Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals

Identification of deleterious variants in hereditary breast and ovarian cancer (HBOC) susceptibility genes allows for increased clinical surveillance and early detection, and could predict the response to poly (ADP‐ribose) polymerase (PARP) inhibitor in patients with advanced ovarian carcinomas. To determine the prevalence and clinical prediction factors for HBOC syndrome, 882 selected individuals underwent multigene panel testing for HBOC risk assessment during the period from January 2015 to March 2018. Overall, 176 deleterious mutations were observed in 19.50% (n = 172) of individuals. Twenty‐six of 176 mutations could not be retrieved in related public databases and were considered to be novel. Among patients with ovarian cancer, 115 deleterious mutations were identified in 429 patients (48.6%) with significant enrichment for a family history of breast or ovarian cancer syndrome (P < .05). In the breast cancer subgroup, 31 deleterious mutations were identified in 261 patients. Besides BRCA1 (8; 25.8%) and BRCA2 (11; 35.5%), the most frequently occurring genes, an additional 12 deleterious mutations (38.7%) were found in seven other susceptibility genes. Higher mutation incidence (57.9%) was observed in subjects with histories of breast and ovarian cancer. Our results highlighted the genetic heterogeneity of HBOC and the efficiency of a multigene panel in carrying out risk assessment.     

皮肤再生医疗技术治疗糖尿病足溃疡疗效分析

目的:分析、总结、探讨皮肤再生医疗技术在临床上治疗糖尿病足溃疡的可行性与有效性。方法:对32例糖尿病足溃疡住院病人采用皮肤再生医疗技术为主、必要时配合植皮的治疗方法进行局部创面修复。结果:32例糖尿病足溃疡应用皮肤再生医疗技术获得修复9例(占28.1％),皮肤再生医疗技术 皮片移植12例(占37．5％),皮肤再生医疗技术 皮瓣修复5例(占15．6％),进行截肢6例(占18．8％)。结论:及时就诊、及时采用皮肤再生医疗技术为主的治疗方法能有效修复溃疡创面、降低糖尿病足截肢率。     

营养支持在重症心脏瓣膜病外科的临床应用

目的 探讨营养支持在重症心脏瓣膜病外科治疗中的作用。方法2000年5月-2005年5月对182例重症心脏瓣膜病行瓣膜置换术，围术期采用营养支持疗法。其中单瓣病变74例，二尖瓣合并主动脉瓣病变108例。135例行三尖瓣成形术，37例行左房折叠术。结果 182例住院死亡5例，死亡率2.7%，术后并发低心排15例，死亡1例，随访151例，结论 科学的应用营养支持方案，可以明显地提高重症心脏瓣膜病外科手术成功率。     

构建数字化、可视化教学平台实现妇产科学教学手段多元化

介绍了构建数字化、可视化教学平台,实现妇产科教学手段多元化的做法。内容包括多媒体课件开发制作,利用医学视听教材,建设妇产科图片数据库,建设妇产科标本库(馆),利用模型、模块进行模拟操作,加强实践技能培养和通过临床见习、实习将理论应用于实践等问题。     

Pick’s disease with Pick bodies combined with progressive supranuclear palsy without tuft‐shaped astrocytes: A clinical,neuroradiologic and pathological study of an autopsied case

We report clinical, neuroradiologic features, and neuropathologic findings of a 76‐year‐old man with coexistent Pick’s disease and progressive supranuclear palsy. The patient presented with loss of recent memory, abnormal behavior and change in personality at the age of 60. The symptoms were progressive. Three years later, repetitive or compulsive behavior became prominent. About 9 years after onset, he had difficulty moving and became bed‐ridden because of a fracture of his left leg. His condition gradually deteriorated and he developed mutism and became vegetative. The patient died from pneumonia 16 years after the onset of symptoms. Serial MRI scans showed progressive cortex atrophy, especially in the bilateral frontal and temporal lobes. Macroscopic inspection showed severe atrophy of the whole brain, including cerebrum, brainstem and cerebellum. Microscopic observations showed extensive superficial spongiosis and severe neuronal loss with gliosis in the second and third cortical layers in the frontal, temporal and parietal cortex. There were Pick cells and argyrophilic Pick bodies, which were tau‐ and ubiquitin‐positive in neurons of layers II–III of the above‐mentioned cortex. Numerous argyrophilic Pick bodies were observed in the hippocampus, especially in the dentate fascia. In addition, moderate to severe loss of neurons was found with gliosis and a lot of Gallyas/tau‐positive globus neurofibrillary tangles in the caudate nucleus, globus pallidus, thalamus, substantia nigra, locus coeruleus and dentate nucleus. Numerous thorned‐astrocytes and coiled bodies but no‐tuft shaped astrocytes were noted in the basal ganglion, brainstem and cerebellar white matter. In conclusion, these histopathological features were compatible with classical Pick’s disease and coexistence with progressive supranuclear palsy without tuft‐shaped astrocytes.     

