抗精神分裂症药物诱发迟发性运动障碍与COMT基因多态性的关联性分析

目的:通过分析中国北方汉族人群中精神分裂症患者COMT基因多态性Val158Met 分布,研究COMT基因多态性与精神分裂症及迟发性运动障碍(TD)发生的关系.方法:采集356例并发TD的精神分裂症患者( TD组)、419例不发生TD的精神分裂症患者(非TD组)及471例正常健康人 (正常对照组)的全血样本,提取基因组DNA,应用TaqMan探针检测COMT基因多态性Val158Met基因型和等位基因的分布.结果:正常对照组与精神分裂症组比较,基因型与等位基因频数分布差异均无统计学意义(χ2=3.08,df=3,P=0.21;χ2=2.067,df=2,P=0.15).TD组与正常对照组比较,基因型与等位基因频数分布差异均无统计学意义(χ2=1.857,df=3,P=0.40;χ2 =1.281,df=2,P=0.26).非TD组与正常对照组比较,基因型与等位基因频数分布差异均无统计学意义(χ2=2.505,df=3,P=0.29;χ2=1.709,df=2,P=0.19).TD组与非TD组比较,基因型与等位基因频数分布差异均无统计学意义(χ2=0.021,df=3,P=0.99;χ2=0.013,df=2,P=0.91).结论:精神分裂症的发生与COMT基因多态性Val158Met无关联性,精神分裂症患者并发TD与COMT基因多态性Val158Met无关联性.     

Tim-3基因4个SNP位点多态性与宁夏地区回族人群类风湿性关节炎易感性的关联性分析

目的:探讨宁夏地区回族人群中Tim-3基因4个单核苷酸多态性(SNP)位点多态性与类风湿性关节炎(RA)易感性的关联性,为RA的早期预防提供理论依据.方法:采用序列特异性引物聚合酶链式反应(SSP-PCR)及限制性片段长度多态性(PCR-RFLP)2种方法检测113例RA患者及111例健康个体Tim-3基因-574、-882、-1541和4259共4个位点的单核苷酸多态性.结果:宁夏回族健康人群和RA患者中,Tim-3基因-574、-882、-1541基因型频数和等位基因频数的分布差异均无统计学意义(P>0.05),4259位点基因型和等位基因频数分布差异有统计学意义(P<0.05),RA患者组G等位基因频数(6.36%)显著高于健康组(1.58%).结论:宁夏回族人群Tim-3基因-574、-882、-1541和4259位点存在单核苷酸多态性变异,其中4259T>G的变异与宁夏回族人群RA发生有关.     

雄激素受体基因E211G》A多态性与汉族女性青春期后痤疮的关联性分析

目的:探讨雄激素受体(AR)基因E211 G>A单核苷酸多态性与汉族女性青春期后痤疮的关联性,为汉族女性青春期后痤疮发病遗传学研究奠定基础.方法:将女性青春期后痤疮患者79例和正常女性志愿者80例分为女性青春期后痤疮组和女性正常对照组,采用PCR技术扩增出AR-E211 G>A基因多态位点的片段,用限制性内切酶StuⅠ进行酶切,产物在2%琼脂糖凝胶上电泳,确定G>A基因的3种基因型,即GG、GA、AA,观察两组基因型频数和等位基因型频数分布的差异.结果:女性青春期后痤疮组GA+AA基因型频数低于对照组(P=0.028,OR=0.937,95% CI=0.885～0.992).女性青春期后痤疮组A等位基因频数低于对照组(P=0.029,OR=0.968,95% CI=0.941～0.996).结论:AR-E211 A等位基因的存在使青春期后女性患痤疮的风险性明显降低.     

抵抗素-420C/G基因多态性与中国东北地区汉族人群2型糖尿病大血管病变相关性分析

目的:研究中国东北地区汉族人群抵抗素(RETN)-420C/G基因单核苷酸多态性(SNPs)的等位基因、基因型频率分布及其与2型糖尿病(T2DM)大血管病变之间的关系.方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对180例样本[T2DM并发大血管病变组60例,单纯T2DM组60例,正常对照(ND)组60例],进行基因分型及频率测定.结果:T2DM并发大血管病变组及单纯T2DM组等位基因频率及CC/GC+GG基因型分布与ND组比较差异均有统计学意义(P＜0.01);T2DM并发大血管病变组等位基因频率及CC/GC+GG基因型分布与单纯T2DM组比较差异亦有统计学意义(P<0.05),T2DM并发大血管病变组GC+GG基因型频率明显高于单纯T2DM组.结论:RETN-420C/G基因多态性与中国东北地区汉族人群T2DM及其大血管病变的发生有相关性.     

