内蒙古地区慢性粒细胞白血病患者HLA-DRB1基因多态性的研究

目的为研究内蒙地区汉族人群人类白细胞抗原（human leukocyte antigen,HLA）DRB1基因与CML白血病的相关性。方法采用Luminex流式技术-序列特异性寡核苷酸探针反向杂交（flow cytometry-sequence specific oligonucle-otide probe,FLOW-SSOP）方法对内蒙地区39例慢性粒细胞白血病chronic myeloid leukemia,CML）患者HLA-DRB1等位基因多态性进行分析,以北方地区健康群体资料作为正常对照。结果在HLA-DRB1等位基因中,CML白血病组中DRB1＊1001,＊16XX等位基因频率高于对照组（0.593%,0.603%,P〈0.05）。结论 DRB1＊1001,DRB1＊16XX等位基因与CML相关联,可能是易感基因。     

Epstein Barr virus latent membrane protein-1 in Hodgkin's lymphoma in Nigerians

Background

The burden of lymphomas on the health care system in Nigeria is enormous. Correct diagnosis and identification of aetiological factor are important steps in reducing this burden.

Methods

Eight cases diagnosed as HL within a period of six years at the Obafemi Awolowo University teaching Hospital, Ile-Ife, Nigeria by haematoxylin and eosin (Hand E) only were immunophenotyped using the indirect immunoperoxidase method. Epstein-Barr virus latent membrane protein-1 (LMP-1), CD15 and CD30 immunohistochemistry was also performed. The clinical characteristics of each patient were documented.

Objectives

To document the frequency of involvement of Epstein-Barr virus in cases of HL seen in a university hospital in Nigeria.

Results

Out of the eight cases diagnosed by H&E as HL immunophenotyping showed only five were HL. The rest were non-Hodgkin''s lymphoma (2 diffuse large B-cell and 1 null cell ALCL). All were cases of classical HL with 60% being of the mixed cellularity (MC) subtype. There were 2 males and 3 females with ages ranging from 7 years to 40 years. All presented with cervical lymphadenopathy and three had splenomegaly in addition. 60% of the tumour was EBV positive, all of the MC subtype. Three patients had chemotherapy. Eventually all were lost to follow-up. There was no case of the nodular lymphocyte predominance variant.

Conclusion

Mixed cellularity is the most common subtype and is the only subtype associated with EBV positivity in this study. Epstein-Barr virus probably plays an important role in the aetiology of HL in Nigerians.Running title: Epstein-Barr virus, Hodgkin''s lymphoma in Nigerians     

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future.     

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

A 9.7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD) locus of the X chromosome has duplicated to specific locations near the pericentromeric regions of human chromosomes 2p11,10p11, 16p11 and 22q11. Comparative sequence analysis reveals 92-96% nucleotide identity, indicating that the autosomal ALD paralogs arose relatively recently during the course of higher primate evolution (5-10 million years ago). Analysis of sequences flanking the duplication region identifies the presence of an unusual GCTTTTTGC repeat which may be a sequence-specific integration site for the process of pericentromeric- directed transposition. The breakpoint sequence and phylogenetic analysis predict a two-step transposition model, in which a duplication from Xq28 to pericentromeric 2p11 occurred once, followed by a rapid distribution of a larger duplicon cassette among the pericentromeric regions. In addition to facilitating more effective mutation detection among ALD patients, these findings provide further insight into the molecular basis underlying a pericentromeric-directed mechanism for non- homologous interchromosomal exchange.      

5-脂氧合酶激活蛋白抑制剂MK886对人食管癌细胞系增殖和凋亡的影响

目的 5-脂氧合酶活化蛋白（FLAP）抑制剂MK886对人食管癌细胞系（KYSE-150和TE-3）增殖和凋亡的影响及作用机制。方法用2.5、5、10、20、40和80μmol/L的MK886干预体外培养的KYSE-150和TE-3细胞;xCELLigence RTCA系统实时测定细胞增殖抑制率,同时确定半数抑制浓度(IC₅₀)。流式细胞测量术检测食管癌细胞的细胞周期。Western blot检测细胞凋亡和自噬相关蛋白的表达。结果人食管癌细胞系（KYSE-150和TE-3）的增殖抑制率随着MK886浓度增加而增强（P<0.05）,KYSE-150组的IC₅₀浓度为29.11μmol/L,TE-3组的IC₅₀浓度为27.47μmol/L。当MK886浓度增加至25μmol/L时,食管癌细胞G₀/G₁期滞后增加明显（P<0.001）,MK886处理浓度增加到50μmol/L时,食管癌细胞G₂/M期增加明显（P<0.001和P<0.05）...     

