安徽肥东县输入性恶性疟疾现况与特征

目的 了解肥东地区输入疟疾的流行现况与特征,为输入性疟疾防治工作提供科学依据.方法 对近几年肥东县疟疾年报表、疟疾专网报告数据、疟疾个案调查表进行统计和描述性分析.结果 肥东县近几年疟疾病例呈上升趋势,自2009年出现输入性疟疾病例,2009年、2010年输人性疟疾病例数占年疟疾发病总数的比例分别为35.29％和67....     

Three proven cases of insomnia treated by Professor JIA Chunsheng

In this paper, professor JIA Chunsheng's multiple treatment thoughts and methods for insomnia under different pathogenesis were shown through the three proven cases of insomnia, including the type of constraint fire of the liver and gallbladder, and excessive yang harassing the spirit, the type of failure of the heart and kidney to interact declined to kidney yin deficiency and the type of liver constraint transforming into fire, insufficient of the spleen and stomach, which provided physicians with experience and methods during treatment of insomnia in clinic, thus improving the clinical effect.     

柏连松诊治克罗恩病验案二则

简要总结了柏连松教授治疗疑难顽疾克罗恩病妁临床经验,并列举验案二则。本病的病机为本虚标实,本虚为脾肾亏虚,标实是湿热邪实为患,形成虚实夹杂、寒热错杂的正虚邪实之象。治宜扶正祛邪,扶正尤重健脾补中,扶邪以清化湿热最为常用,且坚持久治方能获效。     

A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases

BackgroundOur aims were to describe the first Mexican patient with abetalipoproteinemia and to perform a comparative analysis of biochemical, clinical, and genetic characteristics of 100 cases reported in the literature.MethodsWe performed biochemical and molecular screenings in a Mexican girl with extremely low lipid levels and in her family. Further, we integrated and evaluated the characteristics of the cases with abetalipoproteinemia described in the literature.ResultsOur patient is a six‐year‐old girl who presented vomiting, chronic diarrhea, failure to thrive, malabsorption, acanthocytosis, anemia, transaminases elevation, and extremely low lipid levels. MTTP gene sequencing revealed homozygosity for a novel mutation p.Gly417Valfs*12 (G deletion c.1250). With the analysis of the reported cases, 60 clinical features (14 classical and 46 non‐classical) were observed, being the most common acanthocytosis (57.5%), malabsorption (43.7%), and diarrhea (42.5%); 48.8% of the patients presented only classic clinical features, while the remaining 51.2% developed secondary effects due to a fat‐soluble vitamin deficiency. An odds ratio analysis disclosed that patients diagnosed after 10 years of age have an increased risk for presenting clinical complications (OR = 18.0; 95% CI 6.0‐54.1, p < 0.0001). A great diversity of mutations in MTTP has been observed (n = 76, being the most common p.G865X and p.N139_E140) and some of them with possible residual activity.ConclusionThe first Mexican patient with abetalipoproteinemia presents a novel MTTP mutation p.Gly417Valfs*12. Three factors that could modulate the phenotype in abetalipoproteinemia were identified: age at diagnosis, treatment, and the causal mutation.     

Evaluation of the National Prevention Program in Iran, 2007–2009: the Accomplishments and Challenges with Reflections on the Path Ahead

β-Thalassemia major (β-TM) is an inherited disease and efforts have been made in several countries to reduce the number of affected births. In the present study, we aimed to evaluate the Iranian thalassemia prevention program, considered to be an important program in the region. The time period of the present study ranges from 2007–2009, during which new thalassemic births and the relevant causes were evaluated throughout the country. A cross-sectional analytical study was conducted at the Iranian Blood Transfusion Organization (IBTO), Tehran, Iran. A questionnaire was forwarded to all blood centers of the IBTO so as to obtain information about the new cases of thalassemia and the causes of these thalassemic births. Provincial thalassemia societies also received the questionnaires so that screening and prenatal diagnosis (PND) errors would be recorded. The results showed that 755 new thalassemia cases were born during 2007–2009 with the average fall in affected thalassemia births of 80.82%. The main cause of the new births was attributed to unregistered “timeless religious marriages” based on the conventions of the Sunni community which accounted for 43.17% of all new cases mainly having occurred in Sistan & Baluchestan Province. Not using PND was evaluated to be another main cause. Although the prevention program has led to a great reduction in thalassemic births, new measures are required, including research on how to make the program compatible with social and economic conventions and norms of Sistan & Baluchestan Province. The province of Kohgiluyeh Boyer Ahmad also needs to be revisited in terms of the program efficacy.     

