Dubin-Johnson综合征临床及遗传学特征（附3例报告）

目的　分析Dubin-Johnson综合征（DJS）临床特点及实验室检查并进行相关文献复习，以提高对该类遗传性疾病的认识，减少误诊。方法　2012年10月至2017年10月就诊于广州市妇女儿童医疗中心感染科3例临床疑诊DJS患儿，采用安捷伦外显子芯片捕获+高通量测序的方法对其及父母进行全基因医学外显子测序，分析总结其临床特点及实验室检查并进行相关文献复习。结果　3例患儿均为男性，婴儿期起病，一般情况良好，其中1例合并Bartter综合征，表现为反复低钾、无力；3例肝功能均提示总胆红素升高，直接胆红素升高为主，其余酶学指标均正常。基因学检测提示ABCC2上发现基因突变（共5处），均为未见报道的新发突变。结论　DJS临床表现轻微无特异性，仅表现为结合胆红素增高，由于缺乏血清学标记物，诊断较为困难。基因学检测可精确诊断，并可进行家系分析及验证，新发突变丰富了ABCC2基因突变谱。     

Chinese guidelines for the diagnosis and treatment of hand,foot and mouth disease (2018 edition)

Background

Hand, foot, and mouth disease (HFMD) is a common infectious disease in childhood caused by an enterovirus (EV), and which is principally seen in children under 5 years of age. To promote diagnostic awareness and effective treatments, to further standardize and strengthen the clinical management and to reduce the mortality of HFMD, the guidelines for diagnosis and treatment have been developed.

Methods

National Health Commission of China assembled an expert committee for a revision of the guidelines. The committee included 33 members who are specialized in diagnosis and treatment of HFMD.

Results

Early recognition of severe cases is utmost important in diagnosis and treatment of patients with HFMD. The key to diagnosis and treatment of severe cases lies in the timely and accurate recognition of stages 2 and 3 of HFMD, in order to stop progression to stage 4. Clinicians should particularly pay attention to those EV-A71 cases in children aged less than 3 years, and those with disease duration less than 3 days. The following indicators should alert the clinician of possible deterioration and impending critical disease: (1) persistent hyperthermia; (2) involvement of nervous system; (3) worsening respiratory rate and rhythm; (4) circulatory dysfunction; (5) elevated peripheral WBC count; (6) elevated blood glucose and (7) elevated blood lactic acid. For treatment, most mild cases can be treated as outpatients. Patients should be isolated to avoid cross-infection. Intense treatment modalities should be given for those severe cases.

Conclusion

The guidelines can provide systematic guidance on the diagnosis and management of HFMD.

     

染色体1q23.2区域存在与中国人群系统性红斑狼疮发病相关基因位点

目的：明确中国人群中Bcl-2基因多态是否与系统性红斑狼疮（SLE）相关,检测Bcl-2与IL－10易感等位基因是否存在协同作用。方法：通过荧光标记微卫星分型技术对232个SLE核心家系及106例正常对照进行Bcl-2微卫星的基因分型。结果：（1）两组对象Bcl-2等位基因和主要基因型分布频率差异有显著意义（P值分别为0．001和0．003）;（2）Bcl-2等位基因和主要基因型分布频率差异有显著意义（P值分别为0．001和0．003）;（2）Bcl-2等位基因存在传递不平衡,Bcl-2－195bp等位基因从父母优势传递给患病子代（传递：不传递＝122：82,P＝0．0051）;（3）同时携带Bcl-2－195bp和IL－10G138bp易感等位基因的个体较单独携带Bcl-2-195bp或IL－10G138bp的个体,患病的危险性增加（OR值分别为3．00,1．77和1．07。结论：Bcl-2基因多态与SLE发病相关,其可能直接参与SLE发病或附近某个易感位点存在连锁不平衡。Bcl-2与IL－10易感等位基因在决定SLE易感中存在协同作用。     

