高血压患者心脏变时性功能不良及其意义

目的:探讨原发性高血压(EH)患者心脏变时性功能不良(CI)及其意义。方法:随机选择EH患者60例,行活动平板运动试验,记录心率、血压变化,运动时间(time)、代谢当量(METs);计算2级运动的心率变时性反应指数(CRI2)、最大心率收缩压二项乘积(RPP)和心肌耗氧量(MV.O2)并与正常对照组40例比较。结果:EH组峰值心率及心率上升幅度小于对照组(148.75±11.81):(154.27±12.05)次/min,(67.44±13.37):(74.12±14.43)次/min,P<0.05;CRI2低于对照组(0.94±0.22):(1.03±0.15),P<0.05;EH组CI的人数共29例(48.33%)明显多于对照组7例(17.5%),P<0.005,其中CRI2<0.8的人数20例(33.33%),CRI2>1.3的人数9例(15%),对照组为6例(15%)、1例(2.5%),两组间有显著性差异P<0.05;表明EH组存在CI;EH组运动时间(time)缩短(8.78±1.87):(9.77±1.88)min,P<0.05;运动贮量(METs)降低(9.21±1.39):(9.82±1.48),P<0.05;而RPP,MV.O2分别高于对照组[(26484.64±3573.49):(24118.39±3060.76),(30.78±5.0):(27.47±4.23)ml/kg.min,P<0.001]。结论:EH患者存在CI,提示有心脏自主神经损害,临床应引起重视。     

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future.     

淫羊藿总黄酮调控Wnt/β-catenin信号通路对去卵巢大鼠抗骨质疏松作用研究

目的 通过淫羊藿总黄酮(TFE)对去卵巢大鼠骨组织Wnt/β-catenin信号通路及腰椎骨和股骨生物力学性能影响研究,探讨TFE对去卵巢大鼠抗骨质疏松的可能机制.方法 选用40只90天龄的SPF级SD雌性大白鼠,随机分为4组:对照组、去卵巢组(OVX)组、去卵巢+己烯雌酚(DES)组、去卵巢+淫羊藿总黄酮(TFE)组.实验持续12周后处死全部大鼠,取腰椎骨、股骨分别测量生物力学参数及骨密度.免疫蛋白印迹法检测各组大鼠胫骨骨皮质区p-GSK3-β(thr9)、RANKL、OPG、β-catenin蛋白表达水平.结果 与对照组比较,OVX组大鼠股骨、腰椎骨的生物力学性能及骨密度下降(P＜0.05);DES组、TFE组股骨和腰椎骨的生物力学性能和骨密度较去卵巢OVX组明显改善(P＜0.05);两治疗组的组间差异无统计学意义(P＞0.05).免疫蛋白印迹法提示去卵巢大鼠分别加用TFE、DES治疗后,胫骨蛋白β-catenin、OPG表达上调,p-GSK3-β(thr9)、RANKL表达下调.结论 淫羊藿总黄酮能够改善去卵巢大鼠的骨生物力学性能,上调Wnt/β-catenin信号通路,从而改善骨质疏松.     

Sebaceous carcinoma of the lip: Comparing normal lip and cheek anatomy with the imaging features of a rare cutaneous malignancy

Sebaceous carcinoma is a rare cutaneous malignancy, commonly affecting the eyelids. This case highlights a patient who presented with sebaceous carcinoma of the right upper lip with extensive involvement of the soft tissues of the head and neck. As part of the initial investigation, ultrasound was requested. This case demonstrates the ultrasound features of sebaceous carcinoma as well as revising the normal ultrasound anatomy of the upper lip and muscles of the cheek.     

介入封堵与外科手术治疗主动脉窦瘤破裂的疗效及安全性

目的比较介入封堵与外科手术治疗主动脉窦瘤破裂(RSVA)的疗效及安全性。方法选取RSVA患者22例,介入封堵治疗10例(介入组),外科手术治疗12例(手术组)。术后随访6—24个月,比较两组临床症状、是否存在残余分流、有无瓣膜反流、封堵器有无移位、肺动脉压变化及心功能状态。结果介入组均完全封堵;与术中比较,术后肺动脉收缩压、肺动脉平均压均降低,差异均有统计学意义(P均0.05);术后即刻造影示少量残余分流1例。手术组完全封堵率为91.67%(11/12);术后出现较大的残余分流和严重低心排量综合征各1例。两组随访期内均未发生右心衰竭、栓塞、感染性心内膜炎、主动脉瓣反流、溶血和死亡等。结论介入封堵治疗主动脉窦瘤破裂与外科修补疗效相当,且具有较好的安全性。     

前哨淋巴结活检判断口腔癌颈部淋巴结转移的系统评价

目的:系统评价前哨淋巴结活检(SLNB)预测口腔癌颈淋巴结转移的临床价值。方法:通过计算机检索CENTRAL、Medline、EMBASE、IFCC、中国生物医学文献数据库系统(CBM)、中国期刊全文数据库(CNKI)、中文科技期刊全文数据库(CQVIP)、万方数据库等,收集应用前哨淋巴结活检判断口腔癌颈淋巴转移的诊断试验,应用统计软件Meta-DiSc 1.4进行数据分析。结果:纳入分析的文献9篇,前哨淋巴结活检判断口腔癌颈淋巴转移的敏感度、特异度、阳性似然比(+LR)、阴性似然比(-LR)、诊断优势比(DOR)及系统接收操作特性曲线(SROC)下面积分别为84%(95%CI 73%～92%)、100%(95%CI97%～100%)、19.16(95%CI 7.65～47.77)、0.22(95%CI 0.10～0.51)、97.72(95%CI 29.69～321.61)和0.99。结论:前哨淋巴结活检可作为临床上判断口腔癌颈淋巴结转移有效可行的方法。