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简介：AbstractImportance:Effective screening strategies for early-onset neonatal sepsis (EONS) have the potential to reduce high volume parenteral antibiotics (PAb) usage in neonates.Objective:To compare management decisions for EONS, between CG149 National Institute for Health and Care Excellence (NICE) guidelines and those projected through the virtual application of the Kaiser Permanente sepsis risk calculator (SRC) in a level 2 neonatal unit at a district general hospital (DGH).Methods:Hospital records were reviewed for maternal and neonatal risk factors for EONS, neonatal clinical examination findings, and microbial culture results for all neonates born at ≥34 weeks’ gestation between February and July 2019, who were (1) managed according to CG149-NICE guidelines or (2) received PAb within 72 h following birth at a DGH in Winchester, UK. SRC projections were obtained using its virtual risk estimator.Results:Sixty infants received PAb within the first 72 h of birth during the study period. Of these, 19 (31.7%) met SRC criteria for antibiotics; 20 (33.3%) met the criteria for enhanced observations and none had culture-proven sepsis. Based on SRC projections, neonates with '≥1 NICE clinical indicator and ≥1 risk factor’ were most likely to have a sepsis risk score (SRS) >3. Birth below 37 weeks’ gestation (risk ratio [RR] = 2.31, 95% confidence interval [CI]: 1.02–5.22) and prolonged rupture of membranes (RR = 3.14, 95% CI: 1.16–8.48) increased the risk of an SRS >3.Interpretation:Screening for EONS on the SRC could potentially reduce PAb usage by 68% in term and near-term neonates in level 2 neonatal units.

简介：AbstractIn its new roadmap for neglected tropical diseases, the World Health Organization proposes three important strategic shifts: (i) Stronger accountability which shifting from process to impact indicators; (ii) Intensified cross-cutting approaches; and (iii) Stronger country ownership. In this paper we discuss the implementation of these three strategies in the setting of a high onchocerciasis disease burden in South Sudan.

简介：AbstractBackground:Nasal insertion is the preferred method for non-intubated patients in flexible bronchoscopy; however, the relatively narrow nasal cavity results in difficulties related to bronchoscope insertion. This study aimed to investigate whether pre-operative nasal probe tests could reduce the time to pass the glottis, improve the first-pass success rate and patients’ tolerance, and reduce postoperative bleeding.Methods:This three-arm prospective randomized controlled trial was conducted in a tertiary hospital between May and October 2020. Three hundred patients requiring diagnosis and treatment using flexible bronchoscopy were randomly allocated to three groups: control group, simple cotton bud detection group (CD group), and adrenaline + lidocaine detection group (AD group). The primary outcome was the time to pass the glottis. Secondary outcomes included the first-pass success rate, the patients’ tolerance scores, and post-operative bleeding. One-way analysis of variance, Kruskal-Wallis H test, Chi-squared test, Fisher’s exact test, and Bonferroni’s multiple comparison tests were used in this study.Results:In total, 189 men and 111 women were enrolled in this study, with a mean age of 55.72 ± 12.86 years. The insertion time was significantly shorter in the AD group than in the control group (18.00 s [12.00–26.50 s] vs. 24.00 s [14.50–45.50 s], P = 0.005). Both the AD (99% vs. 83%, χ2 = 15.62, P < 0.001) and CD groups (94% vs. 83%, χ2 = 5.94, P = 0.015) had a significantly higher first-pass success rate than the control group. Compared with the control group, post-operative bleeding (1% vs. 13%, χ2 = 11.06, P < 0.001) was significantly lower in the AD group. However, no significant difference was found in the patients’ tolerance scores.Conclusions:Pre-operative nasal cavity probe tests especially with adrenaline and lidocaine during flexible bronchoscopy can significantly reduce the time to pass the glottis, improve the first-pass success rate, and reduce post-operative nasal bleeding. Pre-operative nasal probe tests are recommended as a time-saving procedure for patients undergoing flexible bronchoscopy.Trial registration:Chinese Clinical Trial Registry (ChiCTR), ChiCTR2000032668; http://www.chictr.org.cn/showprojen.aspx?proj=53321.