血液中微转移癌细胞对非小细胞肺癌预后的影响

目的 分析非小细胞肺癌(NSCLC)患者血液中微转移癌细胞对预后的影响。方法 手术过程中采集肺静脉血,术前或术后采集外周血,应用流式细胞仪进行癌细胞检测。于手术后定期随访患者,并与检测结果做统计学分析。结果 对58例NSCLC患者血样进行了检测,共发现20例存在癌细胞,阳性率为34．5％,其中57岁以下年龄组及Ⅲ／Ⅳ期患者的癌细胞阳性率显著高于57岁以上年龄组及Ⅰ／Ⅱ期患者(P值分别为0．000和0．006)。随访结果显示,血液中癌细胞检测阳性组的2年及3年生存率分别为30．0％和20．0％,癌细胞检测阴性组分别为52．6％和50．0％,二组间差异有显著性(P值分别为0．0291和0．0092)。结论肺癌患者在手术前后可从血液中检测到癌细胞,此类患者的预后差,生存期短。     

Huntingtin-interacting protein-1-related protein of rat (rHIP1R) is localized in the postsynaptic regions

We cloned a rHIP1R (GenBank Accession No., AB005052) encoding a Sla2/huntingtin-interacting protein (HIP1) family protein from a rat brain cDNA library. Localization of rHIP1R was investigated in the rat brain using an antibody specific to the HIP1R antibody. The rHIP1R protein was enriched in the synaptic plasma membrane fraction along with huntingtin, a synaptic protein and a causal protein for Huntington's disease. The electron microscopic examination revealed that HIP1R was localized at postsynaptic spines. Localization of HIP1R in the small vesicular structures in the spine, possible sites of vesicular transport of synaptic proteins, together with the structure-based analysis, suggested a role of HIP1R for vesicle trafficking through interaction with F-actin and working together with huntingtin and HIP1 at the synaptic sites.     

人间充质干细胞体外扩增及生物学特性的研究

目的探讨成人骨髓、胎儿骨髓和人脐血3种不同来源的人类间充质干细胞(MSC)体外扩增及其生物学特性.方法观察3种来源的MSC的生长、增殖和表面标志的表达,从而评价MSC的纯化、增殖能力及其免疫学特性.结果 (1)3种不同来源的人MSC的细胞形态、集落数、集落大小均无差异;但成人骨髓MSC在集落形成及集落交错融合时间上均早于胎儿骨髓和脐血MSC; (2) 3种来源的人MSC传代培养增殖速度无差异,但脐血和胎儿MSC融合后无接触抑制,而成人骨髓MSC存在接触抑制; (3) 来源于骨髓单个核细胞(MNC)8×106或脐血MSC 25×106的MSC,经体外扩增3代、5代和10代后,细胞数分别为107、108和1010个; (4)MSC易纯化,P2代细胞均一性为90%,P3代细胞均一性为95%,P5代细胞均一性达到99%;(5) 不同来源的MSC表面重要标志CD29、CD44、CD59、CD90、CD105、CD166表达均为阳性,其造血细胞表面标志CD11a、CD14、CD33、CD34、CD28、CD45、CD117表达均为阴性,与移植免疫排斥发生密切相关的表面标志HLA-DR、B7-1(CD80)、B7-2(CD86)、CD40和CD40L均为阴性.3种不同来源的人MSC表面标志,差异无显著性.(6) 两种不同培养体系对人MSC的纯化扩增及生物学特性无影响.结论 (1)不同来源的人MSC生物学特性无明显差异;(2) 人MSC在体外易扩增纯化,增殖能力强,符合临床组织工程的需要;(3) 人MSC不表达造血细胞及与移植免疫排斥发生密切相关的表面标志,有可能突破HLA屏障,广泛应用于临床.     

儿童自发性颅内出血49例分析

儿童自发性颅内出血是小儿神经系统严重疾病之一。1994～2000年,我院儿科收治自发性颅内出血患儿共49例,现就其病因、临床表现、影像学表现及预后分析如下。