目的 总结一个以心脏损害为首发症状的假肥大肌营养不良症家系的遗传学及临床特征。方法 对先证者和家系成员进行临床观察、并收集其血清酶、胸片、心电图、 心脏彩色超声、肌肉组织活检及抗肌萎缩蛋白基因突变检测等结果。结果 先证者及家系成员患者符合假肥大肌营养不良症诊断,但以心脏扩大为首发症状,表现为心肌酶谱异常,心电图异常,心彩超提示扩张型心肌病,同时骨骼肌受累不明显,基因检测提示先证者及家系成员患者携带抗肌萎缩蛋白基因外显子40的无义突变[c.5632C>T, p(Gln1878^*)]。结论 该家系成员患者符合X连锁扩张型心肌病诊断,患者存在新发的抗肌萎缩蛋白基因无义突变。

Objective To summarize the genetic and clinical characteristics of a family with Duchenne muscular dystrophy (DMD) with cardiac damage as the first symptom. Methods The results of clinical observations, laboratory tests, chest radiographs, electromyography, echocardiography, muscle tissue biopsies, and DMD gene mutations were collected. Results Patients with probands and family members met the diagnosis of DMD. However, cardiac enlargement was the first symptom, presenting as abnormal myocardial enzyme spectrum, abnormal electrocardiogram, and dilated cardiomyopathy in echocardiography, while skeletal muscle involvement was not obvious. One nonsense pathogenic mutation c.5632C>T, p(Gln1878^*) of exon 40 in the DMD gene was identified in the patients with probands and family members. Conclusion The patients of this family met the diagnosis of x-linked dilated cardiomyopathy, and a new nonsense pathogenic mutation of DMD gene was identified in this family.

目的 探讨激光心肌血运重建(Transmyocardial Laser revascularization, TMLR)辅助冠状动脉旁路移植术治疗严重冠心病的临床疗效及 11年随访结果。方法 25例严重冠心病患者行不停跳冠状动脉旁路移植术(off-pump coronary artery bypass, OPCAB)并辅以激光心肌血运重建术(TMLR组),回顾性总结了其术前、术中、术后及 11年随访资料,并与同期进行的 95例单纯不停跳冠状动脉旁路移植术(OPCAB组)病人资料进行比较分析。结果 TMLR组在平均远端吻合口数比 OPCAB组少,而手术时间、术后硝普钠用量比OPCAB组多,其他如术后机械通气时间、ICU停留时间、术后住院天数和术后常见并发症,2组之间均无差异;平均 11年随访资料中,胸闷痛、心衰、新出现 ST-T改变发生率、再发急性心梗、再次 PCI处理、LVEF和血管桥闭塞率,2组间无明显区别;死亡率二者之间也没有区别。结论 TMLR术辅助冠状动脉旁路移植术虽然手术时间比较长,血管活性药物应用较多,但术后康复和 11年随访资料显示与单纯 OPCAB术有相似的结果,说明 TMLR术作为冠状动脉旁路移植术的补充,对那些冠脉血管细小且钙化狭窄严重而不适合冠状动脉旁路移植术的冠心病患者是获益的。

Objective To explore and analyze the clinical effect of off-pump coronary artery bypass (OPCAB) combined transmyocardial laser revascularization(TMLR) of severe coronary artery disease and 11 years follow-up. Methods 25 cases with sever coronary artery disease were treated through OPCAB and TMLR, and the clinical data and 11 years follow-up data were summarized and analyzed retrospectively, compared with the data of the patients treated by only OPCAB. Results There were less mean bypass graft numbers in TMLR group than in OPCAB group. Operation time and the amount of sodium nitroprusside in TMLR group were more than that in OPCAB group. But intubation time, ICU stay time, postoperative stay time and postoperative common complications were not different between two groups. 11 years postoperative follow-up results indicated that chest pain, heart disfunction, ST-T alteration, AMI, PCI treatment again, LVEF and bypass graft occlusion rate were not obviously between two groups. Conclusion TMLR combined OPCAB may result in good outcome and improve long term survival.

