临沂市尘肺合并肺结核调查分析

目的 探讨尘肺合并肺结核的发病特点。方法 对历年来职业病档案中的现患及死亡病例逐个核实统计。结果 ①单纯尘肺560例,尘肺合并肺结核156例,合并率为21．79%。②退伍工程兵合并结核病死亡率高于厂矿企业工人。③尘肺合并肺结核死亡高于其他疾病。结论 ①尘肺合并肺结核率随期别的增加而显著增高;②尘肺合并肺结核发病率随年代的增加而降低;③尘肺合并肺结核死亡率高于单纯尘肺死亡率,随尘肺期别的增加而增高;④尘肺合并肺结核死亡所占比例随年代的增加而显著降低。     

神经精神狼疮26例临床分析

目的 了解神经精神狼疮（ＮＰＬＥ）的临床特征及治疗转归。方法 回顾１９９２～１９９８年在本院风湿科诊治的２６例神经精神狼疮的临床资料。结果 ２６例ＮＰＬＥ患者５０％在起病１年内发病,有器质性脑病综合征１１例,脑血管意外２例,癫痫４例,狼疮性头痛２例,精神症状或精神病７例。１９例重症ＮＰＬＥ中,１２例给予甲基强的松龙冲击加免疫抑制剂治疗后１０例病情缓解,２例死亡;７例单用甲基强的松龙冲击治疗者４例缓     

Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1

PurposeMost patients with Gaucher disease have progressive and often disabling skeletal manifestations. We examined the long-term effect of eliglustat treatment on bone outcomes in clinical trials in adults with Gaucher disease type 1.MethodsData from 4 completed phase 2 and 3 trials were evaluated in treatment-naïve patients or patients switching to eliglustat from enzyme replacement therapy (ERT).ResultsOverall, 319 of 393 (81%) eliglustat-treated patients remained in their trials until completion or commercial eliglustat became available. Mean eliglustat treatment duration ranged from 3.3 to 6.5 years. In treatment-naïve patients and ERT-switch patients, frequency and severity of bone pain decreased during eliglustat treatment. Mean lumbar spine T-scores shifted from abnormal to normal in treatment-naïve patients and remained in the healthy reference range or improved modestly in ERT-switch patients. Mean total bone marrow burden score shifted from marked-to-severe to moderate in treatment-naïve patients and remained moderate in ERT-switch patients. MIP-1β (marker of active bone disease) was elevated at baseline and decreased to the healthy reference range in treatment-naïve patients and remained in the healthy reference range among ERT-switch patients.ConclusionThese findings confirm the long-term efficacy of eliglustat on skeletal complications of Gaucher disease in treatment-naïve and ERT-switch patients.     

Informational needs of individuals from families harboring BRCA pathogenic variants: A systematic review and content analysis

PurposePersonalized information is paramount to patient-centered communication and decision-making regarding risk management in hereditary cancer syndromes. This systematic review identified information needs of individuals from families harboring BRCA pathogenic variants and compared findings based on gender (women vs men) and clinical characteristics (patients with cancer vs previvors and BRCA heterozygotes vs untested relatives).MethodsWe screened 8115 studies identified from databases and citation searching. The quality of selected studies was assessed using the Mixed Methods Appraisal Tool. Narrative synthesis was conducted based on content analysis.ResultsFrom 18 selected studies including 1063 individuals, we identified 9 categories of information needs. Risk of bias in the selected studies was moderate. Men, untested relatives, and racial and ethnic minorities were underrepresented. Frequently required information was personalized cancer risk and risk-reducing strategies, including decision-making, family implications of hereditary cancers, psychological issues, and cascade testing. Subgroup analyses showed that information needs depended on gender, personal cancer history, and cascade testing in relatives.ConclusionWe identified comprehensive and detailed informational needs of individuals from families harboring BRCA pathogenic variants and gaps in international guidelines. Needs for personalized information varied based on gender, health, and genetic testing status. Findings of this study have implications for genetic counseling, tailoring educational materials, and personalizing interventions.     

