以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征一家系分析

目的研究1个以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征(MERRF)家系的临床特点、遗传学特征。方法整理一个以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征家系的临床表现、辅助检查及影像学资料,分析其临床特点和遗传特征。结果该家系呈母系遗传,共4人(包括先证者3个同辈,1个子代)出现肌阵挛表现,先证者以光敏性癫痫为主要表现,其肌肉活检可见典型的破碎红纤维(RRF),先证者的线粒体DNA提示8344位点由A突变为G。结论 MERRF家系少见,可以光敏性肌阵挛癫痫为主要表现。     

半导体激光联合药物治疗带状疱疹

目的观察半导体激光联合药物治疗带状疱疹的疗效。方法将97例带状疱疹患者随机分成2组。对照组45例单纯药物治疗(静脉注射5%葡萄糖注射液250 ml加入阿昔洛韦0.5 g,每日2次;本院自制中药冷湿敷患处,每次15 min,每日2次)。治疗组在上述药物治疗基础上加用半导体激光照射受损的神经根部和皮损部位。疗程7 d。结果治疗组与对照组治疗后病情积分均有所下降(P<0.01),治疗组的病情积分下降明显大于对照组(P<0.01);治疗组的疼痛积分明显下降(P<0.01);对照组的疼痛积分无明显下降,治疗组有效率大于对照组,后遗神经痛发生率低于对照组。结论半导体激光联合药物治疗带状疱疹疗效优于单纯药物治疗,且可明显减轻疼痛症状,降低后遗神经痛发生率。     

1958例系统性红斑狼疮住院患者临床特征分析

目的回顾性分析系统性红斑狼疮(SLE)住院患者的临床特征,分析其发病形式及患者就诊时的情况。方法采用流行病学调查的方法,随机抽取江苏省10年来1 958例SLE住院患者的病历,分析其临床特征,采用SPSS 13.0软件包进行统计学分析。结果①在1 958份病例中,临床特征以关节痛(炎)最多(53.8%),其次为面部红斑(48.3%)、发热(36.1%)、肾损害症状(24.5%)。②男女发病比例为1.0︰15.0,男性以皮疹最多见,占59.0%,高于女性47.6%,其次为发热(47.5%),高于女性(35.3%),关节痛(炎)(45.9%低于女性(54.3%),男性肾损害(36.9%),高于女性(23.7%)。③不同年龄患病率:≤20岁(19.2%),>40岁(18.8%),20～40岁(62.0%)。④从出现症状到住院:发热13.8个月,肾损害症状19.5个月,关节痛(炎)36.9个月,面部红斑37.2个月。结论关节痛(炎)、面部红斑、发热是SLE最常见的临床表现,是就诊的主因。中青年女性发病率高,男性皮疹、发热、肾损害发生率高,而女性关节痛(炎)发生率高于男性。     

microRNA调控NK细胞KIR3DL1表达初探

目的初步探寻人外周血自然杀伤细胞（Nature Killer,NK）杀伤细胞免疫球蛋白样受体（Killer Cell Immnoglobulin-Like Receptor,KIR3DL1）表达可能存在的microRNA（miR）调控机制。方法利用生物信息学方法,从miR信息库中筛选出可能与KIR3DL1相关的miRs,构建含KIR3DL1 3’非翻译区（UTR）的PGL3质粒,分别将含相应miR的PcDNA3.0质粒与前者共转染293T细胞,通过荧光素酶报告实验及之后的突变实验筛选出可能调控KIR3DL1的miR。结果通过TARGET SCAN信息库筛选了miR-146b等10个miR;转染miR-146b后,荧光素酶活性下降最多（61.3%）,突变其KIR3DL1 3’UTR靶位点后荧光素酶活性恢复（91.4%）。结论 miR-146b可与KIR3DL1’UTR在靶位点特异结合,很可能参与KIR3DL1表达的调控。     