邹城市预防艾滋病健康教育效果评价

目的评价预防艾滋病健康教育与行为干预效果。方法采用问卷方式对社区居民进行预防艾滋病信息的可及性及知信行的调查。结果社区居民艾滋病知晓率为97.41%,熟悉艾滋病传播途径的87.78%,62.78%的认为艾滋病病人或感染者和正常人享有一样的入学/就业权,38.70%的人愿意与感染艾滋病的同事继续共事,60.19%的人愿意与感染艾滋病的家人继续共同生活,最近3次性行为100%使用安全套者为26.48%,82.04%的人有医疗用血安全意识,64.81%的人有医疗器械安全意识。最想获取艾滋病预防措施、传播途径、病理知识、症状表现、治疗方法、检测途径及检测方法、疫情信息,新闻、电视公益广告、专题报道、反映艾滋病病人生活的电影或电视剧、科普材料、大型公益演出人们最喜欢。结论政府重视,多部门合作,组织机构健全,宣传教育广泛,干预措施到位,成效显著。     

"催眠态"与"气功态"脑运动皮质低频活动差异的初步研究

目的:研究催眠态和气功态下脑运动皮质的低频同步活动,探讨催眠态与气功态对脑功能皮质活动的不同效应。材料和方法:研究对象为1例28岁的健康女性志愿者,右利手。采用气功入静和催眠诱导分别进入气功态和催眠态。研究采用GEsigna VH/i3.0T磁共振扫描机,先后进行无任务(静息态、催眠态和气功态)和运动任务的BOLD序列扫描。图像的处理先以运动任务获得的运动皮质定位作为种子对三种状态的功能图像做交互相关分析,获得脑功能连接的激活图,然后对这些激活的体素采用功率谱分析,获得相应的优势频率和能量。结果:脑功能低频连接激活体素的数量在静息态、催眠态、气功态间没有明显差异,但通过功率谱分析,催眠态主要表现为优势频率能量的升高,而气功态则主要表现为优势频率的增加。结论:气功态和催眠态下脑运动皮质的低频活动存在一定的差异,提示两种状态有通过不同的途径产生效应,但其生理基础有待于进一步研究。     

溃疡性结肠炎患者外周血中性粒细胞凋亡与粘附分子水平的关系及意义

目的　探讨溃疡性结肠炎 (U C)患者外周血中性粒细胞 (PMN)凋亡机制。方法　采用流式细胞术检测 32例 UC患者外周血 PMN凋亡 ,EL ISA法检测 P-选择素 (P- sel)和细胞间粘附分子 - 1(ICAM- 1)的水平。结果　活动期 UC患者 PMN凋亡率明显低于对照组和缓解期 UC患者 (P<0 .0 1)。不同病情活动期 U C患者 PMN凋亡有显著性差异 (P<0 .0 1)。活动期 UC患者外周血中 P- sel和 ICAM- 1水平均高于对照组和缓解期 U C患者(P<0 .0 1或 (P<0 .0 5 ) ,且与 PMN凋亡呈负相关 (r值分别为 - 0 .72 38和 - 0 .5 2 13,P均 <0 .0 1) ,与病情呈正相关。结论　各种免疫细胞粘附分子表达上调可能是导致 UC患者 PMN凋亡延迟的重要机制     

快速供肝切取与修整的外科技巧

目的总结肝脏移植供肝的快速切取和修整经验。方法分析2004年共186例快速供肝的切取和修整的资料。快速切取技术采用原位腹主动脉、肠系膜上静脉灌注附加下腔静脉引流，快速切取供肝，4℃UW液中保存和修整肝脏。结果供肝热缺血时间为3～10min，平均4．5min；冷缺血时间平均为3-16h，平均7h。供肝的修整时间为26～90min，平均46min。供肝修整时发现肝动脉解剖变异20例。结论快速供肝切取法要求术者技术娴熟、动作迅速和准确，可最大限度地减少供肝热缺血时间。快速切取法能保证供肝的质量和确保供肝切取的成功。