Phenotype delineation of ZNF462 related syndrome

Zinc finger protein 462 (ZNF462) is a relatively newly discovered vertebrate specific protein with known critical roles in embryonic development in animal models. Two case reports and a case series study have described the phenotype of 10 individuals with ZNF462 loss of function variants. Herein, we present 14 new individuals with loss of function variants to the previous studies to delineate the syndrome of loss of function in ZNF462. Collectively, these 24 individuals present with recurring phenotypes that define a multiple congenital anomaly syndrome. Most have some form of developmental delay (79%) and a minority has autism spectrum disorder (33%). Characteristic facial features include ptosis (83%), down slanting palpebral fissures (58%), exaggerated Cupid's bow/wide philtrum (54%), and arched eyebrows (50%). Metopic ridging or craniosynostosis was found in a third of study participants and feeding problems in half. Other phenotype characteristics include dysgenesis of the corpus callosum in 25% of individuals, hypotonia in half, and structural heart defects in 21%. Using facial analysis technology, a computer algorithm applying deep learning was able to accurately differentiate individuals with ZNF462 loss of function variants from individuals with Noonan syndrome and healthy controls. In summary, we describe a multiple congenital anomaly syndrome associated with haploinsufficiency of ZNF462 that has distinct clinical characteristics and facial features.     

表皮生长因子影响肿瘤患者舌苔变化的分子机制研究

目的 研究表皮生长因子（EGF）对食管癌细胞Eca-109细胞周期及表皮生长因子受体（EGF－R）表达的影响，探讨EGF促进肿瘤患者舌苔增厚的分子机制。方法 应用流式细胞术，检测EGF－R的表达和细胞周期。结果 EGF能明显促进Eca-109细胞膜上EGF－R的表达，使细胞增殖活性大大增强。结论EGF有是通过促进EGF－R的表达影响舌苔形成。     

磁场对红细胞变形性影响的研究

将兔血置于０．２～１．０Ｔ范围内不同强度的恒定磁场中照射后，用激光衍射法测量红细胞的变形指数ＤＩ及积分变形指数ＩＤＩ。实验结果表明，在０．２Ｔ磁场中照射３０分钟可使红细胞的ＤＩ及ＩＤＩ明显增加，即在这一条件下磁场可改善红细胞的变形性。而磁场强度增加或照射时间延长都不利于红细胞变形能力的改善。     

AC－cAMP－PKA途径对淋巴细胞DNA合成的调节作用

以ＣＤ３ＭｃＡｂ为激动剂，以淋巴细胞体外ＤＮＡ合成为研究手段，探讨了ＡＣ－ｃＡＭＰ－ＰＫＡ信号途径在ＣＤ３ＭｃＡｂ诱导的淋巴细胞活化中的意义。研究结果表明ＡＣ、ｃＡＭＰ和ＰＫＡ在决定细胞对外界刺激的反应中起着重要作用。在淋巴细胞活化早期细胞内ｃＡＭＰ出现一过性升高，随着细胞活化增殖，ｃＡＭＰ降至正常水平以下。活化ＡＣ、升高细胞内ｃＡＭＰ水平可显著降低ＣＤ３ＭｃＡｂ诱导的淋巴细胞ＤＮＡ合成，而ＰＫＩ却能在一定程度上促进淋巴细胞活化增殖。     

抗汉坦病毒单克隆抗体F（ab‘）2的制备及其纯度和活性鉴定

利用木瓜蛋白酶分别制备了抗汉坦病毒鼠源性单克隆抗体（ｍＡｂ）３Ｇ１和３Ｄ８Ｆ（ａｂ′）２片段。通过ＷａｔｅｒＤＥＡＥ４０ＨＲ阴离子交换色谱柱纯化后，非还原型ＳＤＳＰＡＧＥ呈现单一条带，相对分子质量（Ｍｒ）约１０００００。两种Ｆ（ａｂ′）２片段均具有良好的血凝抑制活性、病毒中和活性及对汉坦病毒感染乳鼠的保护作用     

