2011年美国骨髓移植会议临床热点荟萃

2011年2月17—21日美国骨髓移植会议（Bone Marrow Transplant Tandem Meeting）在美国夏威夷举行,来自世界各地的4000余名造血干细胞移植（hematopoietic stem cell transplantation,HSCT）专家和代表参与,650余份论文交流,其中口头报告100余份。大会主题涉及造血干细胞及移植免疫的基础研究、HSCT后过继细胞免疫治疗、非清髓预处理在脐血及单倍体相合HSCT中的应用、杀伤细胞免疫球蛋白样受体（killer cell immunoglobulin—like receptor,KIR）对移植预后的影响以及异基因HSCT后复发的治疗等。本文就部分临床热点内容作一简介。     

短种植体在修复颌间距离过大病例的效果评估

目的 评估短种植体修复颌间距离过大病例的临床效果.方法 15例上下颌后牙区骨高度6.0～8.0mm缺牙患者,共25枚种植体经牙槽嵴顶入路用Bicon种植体植入.结果 全部患者均在术后3～6个月完成义齿修复.临床上恢复功能后随访时间10～26个月,平均14.7个月,未发现义齿修复后种植体松动及脱落.X线片检查种植体周围无阴影,形成良好的骨结合.结论 短种植体修复上下颌后部骨量严重不足的缺牙区虽在临床上出现冠--种植体比例严重失调的现象,但并不影响其成功率.     

贲门周围血管离断术治疗晚期血吸虫病门静脉高压症的近远期疗效

目的评估贲门周围血管离断术(PCDV)治疗晚期血吸虫病门静脉高压症近远期疗效。方法总结1980年1月～2010年1月采用PCDV治疗晚期血吸虫病门静脉高压症患者的资料,统计相关数据,分析近远期疗效。结果治疗性手术493例(急诊手术264例,择期治疗性手术229例),预防性手术1 380例。近期止血率98.1%,手术死亡率1.87%,急诊手术死亡率10.2%,择期治疗性手术死亡率2.6%,预防性手术死亡率0.14%。随访1 629例,总出血率为11.2%,其中治疗性手术后再出血率30.8%,其5、10、20和30年再出血率分别为5.2%、10.1%、1.5%和0.6%。预防性手术后出血率2.3%。5、10、20和30年生存率分别为90.9%、87.6%、80.3%和79.6%,5、10、20和30年肝性脑病发生率分别为1.29%、3.2%、4.5%和4.8%。肝功能好转79.8%,腹水好转87.3%,脾功能亢进症消失81.0%,好转12.3%,食管静脉曲张好转79.8%。结论 PCDV是治疗晚期血吸虫病门静脉高压症的最佳术式;保护已经建立的不碍生命安全的侧支循环,常规联合大网膜包肾术,保留胃冠状静脉的完整性,是保证疗效的关键要点。     

大鼠STAT3特异性shRNA慢病毒载体的构建与鉴定

目的在已经成功构建4个针对STAT3的shRNA质粒表达载体的基础上,筛选出干扰效果最佳者进行慢病毒包装并鉴定。方法将STAT3的干扰质粒shRNA1、shRNA2、shRNA3、shRNA4及Control1(空载体对照),Control2(无效shRNA对照)分别转染目的细胞(大鼠肾小球系膜细胞),48h后收集细胞提取mRNA,以RT-PCR检测各组分STAT3表达量。对于筛选所得干扰效果最佳的质粒,采用pPACKH1TM慢病毒载体系统进行病毒包装。利用绿色荧光蛋白作为报告基因,对感染效率及病毒滴度进行检测。结果 RT-PCR检测结果显示,shRNA3样品受干扰的效果最佳。成功构建了慢病毒载体Lenti-shRNA3,共转染293T细胞24h、48h,荧光显微镜下可见强绿色荧光,细胞生长状态良好,表明病毒包装成功。转染HT1080细胞,收集慢病毒液,测定病毒滴度为3.34×108ifu/ml,适合感染目的细胞。结论成功构建了STAT3基因的shRNA慢病毒表达载体,为进一步应用奠定了基础。     

韦氏儿童智力量表第4版(中文版)六分测验简版及其在智力残疾评定中的作用

目的建立韦氏儿童智力量表(WISC)简版。方法采用回归法选择6个分测验组成WISC-Ⅳ中文版六分测验简版,并以常模法和等值法相结合建立六分测验简版的常模。结果和结论类同、理解、积木、矩阵推理、背数和译码等6个分测验组成简版具有良好的信度和效度,对智力障碍儿童样本的区分情况与完整版接近。     

Repeat haematinic requests in patients with previous normal results: the scale of the problem in elderly patients at a district general hospital

Repeating normal laboratory tests can waste resources. This study aimed to quantify unnecessary repeat haematinic tests taken from the elderly in a district general hospital. Haematinic tests (ferritin, B12, serum folate) from patients age ≥ 70 years were reviewed for repeat tests during an 8-week period. Questionnaires were given to doctors to establish when the considered repeating a 'borderline low normal' result to be clinically justifiable. 7.7% of all haematinic tests were repeat tests and of these, the majority (83%) was performed following a previously normal result. Thirteen of 24 doctors believed repeating a normal result at the bottom of the normal range ('borderline low normal') was justifiable. After excluding 'borderline low normal' results, 6.0% (at minimum) of repeat tests were done following a previous normal result and were unnecessary. This audit showed that there are a significant number of unnecessary repeat haematinic tests being performed.     

