角膜胶原交联术治疗圆锥角膜的疗效和安全性研究

目的：研究角膜胶原交联术治疗圆锥角膜的疗效和安全性。

方法：对2015-04/2018-08在泰国朱拉隆功国王纪念医院行角膜胶原交联术的圆锥角膜患者病历进行回顾性分析。评估术前和术后1a的视力、屈光度、角膜地形图、高阶像差(HOA)、地形图参数和角膜密度。根据患者年龄是否小于24和30岁、基线角膜最大曲率(Kmax)是否小于55 D、基线最佳矫正视力(BCVA)是否小于0.3 LogMAR分组评估年龄、基线Kmax和BCVA对手术疗效的影响。分析术前Kmax、Kmean、平均等效球镜度数(MRSE)、视力、角膜最薄点厚度值、Kmax的变化以及相关参数的变化与角膜密度测量值变化之间的关系。P<0.05具有统计学意义。

结果：共155例患者185眼纳入研究,其中119例男性,36例女性。根据Amsler-Krumeich进行分类,1期和2期占优势(分别为37.84%和35.14%)。术后1a,平均裸眼视力(UCVA)提高0.1 LogMAR(P<0.05)。与基线BCVA较好组(术前BCVA<0.3 LogMAR)相比,基线BCVA较差组(术前BCVA≥0.3 LogMAR)术后BCVA改善大于0.2 LogMAR的眼数较多(78.26% vs 21.74%,P<0.05)。平均Kmax比基线下降2.36 D(P<0.05)。术前Kmax≥55 D的患眼术后Kmax下降超过2.0 D的眼数占比73%。距角膜顶点6 mm处角膜HOA下降0.40(P<0.05)。术后1mo～1a,0～6 mm区角膜密度测量值持续增加。术后1a,角膜密度的增加与最薄点厚度的减少呈线性相关。表面变异指数、高度非对称性指数、圆锥角膜指数、高度轴偏心指数在术后1a时下降(P<0.05)。术后1a,手术成功率为90.24%。术后1wk、1、3、6mo、1a角膜混浊发生率分别为11.35%、30.27%、15.67%、10.27%、2.16%。无角膜水肿发生,但有1例无菌性角膜炎患者。

结论：角膜胶原交联术可有效治疗圆锥角膜,使角膜变平、重塑,提高视力、HOA和角膜形态指数,晚期圆锥角膜Kmax也明显降低。     

FS-LASIK与FS-LASIK联合快速角膜胶原交联术矫正高度近视术后早期屈光度及角膜高阶像差比较

目的：比较飞秒激光辅助的准分子激光原位角膜磨镶术(FS-LASIK)与FS-LASIK联合快速角膜胶原交联术(FS-LASIK Xtra)矫正高度近视术后早期屈光度及角膜高阶像差变化特点,评估两种术式矫正高度近视的早期效果。

方法：回顾性病例对照研究。纳入2019-04/2020-04在我院进行FS-LASIK Xtra及FS-LASIK的高度近视患者42例84眼,每组各21例42眼,术后随访3mo,比较两组患者术后裸眼视力(UCVA)、等效球镜(SE)、散光度及角膜高阶像差。

结果：FS-LASIK Xtra组患者术后1d UCVA(LogMAR)低于FS-LASIK组(P<0.01),其余时间点两组间比较均无差异(P>0.05)。两组患者术后SE均较术前明显降低,术后3mo,FS-LASIK Xtra组有38眼(90%)、FS-LASIK组有41眼(98%)术眼SE在±1.00D以内。两组患者术后均有35眼(83%)的术眼残余散光在0.50D以内。两组术后3mo角膜总高阶像差、球差、彗差及三叶草差均较术前增大,FS-LASIK Xtra组总高阶像差及三叶草差大于FS-LASIK组(均P<0.05)。