Combinational Analysis of FISH and Immunohistochemistry Reveals Rare Genomic Events in ALK Fusion Patterns in NSCLC that Responds to Crizotinib Treatment

IntroductionThe purpose of this study was to explore the complicated rearrangement mechanisms underlying cases with atypical and negative anaplastic lymphoma receptor tyrosine kinase gene (ALK) fluorescence hybridization (FISH) and positive immunohistochemistry (IHC) results and to stress the importance of combinational assay of these two methods in current pathological diagnosis.MethodsA total of 3128 NSCLCs were screened for ALK fusions through both FISH analysis and IHC assays with Ventana-D5F3 antibody. Fourteen cases with atypical and negative FISH results with the current criteria and positive IHC results were analyzed with targeted next-generation sequencing (NGS).ResultsOf the 3128 cases tested, 228 (7.3%) and 214 (6.8%) were ALK positive by IHC and FISH, respectively. Fourteen cases with negative and atypical FISH results all demonstrated IHC positivity. Of 2991 cases, eight (0.27%) with negative FISH results demonstrated echinoderm microtubule associated protein like 4 gene (EML4)-ALK fusions revealed by targeted NGS, and the relative abundance of fusion ranged from 0.9% to 46.8%. Three of 2991 cases (0.1%) did not exhibit any type of ALK fusions. In addition, two patients showed an isolated 5′ side signal and targeted NGS revealed two novel ALK partner genes, baculoviral IAP repeat containing 6 gene (BIRC6) and phosphatidylinositol binding clathrin assembly protein gene (PICALM). One patient showed an isolated and attenuated 3′ red signal and demonstrated a novel translocation partner with CCAAT/enhancer binding protein zeta gene (CEBPZ). Of all the patients, four received crizotinib treatment and demonstrated partial responses at the end of follow-up.ConclusionsOur study showed that patients with negative and atypical ALK FISH patterns may have positive results for IHC testing and harbor the translocation partners of EML4 or other genes. Therefore, additional testing with NGS should be conducted to explore the molecular mechanisms underlying the complicated gene rearrangement events.     

难治性狼疮性肾炎多靶点治疗前瞻性临床研究

目的以静脉环磷酰胺(CTX)冲击后续硫唑嘌呤(Aza)维持治疗为对照,前瞻性研究普乐可复(FK506)、霉酚酸酯(MMF)联合激素治疗狼疮性肾炎(LN)的疗效和安全性. 方法经肾活检诊断为Ⅳ、Ⅳ+Ⅴ、Ⅲ+Ⅴ型和Ⅴ型活动性LN 92例,男女比例为1676,年龄在12～60岁,随机分为多靶点治疗组(诱导期FK506剂量为3～4 mg/d,MMF剂量为0.75～1.0 g/d;维持期剂量FK506剂量为1.5～2.0 mg/d,MMF剂量为0.5～0.75 g/d)和CTX-Aza组[诱导期采用IVC治疗0.5～1.0 g/m2BSA,1/月,维持期予Aza治疗1～2 mg/(kg·d)].总疗程18个月,诱导期初定6个月;若6个月内未达完全缓解(CR),诱导期延长至9个月.两组患者均采用静脉甲基泼尼松龙冲击治疗后口服泼尼松[起始剂量0.6 mg/(kg·d)]治疗.主要评价指标为诱导治疗期完全缓解率(CR,定义为尿蛋白定量＜0.4 g/24h,尿红细胞＜10万/ml,无管型尿和白细胞尿,血白蛋白≥35 g/L,SCr正常或上升不超过基础值的15%. 结果(1)多靶点治疗组Ⅳ型LN诱导治疗期CR率与CTX-Aza组差异无统计学意义(75.0% vs 60.0%,P＞0.05).(2)多靶点治疗组Ⅳ+Ⅴ型LN诱导治疗期CR率显著高于CTX-Aza组(75.0% vs 16.7%.P＜0.05).并且治疗9个月时多靶点治疗组尿蛋白正常的患者比例也显著高于CTX-Aza组(72.7% vs 16.7%,P＜0.05).(3)多靶点治疗组,Ⅳ型、Ⅳ+Ⅴ型LN患者诱导治疗期CR率都较高,均为75.0%,其次是Ⅲ+Ⅴ型(66.7%).Ⅴ型LN诱导治疗期CR率最低,仅16.7%,显著低于Ⅳ型、Ⅳ+Ⅴ型LN(P＜0.05).(4)诱导治疗期由6个月延长至9个月后,多靶点治疗组Ⅳ+Ⅴ型LN、CTX-Aza组Ⅳ型和Ⅳ+Ⅴ型LN的CR率有所增加.(5)多靶点治疗组24例患者在诱导治疗完成后接受重复肾活检,结果显示肾组织AI评分均值由9.0±4.0降至2.1±1.7(P＜0.01),AI≥8分的患者比例也由75%降至4.2%(P＜0.01).同时肾组织CI评分均值由0.7±1.0增至2.2±1.3(P＜0.01),CI≥3分的患者比例从12.5%增加至37.5%(P＜0.05).(6)多靶点治疗组的不良反应包括肝酶升高、胃肠道症状、白细胞减少、感染、脱发、血压升高、糖代谢异常等,未见月经紊乱和停经报告.多靶点治疗组胃肠道症状、WBC减少、上呼吸道感染的发生率显著低于CTX-Aza组(P＜0.05);血压升高发生率则高于CTX-Aza组(17.74% vs 0%,P＜0.05). 结论多靶点诱导治疗对Ⅳ型、Ⅳ+Ⅴ型和Ⅲ+Ⅴ型LN均有显著疗效,并且不良反应较少,安全性较高.     