简介：摘要目的探讨MAP2K1基因变异所致的心-面-皮肤综合征(cardio-facio-cutaneous syndrome，CFCS)基因型与表型的对应关系。方法收集先证者及其父母的外周血样，提取DNA，采用全外显子组测序对先证者进行检测，用Sanger测序对先证者及父母进行验证。结果先证者为1岁8个月的男性，临床表现为身材矮小、精神运动发育迟缓、大头畸形、特殊面容、先天性心脏病等多发异常。全外显子组测序发现其携带MAP2K1基因c.389A>G(p.Tyr130Cys)杂合错义变异，Sanger测序证实其为新发变异。根据ACMG/AMP指南，判定为致病性变异。结论本例患儿存在明显的行为异常、食欲佳、三尖瓣返流，有别于既往报道的病例，因此丰富了MAP2K1基因变异所导致的CFCS的临床表型谱。

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简介：摘要目的探讨孕11～13＋6周血清中妊娠相关血浆蛋白A(PAPP－A)、胎盘生长因子(PIGF)水平联合子宫动脉搏动指数(PI)、平均动脉压(MAP)预测子痫前期的价值。方法抽取郑州大学第二附属医院2018年3月至2019年5月42例子痫前期孕妇作为研究组，134例正常孕妇作为对照组，测定孕11 ～ 13＋6周孕妇血清PAPP－A、PIGF水平及PI、MAP值，计算MOM值，应用受试者工作曲线(ROC曲线)评价各指标单独预测及联合预测子痫前期的价值。结果子痫前期组PAPP－A、PIGF水平均低于对照组(P<0.001)，PI、MAP值高于对照组(P<0.001)。PAPP－A、PIGF、PI、MAP单独预测及联合预测子痫前期的ROC曲线下面积分别为0.738、0.756、0.743、0.757、0.894，四项指标联合预测子痫前期的敏感度、特异度分别为85.7%、88.1%，其敏感度与特异度均明显高于任一单项指标的敏感度与特异度。结论孕11～13＋6周孕妇血清PAPP－A、PIGF水平及PI、MAP对子痫前期均有预测价值，且四项指标联合预测的价值明显优于任一单项指标。

简介：摘要目的探讨平均表观传播扩散MRI（mean apparent propagator-MRI, MAP-MRI）与动态对比增强MRI（dynamic contrast enhanced-MRI, DCE-MRI）在鉴别胶质母细胞瘤（glioblastoma, GBM）与脑转移瘤（brain metastases, BMs）中的临床应用价值。材料与方法对经手术病理确诊的GBM[异柠檬酸脱氢酶野生型（isocitrate dehydrogenase-wildtype, IDH-wt）]患者27例及经手术病理确诊或临床随访证实的BMs患者24例行常规MRI序列及扩散频谱成像（diffusion spectrum imaging, DSI）与DCE-MRI检查，DSI经解析得到MAP-MRI的各参数图，DCE-MRI经西门子工作站处理后得到多个参数图。在各参数图上分别测量两组患者肿瘤实质区、瘤周水肿区及对侧正常脑组织区的参数值。为了最小化个体差异，将各参数值除以对侧正常脑组织的值，得到各参数的相对值。采用卡方检验对两组患者的性别进行组间比较；采用两独立样本t检验及Mann-Whitney U检验对两组患者的年龄、MAP-MRI及DCE-MRI各参数值及其相对值进行组间比较，P＜0.05为差异有统计学意义，并绘制受试者工作特征（receiver operating characteristic, ROC）曲线，采用DeLong检验以评估各参数值鉴别诊断的效能。结果GBM（IDH-wt）组与BMs组患者的年龄、性别差异均无统计学意义（P=0.327和P=0.247）。GBM（IDH-wt）组患者肿瘤实质区的非高斯轴向（non-Gaussianity axial, NGAx）、非高斯垂直（non-Gaussianity vertical, NGRad）、返回轴概率（return to the axis probability, RTAP）、返回平面概率（return to the plane probability, RTPP）均高于BMs组，均方位移（mean square displacement, MSD）低于BMs组，且差异有统计学意义（P＜0.05）。GBM（IDH-wt）组患者瘤周水肿区的相对转运常数（relative volume transfer constant, rKtrans）高于BMs，而相对渗出速率常数（relative the rate constant, rKep）低于BMs组，且差异有统计学意义（P＜0.05）。肿瘤实质区RTPP与NGAx是鉴别GBM（IDH-wt）与BMs时曲线下面积（area under the curve, AUC）较高的单一参数，AUC分别为0.985、0.937，敏感度分别为0.963、0.926，特异度分别为0.917、0.833。结论MAP-MRI与DCE-MRI在鉴别GBM（IDH-wt）与BMs时表现出了较好的诊断价值，且肿瘤实质区的RTPP与NGAx可作为较好的影像学标记。