结论：FS-LASIK与FS-LASIK Xtra矫正高度近视在术后早期均具有较好的有效性和可预测性,术后早期角膜总高阶像差均增加,且行FS-LASIK Xtra增加更显著。     

同时性多中心尿路上皮癌克隆起源的FISH研究

目的探讨同时性多中心尿路上皮癌的克隆起源。方法通过荧光原位杂交（fluorescence in situ hybridization,FISH）技术对20例病例,49枚肿瘤的3、7、9、17号染色体的变异类型进行检测,判断肿瘤多中心灶间染色体变异类型是否一致。结果 12例多中心灶各瘤灶间CSP3、CSP7、CSP17及GLP p16变异类型完全相同;8例GLP p16改变相同而CSP3、CSP7、CSP17变异类型不完全一致,其中6例GLP p16为相同的缺失改变,2例GLP p16为相同的非缺失改变。结论 20例病例中,18例（90%）有相同克隆起源,另外2例亦不能排除为同一克隆起源可能,提示绝大多数同时性多中心尿路上皮癌为单克隆起源。     

无创产前检测技术筛查胎儿性染色体非整倍体的临床价值

目的探讨无创产前检测(NIPT)在胎儿性染色体非整倍体(SCA)筛查中的临床价值。方法选择2018年4月至2019年9月,在徐州市妇幼保健院进行NIPT筛查的7144例单胎妊娠孕妇为研究对象。采集孕妇外周血5 mL进行全基因组大规模平行测序,预测发生胎儿SCA的风险值。再对NIPT提示胎儿SCA孕妇,进一步进行羊水穿刺术产前诊断。本研究遵循的程序符合徐州市妇幼保健院伦理委员会所制定的伦理学标准,并得到批准[审批文号:〔2019〕伦审第(05号)]。本研究与受试对象均签署知情同意书。结果①7144例孕妇中,NIPT提示胎儿SCA为27例(0.4%,27/7144)。胎儿SCA的27例胎儿中,13例(48.1%,13/27)胎儿染色体核型为45,X;6例(22.2%,6/27)为47,XXX;5例(18.5%,5/27)为47,XYY;3例(11.1%,3/27)为47,XXY。②对NIPT提示胎儿SCA的27例孕妇中,21例进一步进行羊水穿刺术胎儿染色体核型分析发现,12例无异常,其余9例的结果与NIPT结果相符,SCA阳性预测值为42.8%(9/21)。胎儿染色体核型异常的9例胎儿中,3例胎儿染色体核型为47,XXX;3例为47,XYY;2例为47,XXY;1例为45,X。③由于NIPT结果异常进一步进行羊水穿刺术结果亦异常的9例胎儿45,X,47,XXX,47,XXY和47,XYY阳性预测值分别为10.0%(1/10),75.0%(3/4),67.0%(2/3)和75.0%(3/4),假阳性率分别为90.0%(9/10),25.0%(1/4),33.0%(1/3)和25.0%(1/4)。④NIPT结果显示胎儿染色体核型为47,XNN者进一步行羊水穿刺术后提示真阳性者父母中位年龄均为37岁,高于假阳性者父母(30岁)。结论NIPT在筛查胎儿SCA方面具有较好的应用价值,但是假阳性率较高,仍需进一步进行产前诊断以确诊。     

中国10个地区成年人外周血嵌合染色体变异的流行病学分布特征

目的描述外周血嵌合染色体变异(mCA)在我国10个地区30～79岁自然人群的流行病学分布特征。方法纳入中国慢性病前瞻性研究(CKB)10个项目地区中已有基线数据(人口学特征、生活方式、体格检查等)和外周血基因分型数据的100 297名研究对象, 通过嵌合染色体变异工作流计算mCA表型检出率, 采用logistic回归比较mCA检出率在不同地区、不同特征人群间的分布差异。结果共检出5 810名mCA携带者, 检出率为5.8%, 标化后检出率为5.1%。mCA检出率随基线年龄增长逐渐升高, 30～、51～、>60岁人群检出率分别为3.4%、5.0%和9.4%(趋势检验P<0.001);男性检出率(8.0%)高于女性(4.0%), 城市检出率(6.4%)高于农村(5.3%), 差异均有统计学意义(P<0.001)。调整年龄、性别和10个地区后, 当前吸烟或因病戒烟者、低体力活动水平者mCA检出率较高, 肥胖者mCA检出率(5.3%)低于正常体重者(5.9%), 差异有统计学意义(P=0.006)。结论我国10个地区30～79岁自然人群的mCA检出率存在地区和人群分布差异。相...     

