SLC25A15基因复合杂合突变致HHH综合征1例报告并文献复习

目的探讨高鸟氨酸血症-高氨血症-高同型瓜氨酸尿症(HHH综合征)的临床及基因突变特点。方法回顾分析1例HHH综合征患儿的临床资料,并复习文献。结果患儿,女,2岁2个月,平素厌食高蛋白食物。生后反应弱,独走后出现共济失调,感染后加重。实验室检查示高氨血症、转氨酶升高及凝血异常。头颅MRI示半卵圆中心白质容积减少。基因检测示患儿携带SLC25A15基因c.190TC(p.Y64H)及c.278GA(p.R93Q)复合杂合突变,分别来自表型正常的父母。结论 HHH综合征临床表现以神经系统及肝脏受累为主要,需与其他尿素循环障碍及肝脏疾病相鉴别。     

2769例先天性泪道阻塞的临床分析

目的探讨治疗先天性泪道阻塞的有效措施及临床特点。方法收集先天性泪道阻塞的患儿2769例,采用局部按摩、加压冲洗保守方法治疗,治疗无效或家长要求手术者行泪道探通术,观察各治疗方法的治愈率。结果经按摩、冲洗或探通共治愈3498只眼,总治愈率达98.48%,其中保守治疗治愈率达32.92%,探通手术的治愈率可达97.77%。结论先天性鼻泪管阻塞的患儿,早期进行保守治疗十分必要,可大大提高自愈率,而泪道探通术是简单易行、治愈率高的方法。     

DNA repair gene XRCC3 Thr241Met polymorphism and hepatocellular carcinoma risk

The DNA repair genes have been indicated as candidates in the risk of hepatocellular carcinoma (HCC). Published data on the association between X-ray repair cross-complementing group 3 (XRCC3), a critical member of the DNA repair genes, and HCC risk were contradictory. The aim of this meta-analysis was to assess the effect of XRCC3 Thr241Met polymorphism on HCC risk by pooling available data from published case–control studies. We calculated the pooled odds ratio (OR) with the corresponding 95 % confidence interval (95 % CI) to estimate the effect. Based on the inclusion criteria, six individual studies with 2,288 cases and 3,170 controls were included into our study. Overall, significant association between the XRCC3 Thr241Met variant and HCC risk was observed under the following contrast models (OR_{Met vs. Thr}?=?1.68, 95 %CI 1.08–2.62; OR_{MetMet vs. ThrThr}?=?5.54, 95 %CI 3.09–9.94; OR_{MetMet vs. ThrThr?+?ThrMet}?=?5.70, 95 % CI 4.24–7.64). Besides, the pooled ORs indicated that the XRCC3 Thr241Met polymorphism exerted risk effect on the HCC pathogenesis among Asians. Additionally, when stratifying by the status of smoking and hepatitis B virus infection, the XRCC3 Thr241Met variant was significantly associated with HCC risk among the HBsAg (+) individuals but not the HBsAg (?) individuals, smokers, and non-smokers. The present meta-analysis suggests that the XRCC3 Thr241Met polymorphism is an independent risk factor for HCC, particularly among Asians and the HBsAg (+) individuals.     

Evaluation of nosocomial infection risk using APACHE II scores in the neurological intensive care unit

To evaluate the feasibility and accuracy of using the Acute Physiology, Age and Chronic Health Evaluation II (APACHE II) scoring system for predicting the risk of nosocomial infection in the neurological intensive care unit (NICU), 216 patients transferred to NICU within 24 hours of admission were retrospectively evaluated. Based on admission APACHE II scores, they were classified into three groups, with higher APACHE II scores representing higher infectious risk. The device utilization ratios and device-associated infection ratios of NICU patients were analyzed and compared with published reports on patient outcome. Statistical analysis of nosocomial infection ratios showed obvious differences between the high-risk, middle-risk and low-risk groups (p < 0.05). The area under the receiver operating characteristic curve of the APACHE II model in predicting the risk of nosocomial infection was 0.81, which proved to be reliable and consistent with the expectation. In addition, we found statistical differences in the duration of hospital stay (patient-days) and device utilization (device-days) between different risk groups (p < 0.05). Thus the APACHE II scoring system was validated in predicting the risk of nosocomial infection, duration of patient-days and device-days, and providing accurate assessment of patients’ condition, so that appropriate prevention strategies can be implemented based on admission APACHE II scores.     

基于全科医生视角的《2020年美国风湿病学会痛风治疗指南》解读

近年来，国内外痛风治疗指南不断更新，使痛风诊治逐渐变得规范。随着《2020年美国风湿病学会痛风治疗指南》的公布，一些模糊的概念越来越清晰。痛风作为一种常见病、多发病，全科医生在痛风的治疗中起着至关重要的作用。本文将从全科医生的角度论述《2020年美国风湿病学会痛风治疗指南》，并与我国最新版痛风治疗指南进行对比，为全科医生诊治痛风提供参考建议。