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简介：摘要患儿女，5岁3月龄，因肢体无力3个月余入院，生长发育落后于同龄儿、严重酸中毒，低钾血症；双眼玻璃体混浊，角膜基质灰白混浊；头颅磁共振成像示双侧基底节区可见对称性斑片状致密影。基因检测发现患儿SLC4A4基因外显子区域存在1个c.145C>T杂合变异，与其父检测结果一致；内含子区域存在一个c.1499+1G>A杂合变异，与其母检测结果一致。患儿以严重的代谢性酸中毒为特点，且伴有多系统病变，应注意先天遗传代谢性疾病，尽早行基因检测。

简介：摘要收治并确诊4例经典型半乳糖血症患儿，均表现为低γ-谷氨酰转移酶型胆汁淤积，转氨酶轻度升高且天冬氨酸转氨酶>丙氨酸转氨酶，伴贫血、低蛋白血症及严重低血糖，血乳酸升高。均有凝血异常，2例为急性肝衰竭；3例有一过性甲状腺功能减低；1例有白内障；1例有脑白质弥漫性异常。

简介：AbstractObjective:The immune system is involved in the pathogenesis of schizophrenia; here, we aimed to explore the relationship of cytotoxic T lymphocyte antigen 4 (CTLA4) with schizophrenia.Methods:CTLA4 gene structure was first analyzed, and then rs231779, rs733618, rs231775 and rs3087243 were selected as tag single nucleotide polymorphisms for the linkage disequilibrium blocks in CTLA4 in the Chinese Han population to study expression quantitative trait loci of CTLA4 gene in normal brain tissue. Additionally, membrane CTLA4 (mCTLA4) and soluble CTLA4 (sCTLA4) mRNA expression levels were evaluated in peripheral blood mononuclear cells from 65 first-episode schizophrenia patients and 61 healthy controls. This study was approved by the Bioethics Committee of corresponding research institutes (approval No. 20150016) on March 6, 2015 and the principles of the Declaration of Helsinki.Results:After applying Bonferroni correction to the P values, only the minor C allele of rs733618 was significantly associated with increased expression of total CTLA4 (PBonf.= 0.019), but not mCTLA4 (PBonf. = 0.115), in the hippocampus. The sCTLA4 expression was significantly decreased in the peripheral blood mononuclear cells of schizophrenia patients compared with healthy controls, while mCTLA4 was not.Conclusion:These results suggest that the soluble form of CTLA4 may be associated with schizophrenia and that lower sCTLA4 expression may increase the risk of developing schizophrenia.

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简介：【摘要】目的 分析环磷酰胺结合人免疫球蛋白在系统性红斑狼疮治疗中的应用效果及其对血清单核细胞趋化蛋白-4（MCP-4）与白细胞介素-4（IL-4）的影响。方法 随机抽选本院接收的58例系统性红斑狼疮患者，选取时间为2018年1月-2019年12月接收，分组依据随机数字表法，对照组（29例）采取环磷酰胺结合强的松治疗，观察组（29例）接受人免疫球蛋白、环磷酰胺结合强的松治疗，比较临床治疗效果。结果 治疗总有效率方面，对照组是72.41%，观察组是93.10%，观察组更高，与对照组相比，差异显著（P0.05）；治疗后，观察组较对照组低，差异显著（P

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简介：摘要对2018年8月至2019年3月上海交通大学医学院附属同仁医院诊治的4例气管憩室导致慢性咳嗽患者的临床和病理资料进行分析，胸部高分辨HRCT检查显示，胸廓入口处气管旁右侧后壁的类圆形或不规则囊状或柱状气体影，连续横断薄层扫描或多平面重建等后处理技术发现气囊与气管之间无或有一较细的管道相连，气管镜检查均未见明显异常通道，术后病理报告示气管憩室。经颈部沿皮纹横弧形切口顺利切除气管憩室，术后慢性咳嗽症状消退，随访2～8个月，疗效满意。

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简介：AbstractIntroduction:Neuroblastoma (NB) is the most common extracranial solid tumor among children. The 5-year event-free survival rate for high-risk (HR) NB is still poor, especially for patients with advanced NB with MYCN gene amplification. Chimeric antigen receptor T (CAR-T) cell therapy is a new treatment for HR-NB.Case presentation:A 55-month-old boy with stage IV HR-NB received 4th-generation CAR-T cells that target disialoganglioside GD2, as consolidation maintenance treatment after intensive chemotherapy, surgery, and autologous stem-cell transplantation. As of February 2019, his CAR-T follow-up time was 37.5 months, indicating prolonged survival. Cranial MRI and ultrasound showed no mass; 123I-metaiodobenzylguanidine (123I-MIBG) scan was negative.Conclusion:GD2-CAR-T cells may be an effective treatment option for NB patients with MYCN amplification.

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