L-DRD4 genotype not associated with sensation seeking, gambling performance and startle reactivity in adolescents: the TRAILS study

The purpose of the present study was to investigate whether a length polymorphism in the dopamine receptor D4 gene (DRD4) was associated with approach related traits in adolescents. Data were used from TRAILS (TRacking Adolescents’ Individual Lives Survey), a population based cohort of Dutch adolescents. Sensation seeking, assessed with personality questionnaires from the participants themselves and their biological father and mother (n = 1282) was not associated with DRD4 genotype. Gambling performance (n = 591) and startle reactivity (n = 432) were not associated with DRD4 genotype either. Explanations for the dissociation might be sought in differences in development of the limbic system and the prefrontal cortex, both with high dopamine receptor D4 densities and both involved in approach related behaviours.     

2019 HRS expert consensus statement on evaluation,risk stratification,and management of arrhythmogenic cardiomyopathy

Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a broad spectrum of genetic, systemic, infectious, and inflammatory disorders. This designation includes, but is not limited to, arrhythmogenic right/left ventricular cardiomyopathy, cardiac amyloidosis, sarcoidosis, Chagas disease, and left ventricular noncompaction. The ACM phenotype overlaps with other cardiomyopathies, particularly dilated cardiomyopathy with arrhythmia presentation that may be associated with ventricular dilatation and/or impaired systolic function. This expert consensus statement provides the clinician with guidance on evaluation and management of ACM and includes clinically relevant information on genetics and disease mechanisms. PICO questions were utilized to evaluate contemporary evidence and provide clinical guidance related to exercise in arrhythmogenic right ventricular cardiomyopathy. Recommendations were developed and approved by an expert writing group, after a systematic literature search with evidence tables, and discussion of their own clinical experience, to present the current knowledge in the field. Each recommendation is presented using the Class of Recommendation and Level of Evidence system formulated by the American College of Cardiology and the American Heart Association and is accompanied by references and explanatory text to provide essential context. The ongoing recognition of the genetic basis of ACM provides the opportunity to examine the diverse triggers and potential common pathway for the development of disease and arrhythmia.     

Corrigendum to “Linkage disequilibrium analysis of D12S391 and vWA in U.S. population and paternity samples” [Forensic Sci. Int.: Genet. (in press), doi:10.1016/j.fsigen.2010.09.003]

Recently, the European Network of Forensic Science Institutes voted to adopt five additional STR loci (D12S391, D1S1656, D2S441, D10S1248, and D22S1045) to their existing European Standard Set of seven STRs (TH01, vWA, FGA, D8S1179, D18S51, D21S11, and D3S1358). The D12S391 and vWA loci are located 6.3 megabases (Mb) apart on chromosome 12. Ideally for use in forensic analyses, genetic markers on the same chromosome should be more than 50 Mb in physical distance in order to ensure full recombination and thus independent inheritance. The purpose of this study was to evaluate if the closely located D12S391 and vWA loci are independent and, consequently, if these loci can be included in the product rule calculation for forensic and kinship analyses. Departures from Hardy–Weinberg equilibrium and linkage disequilibrium between the D12S391 and vWA loci were tested using n = 654 unrelated U.S. African American, Caucasian, and Hispanic samples, and n = 764 father/son paternity samples. In the unrelated U.S. population samples, no significant departures from HWE were detected for D12S391 or vWA. No significant evidence of linkage disequilibrium was observed between the loci in the population samples. However, significant linkage disequilibrium was detected in U.S. African American, Caucasian, and Asian father/son samples with phased genotypes. No significant linkage disequilibrium was detected for U.S. Hispanic paternity samples. The use of phased father/son pairs allowed for robust detection of linkage disequilibrium between D12S391 and vWA. In unrelated population samples, linkage disequilibrium is present but more difficult to detect due to the large number of possible haplotype combinations and unknown allelic phase. For casework analyses that involve unrelated or related individuals, the single-locus genotype probabilities for D12S391 and vWA should not be multiplied to determine the match probability of an autosomal STR profile. Since the D12S391 and vWA loci are not independent, it is recommended that the observed combination of alleles at D12S391 and vWA should be treated as a non-independent diplotype for profile probability calculations. The observed haplotype frequencies for U.S. African American, Caucasian, Hispanic, and Asian populations are provided for match probability calculations.