中国南方汉族人群MICA-TM基因座等位基因分布

目的调查中国南方汉族人群MICA基因穿膜区(TM)基因座多态性分布。方法应用聚合酶链反应和荧光(6-FAM)自动化技术，对中国南方地区106例无亲缘关系汉族人群样本检测MICA—TM，计算基因频率、基因型频率、个体鉴别力、期望杂合性、多态性信息含量和非父排除率。结果MICA—TM基因型分布符合Hardy—Weinberg平衡，共检出MI—CA—TM 5个等位基因，即A4、A5、A5．1、A6和A9；MICA—TM A5基因频率(O．2877)最高，A4基因频率(0．1321)最低；A5—5．1和A5—5基因型分布频率分别为14．15％和10．38％。结论MICA—TM基因座适合作为中国人群的遗传标志，可用于人类学、遗传病的基因连锁分析、法医学亲子鉴定和个体识别等研究领域。     

JAHK: a low frequency antigen associated with the rG complex of the Rh blood group system

We have investigated a 'new' low frequency antigen JAHK, which is a marker for the rare Rh gene complex rG. The rG haplotype does not produce any D, c or E antigens, but does produce a strong G antigen. The rG haplotype [d(C)(e)G] is associated with weak C and weak e antigens. Three unrelated rG/dce individuals and one rG/rG propositus were JAHK+. In addition, three propositi whose red cells had a typical expression of C and/or e antigen, which could not be shown to be rG because of a normal D antigen produced by the haplotype in trans, were also JAHK+. Families of three of the propositi demonstrate the inheritance of JAHK as a Mendelian dominant character. It is likely that the JAHK antigen results from conformational changes in an RhCcEe protein that has the amino acid characteristic of c antigen at position 16 and the amino acid residues characteristic of C antigen at positions 60, 68, and 103. JAHK has been assigned the number RH53.     

Systematic Review of Clinical Guidelines Related to Care of Individuals With Cerebral Palsy as Part of the World Health Organization Efforts to Develop a Global Package of Interventions for Rehabilitation

ObjectiveThe World Health Organization’s (WHO) Rehabilitation 2030 initiative is working to develop a set of evidence-based interventions selected from clinical practice guidelines for Universal Health Coverage. As an initial step, the WHO Rehabilitation Programme and Cochrane Rehabilitation convened global content experts to conduct systematic reviews of clinical practice guidelines for 20 chronic health conditions, including cerebral palsy.Data SourcesSix scientific databases (Pubmed, EMBASE, Scopus, Web of Science, PEDro, CINAHL), Google Scholar, guideline databases, and professional society websites were searched.Study SelectionA search strategy was implemented to identify clinical practice guidelines for cerebral palsy across the lifespan published within 10 years in English. Standardized spreadsheets were provided for process documentation, data entry, and tabulation of the Appraisal of Guidelines for Research and Evaluation (AGREE II) tool. Each step was completed by 2 or more group members, with disagreements resolved by discussion. Initially, 13 guidelines were identified. Five did not meet the AGREE II established threshold or criteria for inclusion. Further review by the WHO eliminated 3 more, resulting in 5 remaining guidelines.Data ExtractionAll 339 recommendations from the 5 final guidelines, with type (assessment, intervention, or service), strength, and quality of evidence, were extracted, and an International Classification of Functioning, Disability and Health Functioning (ICF) category was assigned to each.Data SynthesisMost guidelines addressed mobility functions, with comorbid conditions and lifespan considerations also included. However, most were at the level of body functions. No guideline focused specifically on physical or occupational therapies to improve activity and participation, despite their prevalence in rehabilitation.ConclusionsDespite the great need for high quality guidelines, this review demonstrated the limited number and range of interventions and lack of explicit use of the ICF during development of guidelines identified here. A lack of guidelines, however, does not necessarily indicate a lack of evidence. Further evidence review and development based on identified gaps and stakeholder priorities are needed.     

急性心肌梗死后康复运动患者的心脏功能评价

目的检测急性心肌梗死(AMI)患者进行早期指导性康复运动和无康复运动者分别在发病第3天及3个月时血清N末端B型钠尿肽前体(NT-proBNP)的水平、左室射血分数(LVEF)和左室舒张末期直径(LVDd)的变化,探讨AMI无严重并发症患者早期康复运动的血清NT-proBNP水平、心脏功能情况。方法选择54例AMI无严重并发症患者,运动组29人(运动+药物治疗),非运动组25人(仅药物治疗)。在AMI第3天做超声心动图检查及检测患者血清NT-proBNP水平,于AMI后3个月时重复上述检查。结果(1)运动组的患者心梗第3天及3个月时NT-proBNP水平从1076.00(666.50-1723.50)ng/L显著下降至211.00(141.75-374.00)ng/L(P<0.05),非运动组的患者血清NT-proB-NP水平从573.00(231.00-1059.50)ng/L降至462.10(218.30-1042.00)ng/L,无显著变化。3个月时两组间有显著性差异(P<0.01)。(2)运动组患者心梗的第3天及3个月时LVDd(50.63±4.89)mm增加到(50.78±4.10)mm没有显著变化,但非运动组的患者从(50.31±4.27)mm增加到(51.85±4.37)mm,LVDd呈显著增加。3个月时两组间LVDd比较有显著性差异(P<0.01)。(3)运动组患者心梗第3天及3个月时的LVEF从(55±9)%升高到(60±8)%,LVEF呈显著升高(P<0.05),非运动组的患者(53±9)%减少到(52±8)%,无显著性变化。3个月时两组间LVEF值有显著性差异(P<0.05)。结论AMI无严重并发症患者早期进行指导性康复运动是安全可行的,可以降低患者血清NT-proBNP水平,增加左室射血分数,可能降低左室舒张末期直径。     