目的 本研究通过调查中国华南地区一间大型医疗机构(综合医院)中护士日间过度嗜睡的发生率及相关影响因素。方法 纳入了1 102名在职护士要求他们在一段规定的时间内完成一份自我报告问卷,其中包括人口学资料采集、生活习惯(BMI、小睡习惯、打鼾等)、失眠、抑郁、焦虑、MEQ分型、倒班、工作兴趣等与工作及睡眠相关的特征。了解EDS在被试人群中的发生率及其影响因素。结果 共有1 048名护士有效的完成了问卷(应答率为95.1%)。其中169名(16.1%)护士存在日间过度嗜睡(EDS)。抑郁症状(校正后的OR值= 2.24,95%的可信区间 1.51～3.31)、焦虑症状(1.65; 1.02～2.67)、失眠(2.29; 1.56～3.36)、倒班工作(1.98; 1.03～3.83)和对工作的低兴趣(1.74; 1.01～2.99)是EDS发生的独立危险因素。结论 日间过度嗜睡(EDS)在华南地区的综合医疗机构中的青年护士群体中普遍存在。EDS的发生可能与抑郁症状、焦虑症状、失眠、倒班工作和对工作的低兴趣存在相关。

Objective To investigate the prevalence and correlates of excessive daytime sleepiness EDS in a population of hospital nurses in South China. Methods A total of 1 102 nurses working in a large medical center were invited to participate in this cross-sectional study (females 96.9%,mean age 29.6 years). They all completed a self-reported questionnaire consisting of items on demographic variables,lifestyle factors,insomnia,anxiety,depression,and both work-related and sleep related characteristics. Results A total of 1 048 nurses gave a valid response (response rate 95.1%). Among them,169 (16.1%) reported EDS as defined as an Epworth Sleepiness Scale≥14. Depression (adjusted odds ratio=2.24,95% confidence interval 1.51～3.31),anxiety (1.65; 1.02 ～2.67),insomnia (2.29; 1.56～3.36),rotating shift work (1.98; 1.03～3.83) and low interest in work (1.74; 1.01～2.99) were all independent risk factors of the occurrence of EDS. Conclusion EDS were common among this relatively young and healthy nurse population in south China. There were clear associations with EDS and depression,anxiety,insomnia,rotating shift work and low work-related interest.

目的 观察实施微信式延续护理干预对真菌性外耳道炎患者心理状态及治疗效果的影响。方法 选取我院2018 年12月—2019年12 月期间门诊治疗的110例真菌性外耳道炎患者为观察对象,将所选患者随机分为常规组和干预组,常规组55例,采取常规护理;干预组55例,在常规护理的基础上实施微信式延续护理干预。观察两组患者的心理状态及治疗依从性、治疗效果的变化。结果 干预组患者心理状态的改善、治疗依从性、治疗效果均优于常规组,差异有统计学意义(P＜0.05)。结论 在给予真菌性外耳道炎患者实施护理干预的过程中,加入微信式延续护理干预,患者的心理状态得到改善、治疗依从率增加及患者治疗的总有效率提高。因此微信式延续护理干预值得在临床护理中进一步推广。

Objective To observe WeChat continuous nursing intervention on mental state and therapeutic efficacy of fungal external auditory meatus. Methods 110 cases of fungal external auditory meatus treated in our hospital from December 2018 to December 2019 were selected as the observation objects,The selected patients were randomly divided into the conventional group and the intervention group,There were 55 cases in the conventional group,taking regular care; there were 55 cases in the intervention group,on the basis of routine nursing,WeChat continuous nursing intervention was implemented. The psychological status and treatment compliance of the two groups were observed,also changes in treatment outcomes. Results The improvement of psychological state,treatment compliance and treatment effect in the intervention group were better than that in the conventional group.The difference was statistically significant(P＜0.05). Conclusion In the course of nursing intervention for patients with fungal external auditory meatus,WeChat continuous nursing intervention was added.The psychological state of the patients has been improved,the rate of treatment compliance is increased and the total effective rate of treatment is increased greatly.Therefore,WeChat continuous nursing intervention is worthy of further promotion in clinical nursing.

目的 分析毕节地区新型冠状病毒(2019-nCoV)肺炎(novel coronavirus pneumonia,NCP)胸部CT影像学表现,探讨对NCP的临床诊断的价值。方法 回顾性分析毕节市第三人民医院2020年1月14日至2月18日收治的13例NCP患者的流行病学特征及胸部CT影像学特征。结果 13例患者中2例为长期居住在武汉来毕;1例由从上海到湖北宜昌逗留3天返毕;1例直接与武汉当地人接触;3例为与确诊病人的密切接触者;5例是聚集性发病,均与从浙江省台州市返毕确诊病人密切接触;1例无流行病学史。胸部CT影像学以双肺或一侧肺散在斑片状、磨玻璃状高密度影,密度不均,边界不清,肺野外带显著为特征。重型患者短期内肺部CT影像学变化明显。结论 确诊NCP普通型患者胸部CT影像学大多以典型表现为特征;重型NCP患者短时间内可出现实变及肺纤维化。

