肾病综合征患儿白细胞介素13的表达与病理形态的关系

目的 :探讨白细胞介素 13 (IL 13 )在小儿原发性肾病综合征 (NS)中的变化及其与病理形态之间的关系。　 方法 :应用逆转录 多聚酶链反应 (RT PCR)及双抗体夹心ELISA法检测了NS患儿外周血单个核细胞IL 13mRNA及蛋白水平的变化 ,并分析其与病理形态改变的关系。　 结果 :原发性NS患儿肾病期IL 13mRNA与蛋白水平均显著高于正常对照组 ( 0 4 6± 0 15vs 0 3 6± 0 16,P <0 0 5和 4 8 2 0± 15 90ng/Lvs 3 5 2 2± 4 4 2ng/L ,P <0 0 1) ,缓解期与正常对照组相比差异不显著。IL 13表达与患儿肾脏病理形态改变存在一定的关系 ,以系膜增生性肾小球肾炎和IgA肾病最为明显。　结论 :Th1/Th2细胞免疫功能失衡在原发性NS发病过程中发挥着重要作用 ,IL 13在体内可能具有一定的抗炎作用     

细叶杜香化学成分研究（Ⅰ）

目的 研究细叶杜香Ledum palustre全草的化学成分。方法 采用硅胶柱色谱和高效液相色谱法等分离方法,对细叶杜香正己烷萃取物的化学成分进行分离并经波谱数据分析鉴定化合物的结构。结果 从细叶杜香全草无水乙醇提取液正己烷萃取物中分离得到13个化合物,分别鉴定为大戟醇乙酰酯（1）、lanosta-8,24-dien-3-one（2）、蒲公英萜酮（3）、泪杉醇（4）、（24S）-豆甾-4-烯-3-酮（5）、大戟醇（6）、异海松酸（7）、醋酸落叶松酯（8）、28-羟基-羽扇豆酮（9）、β-谷甾醇（10）、异水菖蒲二醇（11）、古柯二醇（12）、熊果醇（13）。结论 化合物2、4～9、11、12为首次从杜香属植物中分离得到。     

Karl Lisch,MD: Remembered July 24, 1907 - February 5, 1999

Purpose: To report a novel VMD2 gene mutation in a Japanese family with Best disease and the clinical phenotype of the patients. Patients and methods: Mutational analysis for VMD2 was performed by direct sequencing in two members of a Japanese family with Best disease. Clinical examination included visual acuity, electro-oculography (EOG), and fundus examination. Results: A T990C mutation of the VMD2 gene was found in the 20-year-old boy and his 47-year-old mother. The boy had bilateral vitelliform cyst-like lesions in both eyes and showed a pathological Arden ratio of 1.0 on EOG. The mother had a normal fundus appearance with an Arden ratio of 1.0 on EOG. Conclusion: A novel disease-causing mutation in the VMD2 gene (T990C) was found in Japanese patients with Best disease.     

Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare disorder of childhood that has clinical and laboratory similarities to other, more common conditions. Prompt recognition is required as delays in therapy are associated with significant morbidity and failure to treat may lead to death. While the principles of treatment have not changed, enormous progress in the genetic and molecular understanding has taken place. Emerging treatment options may offer some hope of improved quality of life in future. We describe a Chinese patient with cTTP which resulted from two previously undescribed mutations in the ADAMTS13 gene. Pediatr Blood Cancer 2012; 59: 1296–1298. © 2012 Wiley Periodicals, Inc.