化疗联合HLA不全相合G-PBSC输注治疗恶性血液病的临床分析

目的初步探讨化疗联合HLA不全相合G-PBSC输注(微移植)治疗恶性血液病的临床应用。方法回顾性分析2015-05～2016-12接受微移植治疗的13例恶性血液病患者的临床及随访资料。根据病情,对13例患者行不同的预处理方案化疗后,计划给予微移植3～4次。观察微移植后患者的缓解情况,生存时间,血象恢复时间,急、慢性移植物抗宿主病(GVHD)及其他不良反应发生情况。结果随访至2017-04,中危组8例,其中存活6例,死亡2例;高危组5例,其中存活2例,死亡3例。中位生存期为9个月(4～24个月)。微移植治疗后,中性粒细胞和血小板平均恢复时间分别为8 d(5～14 d)和11 d(6～20 d)。所有患者在微移植过程中均未出现急、慢性GVHD及其他不良反应。结论微移植在供者选择上不受限制,移植后血小板及中性粒细胞恢复较快,且无急、慢性GVHD及其他不良反应发生;微移植在中高危恶性血液病的临床应用尚处于探索阶段,仍需多中心、大样本的临床研究来进一步验证。     

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome

Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. BRAF, the protein product of BRAF, is a serine/threonine protein kinase and one of the direct downstream effectors of Ras. Somatic mutations in BRAF occur in numerous human cancers, whereas germline BRAF mutations cause cardio‐facio‐cutaneous (CFC) syndrome. One recurrent somatic mutation, p.V600E, is frequently found in several tumor types, such as melanoma, papillary thyroid carcinoma, colon cancer, and ovarian cancer. However, a germline mutation affecting codon 600 has never been described. Here, we present a patient with CFC syndrome and a de novo germline mutation involving codon 600 of BRAF, thus providing the first evidence that a pathogenic germline mutation involving this critical codon is not only compatible with development but can also cause the CFC phenotype. In vitro functional analysis shows that this mutation, which replaces a valine with a glycine at codon 600 (p.V600G), leads to increased ERK and ELK phosphorylation compared to wild‐type BRAF but is less strongly activating than the cancer‐associated p.V600E mutation.     

Results of the influenza virus surveillance in wild birds in Western part of Mongolia

ObjectiveTo present results of virological study of wild birds inhabiting Western Mongolia.MethodsOver a period of 2003–2008, we isolated 13 influenza A viruses: H1N1, H3N6, H13N8 and H4N6 subtypes. We did not isolate any H5N1 subtype, that still cause epizooty in wild birds and poultry.ResultsWe revealed taxonomic and ecological heterogeneity of the birds involved in maintenance of circulation of influenza viruses in the given territory. Influenza viruses were isolated from birds of 6 orders; among them there are species preferring water and semi-aquatic biotopes, one species preferring dry plain region, and also one species which can inhabit both dry and water biotopes.ConclusionsRepresentatives of all main orders of Western Mongolia avifauna are involved in support of influenza A virus circulation, highly pathogenic H5N1 influenza viruses were registered in Mongolia thus it's necessary to continue permanent influenza virus surveillance in wild birds' populations.     

新疆维吾尔族成人支气管哮喘的影响因素研究

摘要:目的　探讨新疆乌鲁木齐市维吾尔族人群成人支气管哮喘的影响因素。方法　本研究采用成组匹配病例对照研究方法,病例组为新疆医科大学第一附属医院呼吸内科在2014年1-12月确诊的维吾尔族支气管哮喘成人患者（n＝120例）,对照组为同期体检中心健康维吾尔族体检者（n＝126例）,两组在年龄、性别相匹配。采用问卷调查的方法收集相关暴露资料,并采用单因素分析及多因素非条件Logistic回归模型分析成人支气管哮喘影响因素。结果　多因素Logistic回归分析显示,吸烟（OR＝1.88,95% CI:1.28～2.96）、家族支气管哮喘史（OR＝6.20,95% CI:2.10～18.31）、家中铺有纯毛地毯数量多（OR＝1.87,95% CI:1.18～2.95）,睡眠质量（OR＝1.46,95% CI:1.22～1.75）,患慢性支气管炎（OR＝13.43,95% CI:6.65～25.34）及过敏性鼻炎（OR＝6.27,95% CI:3.63～10.81）是维吾尔族成人支气管哮喘的主要影响因素。结论　维吾尔族成人支气管哮喘是生活方式、环境及遗传等多种因素共同作用的结果,应加强对相关影响因素的预防及治疗,减少哮喘的发生,改善哮喘患者生活质量。     

周围神经源性良性肿瘤的超声特性

目的通过分析周围神经源性良性肿瘤的超声特性,评价超声在周围神经源性良性肿瘤中的诊断作用。方法采用回顾性调查方法收集2000—2011年我院收治的有完整临床资料的良性周围神经肿瘤65例患者的术前超声检查、手术图片及病理检查结果,其中58例肿瘤患者同时包含彩色多普勒超声检查结果,由2位有丰富临床经验的超声影像医师对患者的术前超声图像进行回顾分析,评估肿瘤超声特性包括肿瘤的形状、大小、边界、包膜、内部回声特性、后方回声情况与周围神经的关系以及血流情况。结果本组65例良性周围神经源性肿瘤70处病变的超声检查结果显示42处病变(60%)为内部回声均匀的实质性低回声结构;28处病变(40%)为回声不均的低回声结构,其中18处(26%)病变为低回声结构内部可见高回声区,10处(14%)病变为低回声结构内部可见液性暗区;36处病变与知名周围神经相连。58例肿瘤彩色多普勒超声检查显示24例肿瘤(41%)有丰富血流信号,22例肿瘤(38%)有少量血流信号,12例(21%)肿瘤无血流信号。65例患者70处病变均行手术切除,术中见54处病变来源于知名的周围神经,16处病变位于肌肉内,无知名神经纤维连结。超声检查显示病变与神经相连的阳性率为67%(36/54)。65例肿瘤手术切除后病理检查结果显示,62例肿瘤为神经鞘膜瘤,2例为神经纤维瘤,1例为神经纤维瘤病。结论超声检查能提供良性神经源性肿瘤较详细的形态、内部结构、边界、包膜以及肿瘤与周围组织的关系的信息,还能显示肿瘤与周围神经的联系以及血流情况等,检查方便易行,检查费用低廉,患者易于接受。