Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Patients with IRD may have their clinical diagnosis confirmed by genetic testing. Over the past 30 years, rapid advances in molecular genetics have raised the disease-causing gene variant detection rate and the accuracy of genetic testing, which provide hope to patients. The genetic diagnosis of patients with IRD is complicated due to the overlapping clinical phenotypes, and the fact that different variants lead to different phenotypes and severity even of the same gene. It is very important to overall evaluate the clinical phenotype of patients, precisely select genetic testing methods, and reasonably define disease-causing genes and variants during genetic diagnosis, which can guide the patient's subsequent treatment and provide genetic counseling.
Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Genetic diagnosis has become one essential method for patients with IRD in their clinical management. So far, about 30% of the patients with IRD cannot get molecular diagnosis (no pathogenic variant detected or only mono-allele variant identified in AR genes) using target or whole exome sequencing. Most missing heritability or variants for these patients were variants located in no-coding regions (deep intron or promoter regions) and structure variants of the known IRD genes. It is more challenge to reveal this kind of missing variants, which need using whole genome sequencing combined with other cellular or molecular assays.
目的 探讨成都地区中老年人群的腰高比值（WHtR）与血压、血脂、血糖的关系。 方法 2007年5月间在成都市地中老年人群（688人）中用统一编制的调查表记录被调查者的血压、血脂、血糖、WHtR等指标，并用相关统计学数据进行分析。 结果 ① 成都地区中老年人群WHtR≥0.5的高血压、高血脂、高血糖的发病率明显高于对照组（P＜0.05），且有统计学意义。② 年龄、收缩压、舒张压、甘油三酯和血糖水平，WHtR≥0.5组明显高于WHtR＜0.5组，而WHtR≥0.5组高密度脂蛋白水平低于WHtR＜0.5组，且组间差异均有统计学意义。③ logistic 回归分析表明WHtR与年龄、收缩压、舒张压、甘油三酯、空腹血糖水平呈正相关，与高密度脂蛋白水平呈负相关。 结论 成都地区中老年人群WHtR与血压、血脂及血糖关系密切，可能可以通过改善血压、血脂、空腹血糖等指标来减少WHtR，中老年人群要加强对 WHtR 的自我管理, 尽可能将心血管疾病危险因素降到最低。
ObjectiveTo summarize the progress of surgical treatment of colorectal cancer in recent years from the anatomical features of the mesorectum, aiming to provide a new basis for surgical treatment of colorectal cancer. MethodThe relevant literatures about total mesorectal excision and complete mesocolic excision in colorectal cancer surgery in recent years were reviewed. ResultsTotal mesorectal excision and complete mesocolic excision significantly reduced the local recurrence rate of patients with colorectal cancer, improved the tumor-free survival rate and overall survival rate, and significantly improved the prognosis of patients, which may benefited from the surgeon’s detailed anatomy of mesenteric plane. In addition, based on current evidence, total mesorectal excision for colorectal cancer was safe and had fewer postoperative complications, which helped to promote the standardization of surgical treatment of colorectal cancer. ConclusionsTotal mesorectal excision and complete mesocolic excision can significantly improve histopathological prognosis compared with conventional surgery, but the advantages of long-term oncological prognosis need further study. In recent years, the combination of new techniques such as laparoscopy, robotic surgery and natural lumens, and mesenteric resection has provided new directions and new ways for surgical treatment of colorectal cancer.
