Heavy chain diseases

Heavy chain diseases (HCDs) are rare B-cell lymphoplasma-cell proliferative disorders characterized by production of truncated monoclonal immunoglobulin heavy chains without associated light chains. HCDs involving the three main immunoglobulin classes have been described; alpha-HCD is the most common and has the most uniform presentation, gamma- and mu-HCDs have variable clinical presentations and histopathologic features. HCDs can be thought of as variant types of non-Hodgkin lymphoma: alpha-HCD presents as an extranodal marginal-zone lymphoma of mucosa-associated lymph-node tissue, gamma-HCD as lymphoplasmacytoid non-Hodgkin lymphoma, and mu-HCD as small lymphocytic non-Hodgkin lymphoma or chronic lymphocytic leukemia. Diagnosis of HCD requires documentation of a deleted immunoglobulin heavy chain without a bound light chain in the serum or urine. Prognosis is variable, and no standardized effective treatment programs are available except for alpha-HCD, which in its early stage may respond to antibiotics.     

山东省黄河流域内地方性氟中毒流行病学调查

目的 了解山东省黄河流域内地方性氟中毒流行现状,为制订防治策略提供科学依据.方法 在山东省选择9个病区县进行了流行病学调查,居民饮用水含氟量测定采用氟离子选择电极法,8～12儿童氟斑牙诊断采用Dean法.结果 水氟均值≤1.00 mg/L的村占34.41%(606/1761);＞1.00 mg/L的村占65.59%(1155/1761);水氟最大值为11.33 mg/L.水氟均值≤1.00 mg/L的改水降氟工程占72.65%(449/618):＞1.00mg/L的改水降氟工程占27.35%(169/618);水氟最大值为5.85 mg/L.8～12岁儿童氟斑牙总患病率为45.03%(25 579/56 804),氟斑牙指数为0.80.结论 山东省黄河流域内50.00%以上的村庄水氟超过国家标准(≤1.00 mg/L),地方性氟中毒的流行尚未得到有效控制,须尽快落实防治措施.     

系统性红斑狼疮与高同型半胱氨酸血症的临床研究

目的　观察系统性红斑狼疮 (SLE)患者血浆中同型半胱氨酸 (Hcy)水平 ,分析影响Hcy的因素和某些心血管因素的变化。 方法　测定 2 7例SLE和 31名正常对照的Hcy、维生素B12 、叶酸、C反应蛋白 (CRP)、氧化低密度脂蛋白 (oxLDL)、一氧化氮 (NO)、丙二醛 (MDA)的水平和亚甲基四氢叶酸还原酶 (MTHFR)基因 6 77位的多态性。结果　①SLE组Hcy水平明显较对照组高 ,其差异有显著性 [SLE组 (19± 7) μmol/L ,对照组 (12± 4 ) μmol/L ,P <0 0 0 1];②Hcy与维生素B12 、叶酸呈负相关 ,相关系数分别为 - 0 76 7和 - 0 6 7,P <0 0 0 0 1;③MTHFR基因 6 77位CT的突变使Hcy水平升高 [CC型 (12 8± 6 2 ) μmol/L ,CT型 (16 0± 2 1) μmol/L ,TT型 (18 9± 5 7) μmol/L ,P<0 0 0 1];TT基因型是高Hcy血症的易感基因 ,相对危险度 (RR) =31 4 9,P <0 0 5 ;TT基因型是SLE的易感基因 ,RR =6 913,P <0 0 5 ;④Hcy水平与NO、MDA、oxLDL呈正相关 ,并与CRP呈正相关。结论　①SLE患者普遍有高Hcy血症。②导致高Hcy血症的原因包括叶酸、维生素B12 的水平降低和MTHFR基因的突变 ,TT型基因是Hcy异常升高的易感基因。③TT型基因也是SLE的易感基因。④高Hcy血症可能通过损伤血管内皮 ,大量产生氧自由基 ,加速低密度     