创优质护理服务对降低开胸手术患者术后并发症的效果研究

目的 探讨创优质护理服务对降低开胸手术后患者并发症的效果.方法 将本院2009年1月～12月创优质护理服务实施前102名开胸手术后患者作为对照组,2010年3月～2011年3月创优质护理服务实施后104名开胸手术后患者作为实验组,观察2组患者术后并症的发生情况.结果 对照组患者开胸手术后并发肺不张7.8%,实验组患者开胸手术后并发肺不张为1.9%,2组差异有统计学意义(χ2=3.91,P＜0.05);对照组患者开胸手术后并发肺部感染39.2%,实验组患者开胸手术后并发肺部感染为20.2%,2组差异有统计学意义(χ2=5.47,P＜0.05).结论 创优质护理服务可以降低开胸手术患者术后并发症的发生率.     

白血病和淋巴瘤患者ABO血型分布及地区性差异分析

目的 探讨ABO血型与白血病、淋巴瘤的相关性和地区性差异.方法 采用病例对照研究方法,调查不同类型白血病、淋巴瘤患者和健康对照组ABO血型分布特征,分析不同地区白血病、淋巴瘤患者的ABO血型分布情况.结果 急性非淋巴细胞白血病、急性淋巴细胞白血病、非霍奇金淋巴瘤患者的ABO血型分布与健康人群分布差异有统计学意义(χ2=21.23、χ2=8.36、χ2=9.39,均P<0.05).国内不同地区的白血病、淋巴瘤ABO血型分布有差异,其中白血病ABO血型分布差异具有统计学意义(χ2=50.65,P<0.05).结论 ABO血型可能是白血病、淋巴瘤的遗传易感因素,但地理因素可能是主要影响因素之一.     

镇痛泵在产科腹腔镜患者中的应用

目的 分析镇痛泵对产科腹腔镜患者镇痛、镇静及对术后排气的影响.方法 对照组产妇(51例)采用单次肌注哌替啶,实验组产妇(56例)使用PCA泵,对比分析2组患者的镇痛、镇静效果及排气情况、并发症等的差异.结果 实验组镇痛优良率(82.1%)优于对照组(χ2=14.523,p=0.000),其镇静满意率亦高于对照组(χ2=7.464,p=0.006);2组患者排气时间小于48h、大于48h者无统计学差异(χ2=1.366,p=0.242);2组患者在尿潴留、恶心呕吐及皮肤瘙痒等不良反应方面无显著差异,但实验组尿路感染发生率(χ2=5.263,p=0.022)及腰骶部红肿硬块的发生(χ2=4.286,p=0.038)显著高于对照组.结论 镇痛泵能有效控制产科手术患者的疼痛,具有明显的镇静效果,但其尿路感染发生率及腰骶部红肿硬块的发生较高,产科护士应积极做好预防工作.     

蛋白磷酸酶2A-Aα亚基基因5'侧翼区多态性在广东汉族人群中的分布

目的:探讨蛋白磷酸酶2A-Aα亚基基因PPP2R1A启动子区的遗传多态性在中国南方汉族人群中的分布特征.方法:随机选取部分广东汉族人群,获取全血基因组DNA.PCR扩增获得PPP2R1A基因5'-侧翼区的目的片段产物直接再测序,筛查并确证潜在的基因多态性位点,采用HaploView软件进行该人群多态性等位基因分布频率的分析、并与HapMap结果进行分布特征比较.结果:PCR扩增和成功测序63例健康人(126条染色体)PPP2R1A基因-1 844～+201 nt的目的片段,序列比对发现该人群中6个已知多态性位点及其人群最小等位基因频率分别为-1 039 G>T(+Ins)(rs10414793,但其中T等位基因型含有29个碱基片段的插入)(8.73%)、-568 G>A(rs1864007)(25.40%)、-241 -/G(rs11453459)(26.90%)、+87 T>C(rs13344984)(7.94%)、+107 -/C(rs3833207)(30.16%)和+108 A>G(rs17554825)(7.94%);且其中2个位点在该人群中的分布与HapMap公布的国外人群数据存在不同(P<0.05);同时,该人群中还发现-512 G>A(2.38%)的潜在新多态性位点.结论:筛查PPPwR1A基因5'-侧翼区在中国广东汉族人群中多态性位点的等位基因分布,为进一步开展多态性功能性分析提供基础.     