全国初治涂阴肺结核病例登记现状分析

目的 分析全国各省初治涂阴肺结核病例登记现状,为评价初治涂阴肺结核病例诊断质量提供依据.方法 根据2004-2005年全国结核病防治规划报表中初治涂阴和初治涂阳肺结核病例登记资料,分析各省2年初治涂阴肺结核病例登记率变化和增长幅度;统计各省及不同地区初治涂阴与初治涂阳肺结核病例登记率;对各省初治涂阴与初治涂阳肺结核病例登记率进行直线回归分析.结果 2005年全国登记初治涂阴肺结核病例316 405例,登记率为24.27/10万,各省登记率在6.01/10万～72.17/10万;2005年登记初治涂阴病例数比2004年增加了19.9%,其中2个省登记数呈负增长,其余各省登记数增长了0.5%～62.3%;2005年全国初治涂阳病例登记率是涂阴病例登记率的1.5倍,其中23个省初治涂阳病例登记率高于涂阴病例登记率,8个省相反;初治涂阴病例占初治涂阳病人登记率的比例,京津沪地区为149.28%,非项目地区为83.6%,项目地区为50.3%;对涂阳和涂阴病例登记率进行直线回归分析,回归方程y=22.342＋0.563 6x.结论 对初治涂阴肺结核患者实行免费政策后,全国涂阴肺结核病例登记率提高.但各省初治涂阴病例登记率和增长幅度以及涂阴病例登记率与涂阳病例登记率的比例悬殊.由于涂阴病例诊断困难,对于涂阴病例登记率高或增长幅度大的地区,特别在DOTS执行时间短和人力资源有限的地区,应对涂阴病例诊断质量予以进一步检查和评价.     

中国10省(市)流感成年人住院病例的临床特征及重症危险因素分析

目的 了解中国10省(市)严重急性呼吸道感染(SARI)住院病例哨点监测纳入的流感成年人住院病例的临床特征及重症危险因素。方法 对2009年12月至2014年6月中国10省(市)SARI哨点监测医院纳入的符合SARI定义的≥15岁病例进行流行病学和临床信息调查,采集呼吸道标本进行流感病毒核酸检测。按检测结果将病例分为流感住院组和非流感住院组,分析两组人口统计学信息、临床和流行病学特征,并分析重症危险因素。结果 10家哨点医院共纳入3 071例SARI成年人病例,其中实验室确诊240例(7.8%),以A(H1N1)pdm2009和A(H3N2)亚型流感病毒为主。病例年龄M为63岁,≥65岁老年人占47.1%。144例(60.0%)患有至少1种慢性基础性疾病,流感病例肺气肿比例(7.9%)高于非流感病例(3.8%),差异有统计学意义(χ²=3.963,P=0.047)。19.4%的流感育龄妇女为孕妇,240例流感病例中仅有1.1%在过去一年接种过流感疫苗。流感住院病例中咽痛、呼吸困难所占比例高于非流感住院病例。17.5%的流感病例收入重症监护室治疗,与非流感住院病例间的差异无统计学意义(P=0.160)。23.1%的流感病例在发病后使用了抗病毒药物治疗,高于非流感住院组(4.8%),差异有统计学意义(P<0.001)。流感住院病例中41.5%出现并发症,病毒性肺炎比例明显高于非流感组(P<0.001)。危险因素分析显示,发病入院时间>7 d(RR=1.673,95%CI:1.071～2.614)、患有哮喘(RR=15.200,95%CI:1.157～199.633)、免疫抑制疾病(RR=5.250,95%CI:1.255～21.960)、怀孕(RR=21.000,95%CI:1.734～254.275)是流感重症的危险因素。结论 成年人流感住院病例主要集中在≥65岁组,流感疫苗接种率极低、抗病毒药物使用不足,应推荐孕妇、老年人、慢性病病例等高危人群每年进行流感疫苗预防接种,流感住院病例应及早应用抗病毒药物。