EB病毒对新生儿脐带血单核细胞来源的树突状细胞表型的影响

从脐带血单核细胞来源树突状细胞(DC)表型变化的角度来探讨EB病毒对DC表型的影响,以阐明其逃逸宿主免疫的机制。将GM-CSF和IL-4、EB病毒和LPS不同组合对单核细胞来源DC进行刺激培养,利用单染色和三染色免疫荧光抗体标记—流式细胞术检测单核细胞来源DC表面CD14、CD11c、CD1a、HLA-DR、CD86、MR和MHCⅠ类分子。加入EB病毒后,DC表面CD14分子表达的下调不明显,CD1a的表达则随病毒加入时细胞的分化阶段有关;同时EB病毒还影响了加入LPS后HLA-DR和CD86的升高和MR的降低;EB病毒还影响了细胞表面MHCⅠ类分子的表达。因此EB病毒可抑制单核细胞来源DC的分化和成熟,这可能是其逃逸宿主免疫的机制之一。     

重庆地区血红蛋白病的患病率及其基因型和血液学表型分析

目的：分析重庆地区血红蛋白病的携带率、基因型构成及血液学特征,为血红蛋白病筛查及诊断方法的合理选择提供依据。方法：对49 551例进行血红蛋白病筛查的患者外周血样本,采用多重PCR-导流杂交或测序等方法检测地中海贫血常见23种基因位点及血红蛋白变异体(hemoglobin variants,HbVs)相关突变位点;再对确诊血红蛋白病患者的血常规和血红蛋白电泳结果进行回顾分析,评估血常规、血红蛋白电泳二者联合检查在血红蛋白病筛查诊断中的价值。结果：共检出3 511例血红蛋白病(7.09%),其中α地贫携带者1 840例,以--^SEA/αα、-α^3.7/αα和-α^4.2/αα为主;β地贫携带者1 540例,以CD17、IVS-Ⅱ-654、CD41-42为主;异常血红蛋白病65例,β链变异体为主;复合血红蛋白病64例,α地贫复合β地贫携带者57例,地贫复合异常血红蛋白病7例。血红蛋白病患者的血红蛋白、红细胞平均体积、红细胞平均血红蛋白量指标降低与α或β链合成的减少程度呈正相关,而血红蛋白A2(adult hemoglobin ...     

神经系统副肿瘤综合征临床诊断进展

神经系统副肿瘤综合征（paraneoplastic neurological syndrome,PNS）是肿瘤通过远隔效应累及神经系统的一组罕见的免疫介导性疾病,其临床症状多样,通常伴有特异性的神经抗体。2021年,国际专家组修订了2004年PNS诊断标准,提出了新的临床评分系统,突出强调了“表型-抗体-肿瘤”的关联性。本研究回顾近年文献,围绕新标准,对PNS的临床诊断进展作一综述。     

慢性阻塞性肺疾病频发加重表型患者危险因素分析

目的 分析导致慢性阻塞性肺疾病频发急性加重表型患者,频发加重的可能危险因素.方法收集2016年01月至2017年01月在上海交通大学医学院附属新华医院崇明分院呼吸科住院患者中被诊断为慢阻肺急性加重期的患者,根据患者急性加重发作频率,纳入51例频发急性加重表型患者并随访1年,观察1年内再次频发加重的患者比例及临床特征,采...     

Redefining the biological basis of lineage-ambiguous leukemia through genomics: BCL11B deregulation in acute leukemias of ambiguous lineage