Objective To analyze the novel coronavirus (2019-nCoV) novel coronavirus pneumonia (NCP) chest CT imaging findings in Bijie area, and to explore the clinical diagnostic value of NCP. Methods The epidemiological characteristics and chest CT features of 13 NCP patients admitted to The Third People's Hospital of Bijie from January 14 to February 18, 2020 were analyzed retrospectively. Results Among the 13 patients, 2 lived in Wuhan for a long time, 1 stayed for 3 days from Shanghai to Yichang, Hubei, and returned home; 1 directly contacted with the local people in Wuhan; 3 closely contacted with the confirmed patients; 5 were clustered diseases, all closely contacted with the confirmed patients returning from Taizhou, Zhejiang province; 1 had no epidemiological history. CT imaging of the chest is characterized by patchy, ground glass high-density shadows scattered in two or one side of the lung, with uneven density, unclear boundary and significant lung field zone. Conclusion Most of the chest CT images of the patients with NCP were characterized by typical manifestations, while consolidation and pulmonary fibrosis were found in the patients with severe NCP in a short period of time.

目的 探讨河源地区机采血小板固定献血者血小板抗原系统的基因多态性特征,为建立本地区机采血小板供血者库奠定基础。方法 采用PCR-SSP方法对100例机采血小板固定献血者进行血小板抗原HPA1～17系统基因分型。结果 HPA1～17基因中成多态性分布的等位基因是HPA2a、HPA3a、HPA5a、HPA15a,其频率分别为0.96、0.49、0.99、0.515。HPA-2、HPA-3、HPA-5、HPA-15系统存在aa、ab、bb 三种表型。HPA1a、HPA4a、HPA6a-14a、HPA16a-17a基因频率为1,呈单线性分布,未发现b基因。结论 河源地区血小板HPA-3系统不配合率最高(0.420),HPA-15系统次之。建立本地区机采血小板供血者库,为患者提供HPA相合的血小板,对减少临床血小板输注无效的发生具有重要意义。

Objective To study the polymorphism of human platelet antigens in fixed apheresis platelet donors in Heyuan area and to lay a foundation for the establishment of platelets donor bank. Methods PCR-SSP method was used to analyze HPA 1～17 genotype in 100 fixed platelet donors. Results The highest numbers of heterozygotes were HPA2a,HPA3a,HPA5a and HPA15a,with frequencies of 0.96,0.49,0.99 and 0.515,respectively. The frequencies of HPA1a,HPA4a,HPA6a-14a and HPA16a-17a genes were 1,which showed a single linear distribution. Conclusion HPA-3 system were the highest mismatch rate (0.420),followed by HPA-15 system. It is great significance to establish a local platelet donor bank and provide HPA compatible platelets for patients.

目的 分析超声引导下经皮肾穿刺活检术对弥漫性肾病进行病理诊断的临床应用价值。方法 回顾性分析我院275例弥漫性肾病患者经超声引导下行经皮肾穿刺活检术进行诊断的情况,针对上述患者的穿刺活检情况、穿刺满意度、取材成功率、并发症发生状况、弥漫性肾病病理分型结果以及术后诊断更正的情况进行分析。结果 275例患者穿刺满意度、取材成功率、并发症总发生率分别为94.91%,100%、10.91%。275例患者术后并发症的发生与年龄、穿刺次数、肾实质厚度、术前血肌酐水平有关。275例患者以膜性肾病、IgA肾病居多,分别占比23.27%、18.55%。275例患者术后诊断更正率为19.79%。结论 超声引导下经皮肾穿刺活检术是一种安全有效的弥漫性肾病诊断方法,其术后并发症发生率较低且较轻。在弥漫性肾病病理分型诊断中以膜性肾病、IgA肾病的发病率较高。超声引导下经皮肾穿刺活检术可早期诊断弥漫性肾病的病理类型,为确定治疗方案提供可靠依据,改善肾脏疾病的预后。

