中国法布雷病诊疗专家共识(2021年版)

法布雷病是一种罕见的X连锁遗传溶酶体贮积症,是由于GLA基因突变导致α半乳糖苷酶A(α-Gal A)活性降低或完全缺乏,造成代谢底物三己糖酰基鞘脂醇(GL-3)及其衍生物脱乙酰基GL-3(Lyso-GL-3)在多脏器贮积,引起多脏器病变甚至引发危及生命的并发症。由于法布雷病缺乏特异性症状,因此需结合临床表现、酶活性、生物标志物及基因检测等结果协助临床早期诊断。随着阿加糖酶β和阿加糖酶α在我国获批上市,将为我国法布雷病患者带来特异性治疗的福音。本共识以循证医学为基础,对法布雷病的临床表现、诊断方法和流程、治疗、筛查、遗传咨询与产前诊断等方面进行阐述,为推动法布雷病的规范化诊疗提供依据。     

Manejo clínico de la EPOC en situación de vida real. Análisis a partir de big data

ObjectiveThe aim of this study was to evaluate the quality of diagnosis and treatment of COPD using Big Data methodology on the Savana Manager 2.1 clinical platform.Materials and methodsA total of 59,369 patients with a diagnosis of COPD were included from a population of 1,219,749 adults over 40 years of age.ResultsIn total, 78% were men. Spirometry data were available for only 26,453 (43.5%) subjects. Disease severity was classified in 18,172 patients: 4,396 mild, 7,100 moderate, and 6,676 severe, although only 27%, 34%, and 28%, respectively, presented obstructive spirometry.The clinical management of COPD is mainly the responsibility of the primary care and pulmonology departments, while internal medicine and, to a lesser extent, geriatrics also participate. Drug treatment was based on bronchodilators and inhaled corticosteroids (ICS). A marked decline in the use of long-acting beta-2 agonists (LABA) in monotherapy and a slight reduction in ICS/LABA combinations, associated with a LAMA in 74% of cases, was observed.All-cause in-hospital mortality among the overall population was 5.6% compared to 1% of the general population older than 40 years. In total, 35% were admitted to hospital, with an average stay of 6.6 days and a rate of hospital mortality in this group of 10.74%.DiscussionThis study identifies the main features of an unselected COPD population and the major errors made in the management of the disease.     

Impact of serum uric acid levels on cardiovascular events and quality of life in patients with chronic coronary syndromes: Insights from a contemporary,prospective, nationwide registry

Background and aimsHyperuricemia is a metabolic disorder that has been associated with adverse cardiovascular (CV) events. Using the data from a nationwide, prospective registry on patients with chronic coronary syndromes (CCS), we assessed the impact of serum uric acid (SUA) levels on quality of life (QoL) and major adverse CV events (MACE), a composite of CV death and hospitalization for myocardial infarction, heart failure (HF), angina or revascularization at 1-year.Methods and resultsAmong the 5070 consecutive CCS patients enrolled in the registry, levels of SUA were available for 2394 (47.2%). Patients with SUA levels available at baseline were grouped as low tertile (n = 860; 4.3 [3.7–4.7] mg/dL), middle tertile (n = 739; 5.6 [5.3–5.9] mg/dL) and high tertile (n = 795; 7.1 [6.7–7.9] mg/dL). At 1 year, the incidence of MACE was 3.7%, 4.1% and 6.8% for low, middle and high tertiles, respectively (p = 0.005 for low vs high tertile). Patients in the high tertile of SUA had a significantly higher rate of CV mortality (1.4% vs 0.4%; p = 0.05) and hospital admission for HF (2.8% vs 1.6%; p = 0.03) compared to the low tertile. However, hyperuricemia did not result as an independent predictor of MACE at multivariable analysis [hazard ratio: 1.27; 95% confidence intervals: 0.81–2.00; p = 0.3].ConclusionsIn this contemporary, large cohort of CCS, those in the high tertile of SUA had a greater burden of CV disease and worse QoL. However, SUA did not significantly influence the higher rate of CV mortality, hospitalization for HF and MACE observed in these patients during 1-year follow-up.     

学龄儿童功能性腹痛的临床特点分析与治疗

目的：探讨分析学龄儿童功能性腹痛的临床特点与治疗方法及效果。方法选取2012年1月～2013年12月间收治的100例功能性腹痛学龄儿童（6岁～12岁）,随机分为观察组和对照组各50例。观察组给予化积颗粒治疗,对照组给予消旋山莨菪碱片治疗,分析两组患儿的临床特点,观察比较两组患儿的疗效和安全性。结果学龄儿童功能性腹痛的临床特点为男性少于女性（40/60,1∶1.5）,6～7岁患儿多于8～12岁（65/35,1.86∶1）,病程多为2～3个月;观察组治疗后在总有效率、中医症候评分、不良反应发生率方面均明显优于对照组,差异具统计学意义（P＜0.05）。结论学龄儿童功能性腹痛的临床特点为多为女性患儿,年龄在6～7岁患儿,病程在2～3个月。给予化积颗粒治疗的疗效显著,安全性高。     