抗血小板膜糖蛋白Ibα胞内段多肽多克隆抗体的制备及初步应用

目的 制备兔抗人血小板膜糖蛋白(GP)Ibα C端557～561氨基酸序列多肽的多克隆抗体,并初步用于人血小板GPIbα C端559位丝氨酸磷酸化状态的检测.方法 应用化学方法合成C-R-G-S-L-P(559位丝氨酸非磷酸化,Ser559)和C-R-G-s(p)-L-P(559位丝氨酸磷酸化,pSer559)多肽.将2种多肽分别与钥孔蜮血蓝蛋白交联后,以皮下注射法分别免疫新西兰大白兔,分离获得2种抗血清(抗Ser559多抗和抗pSer559多抗).应用斑点印迹和酶联免疫吸附试验(ELISA)方法 对抗血清进行鉴定并检测效价.从人血小板裂解液中分离纯化血小板GPIbα,利用抗Ser559多抗和抗pSer559多抗、采用ELISA方法检测人血小板GPIbαC端559位丝氨酸磷酸化状况.结果 所制备的2种多抗分别特异性识别各自抗原,效价分别为1:32 000和1:64 000.2种多抗均可与纯化的人血小板GPIbα特异结合,表明人血小板GPIbα 559位点丝氨酸存在磷酸化与非磷酸化两种状态.结论 应用人工合成多肽成功制备出2种可特异性识别丝氨酸磷酸化状态的兔抗人血小板GPIbα胞内段多肽多抗,并证明人血小板GPIbαC端559位丝氨酸存在磷酸化状态.     

胃癌细胞增殖与腹腔灌洗液中端粒酶活性及腹膜转移的相关性研究

目的 研究胃癌增殖细胞核抗原（proliferating cell nuclear antigen，PCNA）表达与腹腔灌洗液端粒酶活性及腹膜转移的相关性，并比较腹腔灌洗液中端粒酶活性和细胞学检测游离癌细胞预测腹膜转移的应用价值。方法 应用免疫组化SP法检测60例胃癌患者胃癌组织中PCNA表达，PCR—TRAP-ELISA法检测腹腔灌洗液中端粒酶活性，同时行腹腔灌洗液脱落细胞学（peritoneal lavage cytology．PLC）检测；并分析其与相关临床病理因素的关系。结果 胃癌患者腹腔灌洗液中端粒酶活性的阳性率为41．7％；与浆膜侵犯、组织学类型、浸润深度、浆膜受累面积及腹膜转移密切相关，并随着浸润深度及浆膜受累面积的增加而升高（P〈0．05）。PLC检测阳性率为25．0％；在伴肉眼可见腹膜转移灶（P1-3）者明显增高，也随着浸润深度及浆膜受累面积的增加而升高。两种方法检测的阳性率总体上差异无统计学意义。但在未分化型癌、pT1、伴肉眼可见腹膜转移灶（P1-3）者端粒酶活性阳性率明显高于PLC。PCNA增殖指数（PI）在腹腔灌洗液端粒酶活性表达阳性者明显高于表达阴性者，伴肉眼可见腹膜转移灶（P1-3）者明显高于无肉眼可见腹膜转移灶（P0）者，浆膜受侵者明显高于浆膜未受侵者（P均〈0．05）。结论 两种方法均适用于胃癌腹腔脱落癌细胞的诊断或腹膜转移的预测，端粒酶活性检测微量癌细胞的灵敏度优于PLC法检测；胃癌端粒酶活性与恶性增殖活性密切相关；胃癌高增殖活性是浆膜受侵及腹膜转移的重要原因。     

New indicators for delay in initiation of antiretroviral treatment: estimates for Cameroon

Objective

To propose two new indicators for monitoring access to antiretroviral treatment (ART) for human immunodeficiency virus (HIV); (i) the time from HIV seroconversion to ART initiation, and (ii) the time from ART eligibility to initiation, referred to as delay in ART initiation. To estimate values of these indicators in Cameroon.

