Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1

Stargardt disease 1 (STGD1) is the most prevalent retinal dystrophy caused by pathogenic biallelic ABCA4 variants. Forty‐two unrelated patients mostly originating from Western China were recruited. Comprehensive ophthalmological examinations, including visual acuity measurements (subjective function), fundus autofluorescence (retinal imaging), and full‐field electroretinography (objective function), were performed. Next‐generation sequencing (target/whole exome) and direct sequencing were conducted. Genotype grouping was performed based on the presence of deleterious variants. The median age of onset/age was 10.0 (5–52)/29.5 (12–72) years, and the median visual acuity in the right/left eye was 1.30 (0.15–2.28)/1.30 (0.15–2.28) in the logarithm of the minimum angle of resolution unit. Ten patients (10/38, 27.0%) showed confined macular dysfunction, and 27 (27/37, 73.7%) had generalized retinal dysfunction. Fifty‐eight pathogenic/likely pathogenic ABCA4 variants, including 14 novel variants, were identified. Eight patients (8/35, 22.8%) harbored multiple deleterious variants, and 17 (17/35, 48.6%) had a single deleterious variant. Significant associations were revealed between subjective functional, retinal imaging, and objective functional groups, identifying a significant genotype–phenotype association. This study illustrates a large phenotypic/genotypic spectrum in a large well‐characterized STGD1 cohort. A distinct genetic background of the Chinese population from the Caucasian population was identified; meanwhile, a genotype–phenotype association was similarly represented.     

艾滋病同伴教育在武警新兵中的运用

目的　调查艾滋病同伴教育在武警新兵中的效果。方法　华北地区武警部队训练基地新入伍的41 7名新兵 ,全部为男性 ,年龄在 1 7～ 2 3岁 ,5 8 5 %的人具有高中和中专学历 ,5 9 3 %的人来自农村 ,他们被分成 2组 ,A组采用单纯同伴教育方法 ,同伴教育者为班长 ;B组既采用同伴教育法又发放教育资料 ,同伴教育者为 1名班长和 1名新兵。同伴教育者经过严格挑选和培训 ,教育前后分别对新兵进行问卷调查。结果　教育后两组的艾滋病知识率教育有显著提高 ,对艾滋病的态度 ,教育后B组有明显提高 ,不同教育方法前后AIDS/HIV的知信行得分不同。共中A组知识、态度、行为得分分别为 1 0 2± 0 0 9、 1 0 0± 0 1 0、 1 0 0± 0 1 1 ;B组知识、态度、行为得分分别为 :1 0 7± 0 0 8、 1 0 5± 0 1 0、 1 0 5± 0 0 7(两组有显著差异 ,P <0 0 1 )。结论　艾滋病同伴教育对武警新兵了解艾滋病是有效的 ,再加以发放健康教育资料及播放VCD ,效果更佳。     

依那普利联合阿替洛尔治疗充血性心力衰竭疗效观察

目的研究血管紧张素转换酶抑制剂(ACEI)和β受体阻滞剂联合治疗充血性心力衰竭(CHF)在临床医院中的应用。方法选择 CHF 患者156例,在常规应用强心、利尿等药物的基础上,加用依那普利和阿替洛尔,心衰基本控制后,停用常规强心类药物,并进行1年追踪观察。结果应用依那普利合并阿替洛尔治疗 CHF 有效率达到89.7%。结论临床医院在常规强心药物治疗的基础上,联合应用 ACEI 和β受体阻滞剂治疗心功能Ⅱ级以上的 CHF 患者,可以明显改善患者的心脏功能,提高患者生存率。     

DNA鉴定在火灾事件中的应用

火灾在意外死亡中仅次于道路交通事故而居第二位，从发生的地点看，主要是民宅以及仓储场所，其次是人员密集场所，如：生产车间、商场、市场、宾馆、饭店、学校、医院和易燃易爆场所等，发生的时间多为夜间。绝大多数火灾是人为因素引起的，除不明原因外，多数是生活用火不慎、违反燃器安装使用规定、违章操作，以及吸烟、玩火、自燃、雷击引起的火灾和故意放火造成的。DNA鉴定方法在火灾事件中的主要是身缘鉴定的应用。     

Incidence and epidemiological characteristics of rhegmatogenous retinal detachment in Beijing, China

OBJECTIVE: To estimate the incidence and epidemiologic characteristics of rhegmatogenous retinal detachment (RRD) in Beijing, China. DESIGN: Prospective population-based incidence study. PARTICIPANTS: The population of Beijing and its nearby suburbs (N = 6 589 000). MAIN OUTCOME MEASURE: Incident RRD. RESULTS: A total of 526 patients with RRD were newly diagnosed between October 1999 and September 2000. The annual incidence was 7.98/100 000 people (95% confidence interval = 7.30-8.67). People aged 60 to 69 had the highest incidence (22.15/100 000). Incidences of 3 subtypes of RRD were 0.93/100 000 for related to blunt trauma, 0.80/100 000 for aphakic and pseudophakic, and 6.25/100 000 for nontraumatic phakic retinal detachment. A significantly higher incidence was found in males for traumatic detachment, but not for the other 2 subtypes of RRD. High myopia (> or = -6 diopters) was more prevalent in bilateral RRD (57.1%) than in the unilaterally affected patients (32.4%). CONCLUSIONS: The incidence of RRD in Beijing is comparable to most of the reports from the developed countries. It is estimated that there are 9000 to 10 000 new cases of RRD in China each year. As 60% to 70% of the RRD patients live in small towns or remote farming areas with limited access to qualified retina-vitreous surgeons, care for these patients presents a great challenge in China.     

美比欧疤痕平配合纸板加压包扎治疗增殖性瘢痕的疗效观察

目的：探讨在使用美比欧疤痕平的基础上配合使用纸板加压包扎治疗增殖性瘢痕,以观察其观察效果。方法：将美比欧疤痕平按要求涂布于瘢痕上,外加纸板,用绷带加压包扎,每天一次,边疆治疗3个月后,观察疗效。结果：14例增殖性瘢痕病例中,有9例效果明显,表现瘢痕变软变平,痒痛感觉消失。4例有效：表现瘢痕变软,症状减轻。只有1例无效。结论：美比欧疤痕平对瘢痕具有营养、滋润及活血化瘀止痒作用,通过纸板加压能减少瘢痕组织中胶原纤维合成,最后达到减少瘢痕组织的目的。     

81例车祸颅脑损伤的智力分析与评定

８１例因车祸所致颅脑损伤者的智力测验显示：受伤范围越大，程度越重，智商ＩＱ越低。左侧颅脑损伤ＶＩＱ（语言智商）＜ＰＩＱ（操作智商）右侧颅脑损伤ＰＩＱ＜ＶＩＱ，弥漫性损伤ＰＩＱ＜ＶＩＱ，这三种脑损伤类型病例ＰＩＱ有显著差异。受伤时间距智测时间越长，ＰＩＱ呈升高趋势。不同年龄，不同职业组脑损伤病例ＩＱ均数无显著差异。智力测验是交通事故颅脑外伤后伤残评定的重要依据。