简介：摘要目的探讨一例由MAP2K1基因变异引起的心-面-皮肤综合征(cardio-facio-cutaneous syndrome, CFCS)患儿基因型与表型的对应关系。方法收集疑似CFCS患儿及其父母的外周血样，提取基因组DNA，对患儿及父母采用全外显子组测序，最后用Sanger测序对可疑变异位点进行验证。结果患儿为男性，具有典型的CFCS面容以及发育迟滞。经全外显子组检测分析发现患儿的MAP2K1基因第3外显子上存在1个新发的杂合错义变异c.389A>G(p.Tyr130Cys)，Sanger测序验证了该结果，根据最新美国医学遗传学与基因组学学会评级指南判定为疑似致病性变异。结论患儿临床未发现心脏结构、功能的异常以及癫痫发作，但具有典型面容及皮肤异常，伴有生长发育迟缓、智能障碍、泌尿系统结构异常。该病例丰富了MAP2K1基因变异导致的CFCS表型谱。

简介：摘要本文报道了1例罕见的额骨干骺端发育不良2型成年男性患者，其临床表现为眶上嵴突出、宽鼻梁、小下颌，同时合并多发颞骨骨瘤、手足畸形、脊柱侧弯、感音神经性聋，基因学检测发现MAP3K7基因的杂合错义变异c.1454C>T/p.P485L。对该患者进行了人工耳蜗植入、颞骨骨瘤切除及外耳道重建术，患者生活质量得到了明显提升，术后听觉行为分级标准（categories of auditory performance，CAP）达5级，即不借助唇读可理解常用短语。

简介：摘要目的探讨急性胰腺炎(Acute pancreatitis, AP)患者早期血清中载脂蛋白B/载脂蛋白A1( apolipoprotein B/apolipoprotein A1, Apo B/A1)、微管相关蛋白1-轻链3(microtubule-associated protein 1-light chain 3, MAP1-LC3)及细胞间黏附分子-1(intercellular adhesion molecule-1, ICAM-1)水平对AP患者病情的早期评估价值。方法收集2019年1月至2020年8月安徽医科大学第二附属医院急诊外科诊治的AP患者资料。同时还收集了入院24 h内的AP患者血清。根据患者病情严重程度分为非重症AP(non-severe acute pancreatitis, Non-SAP)组(n=315例)和重症AP(severe acute pancreatitis, SAP)组(n=98例)，并收集60例体检健康者作为非特异性对照(non-specific control, NC)组。利用单因素方差分析比较3组间Apo B/A1、MAP1-LC3和ICAM-1水平的差异,并利用Pearson相关性分析分析其与AP病情严重程度的相关性。采用受试者工作曲线(receiver operating characteristic curve, ROC)来预测上述指标在评估病情严重程度中的灵敏度与特异度。结果AP组患者早期Apo B/A1、MAP1-LC3和ICAM-1水平均显著高于NC组(P<0.05)，SAP组Apo B/A1、MAP1-LC3和ICAM-1水平分别为(2.21±1.40)、(0.92±0.29) ng/mL和(235.57±54.50) ng/mL高于Non-SAP组的(0.96±0.34)、(0.48±0.24) ng/mL和(120.28±61.69) ng/mL，差异有统计学意义(P<0.05)。Pearson相关性分析显示以上指标与入院后首次Ranson评分呈正相关(P<0.05)，其中ICAM-1与AP病情严重程度相关性最高(r=0.519)。ROC示Apo B/A1、MAP1-LC3、ICAM-1及联合检测的受试者工作特征曲线下面积(area under the receiver operating characteristic curve, AUROC)分别为0.769、0.811、0.828和0.938。结论AP患者入院24 h内血清Apo B/A1、MAP1-LC3和ICAM-1水平与AP病情严重程度明显相关，对早期预测AP的病情严重程度有一定的临床意义。