三氧化二砷治疗血液病后合并带状疱疹的临床研究

目的 分析三氧化二砷(ATO)治疗血液病后合并带状疱疹感染患者的临床特征及其可能的发生机制.方法 将研究对象分为研究组(应用ATO)和对照组(未应用ATO),观察两组带状疱疹发病率,以及研究组中发生带状疱疹和未发生带状疱疹患者的平均化疗次数.结果 研究组带状疱疹发病率为23.95%(23/96),发生带状疱疹者平均化疗7.60次,未发生带状疱疹者平均化疗7.72次(Z=0.976,P=0.296);对照组带状疱疹发病率7.89%(3/38),两组间带状疱疹发病率差异有统计学意义(χ2=4.492,P=0.034).结论 ATO治疗血液疾病可以增加带状疱疹的发病率,可能与其激活水痘-带状疱疹病毒有关.     

乙酰肝素酶Arg307Lys多态性与成年人急性白血病发病风险的关系

目的 探讨乙酰肝素酶( HPSE) Arg307Lys多态性与成年人急性白血病发病风险的关系。方法按照1:1配对病例对照研究方法,选择中国北方地区100例急性髓系白血病(AML)和25例急性淋巴细胞白血病(ALL)患者为病例组,100名中国北方地区健康人为对照组,采用聚合酶链反应-限制性片段长度多态性( PCR-RFLP)方法检测观察对象外周血HPSE Arg307Lys基因多态性。结果成年ALL病例组和对照组Lys/Lys、Arg/Lys、Arg/Arg基因型分布频率分别为80％、16％、4％和75％、23％、2％,两组比较差异无统计学意义(x2= 0.07,P= 0.79; x2= 0,08,P= 0.78)。AML病例组Lys/Lys、Arg/Lys、Arg/Arg基因型频率分别为85％、14％、1％,与对照组比较差异无统计学意义(x2=3.03,P=0.08;x2=3.15,P=0.08)。携带HPSE Arg307Lys突变基因(AA/AA+AG)的个体不增加AML及ALL的发病风险(AML:x2= 3.13,P=0.07,OR= 1.89,95％CI 0.93～3.83;AL：x 2=0.27,P=0.60,OR= 1.33,95 ％CI 0.45～ 3.90)。结论HPSE Arg307Lys与中国北方地区急性白血病的发生可能无关。     

Voices of fear and anxiety and sadness and depression: The effects of speech rate and loudness on fear and anxiety and sadness and depression.

Two studies investigated the role of expressive vocal behavior (specifically, speech rate and loudness) in fear and anxiety and in sadness and depression. In the 1st study, participants spoke about personally experienced fear and anxiety-arousing and neutral events using 3 different voice styles: fast and loud, normal, and slow and soft. In the 2nd study, participants spoke about personally experienced sad or depressing and neutral events using the same 3 voice styles. In both studies, the participants' highest levels of subjective affective and cardiovascular (CV) arousal occurred when they spoke about the emotional events in a mood-congruent voice style: fast and loud in the case of fear and anxiety, and slow and soft in the case of sadness or depression. Mood-incongruent voice styles canceled the heightened levels of CV arousal normally associated with these negative emotions. The voice-style manipulation had no significant effect on the participants' levels of CV arousal during the neutral discussions. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Sexuality and aging--usual and successful