解偶联蛋白3基因启动子区-55(C>T)多态与中国人静息能量消耗及体脂含量与分布的关系

目的研究解偶联蛋白3基因(UCP3)启动子区-55(C>T)多态与中国人静息能量消耗、体脂参数的关系。方法在300名中国人(正常体重91人,超重/肥胖209人)中,用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restrictionfragment length polymorphisms ,PCR-RFLP)检测UCP3基因启动子区-55(C>T)变异,并测定其静息能量消耗、体脂含量及分布。结果UCP3基因启动子区-55(C>T)多态基因型频率与肥胖及肥胖类型均无相关。正常体重组TT基因型者静息能量消耗水平显著高于CT及CC基因型者(P<0·05) ;超重/肥胖组各基因型者间比较亦有同样趋势。在超重/肥胖组,TT基因型者FM/FFM值与CT及CC基因型者差异有显著意义(P<0·01)。结论UCP3基因启动子区-55(C>T)多态与中国人静息能量消耗相关,该变异可能通过对静息能量消耗的影响调节机体的能量代谢。     

抗人CD20单克隆抗体诱导Daudi细胞凋亡的功能研究

目的　观察由基因重组抗原制备的抗人CD2 0单克隆抗体 (CD2 0 McAb) 1- 2 8对B淋巴瘤细胞的促凋亡作用 ,并探讨其作用机理。方法　利用流式细胞术测定所获 1- 2 8单抗对标准CD2 0 FITC单抗的竞争抑制作用及对胞内游离钙的影响 ;通过电镜观察其诱导Daudi细胞凋亡后形态上的改变 ,免疫印迹实验显示Daudi细胞凋亡后功能上的变化。结果　 1- 2 8能明显竞争标准CD2 0 FITC单抗与Daudi细胞表面CD2 0分子的结合。电镜结果证实了 1- 2 8能够促进Daudi细胞发生凋亡的结论 ;实验结果显示Daudi细胞与 1- 2 8作用后胞内游离钙浓度明显升高 (P <0 .0 5 ) ,细胞内Bcl 2蛋白和caspase酶原的表达量下降 ,而Bax蛋白和caspase酶原降解的活性产物表达增加。结论　 1- 2 8能竞争结合Daudi细胞表面的CD2 0分子并诱导其发生凋亡     

表达鼠精子Cyritestin蛋白的减毒沙门氏菌疫苗株的构建及其鉴定

目的 构建表达鼠精子eyritestin蛋白的可口服减毒沙让氏菌活疫苗株。方法 应用质粒TAZ83／13，将之进行双酶切获得含有成熟cyritestin蛋白cDNA序列的酶切片段。将其插入表达载体yA3149中，构建重组质粒pCFL。将该重组质粒转入鼠沙门氏伤寒杆菌疫苗株X4632和X4550中，以获得重组菌株X4632（pCFL)和X4550（pCFL)。结果 该两种无抗药性的重组菌株在体外营养选择压力下，可较稳定地携带重组质粒传代繁殖。X4550(pCFL)在体内可较稳定地害居于Peyer‘s结，肠系膜淋巴结和脾脏；X4632（pCFL)可较稳定地定居于Peyer‘s结。二者均可表达被抗cyritestin单抗（mAb)识别的重组cyritestin蛋白。口服该疫苗菌株无明显的毒性作用。结论 X4632（pCFL),X4550（pCFL)疫苗株的构建，为研究以cyritestin为靶抗原的精子抗原避孕疫苗打下了基础。     

Bacteremia due to Moraxella atlantae in a cancer patient

A gram-negative alkaline phosphatase- and pyrrolidone peptidase-positive rod-shaped bacterium (CCUG 45702) was isolated from two aerobic blood cultures from a female cancer patient. No identification could be reached using phenotypic techniques. Amplification of the tRNA intergenic spacers revealed fragments with lengths of 116, 133, and 270 bp, but no such pattern was present in our reference library. Sequencing of the 16S rRNA gene revealed its identity as Moraxella atlantae, a species isolated only rarely and published only once as causing infection. In retrospect, the phenotypic characteristics fit the identification as M. atlantae (formerly known as CDC group M-3). Comparative 16S rRNA sequence analysis indicates that M. atlantae, M. lincolnii, and M. osloensis might constitute three separate genera within the MORAXELLACEAE: After treatment with amoxicillin-clavulanic acid for 2 days, fever subsided and the patient was dismissed.