eyeVarP: A computational framework for the identification of pathogenic variants specific to eye disease

PurposeDisease-specific pathogenic variant prediction tools that differentiate pathogenic variants from benign have been improved through disease specificity recently. However, they have not been evaluated on disease-specific pathogenic variants compared with other diseases, which would help to prioritize disease-specific variants from several genes or novel genes. Thus, we hypothesize that features of pathogenic variants alone would provide a better model.MethodsWe developed an eye disease–specific variant prioritization tool (eyeVarP), which applied the random forest algorithm to the data set of pathogenic variants of eye diseases and other diseases. We also developed the VarP tool and generalized pipeline to filter missense and insertion-deletion variants and predict their pathogenicity from exome or genome sequencing data, thus we provide a complete computational procedure.ResultseyeVarP outperformed pan disease–specific tools in identifying eye disease–specific pathogenic variants under the top 10. VarP outperformed 12 pathogenicity prediction tools with an accuracy of 95% in correctly identifying the pathogenicity of missense and insertion-deletion variants. The complete pipeline would help to develop disease-specific tools for other genetic disorders.ConclusioneyeVarP performs better in identifying eye disease–specific pathogenic variants using pathogenic variant features and gene features. Implementing such complete computational procedure would significantly improve the clinical variant interpretation for specific diseases.     

恙虫病63例临床分析

目的 为了进一步了解恙虫病的临床特点。方法 对63例恙虫病的临床资料进行回顾性分析。结果 所有病例均有持续较长时间的发热并伴不同程度的毒血症，出现焦痂溃疡60例(95％)，淋巴结肿大40例(63％)，皮疹32例(51％)，两个以上脏器损害48例(76％)，多器官功能衰竭7例(11％)；白细胞计数正常或偏低者占70％。及时使用特效抗生素治疗有良效。结论 著虫病的临床表现多样化，早期诊断和及时治疗对预后十分重要。     

288例老年呼吸道感染患者病原菌分布特性及药敏分析

目的: 了解老年呼吸道感染患者病原菌的分布特点及药敏特性.方法: 对288例老年呼吸道感染患者痰样本(NCCLS法)进行细菌培养,K-B纸片法进行药敏测定.结果: 患者痰中共检出病原菌400株,细菌280株,其中G-杆菌147株,占36.75%, G 球菌133株,占33.25%.肺炎克雷伯菌及铜绿假单胞菌最敏感药的是头孢他啶,敏感率均为40%以上,肺炎链球菌和金黄色葡萄球菌最敏感药的是万古霉素;检出真菌120株,占30%,以白色念珠菌为主.结论: 进行病原菌跟踪监测及时的药敏试验,对及时控制老年呼吸道感染,是不可缺少的重要环节.     

医院病原菌分布特征及耐药谱的研究

目的 :了解医院病原菌分布情况及耐药趋势 ,为临床用药和控制医院内感染提供科学依据。方法 :统计分析2 0 0 3年 1月至 1 2月间医院病原菌的分离结果及药敏试验结果。结果 :1 1 2 8株 (6 0种 )病原菌中 ,真菌 4 5 3株 ,占 4 0 .1 6 %;革兰阴性菌 4 2 7株 ,占 37.85 %;革兰阳性菌 2 4 8株 ,占 2 1 .99%.医院病原菌依次为白色念珠菌、大肠埃希菌、溶血葡萄球菌、铜绿假单胞菌、表皮葡萄球菌及热带念珠菌等。药敏试验结果显示 ,革兰阳性菌存在广泛耐药性 ,其首选药为万古霉素 ;革兰阴性菌对第 3代头孢菌素的耐药率已在 5 0 %左右 ,有的甚至高达 90 %以上 ,治疗革兰阴性菌感染的首选药为舒普深 ;真菌对益康唑和酮康唑也产生了一定的耐药性 ,其首选药物为制霉菌素和咪康唑。结论 :医院病原菌以真菌为主 ,以白色念珠菌多见。病原菌耐药性广泛 ,临床上应在药敏指导下合理使用抗生素 ,以减少耐药菌株的产生和降低院内感染。     