BACKGROUND: As aging research increasingly reflects an effort to dissociate true time-driven changes from those that can be improved, sexuality in later life remains largely unexplored. Several problems are evident. There is a lack of normative data, a lack of a conceptual framework relating to the biology, psychology, and sociology of sex, and an attitudinal resistance that obscures the entire topic. METHODS: We conducted a three-part instructional series on major topics involved with sexuality and aging. We surveyed our group of attendees (n 158, average age 68 for males, 65 for females) before and after the series. RESULTS: A remarkably robust sex life was evidenced by both the men and the women, even until advanced old age. Yet, a substantially decreased involvement was reported from 10 years earlier. Despite current activities, people of both sexes wished they were participating even more than they currently were. Impotency was identified as the major negative feature for the men; relationship problems were for the women. A questionnaire 6 months after the series reported improved sexual attitudes, but no change in sexual activities from the earlier survey. CONCLUSION: Sexuality is a major quality-of-life issue which persists into old age. Our study showed that the usual sexual practices reported by our group were not considered by them to be ideal. The intervention of this instructional series provided improved sexual attitudes but not performance. Additional studies are encouraged.     

Synthesis and analysis of mixed chlorinated-fluorinated dibenzo-p-dioxins and dibenzofurans and assessment of formation and occurrence of the fluorinated and chlorinated-fluorinated dibenzo-p-dioxins and dibenzofurans

Despite the use of multimodal therapy, higher-grade glioma is still uniformly fatal in the adult population. There is a considerable difference between the length of survival in each given patient, even within the same tumor type and malignancy grade group, suggesting that there are factors that might differentially influence outcome. To identify such factors, 107 patients with anaplastic or malignant glioma were retrospectively investigated. Clinical parameters and paraclinical data on the p53, mdm2, and EGFR genes at the DNA or protein level were evaluated by univariate analysis and Cox proportional hazards regression modeling. Kaplan-Meier survival estimation demonstrated that immunohistochemical positivity for mdm2 protein in patients with anaplastic astrocytoma or with glioblastoma multiforme was associated with a shorter survival time (p = 0.02). P53 gene mutations and immunopositivity for the epidermal growth factor receptor (EGFR) protein were not significantly related to poor prognosis. The Cox proportional hazards model revealed immunohistochemical positivity for p53, mdm2, or for both of them, the presence of postoperative irradiation, and the extent of surgical resection of tumor to be variables significantly associated with prolonged survival. EGFR overexpression, age over 60 years, and Karnofsky performance score below 40 points did not significantly shorten survival time. In conclusion, the present study identified immunohistochemically detected mdm2-protein overexpression as a statistically significant negative prognostic parameter in patients bearing anaplastic or malignant glioma. Association analysis of variables revealed a possible correlation between mdm2 and p53, which is also consistent with the biological interaction mode of both proteins in vivo.     

Spondylolysis and spondylolisthesis and sports

Spondylolysis and spondylolisthesis occur predominantly in the lower lumbar spine. Besides congenital defects such as predisposition of spondylolysis the correlation between competitive sports activities and an increased incidence of spondylolysis is proved. In early stages, complete healing can be achieved by conservative treatment (abstinence from sports activities for 3 months, orthesis). Persistence of pain, neurologic symptoms and progression of vertebral slipping are indications for operative treatment (reconstruction of the isthmus, dorso-ventral spondylodesis). The exercise tolerance depends on the extent of instability, progression of vertebral slipping and clinical symptoms. The limits of exercise tolerance vary among the individual athletes and require the decision of the physician. Backstroke swimming, abdominal and back muscle strengthening exercises, and types of sport involving smooth movements are advisable. Sports education in school is possible without restriction in patients with stable spondylolysis and in those with spondylolisthesis without unfavourable concomitant factors.     