2016—2020年广州市耐药结核病患者不良治疗结局状况及其影响因素分析

目的: 分析广州市耐药结核病患者不良治疗结局状况及其相关影响因素。 方法: 采用回顾性队列研究的方法,从《中国结核病管理信息系统》中导出2016年1月1日至2020年12月31日在广州市胸科医院登记治疗的符合选例要求的677例耐药结核病患者病案数据,分析不良治疗结局的发生情况及其影响因素。 结果: 677例研究对象中,193例(28.5%)治疗成功、280例(41.4%)在治、204例(30.1%)出现了不良治疗结局(包括13例因发生不良反应停止治疗、9例失败、32例死亡、150例失访)。其中,发生不良治疗结局患者的中位生存时间为729d。基于完整数据集的Cox模型多因素分析显示:广州市外户籍、合并糖尿病、省间流动和年龄增长是耐药结核病患者发生不良治疗结局的危险因素[分别为HR(95%CI)=1.74(1.21~2.49),P=0.002;HR(95%CI)=1.59(1.10~2.32),P=0.015;HR(95%CI)=2.29(1.26~4.18),P=0.007;HR(95%CI)=1.01(1.00~1.03),P=0.011],耐多药是保护因素[HR(95%CI)=0.53(0.36~0.79),P=0.002]。 结论: 耐药结核病患者的不良治疗结局发生率较高,应加强对耐药结核病患者的治疗和长期管理,特别是其中合并糖尿病、流动自外省、年龄更大、因户籍所限不能享受本市医疗优惠待遇的患者。     

中西医结合治疗肺结核的临床疗效研究

目的:评价常规化疗方案联合中成药“抗痨合剂”及中医适宜技术治疗肺结核的临床疗效。方法:采用前瞻性研究的方法,连续纳入2017年1月至2019年12月浙江中医药大学附属丽水中医院结核科诊治的300例初治肺结核患者,采用随机数字表法将患者均等分成3组,即常规西药抗结核治疗组(A组)、常规西药抗结核治疗联合中成药抗痨合剂组(B组)、常规西药抗结核治疗联合中成药抗痨合剂及中医适宜技术组(C组)。剔除24例因诊断变更、中断治疗、发生药物不良反应患者后最终纳入276例患者,其中A组97例、B组93例、C组86例。观察并比较三组患者疗程末的中医症状改善情况、肺部病灶吸收情况、T淋巴细胞亚群变化及治疗转归情况。结果:治疗6个月后,B组和C组中医证状改善有效率[92.5%(86/93)和94.2%(81/86)]、肺部病灶吸收有效率[92.5%(86/93)和94.2%(81/86)]、CD3⁺T淋巴细胞百分比[(65.76±5.42)%和(67.06±5.95)%]、CD4⁺T淋巴细胞百分比[(44.97±5.35)%和(46.51±5.26)%]、治疗成功率[94.6%(88/93)和97.7%(84/86)]均明显优于A组[分别为82.5%(80/97)、76.3%(74/97)、(63.80±4.57)%、(42.72±4.82)%、80.4%(78/97)],差异均有统计学意义(χ²=2.000,P=0.046;χ²=2.999,P=0.003;χ²=2.427,P=0.015;χ²=2.886,P=0.004;t=2.699,P=0.008;t=4.186,P=0.005;t=3.048,P=0.003;t=6.428,P<0.001;χ²=2.069,P=0.039;χ²=2.192,P=0.028)。而B组和C组治疗后外周血CD8⁺T淋巴细胞百分比[(27.12±2.32)%和(26.35±3.17)%]均明显低于A组[(29.12±2.21)%],差异有统计学意义(t=5.051,P<0.001;t=9.231,P<0.001)。结论:中西药联合抗结核治疗可明显减轻肺结核患者的临床症状,促进肺部病灶吸收,提高肺结核患者免疫力,有效提高临床疗效,但中医适宜技术的应用效果未得到证实。     

凝练中国血吸虫病防控成功经验 贡献于WHO指南在全球实施

血吸虫病是一种严重阻碍社会经济发展、威胁公共卫生安全的寄生虫病。为实现2030年全球消除作为一种公共卫生问题的血吸虫病,2022年2月WHO发布了《WHO控制和消除人体血吸虫病指南》,旨在为各国实现控制血吸虫病发病率、将其作为一种公共卫生问题消除及最终达到传播阻断提供循证建议。在历史上血吸虫病曾经严重流行的中国,经过有效防控策略和措施的实施,血吸虫病防控工作取得了重大成绩,逐步迈向消除血吸虫病。本文回顾中国血吸虫病防控策略、防控关键技术和实践的成功经验,贡献于《WHO控制和消除人体血吸虫病指南》的制定与实施。随着“一带一路”倡议的深入推进,世界也期待更多血吸虫病防控领域的“中国方案”。     

徐经世国医大师扶正祛邪治疗肝癌经验总结

国医大师徐经世教授在60余年的临床实践中总结提出肝癌的病机为正虚为本,邪实为标;早期多表现为正虚邪实,木旺土虚;病延日久累及下元,则出现水不涵木的病理表现。正虚是该病的病机关键,治疗应遵循“扶正祛邪,分期论治”的治疗原则,病初应“调和中州,培土达木”为主,病至后期则累及下元,治疗则应“滋水涵木,濡养下元”;同时强调饮食生活起居和情志调护,做到精神内守,从而使邪去正安。