儿童病毒性脑炎62例临床及病毒病原学分析

目的　探讨不同年龄组儿童病毒性脑炎临床表现差异及脑脊液病毒病原学特点。方法　选取首都儿科研究所2 0 0 2年 1月至 2 0 0 3年 2月收治的 6 2例病毒性脑炎患儿 ,根据年龄分为A组 ( <3岁 )、B组 ( 3～ 6岁 )、C组 ( >6岁 ) 3组。 ( 1)分析不同年龄组临床表现特点。 ( 2 )应用多重引物PCR方法对脑脊液进行病毒病原学检测 ,包括肠道病毒 (EV)、疱疹病毒 (HSV)Ⅰ、Ⅱ型、EB病毒、巨细胞病毒 (CMV) 5种。结果　 ( 1) 3组患儿均有发热、嗜睡、烦躁、淡漠等症状 ;其他伴随症状 :A、B两组患儿中 2 4例 ( 6 2 5 % )伴有惊厥 ,C组中 2 2例 ( 95 7% )伴随头痛。 ( 2 )脑脊液病毒病原检测阳性者 39例 ( 6 2 9% ) ,其中EV 18例 ( 4 6 2 % ) ,HSVⅡ型 9例 ( 2 3 1% ) ,CMV、EB病毒各 6例 (各 15 4 % ) ,HSVⅠ型未检出。结论　 ( 1)除发热、嗜睡以外不同年龄组病毒性脑炎患儿伴随症状不同。 ( 2 )应用多重引物PCR方法早期检测脑脊液病毒病原阳性率较高     

幽门螺杆菌中国菌株致病相关基因cagA、iceA、vacA及HP0519分布分析

目的分析中国不同人群及不同胃部疾病病例来源的幽门螺杆菌致病相关基因cagA、iceA、vacA及HP0519的分布.方法采用特异引物聚合酶链式反应（PCR）方法分析150株幽门螺杆菌上述基因的多态性分布特点,并对其分布作初步统计分析.结果93%（139/150）中国菌株cagA基因3′端重复序列的PCR产物具有东方菌株特征.75%（113/150）菌株iceA基因为iceA1,19%（29/150）为iceA2,不同地区间iceA基因的分布差异无统计学意义.云南菌株iceA1、iceA2的分布与菌株分离个体的种族特点及临床疾病类型无显著关系.96%中国菌株（144/150）vacA基因s区的等位基因为s1;m区等位基因m2、m1b和m1b-m2的比例分别为57%（85/150）、27%（41/150）和11%（16/150）,仅2株福建菌株为m1a.不同地区间vacA s1、m2、m1b分布的差异无统计学意义.云南菌株m1b-m2的分布高于福建和北京菌株.云南菌株vacA s区等位基因的多样性与分离个体的种族及临床疾病类型无显著关系.vacA m区等位基因的多样性与分离个体的临床疾病类型无显著关系,但不同民族间m2的分布有显著差异,白族人群m2的分布显著少于汉族和纳西族.93%（140/150）的中国菌株HP0519基因具有24 bp和15 bp DNA插入和缺失的多态性特点.不同地区间HP0519基因的多态性无显著不同.云南菌株HP0519的多态性与菌株分离个体的临床疾病类型无显著关系,但来源不同民族菌株的HP0519基因存在差异.结论幽门螺杆菌中国菌株cagA 3′端JF/TR特异引物的扩增结果具有东亚菌株特点.中国菌株vacA基因多为s1,其分布与菌株分离个体的临床疾病类型无关.中国菌株vacA基因m区的分布具有多样性.中国菌株HP0519基因具有24 bp和15 bp插入和缺失的多态性特点.