Larks and owls and health, wealth, and wisdom

OBJECTIVE: To test the validity of Benjamin Franklin's maxim "early to bed and early to rise makes a man healthy, wealthy, and wise." DESIGN: Cross sectional analysis of sleeping patterns in a nationally representative group of elderly people, and longitudinal investigation of mortality. SETTING: Eight areas in Britain (five in England, two in Scotland, and one in Wales). SUBJECTS: 1229 men and women aged 65 and over who in 1973-4 had taken part in a survey funded by the Department of Health and Social Security and for whom data on sleeping patterns, health, socioeconomic circumstances, and cognitive function had been recorded. MAIN OUTCOME MEASURES: Self reported income, access to a car, standard of accommodation, performance on a test of cognitive function, state of health and mortality during 23 years of follow up. RESULTS: 356 people (29%) were defined as larks (to bed before 11 pm and up before 8 am) and 318 (26%) were defined as owls (to bed at or after 11 pm and up at or after 8 am). There was no indication that larks were richer than those with other sleeping patterns. On the contrary, owls had the largest mean income and were more likely to have access to a car. There was also no evidence that larks were superior to those with other sleeping patterns with regard to their cognitive performance or their state of health. Both larks and owls had a slightly reduced risk of death compared with the rest of the study sample, but this was accounted for by the fact that they spent less time in bed at night. In the study sample as a whole, longer periods of time in bed were associated with increased mortality. After adjustment for age, sex, the presence of illness, and other risk factors, people who spent 12 or more hours in bed had a relative risk of death of 1.7 (1.2 to 2.5) compared with those who were in bed for 9 hours. The lowest risk occurred in people who spent 8 hours in bed (adjusted relative risk 0.8; 0.7 to 1.0). CONCLUSION: These findings do not support Franklin's claim. A "late to bed and late to rise" lifestyle does not seem to lead to socioeconomic, cognitive, or health disadvantage, but a longer time spent in bed may be associated with increased mortality.     

IQ and ego-resiliency: Conceptual and empirical connections and separateness.

The constructs of intelligence and ego-resiliency are discussed. The personality implications of "pure intelligence" and "pure ego-resilience" were identified. Intelligence (IQ) was indexed by the Wechsler Adult Intelligence Scale-Revised (WAIS—R) and ego-resiliency by an inventory scale. Residual scores measuring "pure intelligence" and "pure ego-resilience" were correlated with the items of the observer based California Q-sort, used to describe participants. Persons relatively high on ego-resilience tend to be more competent and comfortable in the "fuzzier" interpersonal world; persons defined primarily by raw IQ tend to be effective in the "clearer" world of structured work but tend also to be uneasy with affect and less able to realize satisfying human connections. Gender differences exist in the relations of ego-resilience and intelligence and in their adaptive relevance. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Conserving and retaining equalities and inequalities through observation and correction.

Investigated the effects of modeling and corrective feedback on the conservation of equalities and inequalities, with items spanning 3 stimulus dimensions (length, number, and 2-dimensional space). Ss were 48 kindergartners (24 boys, 24 girls). Brief observation of a model, briefer correction training (joining positive feedback with verbal rule provision), and the combination of observation and correction were all successful in producing learning and, without further training, transfer and retention of conservation. Unlike the controls (who also never correctly answered any equality items), the trained experimental Ss gave evidence of spontaneously generalizing their new learning to a task that required nonverbal behavior to manifest conservation. (17 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Reasoning and food and contamination.

Examines strategies that are used to reason about food and contamination. In Exp 1, Ss refrained from choosing a substance that had been given a "poison" label when the intent of the labeler was ambiguous or malicious but preferred this substance when a rationale was provided that dispelled the implication that there once might have been contaminants present. Exp 2 was designed to compare the effects of safety on conditional reasoning in food and food-irrelevant contexts. When the safety issue was relevant to food in the form of contamination, Ss were most likely to use formal logic in reasoning. A similar pattern of responses was found in Exp 3 on tasks for which Ss' ratings of their experience of contexts were matched for plausibility, experience, and danger. Results are discussed in terms of an adaptive constraint that facilitates rationality in reasoning within the food domain (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management

Mechanical allodynia (MA) following hand injury is a well-documented clinical problem. The purpose of this pilot study was to examine the relationship between hand MA and the upper limb tension test (ULTT). The ULTT mechanically stresses the neural structures from the C5/6/7 neural foramina to the median nerve distally. This study examined 29 subjects with unilateral hand MA before and after a 2-week neural self-mobilization programme. There was a significant difference between the subjects' affected and unaffected sides when tested using the ULTT, both in reproduction of symptoms and in reduced range of motion of the ULTT. Following the self-mobilization program, there was an improvement in the range of the ULTT, and subjects reported a reduction in their symptoms. Complete recovery was not obtained in all cases. The results of this study suggest that the ULTT is a useful tool both in assessment and treatment of subjects with hand MA.