Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms

Impaired expression of the FMR1 gene is responsible for the fragile X mental retardation syndrome. The FMR1 gene encodes a cytoplasmic protein with RNA-binding properties. Its complex alternative splicing leads to several isoforms, whose abundance and specific functions in the cell are not known. We have cloned in expression vectors, cDNAs corresponding to several isoforms. Western blot comparison of the pattern of endogenous FMR1 proteins with these transfected isoforms allowed the tentative identification of the major endogenous isoform as ISO 7 and of a minor band as an isoform lacking exon 14 sequences (ISO 6 or ISO 12), while some other isoforms (ISO 4, ISO 5) were not expressed at detectable levels. Surprisingly, in immunofluorescence studies, the transfected splice variants that exclude exon 14 sequences (and have alternate C-terminal regions) were shown to be nuclear. Such differential localisation was however not seen in subcellular fractionation studies. Analysis of various deletion mutants suggests the presence of a cytoplasmic retention domain encoded in exon 14 and of a nuclear association domain encoded within the first eight exons that appear however to lack a typical nuclear localisation signal.      

肿瘤PICC化疗患者无针输液接头留置时间的临床研究

 目的 探讨经外周静脉置入中心静脉导管（PICC）无针输液接头留置时间。方法 选取2019年4—10月在某三甲医院进行PICC维护的肿瘤化学治疗患者,根据使用PICC无针输液接头的种类将患者分为A、B两组,A组使用不透明金属弹簧机械阀无针输液接头（A输液接头）,B组使用透明硅胶机械阀无针输液接头（B输液接头）,收集患者更换的无针输液接头进行细菌定性及定量培养,比较两组患者PICC留置4~、8~、15~、>21 d时输液接头培养阳性率。结果 共纳入174例患者,11例患者PICC无针输液接头定量细菌培养阳性,阳性率为6.32%,其中A组阳性率为8.70%（8/92）,B组阳性率为3.66%（3/82）。不同留置时间无针输液接头定量培养阳性率比较,A组差异有统计学意义（P<0.05）,B组差异无统计学意义（P>0.05）;不同留置时间输液接头定性培养阳性率比较,A、B两组差异均无统计学意义（P>0.05）。相同留置时间A、B两组输液接头定量、定性培养阳性率比较,差异均无统计学意义（均P>0.05）。A组输液接头留置8~14 d、B组留置15~21 d时,其培养阳性率为0。共分离出5种11株细菌,其中最常见的细菌种类蜡样芽孢杆菌（4株）。结论 A输液接头不同留置时间定量细菌培养存在差异,A、B两种输液接头留置相同时间其细菌培养阳性率未见差异。     

聊城市5起新型冠状病毒肺炎聚集性疫情流行病学分析

目的 分析新型冠状病毒肺炎(简称新冠肺炎)聚集性疫情的流行病学特征,为制定疫情防控策略和措施提供科学依据。 方法 于2020年1月24日—2月11日在聊城市应用现场流行病学方法调查5起新冠肺炎聚集性疫情所涉及的41例确诊病例及无症状感染者, 对相关标本采用实时荧光定量RT-PCR方法进行核酸检测。 结果 5起聚集性疫情的首发病例续发率为2.78%~50.00%,差异有统计学意义(χ²=21.57,P<0.01);家庭聚集性疫情涉及32例、10户家庭(族),公共场所聚集性疫情涉及16例、2个场所。一、二、三代病例分别有5、22、12例,传染率分别为100.00%、18.18%、0.00%。4例病例的潜伏期为5~10 d,中位数为7.5 d;聚集性疫情中存在潜伏期传播。有疫区旅行史或居住史者4例(9.76%),与潜伏期病例或确诊病例有密切接触、频繁交谈等有30例(73.17%),暴露于高浓度气溶胶4例(9.76%),未知感染来源3例(7.32%)。 结论 新冠病毒极易引起聚集性疫情,控制本地的聚集性疫情是防控工作的重点;新冠病毒可以通过高浓度气溶胶传播;病例在潜伏期具有感染性。     

家庭生态系统视角下长子女情绪和行为问题研究

目的 研究二孩家庭中长子女情绪和行为问题现状,并在家庭生态系统内分析其影响因素。方法 于2020年4-7月在河南省商丘市选取538名长子女为研究对象,采用长处和困难问卷、儿童版父母教养方式问卷以及家庭亲密度和适应性量表进行调查。 结果 长子女情绪和行为困难总分异常检出率为15.1%(81/538),多因素Logistic回归分析显示,8~13岁的年龄差(OR=2.406,95% CI:1.159～4.995),竞争的同胞关系(OR=4.773,95% CI:1.933～11.785),父/母亲过度保护(OR=2.821,95% CI:1.076～7.392)/(OR=4.113,95% CI:1.903～8.890)、父亲拒绝(OR=3.215,95% CI:1.324～7.807)的教养方式,以及规律型家庭(OR=4.055,95% CI:1.312～12.533)中长子女情绪行为异常风险显著升高;而相较于抑郁质,其他气质类型长子女情绪行为异常风险显著降低(OR=0.227、0.228、0.230,95% CI:0.073～0.707、0.069～0.754、0.071～0.744),相较于低收入家庭(月收入＜2 000元),其他高收入家庭长子女情绪行为异常风险显著降低(OR=0.272、0.334、0.133、0.228;95% CI:0.095～0.778、0.119～0.939、0.035～0.501,0.056～0.924)。结论 二孩家庭中长子女情绪行为问题高于同期儿童青少年水平,需关注二孩家庭中的长子女,根据不同特征的个体进行针对性的干预。     