Combined Alport syndrome and Klinefelter syndrome

To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9‐month‐old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria/proteinuria was identified in urinary screening at 6 months of age. Renal biopsy indicated AS, with complete deficit of the α5 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605‐2a > c) was seen in the gene encoding α5 chain of type IV collagen (COL4A5) on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history.     

Assessment of the cytotoxicity and genotoxicity properties of Uvaria chamae P. Beauv (Annonaceae) and Morinda lucida Benth (Rubiaceae) in mice

The toxicity profile of medicinal plants is an important preclinical requirement in the development of phytomedicines. The cytotoxic and genotoxic effects of the leaf of Uvaria chamae P. Beauv (Annonaceae) and stem bark of Morinda lucida Benth (Rubiaceae) were investigated in order to provide information on their safety as antimalarial plants. The methanol extract of U. chamae and ethanol (70%) extract of M. lucida were separately orally administered (125, 250, and 750?mg/kg/day) to mice for 10 consecutive days. Cyclophosphamide (50?mg/kg, single dose) and distilled water were used as positive and negative controls, respectively. The mice were injected with colchicine (0.04%) intra-peritoneally 24?h after the last administration of the extracts and the bone marrows harvested. Giemsa-stained slides of bone marrow cells were microscopically assessed for dividing cells to determine the mitotic index (MI) and scored for chromosomal aberrations (CA) according to standard methods. chamae exhibited dose-dependent cytotoxicity. At 750?mg/kg, the MI was significantly (p?M. lucida was not significantly different (p?>?0.05) from that of the negative control. The total CA observed from treatment with both plants at all doses were significantly (p?U. chamae showed both cytotoxicity and genotoxicity while M. lucida exerted only genotoxic effect. Nevertheless, the two plants should be used with caution in antimalarial therapy.     

Combinations of genotoxic tests for the evaluation of group 1 IARC carcinogens

Many of the known human carcinogens are potent genotoxins that are efficiently detected as carcinogens in human populations but certain types of compounds such as immunosuppressants, sex hormones, etc. act via non‐genotoxic mechanism. The absence of genotoxicity and the diversity of modes of action of non‐genotoxic carcinogens make predicting their carcinogenic potential extremely challenging. There is evidence that combinations of different short‐term tests provide a better and efficient prediction of human genotoxic and non‐genotoxic carcinogens. The purpose of this study is to summarize the in vivo and in vitro comet assay (CMT) results of group 1 carcinogens selected from the International Agency for Research on Cancer and to discuss the utility of the comet assay along with other genotoxic assays such as Ames, in vivo micronucleus (MN), and in vivo chromosomal aberration (CA) test. Of the 62 agents for which valid genotoxic data were available, 38 of 61 (62.3%) were Ames test positive, 42 of 60 (70%) were in vivo MN test positive and 36 of 45 (80%) were positive for the in vivo CA test. Higher sensitivity was seen in in vivo CMT (90%) and in vitro CMT (86.9%) assay. Combination of two tests has greater sensitivity than individual tests: in vivo MN + in vivo CA (88.6%); in vivo MN + in vivo CMT (92.5%); and in vivo MN + in vitro CMT (95.6%). Combinations of in vivo or in vitro CMT with other tests provided better sensitivity. In vivo CMT in combination with in vivo CA provided the highest sensitivity (96.7%).