自身免疫病患者外周血中B细胞激活因子基因表达水平的测定

目的　建立测定B细胞激活因子 (B lymphocytestimulator ,BlyS)mRNA含量的荧光定量反转录 聚合酶链反应 (RT PCR)法 ,并用来检测自身免疫病 [系统性红斑狼疮 (SLE)、类风湿关节炎 (RA) ]患者外周血单个核细胞 (PBMCs)中BlyS的基因表达水平 ,探讨BlyS基因表达水平与自身免疫性疾病发病机制的关系。方法　构建克隆载体 pMD18 T BlyS作为定量模板 ,基于TaqMan荧光探针技术 ,建立实时荧光RT PCR方法在GeneAmp 5 70 0型检测仪上定量检测 19例自身免疫病(SLE、RA)确诊病人、2 0例亚临床病人 (主要是抗核抗体阳性 )、8例其他对照性疾病患者 (自身抗体阴性 ,免疫球蛋白升高 )、2 0名正常健康献血者的外周血BlySmRNA表达含量。结果　 19例自身免疫病确诊病人的PBMCs中均有BlySmRNA的表达 ,范围从 9 7× 10 5～ 3 2× 10 8拷贝 /μgRNA ,均值为 (8 4± 7 9)× 10 7拷贝 /μgRNA ;2 0例亚临床病人的强度为 8 6× 10 4～ 3 8× 10 6拷贝 /μgRNA ,均值为 (1 3± 1 2 )× 10 6拷贝 /μgRNA ;2 0名正常健康人的强度为 5 5× 10 4～ 4 9× 10 5拷贝 /μgRNA ,均值为 (1 7± 1 4 )× 10 5拷贝 /μgRNA ;8例自身抗体阴性而免疫球蛋白升高的其他疾病患者的强度为 5 8× 10 5～ 3 5× 10 7拷贝 /μgRNA ,均值为 (1 2±     

特殊人群血清抗-HCV检测及甲、乙、丙型肝炎重复感染分析

目的 阐明特殊人群甲、乙、丙型肝炎病毒重复感染状况。 方法 采用ELISA法对4587例血清进行抗-HAV-IgM,HBsAg,抗-HBs,HBeAg,抗-HBe,抗-HBc,抗-HBcIgM及抗-HCV病毒标记检测。 结果 抗-HCV总阳性率为22.5％。献血员为23.1％,PTH为58.3％,AVH为4.7％,CPH为8.9％,CAH15.3％,SHF59.5％,CHF57.1％,LC22.9％和HCC31.8％;反复接受输血的血液病、尿毒症和血液透析患者阳性率分别为46.4％,23.8％和35.3％;性病为10.7％。668例肝病中HC重复感染HB阳性率为12.9％,且随肝损害程度而增高。 结论 HCV重复感染HBV,会加重肝损害,促使病情加剧。输血、使用血制品和血液透析术,是感染HCV的主要途径。     

2005年全国碘缺乏病监测资料汇总分析

目的汇总分析2005年全国32个省级建制单位碘缺乏病的监测资料。方法按人口比例概率抽样方法（PPS）进行抽样，采用国家统一的方法进行各项指标的检测，并采取相应的质量保障措施。结果全国32个省级建制单位合格碘盐食用率为90．2％．碘盐覆盖率为94．9％，8～10岁儿童尿碘中位数为246．3μg／L，8～10岁儿童甲状腺肿大率为5．0％，健康教育学生组的全国平均分为57．2分，健康教育家庭主妇组的全国平均分为82．6分，全国儿童平均智商为103．4。结论各项监测指标在国家水平上已经达标．但各省碘盐、尿碘、甲状腺肿大率以及健康教育等指标仍存在一些问题。     

两种国际诊断标准对230例药物性肝损害诊断的分析比较

目的分析比较我国药物性肝损害常用的两种国际诊断标准诊断的准确性。方法采用回顾性调查方法，总结分析引起药物性肝损害常用药物的种类。用Danan的药物性肝损害相关评价标准与Mafia评分标准，对230例药物性肝损害患者进行重新诊断，比较这两种诊断方法的差异。结果230例患者中引起药物性肝损害的常用药物依次为：中药类、抗生素、解热镇痛类、抗结核药、心血管类、保健药、精神类药、皮肤病类、降糖药等。230例患者以Danan的药物性肝损害相关评价进行诊断，有149例（64．8％）为药物引起的肝损害，不能确定的有71例（30．9％），非药物引起的肝损害有10例（4．3％）；以Maria评分标准进行诊断，确定为药物性肝损害的无一例患者，可能性大的有55例（23．9％），不能确定、仅仅为可能的126例（54．8％），可能性小的有33例（14．3％），可除外药物性肝损害的有16例（7．0％）。结论Danan的药物性肝损害相关评价标准与临床诊断符合率比Maria评分标准高，但还需进行改进修正。     

Long-term analysis of the palliative benefit of 2-chlorodeoxyadenosine for myelofibrosis with myeloid metaplasia