Objective To analyze the clinical value of ultrasound-guided percutaneous renal biopsy for pathological diagnosis of diffuse renal disease. Methods Retrospective analysis of 275 patients with diffuse renal disease in our hospital underwent ultrasound-guided percutaneous renal biopsy for diagnosis. According to the above-mentioned patients' biopsy status,puncture satisfaction,success rate of material extraction,complications,and diffuse results of pathological typing of nephropathy and correction of postoperative diagnosis were analyzed. Results The satisfaction rate of puncture,the success rate of material extraction and the total incidence of complications were 94%,100%,and 10.91%,respectively. The incidence of postoperative complications in 275 patients was related to age,number of punctures,thickness of renal parenchyma,and preoperative serum creatinine levels. Membrane nephropathy and IgA nephropathy were the most common in 275 patients,accounting for 23.27% and 18.55% respectively. The correction rate of postoperative diagnosis in 275 patients was 19.79%. Conclusion Ultrasound-guided percutaneous renal biopsy is a safe and effective method for diagnosing diffuse nephropathy,and the incidence of postoperative complications is low and mild. Membrane nephropathy and IgA nephropathy have a higher incidence in the diagnosis of diffuse nephropathy. Ultrasound-guided percutaneous renal biopsy may early diagnose the pathological type of diffuse renal disease,provide a reliable basis for determining the treatment plan,and improve the prognosis of renal disease.

目的 本研究通过已建立的稳定表达人血小板CD36的HEK293T细胞系,制备鼠源的抗人CD36单克隆抗体并进行特性鉴定。方法 利用已经建立的稳定表达人血小板CD36的HEK293T细胞系对CD36(-/-)C57小鼠进行免疫,取脾脏与小鼠骨髓瘤细胞融合,筛选出阳性克隆。纯化单克隆抗体后,利用Western blot检测抗体结合活性。利用小鼠IgG类/单抗亚型鉴定试剂鉴定单克隆抗体的抗体亚型。通过流式细胞检测和血小板抗原单克隆抗体特异性免疫固定检测(MAIPA)鉴定其诊断应用价值。结果 经筛选后得到一株杂交瘤细胞,抗体亚型为IgG2a,轻链为κ链,Western blot试验表明该单克隆抗体特异性识别人血小板CD36抗原。MAIPA结果显示,与商业化单克隆抗体FA6-152相比,该单克隆抗体灵敏度更高。结论 成功制备了一种鼠抗人CD36单克隆抗体,为临床鉴定CD36抗体,筛选CD36阴性献血员提供了新的工具,也为今后进一步研究CD36在血液免疫疾病中作用机制提供了实验基础。

Objective In this study, by the established HEK293T cell line with stable expression of human platelet CD36, murine anti-human CD36 monoclonal antibody was prepared and characterized. Methods The established HEK293T cell line with stable expression of human platelet CD36 was used to immunize CD36 (-/-) C57 mice, and the spleen was fused with mouse myeloma cells to screen for positive cloning.After the purification of monoclonal antibody, the antibody binding activity was detected by Western blot.Mouse rapid antibody isotyping reagent was used to identify the subtype of monoclonal antibody.Its diagnostic value was evaluated by flow cytometry and monoclonal antibody-specific immobilization of platelet antigen (MAIPA). Results After screening, a high-producing hybridoma cell was obtained, the subtype of monoclonal antibody was IgG2a and the light chain was κ chain. Western blot analysis showed that the monoclonal antibody could specifically recognize CD36 antigen of human platelet. MAIPA results showed that the monoclonal antibody was more sensitive than the commercial monoclonal antibody FA6-152. Conclusion It is concluded that a mouse anti-human CD36 monoclonal antibody with biological activity has been obtained, which provides a new tool for the clinical identification of CD36 antibody and the screening of CD36 negative blood donors, and also provides an experimental basis for further research on the mechanism of CD36 in blood immune diseases.

目的 研究NR3C1(核受体亚科3,C组,成员1)又称糖皮质激素受体(GR)表达量对前列腺癌恶性程度的影响及其与前列腺癌生化复发的相关性。方法 通过组织芯片免疫组化染色检测的方法检验NR3C1在不同恶性程度前列腺癌组织的表达情况,结合Taylor数据库分析NR3C1表达水平与前列腺癌临床病理特征关系,再采用Kaplan-Meier法分析NR3C1对前列腺癌生化复发生存率的影响,最后用Cox回归分析临床病理特征与生化复发的相关性。结果 组织芯片免疫组化结果显示NR3C1在Gleason评分低的前列腺癌组织中表达高于Gleason评分高的前列腺癌组织(P=0.028)。结合Taylor公用数据库分析,NR3C1在前列腺癌组织中的表达低于癌旁组织(P＜0.001),NR3C1在Gleason评分低的前列腺癌组织中表达高于Gleason评分高的前列腺癌组织(P=0.005),NR3C1低表达与PSA复发(P=0.028)和转移(P=0.003)相关。Kaplan-Meier结果提示:NR3C1高表达组患者术后的生化复发生存率更高(P=0.043),总体生存率没有明显区别(P=0.872)。单因素分析结果显示:NR3C1(P=0.002),病理分期(P＜0.001),Gleason评分(P＜0.001),是否转移(P=0.012)是前列腺癌生化复发的影响因素。多因素分析结果显示:高Gleason 评分(P=0.017)和转移(P<0.001)均为生化复发危险因素。结论 NR3C1影响前列腺癌的发病进程,检验NR3C1的表达情况,能预测前列腺癌患者生化复发的概率,可协助判断前列腺癌预后。