Methods

We used linear regression to model the natural decline in CD4+ T-lymphocyte (CD4+ cell) numbers in HIV-infected individuals over time. The model was fitted using data from a cohort of 351 people in Côte d’Ivoire. We used the model to estimate the time from seroconversion to ART initiation and the delay in ART initiation in a representative sample of 4154 HIV-infected people who started ART in Cameroon between 2007 and 2010.

Findings

In Cameroon, the median CD4+ cell counts at ART initiation increased from 140 cells/μl (interquartile range, IQR: 66 to 210) in 2007–2009 to 163 cells/μl (IQR: 73 to 260) in 2010. The estimated average time from seroconversion to ART initiation decreased from 10.4 years (95% confidence interval, CI: 10.3 to 10.5) to 9.8 years (95% CI: 9.6 to 10.0). Delay in ART initiation increased from 3.4 years (95% CI: 3.1 to 3.7) to 5.8 years (95% CI: 5.6 to 6.2).

Conclusion

The estimated time to initiate ART and the delay in ART initiation indicate that progress in Cameroon is insufficient. These indicators should help monitor whether public health interventions to accelerate ART initiation are successful.     

Effects of insulin resistance and insulin secretion on the efficacy of interventions to retard development of type 2 diabetes mellitus: the DA Qing IGT and Diabetes Study

OBJECTIVE: To investigate the effects of insulin resistance (IR) and insulin secretion (IS) on the development of diabetes mellitus in individuals with impaired glucose tolerance (IGT) who underwent lifestyle interventions. METHODS: 284 out of 577 individuals with IGT identified by population-based screening in Da Qing, China, who were randomized to undergo diet change and/or increased physical activity had baseline fasting and 2 h post-load insulin determinations. They were followed for 6 years for the development of diabetes. IR and IS were assessed using calculated indices based on fasting plasma insulin and glucose. The interactions of IR, IS, obesity and plasma glucose and the effects of the lifestyle interventions were evaluated using Cox Proportional Hazards analysis. RESULTS: Both IR and IS were significantly associated with the development of diabetes. Lifestyle interventions were more effective in those with lower IT and higher IS at baseline. Diet plus exercise interventions resulted in significantly lower incidence of diabetes, even after controlling for IR, IS, BMI and 2hrPG. CONCLUSION: Both IR and beta-cell function were predictors of diabetes in Chinese with IGT. Lifestyle intervention reduced the incidence of DM and these interventions were more effective in those with less IR.     

Interleukin-11 stimulates multilineage progenitors, but not stem cells, in murine and human long-term marrow cultures

Interleukin-11 (IL-11) is a bone marrow microenvironment-derived growth factor with pleiotropic effects on a variety of hematopoietic cells. To more accurately assess the effects of IL-11 on stem and progenitor compartments within the hematopoietic microenvironment (HM), we added recombinant human (rh) IL-11 to human and murine long-term bone marrow cultures (LTMC) and analyzed primitive (high proliferative potential- colony forming cells [HPP-CFC], long-term culture-initiating cells [LTC- IC], and long-term reconstituting stem cells) and progenitor (day 12 colony forming unit-spleen [CFU-S12], colony forming unit-megakaryocyte [CFU-Mk] and colony forming unit-granulocyte/macrophage [CFU-GM]) compartments throughout the duration of the cultures. rhIL-11 (100 ng/mL) added twice weekly resulted in significantly increased nonadherent (NA) cellularity, CFU-GM, and CFU-Mk production in human LTMC. Addition of rhIL-11 to murine LTMC was associated with a 5- to 40- fold increase in CFU-GM and a four- to 20-fold increase in day 12 CFU-S in NA cells. However, IL-11 had no significant effect on total HPP-CFC concentration and decreased the size of the more primitive stem/progenitor compartment as evidenced by both decreased LTC-IC frequency in human LTMC and decreased frequency of long-term reconstituting stem cells in murine LTMC. These data suggest that IL-11 may increase commitment of stem cells into a multipotential progenitor compartment.