Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome

Children with chromosome 22q11.2 deletion syndrome commonly are found to have morphological brain changes, cognitive impairments, and elevated rates of psychopathology. One of the most commonly and consistently reported brain changes is reduced cerebellar volume. Here, we demonstrate that, in addition to the global cerebellum reductions previously reported, volumetric reductions of the anterior lobule and the vermal region of the neo-cerebellum in the mid-sagittal plane best differentiate children with the deletion from typically developing children. These results suggest that the morphological changes of specific portions of the cerebellum may be an important underlying substrate of cognitive impairments and increased incidence of psychopathology in this group.     

定量PCR检测缺失型DMD/BMD携带者的研究

研究DMD/BMD携带者临床诊断的有效手段。方法 :运用双重定量PCR及剂量系数分析 ,检测 2 6例正常对照 ,7例肯定携带者和 2 1例可疑携带者 ,部分结果与短片段重复顺序多态性方法及CK值作了比较。结果 :确定了判定参考标准 ,可疑携带者中 ,患儿母亲检测阳性率为 5 7.9% ,8例经短串联重复顺序多态性分析 ,得到了完全验证。结论 :定量PCR检测DMD/BMD携带者快速、敏感、准确 ,可在临床诊断中应用。     

医学科研论著归级分等问题的思考

医学科研论文和著作是医学科技工作者研究成果的文字表达形式 ,越来越受到医学科技工作者的重视。国内医学领域科学期刊已有数百种 ,每年发表的论文达万篇以上。面对医学科研论著激增的态势 ,探讨其归级分等的标准与操作问题 ,已愈来愈引起业内人士的重视。1　医学科研论著归级     

我国消除丙型肝炎的普通人群HCV检测策略的成本效果分析

目的 分析我国消除丙型肝炎（丙肝）的普通人群HCV检测策略的成本效果,明确最佳成本效果的HCV检测年龄。方法 运用TreeAge pro 2019软件构建决策树马尔科夫模型,以1年为周期,模拟10万名20~59岁各年龄组人群HCV检测和治疗结果,以全社会角度分析策略间比较的成本效果和效益。效果指标为增量成本效果比（ICER）,效益指标为净货币效益（NMB）,以我国2022年人均国内生产总值（85 698元）为意愿支付阈值。通过单因素敏感性分析和概率敏感性分析评估结果可靠性。结果 在20~59岁人群HCV检测有成本效果,在40~49岁年龄组进行HCV检测成本效果最佳。20~59岁年龄组人群HCV检测策略与未HCV检测策略比较,增量成本为161.24元/人,增量效用为0.003 6质量调整寿命年（QALYs）/人,ICER为45 197.26元/QALY,ICER小于意愿支付阈值,具有成本效果。各年龄组人群HCV检测策略与未HCV检测策略比较,ICER为42 055.06~53 249.43元/QALY,NMB为96.52~169.86元/人,其中40~49岁年龄组的ICER最低,NMB最高。单因素敏感性分析结果显示,贴现率、丙肝抗体（抗-HCV）检测成本、人群抗-HCV阳性率和直接抗病毒药物治疗成本对经济学评价影响较大,但改变参数取值,结论不变。概率敏感性分析结果表明模型分析结果稳定。结论 医疗机构探索动员20~59岁普通人群进行HCV检测具有较好的成本效果,以40~49岁年龄组人群的HCV检测成本效果最佳。在我国普通人群中实施HCV检测的“愿检尽检”策略,能降低人群丙肝疾病负担。     

肿瘤标志物DR-70在恶性肿瘤诊断中的应用

目的：评价肿瘤标志物ＤＲ－７０在恶性肿瘤中的诊断应用。方法：应用美国ＡＭＤＬ公司的ＤＲ－７０＾ＴＭ ＥＬＩＳＡ试剂盒,测定对２０例正常人和５９例恶性肿瘤病人血清ＤＲ－７０含量。结果：各种恶性肿瘤ＤＲ－７０的阳性率为６６．７￣１００％,均较正常对照组有非常显著性差异（Ｐ〈０．００１）。结论：血清ＤＲ－７０是诊断恶性肿瘤有价值的标志物。     

Intestinal cytokine response after gut ischemia: role of gut barrier failure

OBJECTIVE: To investigate the effect of intestinal ischemia with and without a reperfusion injury on intestinal cytokine production and gut permeability. SUMMARY BACKGROUND DATA: In humans and in animal models, the gut has been implicated as a cytokine-producing organ after ischemia/reperfusion (I/R)-type injuries. Because of the limitations of in vivo models, it has been difficult to demonstrate directly that the gut releases cytokines after an I/R injury or whether there is a relation between the magnitude of the ischemic process and the cytokine response. METHODS: Ileal mucosal membranes from rats subjected to sham or 45 or 75 min of superior mesenteric occlusion (SMAO) or 45 minutes of SMAO and 30 minutes of reperfusion (SMAO 45/30) were mounted in the Ussing chamber system. Levels of tumor necrosis factor-alpha and interleukin-6 were serially measured in the mucosal and serosal reservoirs of the Ussing system, as was mucosal permeability as reflected by the passage of bacteria or phenol red across the ileal membrane. In a second group of experiments, Escherichia coli C25 was added to the mucosal reservoir to determine if the cytokine response would be increased. RESULTS: Mucosal and serosal levels of tumor necrosis factor-alpha were equally increased after SMAO, with the highest levels in the 75-minute SMAO group. The highest levels of interleukin-6 were found in rats subjected to 75 minutes of SMAO or SMAO 45/30; the serosal levels of interleukin-6 were four to sixfold higher than the mucosal levels. The addition of E. coli C25 resulted in a significant increase in the amount of interleukin-6 or tumor necrosis factor-alpha recovered from the mucosal reservoir. Increased ileal membrane permeability was observed only in rats subjected to 75 minutes of SMAO or SMAO 45/30. CONCLUSION: These results directly document that the levels of tumor necrosis factor-alpha and interleukin-6 released from the gut increase after an ischemic or I/R injury, such as SMAO, and that there is a relation between the magnitude of the gut ischemic or I/R insult and the cytokine response.     

道路桥梁桩基础沉降性状及计算分析

由桥梁桩基实测沉降的统计分析,揭示了桩端持力层的性质对桩基的沉降性状具有显著的影响;经5组桩基进一步的计算比较,表明桩端持力层压缩模量计算值的离散是造成桩基计算沉降偏离实际沉降的主要原因之一.提出了用静力触探Ps值修正Es值的方法,并且讨论了桩基附加应力的计算及计算沉降经验系数(ψs)的取值问题.     

我国农村地区实施大病统筹合作医疗或医疗保险方案的技术缺陷

在我国中等发达及上农村地区,大病统筹合作医疗或医疗保险以其可缓解农村居民的就医经济风险而受到欢迎,但是在方案的拟订过程中尚存在一些明显的技术缺陷,比如,“大病”的技术定义、农村居民就医经济风险分析、风险临界线界定、保险经付比测算和保险费率厘定等,这些技术的缺乏,已严重影响农村合作医疗或医疗保险的推广和实施效果。