神经系统疾病12例;中毒及其他系统疾病31例。基础病变为结核病的162例。结论结核急诊抢救病例临床特点为:1.病例分布各个年龄组,以中老年患者多见;2.病因以结核急症多见占71.7%,另涉及循环、呼吸、中枢神经等多个系统。因此,结核专科急诊要提高应急救治能力,要向全科方面发展。  相似文献   
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