应用MALDI-TOF MS快速鉴定blaKPC-2基因型肺炎克雷伯菌

 目的 探讨基质辅助激光解析/电离飞行时间质谱(MALDI-TOF MS)对携带bla_KPC-2基因型肺炎克雷伯菌的快速鉴定能力。方法 收集2018年9月-2020年11月蚌埠医学院第一附属医院临床住院患者分离的肺炎克雷伯菌,采用纸片扩散法进行药敏试验。应用聚合酶链反应(PCR)方法筛选携带bla_KPC-2基因型肺炎克雷伯菌。MALDI-TOF MS鉴定菌株并收集携带bla_KPC-2基因型和碳青霉烯类敏感肺炎克雷伯菌(CSKP)的质谱图,各自选取其中70株菌株图谱,建立携带bla_KPC-2基因型和CSKP的超级图库(Super-Spectra)。采用超级图库鉴定除建库以外的肺炎克雷伯菌,根据耐药表型和PCR结果,判断鉴定结果是否准确。结果 共收集295株肺炎克雷伯菌,经耐药表型筛选耐碳青霉烯类肺炎克雷伯菌(CRKP)143株和CSKP 152株。CRKP中鉴定出140株携带碳青霉烯酶基因(134株检出bla_KPC-2基因,3株检出bla_KPC-18基因,2株检出bla_NDM-1基因,1株检出bla_IMP基因),3株不携带碳青霉烯酶基因;其中2株同时检出bla_KPC-2基因和bla_NDM-1基因。根据建库要求,建立携带bla_KPC-2基因型和CSKP的超级图库(Super-Spectra);设置error值<0.5,二者重合率达80%;对比图发现,4 154.4、8 310.7、10 880.8、3 579、10 079.3 m/z五个峰可作为区分携带bla_KPC-2基因肺炎克雷伯菌和CSKP的特征峰。选取除建库以外的155株肺炎克雷伯菌进行验证,准确率为92.90%(144/155);其中携带bla_KPC-2基因肺炎克雷伯菌准确率为94.52%(69/73),CSKP准确率为91.46%(75/82)。结论 通过MALDI-TOF MS建立Super-Spectra,可快速预测bla_KPC-2基因型肺炎克雷伯菌,为临床CRKP感染的诊疗及医院感染防控提供可靠的实验室依据。     

MDM2、p53在增生、癌变子宫内膜的表达及其意义

应用原位杂交方法,以地高辛标记的cDNA探针检测6例正常子宫内膜、14例增生性子宫内膜和30例子宫内膜腺癌组织石蜡包埋标本中MDM2基因mRNA的表达,运用免疫组化SABC法检测MDM2和p53基因的蛋白表达。结果表明p53基因在正常、增生性及癌变子宫内膜组织中表达率依次增高,在子宫内膜腺癌组织中其表达水平与临床分期和病理分级相关（P<0.05）。MDM2基因在增生性内膜中较癌变内膜表达率高,但无统计学意义（P>0.05）。MDM2基因的mRNA与蛋白表达具很好的相关性（P<0.01）。认为p53与子宫内膜癌的形成相关。MDM2可能与子宫内膜组织异常增殖有关。在子宫内膜增生及癌变组织中可能存在p53对MDM2在转录水平的调控。     