简介：摘要目的探讨输出蛋白(XPO)4、丝裂原活化蛋白激酶(MAP2K)4及小脑锌指结构蛋白(ZIC)1在子宫内膜癌(EC)组织中的表达及其对EC患者的预后评估价值。方法选择2017年6月至2018年6月，无锡市妇幼保健院、复旦大学附属中山医院青浦分院收治的147例EC患者为研究对象。采用免疫组化染色法检测患者EC组织及癌旁正常组织XPO4、MAP2K4、ZIC1表达水平。采用χ2检验，对患者EC组织及癌旁正常组织XPO4、MAP2K4、ZIC1阳性率，以及不同临床病理特征患者EC组织XPO4、MAP2K4、ZIC1阳性率进行比较。采用Two-stage检验，对EC组织XPO4、MAP2K4、ZIC1呈阳性与呈阴性患者的3年总体生存(OS)率进行比较。本研究遵循的程序经过无锡市妇幼保健院、复旦大学附属中山医院青浦分院伦理委员会批准(审批文号：20160803、20160502)。结果①本组患者EC组织XPO4、MAP2K4阳性率分别为34.7%(51/147)、38.1%(56/147)，显著低于癌旁正常组织的66.7%(98/147)与72.8%(107/147)，并且差异均有统计学意义(χ2＝30.060、35.812，P<0.001)。本组患者EC组织ZIC1阳性率为72.1%(106/147)，显著高于癌旁正常组织的40.1%(59/147)，并且差异亦有统计学意义(χ2＝30.512、P<0.001)。②不同年龄、EC直径及绝经与否患者的EC组织XPO4、MAP2K4、ZIC1阳性率比较，差异均无统计学意义(P>0.05)。不同国际妇产科联盟(FIGO)临床分期、组织病理学分级、子宫肌层侵犯程度及淋巴结转移与否患者EC组织XPO4、MAP2K4、ZIC1阳性率分别比较，差异均有统计学意义(P<0.05)。③本组EC组织XPO4、MAP2K4呈阴性患者的3年OS率分别为42.7%、38.5%，均显著低于XPO4、MAP2K4呈阳性者的68.6%、71.4%，并且差异均有统计学意义(χ2＝8.960、P＝0.003，χ2＝15.077、P<0.001)。EC组织ZIC1呈阳性患者3年OS率为35.8%，显著低于ZIC1呈阴性者的68.3%，并且差异亦有统计学意义(χ2＝12.579、P<0.001)。结论在EC组织中，XPO4、MAP2K4呈低表达，而ZIC1则呈高表达。XPO4、MAP2K4、ZIC1表达水平与患者组织病理学分级、淋巴结转移、FIGO临床分期、子宫肌层侵犯及3年OS率显著相关，其在评估EC患者发病、进展及预后中具有一定价值。