Acute leukemias of ambiguous lineage (ALAL), including mixed phenotype acute leukemia (MPAL) and related entities such as early T-cell precursor acute leukemia (ETP-ALL), remain diagnostic and clinical challenges due to limited understanding of pathogenesis, reliance of immunophenotyping to classify disease, and the lack of a rational approach to guide selection of appropriate therapy. Recent studies utilizing genomic sequencing and complementary approaches have provided key insights that are changing the way in which such leukemias are classified, and potentially, treated. Several recurrent genomic alterations define leukemias that straddle immunophenotypic entities, such as ZNF384-rearranged childhood B-ALL and B/myeloid MPAL, and BCL11B-rearranged T/myeloid MPAL, ETP-ALL and AML. In contrast, some cases of MPAL represent canonical ALL/AML entities exhibiting lineage aberrancy. For many cases of ALAL, experimental approaches indicate lineage aberrancy arises from acquisition of a founding genetic alteration into a hematopoietic stem or progenitor cell. Determination of optimal therapeutic approach requires genomic characterization of uniformly treated ALAL patients in prospective studies, but several approaches, including kinase inhibitors and BH3 mimetics may be efficacious in subsets of ALAL.     

不同耐药表型肺炎克雷伯菌生物膜形成能力与RyhB基因的关联性

目的 探讨呼吸道感染分离的不同耐药表型肺炎克雷伯菌(KP)生物膜形成能力与RyhB基因的相关性及其临床意义.方法 收集2018年10月2019年10月该院呼吸道感染分离的46株KP,检测菌株的耐药性,构建KP体外感染模型并通过结晶紫染色法定量检测KP生物膜形成能力;采用PCR法扩增RyhB基因.结果 46株KP根据耐药...     

A risk-based approach to identifying oligometastatic disease on imaging

Recognition of <3 metastases in <2 organs, particularly in cancers with a known predisposition to oligometastatic disease (OMD) (colorectal, prostate, renal, sarcoma and lung), offers the opportunity to focally treat the lesions identified and confers a survival advantage. The reliability with which OMD is identified depends on the sensitivity of the imaging technique used for detection and may be predicted from phenotypic and genetic factors of the primary tumour, which determine metastatic risk. Whole-body or organ-specific imaging to identify oligometastases requires optimization to achieve maximal sensitivity. Metastatic lesions at multiple locations may require a variety of imaging modalities for best visualisation because the optimal image contrast is determined by tumour biology. Newer imaging techniques used for this purpose require validation. Additionally, rationalisation of imaging strategies is needed, particularly with regard to timing of imaging and follow-up studies. This article reviews the current evidence for the use of imaging for recognising OMD and proposes a risk-based roadmap for identifying patients with true OMD, or at risk of metastatic disease likely to be OM.     

CHRNB3 is more strongly associated with Fagerström Test for Cigarette Dependence-based nicotine dependence than cigarettes per day: phenotype definition changes genome-wide association studies results

AIMS: Nicotine dependence is a highly heritable disorder associated with severe medical morbidity and mortality. Recent meta-analyses have found novel genetic loci associated with cigarettes per day (CPD), a proxy for nicotine dependence. The aim of this paper is to evaluate the importance of phenotype definition (i.e. CPD versus Fagerstr?m Test for Cigarette Dependence (FTCD) score as a measure of nicotine dependence) on genome-wide association studies of nicotine dependence. DESIGN: Genome-wide association study. SETTING: Community sample. PARTICIPANTS: A total of 3365 subjects who had smoked at least one cigarette were selected from the Study of Addiction: Genetics and Environment (SAGE). Of the participants, 2267 were European Americans, 999 were African Americans. MEASUREMENTS: Nicotine dependence defined by FTCD score ≥4, CPD. FINDINGS: The genetic locus most strongly associated with nicotine dependence was rs1451240 on chromosome 8 in the region of CHRNB3 [odds ratio (OR)?=?0.65, P?=?2.4?×?10(-8) ]. This association was further strengthened in a meta-analysis with a previously published data set (combined P?=?6.7?×?10(-16) , total n?=?4200). When CPD was used as an alternate phenotype, the association no longer reached genome-wide significance (β?=?-0.08, P?=?0.0004). CONCLUSIONS: Daily cigarette consumption and the Fagerstrom Test for Cigarette Dependence show different associations with polymorphisms in genetic loci.