三维测量技术在骨性Ⅲ类错颌双颌术后复发研究中的应用

目的探讨三维测量方法应用于骨性Ⅲ类错颌畸形患者正颌术后颌骨稳定性研究的可行性,分析术后颌骨的复发情况及其影响因素。方法以2019年7至12月于南京大学医学院附属口腔医院口腔颌面外科行双颌手术的骨性Ⅲ类错颌畸形患者为研究对象,患者均行上颌Le Fort Ⅰ型截骨术+双侧下颌矢状劈开术。收集患者术前1周(T0)、术后3 d(T1)、术后6~12个月(T2)螺旋CT数据,使用3D Slicer建模并导入Geomagic Qualify拟合配准、测量上、下颌骨各标志点三维移动距离。对T1、T2期各标志点坐标值行配对t检验或Wilcoxon符号秩和检验,并对有明显复发的标志点之间行Pearson相关性分析,P < 0.05为差异有统计学意义。结果共纳入15例患者,其中男5例,女10例,年龄18~25岁,平均21.3岁。T1与T2期各标志点水平向坐标值比较,仅在右下颌角点差异有统计学意义,T1期为(-50.47±4.44) mm,T2期为(-50.06±4.66) mm(t=2.948,P=0.011)。T1与T2期各标志点前后向坐标值比较,上颌骨上牙槽座点、左、右梨状孔点、左、右骨折线中点差异有统计学意义(P<0.05),复发率分别为37.7 %(1.36/3.61)、35.7%(1.15/3.22)、25.4%(0.84/3.31)、26.9%(0.84/3.12)、14.0%(0.41/2.92);下颌骨下牙槽座点、颏前点、颏顶点、颏下点、左、右下颌角点差异有统计学意义(P<0.01),复发率分别为36.9%(1.75/4.74)、53.9%(2.45/4.55)、55.5%(2.72/4.90)、61.7%(2.90/4.70)、85.3%(2.20/2.58)、93.4%(2.40/2.57);复发距离与移动距离均显著相关(r值为0.572~0.736,P < 0.05)。T1、T2期垂直向各标志点坐标值比较,上颌骨垂直向差异无统计学意义(P>0.05);下颌骨下牙槽座点、颏前点、颏顶点、颏下点差异有统计学意义(P<0.01),T2期较T1期发生明显的逆时针旋转。结论三维测量方法可准确反映骨性Ⅲ类错颌畸形患者双颌术后颌骨的三维变化,术后上、下颌骨在水平向均无明显复发,在前后向均存在复发,与手术距离显著相关,在垂直向仅下颌骨存在旋转移位。     

How do the Growth and Metabolic Activity of Aquatic fungi Geotrichum Candidum and Aspergillus Niger Respond to Nanoplastics?

In this study, exposure experiments were conducted to assess the effects of polystyrene nanoparticles (PS) and amine-modified polystyrene nanoparticles (APS) at environmental concentrations (1, 10, and 100 µg L^??1) on two fungal species (Geotrichum candidum and Aspergillus niger), isolated from leaf litter in streams, concerning their growth and metabolic activity. Results showed that PS at 1 and 10 µg L^??1 have hormesis effects on G. candidum growth. Compared with G. candidum, A. niger had higher sensitivity to nanoplastic exposure. Besides, the peroxidase and cellobiohydrolase activities of A. niger were significantly inhibited by nanoplastics (except 1 µg L^??1 PS), which would weaken its metabolic activity in carbon cycling. These results provided a new thought on how the growth and functions of aquatic fungi cope with the stress induced by nanoplastics. Overall, the study provided evidence for the different responses of aquatic fungi to nanoplastics in streams.

     

Comfortable suture angle with optimized trocar position aids renorrhaphy during retroperitoneal laparoscopic partial nephrectomy

BackgroundThis study investigated a comfortable suture angle (CSA) with optimized trocar position for closing the defect during renorrhaphy in retroperitoneal laparoscopic partial nephrectomy (LPN). The feasibility, usefulness, and safety of achieving the CSA with modified trocar position were determined for different tumor types.MethodsTwo optimized trocar positions were introduced for different tumor types. A suture angle was based on the tumor plane of the superficial parenchyma defect and the line formed by the needle holder. Preliminary surgical simulations determined a CSA that combined the least suture time with the greatest ease of performance. Achieving the CSA was attempted during renorrhaphy of 106 enrolled patients undergoing retroperitoneal LPN. Patients’ characteristics, operative features, and follow-up information were collected and analyzed.ResultsFor 89 (83.96%) patients, a CSA was successfully reached and parenchyma recovered. The remaining 17 patients were successfully sutured, but the attempt to achieve a CSA failed. For the CSA group, the suture, clamping, and overall operative times were significantly less than that of the non-CSA patients. The groups were similar regarding estimated blood loss, positive surgical margin, and rates of glomerular filtration reduction and complications. Univariable analyses determined that tumor location, growth pattern, and R.E.N.A.L. nephrometry score (RNS) may influence the success of this approach. Multivariable analyses indicated that only tumor location and RNS were independent factors affecting successful achievement of the CSA.ConclusionsThrough different kidney position changes, the CSA could be used to ease the suture process. It is feasible and safe to perform a CSA with optimized trocar position during LPN. Tumor location and RNS may influence the approach to get a CSA.     

2016—2020年河南省餐饮单位食源性疾病暴发事件流行病学特征分析

目的 分析河南省餐饮单位食源性疾病暴发的流行病学特征,提出相关监管建议。方法 收集2016—2020年河南省餐饮类食源性疾病暴发监测数据,采用SPSS 19.0软件对数据进行流行病学分析。结果 河南省2016—2020年共报告发生在餐饮单位的食源性疾病暴发事件224起,占同时期全省食源性疾病暴发事件总数的57.44%,发病2577人,占发病总人数的73.37%,死亡1人,占死亡总人数的14.29%。餐饮类暴发事件场所主要集中在宾馆饭店,事件报告数100起,占总事件数的44.64%。在查明原因的事件中,致病菌是引发食源性疾病暴发事件的主要因素,占总事件数的19.64%;加工储存不当引起的事件数量最多,占总事件数的27.33%。结论 建议加强对餐饮单位重点环节和危险因素的监管,建立健全餐饮单位食品安全知识培训制度,加强食品安全监管多部门沟通合作机制。