OBJECTIVE: Therapeutic splenectomy in myelofibrosis with myeloid metaplasia (MMM) may result in extreme thrombocytosis and leukocytosis and accelerated hepatomegaly. We previously described initial palliative benefit from 2-chlorodeoxyadenosine (2-CdA) in such instances. The purpose of this study is to provide long-term follow-up on the durability of response in the initial cohort and in additional subsequent cases. METHODS: We retrospectively identified patients with histologically confirmed MMM who had palliative therapy with 2-CdA. Clinical characteristics and information on subsequent clinical course were abstracted at the time of diagnosis of MMM and at initiation of 2-CdA therapy until death. RESULTS: To date, we have used 2-CdA as palliative therapy in 14 patients with MMM. After a median of four cycles of therapy, responses for hepatomegaly occurred in 56% of patients, thrombocytosis 50%, leukocytosis 55%, and anemia 40%. Cytopenias were frequent but usually transient and without clinical consequence. Responses occurred usually by the second cycle; median duration of response was 6 months (range, 2-19) after completion of 2-CdA therapy. CONCLUSION: This study confirmed relevant and frequently durable palliation of symptoms in about half the patients. 2-CdA is a reasonable palliative option in postsplenectomy patients with MMM who have problematic myeloproliferation.     

溴化异丙托品与氨茶碱片对支气管扩张作用的对比观察

目的比较定量雾化吸入溴化异丙托品与口服氨茶碱片对支气管扩张的作用。方法对２６例稳定期慢性阻塞性肺疾病（ＣＯＰＤ）患者采用安慰剂控制的双盲交叉试验，于试验前及试验后３０分，１，２，３，４，５，６小时分别测定第一秒用力呼气容积（ＦＥＶ１）。结果使用溴化异丙托品及氨茶碱后ＦＥＶ１平均峰值较基础值增加分别为３４％及１９％（Ｐ＜０．０１）；达峰时间分别为１～２小时及２～３小时；ＦＥＶ１较基础值增加＞１５％的患者分别为９０％及５０％（Ｐ＜０．０１）；ＦＥＶ１＞１５％的平均持续时间为３．６小时及１．６小时，６小时内ＦＥＶ１较基础值平均增加分别为１８％及８％（Ｐ＜０．０１）。结论对ＣＯＰＤ患者雾化吸入溴化异丙托品较口服氨茶碱片能更有效的扩张支气管作用     

Hepatitis C virus infection and lymphoproliferative diseases: prospective study on 1,576 patients in France

CONTEXT: Discordant data have been reported about the prevalence of hepatitis C virus (HCV) infection in patients with lymphoproliferative diseases and the putative role of HCV in lymphomagenesis. OBJECTIVE: To assess the prevalence of HCV infection in patients admitted to a hematology department in Paris, France. DESIGN: Prospective, controlled study. SETTING: University medical center. PATIENTS: 813 patients admitted to the Hematology department (164 B-cell non-Hodgkin's lymphoma, 34 Hodgkin's diseases, 107 chronic lymphocytic leukemia, 54 multiple myeloma, 12 Waldenstr?m's macroglobulinemia, 17 acute lymphoblastic leukemia, 6 hairy cell leukemia, 189 myeloproliferative diseases, 6 solid organ tumors, and 224 nonmalignant diseases) and 694 patients admitted to the Internal Medicine department (control group). MEASUREMENTS: All patients were tested for antibodies to HCV by a third-generation enzyme-linked immunosorbent assay. RESULTS: HCV antibodies were detected in 20 of 813 (2.46%) patients in Hematology including 11 of 394 (2.79%) patients with lymphoproliferative diseases, 3 of 164 (1.83%) B-cell non-Hodgkin's lymphoma, 2 of 107 (1.87%) chronic lymphocytic leukemia, 1 of 54 (1.85%) multiple myeloma, 1 of 189 (0.5%) myeloproliferative diseases, and 8 of 224 (3.57%) nonmalignant hematologic diseases. HCV antibodies were detected in 3 of 694 (0.43%) patients in the control group. HCV contamination preceded B-cell non-Hodgkin's lymphoma only in 2 of 3 HCV-positive patients. CONCLUSION: The prevalence of HCV infection was low (1.83%) in patients with B-cell non-Hodgkin lymphoma. HCV seems not to play a major role in the pathogenesis of B-cell lymphoma in France. Cofactors should be stressed to explain geographical discrepancies.