Objective We study the role of NR3C1 (nuclear receptor subfamily 3,group C,member 1) in PCa progression,and the correlation between its expression level and the biochemical recurrence of PCa. Methods Immunohistochemistry was used to detect the expression of NR3C1 in PCa tissues of different degrees of malignancy. The associations of NR3C1 expression and clinical pathological features were analyzed using the Taylor dataset. Kaplan-Meier was used to detect the relationship between NR3C1 expression and biochemical recurrence survival rate in PCa. Cox-regressive analysis was used to detect the relationship between clinical pathological features and biochemical recurrence. Results Immunohistochemistry analysis showed the expression of NR3C1 was higher in which its Gleason Score was lower(P=0.028). Base on the Taylor dataset,the expression of NR3C1 was higher in the adjacent benign tissues than that in PCa(P＜0.001). The expression of NR3C1 was higher in which its Gleason Score was lower(P=0.005). Furthermore,low NR3C1 expression was associated with PSA failure(P=0.028) and Metastasis(P=0.003). Kaplan-Meier showed the biochemical recurrence-free time of PCa patients in low NR3C1 expression groups reduced(P=0.043). The overall survival time of PCa patients was not correlated to NR3C1 expression levels(P=0.872). Single factor analysis showed the biochemical recurrence is associated with NR3C1 expression(P=0.002),pathological stage(P＜0.001),Gleason score(P＜0.001), Metastasis status(P=0.012). Multivariate analysis by Cox regression further identified the high Gleason Score(P=0.017) and Metastasis status (P<0.001)were hazards of the biochemical recurrence. Conclusion Our study showed that the expression of NR3C1 critically connected with the process of PCa,which indicated that we can predict the probability of the biochemical recurrence and determine the prognosis of prostate cancer by detecting the expression of NR3C1 in PCa patients.

目的 分析AngioJet血栓抽吸联合髂静脉支架在下肢深静脉血栓合并髂静脉压迫的临床疗效。方法 2016年1月—2019年6月在揭阳市人民医院普外一科收治的首发髂股DVT并在AngioJet吸栓或联合导管溶栓后置入支架的患者,比较吸栓后直接支架置入和溶栓再分期支架置入的治疗效果。结果 本研究共纳入50例接受支架手术的DVT患者,其中治疗组29例,分期置入组21例。治疗组临床症状缓解率和住院时间优于对照组,差异有统计学意义(P＜0.05),且出血风险更低。 而置入支架长度和直径无差异,治疗组的3个月、6个月和12个月的通畅率、静脉返流时间和 Villalta评分均无差异(P＞0.05)。结论 AngioJet血栓清除后直接支架置入术是治疗合并髂静脉压迫的下肢深静脉血栓的有效方法,临床改善更快,住院时间显著缩短。

Objective To analyze the clinical effect of AngioJet thrombus aspiration combined with iliac vein stent in deep vein thrombosis of the lower extremity with iliac vein compression. Methods From January 2016 to June 2019, patients with first iliofemoral DVT and stent implantation after AngioJet thrombolysis or combined catheter thrombolysis were treated in the first department of general surgery, Jieyang People's Hospital. The therapeutic effects of direct stent implantation and stent implantation after thrombolysis were compared. Results A total of 50 patients with DVT who underwent stent surgery were included in this study, including 29 in the treatment group and 21 in the staging group. The clinical symptom relief rate and length of stay in the treatment group were better than those in the control group, the difference was statistically significant (P<0.05), and the risk of bleeding was lower. There was no significant difference in stent length and diameter. There were no significant differences in patency rate, venous reflux time, and Villalta score in the treatment group at 3 months, 6 months, and 12 months (P>0.05). Conclusion Direct stent placement after AngioJet thrombectomy is an effective method for treating deep venous thrombosis of lower limbs with iliac vein compression. The clinical improvement is faster and the length of hospital stay is significantly shortened.