精神障碍患者自我面孔识别的行为特征与异常神经活动

自闭症、精神分裂症、抑郁障碍等精神障碍患者均表现出自我面孔识别缺陷。行为特征包括识别困难、错误率更高、反应速度更慢、速度加工优势消失、知觉加工受损及认知评价与情绪反应失调等;神经活动异常出现在自我面孔识别的各个加工阶段,涉及面孔结构编码相关的枕颞皮层、自我参照加工相关的皮质中线结构、认知控制有关的额顶控制网络以及情绪加工相关的脑岛等脑区。元分析结果揭示精神障碍患者额下回、内侧前额叶、海马旁回和脑岛等脑区活动存在异常。未来研究应结合时间和空间信息数据并关注脑区间协同功能的损伤,关注各类精神障碍患者自我面孔识别的共同特征及其独特性,并发掘自我面孔识别在精神障碍早期诊断中的潜在价值。     

《医院会计制度》修订应体现行业特点

随着公共财政体制各项政策的建立,医疗卫生体制改革的不断深入,对10年前制定的医院会计制度进行适时修订,能够满足推进公立医院改革和加强公立医院财务管理的需要。但《医院会计制度》的修订,不宜过度借鉴国际通行做法和企业会计制度经验,应体现我国医院行业的特点,才能指导会计核算工作,增加适应性和可操作性。     

成人阻塞性睡眠呼吸暂停低通气综合征患者的人格特征分析

目的　调查成人阻塞性睡眠呼吸暂停低通气综合征（OSAHS）患者的人格特征及生活质量,了解该患病群体的心理健康情况。方法　采用明尼苏达多项人格测量表（Minnesota multiphasic personality inventory,MMPI）和简明健康状况调查表（the MOS item short from health survey,SF-36）分别对98例成人OSAHS患者及100例单纯鼾症志愿者进行问卷调查,评价OSAHS患者的人格特征及生活质量情况并进行对照性研究。结果　在MMPI调查中,OSAHS患者在抑郁、疑病、精神衰弱、情绪不稳定、精神分裂临床量表T分高于单纯鼾症组,差异具有统计学意义（P＜0.05）,其中OSAHS组中女性患者的抑郁、疑病、精神衰弱、情绪不稳定、精神分裂、社会内向临床量表T分高于男性患者,差异具有统计学意义（P <0.05）。在SF-36调查中,OSAHS患者在生理职能、一般健康状况、躯体疼痛、精力、社会功能、情感功能、精神健康7个维度的平均评分低于单纯鼾症组,差异具有统计学意义（P＜0.05）。结论  OSAHS患者有较多的心理健康问题,表现更多的易疲劳、注意缺陷,生活质量更低,OSAHS病情越重,心理健康问题越大,女性患者尤重。     

头颈部侵袭性纤维瘤9例及文献复习

目的:探讨头颈部侵袭性纤维瘤的临床表现、病理特征、治疗方式及预后.方法:根据2005年世界卫生组织的肿瘤类指导原则,回顾性分析2008 ～ 2012年间收治9例头颈部侵袭性纤维瘤的临床资料并复习相关文献.结果:发病部位以颈部(3例)、下颌下区(2例)最为常见,其次是上颌骨、颧部、眶下区、腮腺各1例,对9例患者都实施手术切除,4例患者因肿瘤已侵犯头颈部重要结构,无法获得阴性切缘,其中1例患者发生恶变,接受放射治疗,另2例术后未接受综合治疗,术后复发,所有病例无远处转移,随访时间为6 ～51个月.结论:头颈部侵袭性纤维瘤诊断主要依靠术后病理,彻底手术切除是治疗并减少复发的主要手段,对于复发或难以完整切除的病例可配合放化疗,且术后长时间密切随访.     

Damon-Ⅲ矫治器治疗安氏Ⅱ类1分类错畸形患者硬组织变化的研究

目的探讨Damon-Ⅲ自锁托槽矫治技术治疗安氏Ⅱ类1分类错畸形患者治疗前后的硬组织变化。方法选择采用Damon-Ⅲ自锁托槽矫治技术和MBT矫治技术治疗的安氏Ⅱ类1分类错畸形患者各20例,均采用减数4颗第一前磨牙的治疗方案,未额外使用增强支抗的装置,治疗前后拍摄患者头颅侧位X线片并进行测量。结果2组患者治疗后,上下颌骨矢状向变化不明显,垂直向有增大的趋势,差异有统计学意义;2组患者牙性指标均有变化,但略有不同。结论Damon-Ⅲ自锁托槽矫治技术和MBT矫治技术均可快速高效地治疗安氏Ⅱ类1分类错畸形,后牙支抗消耗较少,但是Damon-Ⅲ自锁托槽矫治技术使患者的前牙转距丧失较多。