Immune response to autologous transfusion in healthy volunteers: WB versus packed RBCs and FFP

BACKGROUND: Storage of blood as packed RBCs and FFP is standard practice in allogeneic transfusion. Separation into components has been proposed for autologous transfusion, as well, but beneficial effects have not yet been shown. STUDY DESIGN AND METHODS: Twenty-four healthy male volunteers were randomly assigned to receive 1 unit of either autologous RBCs and FFP (RCP group) or WB (WB group) after 49 or 35 days of storage, respectively. The immune response was analyzed by ELISA for IL-6, C3a, terminal complement complex SC5b-9, TNF-alpha, and neopterin. Differential WBC counts and the phagocytosis of neutrophils and monocytes were measured by flow cytometry. RESULTS: Cell counts of monocytes (0.85 x 10(3) ng/microL) [corrected] and neutrophils (6.9 x 10(3) ng/microL) [corrected] increased 30 minutes after WB transfusion and then returned to close to the baseline values seen in the RCP group (0.47 and 2.9 x 10(3) ng/microL [corrected], respectively) throughout the monitored period (p<0.05). C3a (169 vs. 116 ng/microL) [corrected] and IL-6 (29 vs. 6 pg/mL) reached higher plasma concentrations in the WB group (n = 11) than in the RCP group (n = 10). Phagocytosis of opsonized Escherichia coli was increased in neutrophils and monocytes and lasted up to 7 days after the transfusion of whole blood. CONCLUSION: Autologous WB induces a modest immunomodulation, but this effect is not observed upon transfusion of autologous blood components.     

广西桂西地区常见肿瘤与ABO血型的相关性研究

目的探讨广西桂西地区肿瘤患者的性别、疾病构成及血型分布特点，并进行相关性分析。方法对4501例肿瘤患者ABO血型分布进行分析，并用卡方检验（X^2）进行统计学处理。结果A型和AB型血者患除骨肿瘤外其他肿瘤、以及B型血者患肺肿瘤的相对危险度均明显增高（P〈0．01）。B型血者患肠肿瘤和A型血者患骨肿瘤的相对危险度也较高（P〈0．05）。O型血者患各种肿瘤及B型血者除肺肿瘤、肠肿瘤外患其他肿瘤的相对危险度与健康人比较差异无统计学意义。除肝肿瘤外，其他肿瘤的血型分布与性别无相关性。结论广西桂西地区A型和AB型血者易患肿瘤，B型血者易患肠肿瘤和肺肿瘤。     

厄贝沙坦对SHR血浆sICAM-1浓度及主动脉VCAM-1表达的影响

目的 探讨厄贝沙坦对自发性高血压大鼠（SHR）血浆可溶性细胞间黏附分子-1（sICAM-1）浓度及主动脉血管细胞黏附分子-1（VCAM-1）表达的影响及其意义。方法 20只12周龄雄性SHR随机分为SHR对照组10只，SHR治疗组10只，予以厄贝沙坦灌胃，同时选取10只同周龄的雄性Wistar-Kyoto大鼠（WKY）作为对照。给药8周后采用夹心酶联免疫吸附法（ELISA法）测定血浆sICAM-1浓度和免疫组织化学染色法测定主动脉VCAM-1表达的阳性率。结果 与WKY大鼠比较，SHR对照组血浆sICAM-1浓度水平和主动脉VCAM-1表达的阳性率明显增高（P〈0．01）；SHR治疗组血浆sICAM-1浓度和主动脉VCAM-1表达明显低于SHR对照组（P〈0．01），且SHR治疗组血浆sICAM-1浓度与WKY组比较无差异（P〉0．05）。结论 厄贝沙坦具有降低SHR血浆sICAM-1浓度及主动脉VCAM-1表达作用，厄贝沙坦在发挥降压作用的同时，可减轻血管内皮细胞损伤，检测血浆sICAM-1的水平可能成为监测高血压病的指征。     

Teaching social behaviour to individuals diagnosed with autism spectrum disorder using the cool versus not cool procedure in a small group instructional format

Background Children with autism spectrum disorder have impairments in social behaviours that require systematic intervention. The purpose of this study was to evaluate the cool versus not cool procedure implemented in a small group (dyad).

Method The cool versus not cool procedure consisted of the researcher demonstrating the targeted behaviour both correctly and incorrectly and having the participants discriminate the demonstration. If the participants were unable to reach mastery, additional components were added. The researchers utilised a multiple-probe design to evaluate the cool versus not cool procedure.

Results Results indicated that participants were able to reach mastery criterion on some of the social skills with the demonstration alone whereas some skills required either role-playing or feedback during probes.

Conclusions The results showed that the cool versus not cool procedure was somewhat effective in increasing social behaviours; however, some skills required additional components for participants to reach mastery criterion.