【摘要】 目的 了解北京地区400例新型甲型H1N1流感患者的流行病学和临床特征，总结规律，进一步指导临床诊治。 方法 2009年5-12月期间，收治400例甲型H1N1流感确诊病例，主要采用描述性流行病学方法对患者资料进行回顾性分析，并运用单因素方差分析的方法对结果进行检验。 结果 患者以青年和儿童人群为主，47.0%的患者有明确甲型H1N1流感接触史，主要症状包括发热（98.8%）、咳嗽（85.8%）、咽痛（58.5%）。咽部充血（94.0%）和扁桃体肿大（49.5%）为主要体征。外周血白细胞正常或偏低，349例（82.3%）患者血清铁降低，268例（72.6%）患者C反应蛋白升高。在发病后不同时间内给予奥司他韦治疗的患者发热持续时间和咽拭子的阴转时间有显著差异（Plt;0.001）。 结论 新型甲型H1N1流感发病多以青年和儿童人群为主，以流感样症状为主，多数症状轻微，预后良好，C反应蛋白和血清铁的变化可能对于早期诊断有指导价值，奥司他韦早期抗病毒治疗可以缩短病程。【Abstract】 Objective To investigate the clinical and epidemiologic characteristics of pandemic influenza A (H1N1) virus infection in Beijing. Methods The epidemiological information and clinical characteristics of 400 patients with pandemic influenza A (H1N1) virus infection hospitalized in Beijing 302 Hospital from May to December, 2009 were analyzed retrospectively by descriptive epidemiology. One-way ANOVA was used to assess the results. Results H1N1 virus infection preferentially affected adolescents and young adults. The mean age of the patients was 23 years. A total of 189 (47.0%) of the patients had an identifiable epidemiologic link to another confirmed patient. The most common symptoms were fever (98.8%), cough (85.8%) and sore throat (58.5%). The main physical signs were pharyngeal portion congestion (94.0%) and antiadoncus (49.5%). The number of leukocytes in the peripheral blood was normal or low. The decreased serum iron and elevated C-reaction protein were found in 82.3% and 72.6% of the patients. There was significant difference in the duration of fever and viral shedding from throat swabs among the patients who accept the antiviral medication within the different time. Conclusion H1N1 virus infection preferentially affects adolescents and young adults, and presents with influenza-like illness. The clinical course of H1N1 virus infection is generally mild. The change of C-reaction protein and serum iron may be favorable for the diagnosis of H1N1. Early antiviral treatment may shorten the duration of fever and viral shedding.
【摘要】 目的 分析成都地区中老年居民脉压（pulse pressure， PP）及脉压指数（pulse presure index，PPI）与高尿酸血症（hyperuricemia，HUA）的关系。 方法 利用2007年5月代谢综合征研究调查资料（共1 061人），依据PP[≤60 mm Hg（1 mm Hg=0.133 kPa）、gt;60 mm Hg]和PPI（≤0.450、gt;0.450）将人群分为正常组及增高组，分析两组人群尿酸水平及HUA患病率，采用单因素回归及logistic回归分析PP及PPI与HUA关系。 结果 ①PP/PPI增高组血浆尿酸水平明显高于PP/PPI正常组，差异有统计学意义（P=0.000）。②PP/PPI增高组HUA患病率明显高于PP/PPI正常组，差异有统计学意义（P=0.026、0.027）。③单因素回归和logistic回归分析皆提示PP及PPI与HUA呈正相关。 结论 成都地区PP及PPI与血浆尿酸水平关系密切，PP/PPI增高可能是HUA的危险因素。【Abstract】 Objective To evaluate the relationship between pulse pressure (PP), pulse pressure index (PPI) and hyperuricemia (HUA) among middle-aged and aged residents in Chengdu. Methods Based on the level of PP [≤60 mm Hg (1 mm Hg=0.133 kPa),gt;60 mm Hg] and PPI (≤0.450,gt;0.450), We divided the 1 061 middle-aged or aged people into normal PP/PPI group and augmented PP/PPI group. All patients came from the survey for metabolic syndrome study in May 2007. We analyzed the distribution of serum uric acid (UA) and HUA, and analyzed the relationship between PP, PPI and HUA by using single-factor and logistic regression analysis. Results The index of UA in the augmented PP/PPI groups was higher than that in the normal groups with a significant difference (P=0.000). The prevalence of HUA in the augmented PP/PPI groups was statistically higher than that in the normal groups (P=0.026, 0.027). Single-factor and logistic regression analysis showed that PP and PPI were both positively correlated to HUA. Conclusion The abnormalities of PP and PPI are closely related to metabolism disorder in Chengdu, and high level of PP or PPI is probably risk factors for HUA.