康柏西普预防严重后巩膜裂伤玻璃体切除术后增生性玻璃体视网膜病变的临床疗效

摘要 目的：探讨玻璃体腔注射康柏西普对于严重后巩膜裂伤患者玻璃体切除术后增生性玻璃体视网膜病变发生的预防效果。方法：选取从2018年9月至2020年9月我院收治的40例（40眼）严重后巩膜裂伤患者进行研究,随机分为对照组20眼（行常规巩膜裂伤缝合术及经睫状体平坦部玻璃体切除术）和观察组20眼（行巩膜裂伤缝合术及经睫状体平坦部玻璃体切除术的同时联合玻璃体腔注射康柏西普治疗）。比较两组患者术前及术后的视力、眼压,以及术后增生性玻璃体视网膜病变的发生率、视网膜再脱离的发生率。结果：对照组及观察组术后的最佳矫正视力较术前均提高、术后眼压均正常,观察组术后的增生性玻璃体视网膜病变发生率（15.0 %）明显低于对照组（45.0 %, P<0.05）,观察组术后视网膜脱离复发率（5.0 %）低于对照组（30.0 %, P>0.05）。结论：严重后巩膜裂伤患者玻璃体切除术联合玻璃体注射康柏西普治疗能够有效降低增生性玻璃体视网膜病变的发生率和术后视网膜脱离的复发率,还可以改善患者的视力预后。     

白内障超声乳化联合人工晶状体植入术后感染性眼内炎的影响因素及其预测模型构建

摘要 目的：探讨白内障超声乳化联合人工晶状体植入术后感染性眼内炎的影响因素及其预测模型构建。方法：回顾性分析2015年2月至2023年2月我院收治的12308例白内障患者的临床资料,所有患者均行白内障超声乳化联合人工晶状体植入手术治疗,统计术后感染性眼内炎发生情况。采用多因素Logistic回归模型分析白内障超声乳化联合人工晶状体植入术后感染性眼内炎的影响因素,根据回归模型构建预测模型,采用受试者工作特征（ROC）曲线验证预测模型的预测效能。结果：12308例患者中发生感染性眼内炎32例（0.26%）。单因素分析结果显示感染组年龄≥70岁、合并糖尿病、手术时间≥30 min、手术切口≥3.2 mm、植入PMMA人工晶体、后囊膜破裂比例高于对照组（P＜0.05）,术中预防性使用抗生素、晶状体后冲洗比例低于对照组（P＜0.05）。多因素Logistic回归模型分析显示年龄≥70岁、合并糖尿病、后囊膜破裂、植入PMMA人工晶体是白内障超声乳化联合人工晶体植入术后感染性眼内炎的危险因素（P＜0.05）,术中预防性使用抗生素、晶状体后冲洗是保护因素（P＜0.05）。以Logistic回归模型结果保留变量构建预测模型,Hosmer-Lemeshow拟合优度检验P＞0.05。ROC分析该模型预测白内障超声乳化联合人工晶体植入术后感染性眼内炎的曲线下面积为0.832,灵敏度、特异度分别为81.25%、85.12%。结论：年龄≥70岁、合并糖尿病、后囊膜破裂、植入PMMA人工晶状体是术后感染性眼内炎的危险因素,术中预防性使用抗生素、晶状体后冲洗可降低感染性眼内炎发病风险。根据多因素Logistic回归分析构建的预测模型对感染性眼内炎的预测能效较好。     

超声乳化吸除联合人工晶体植入术治疗白内障的疗效及术后前房渗出的影响因素分析

摘要 目的：观察超声乳化吸除（PE）联合人工晶体植入术（IOL）治疗白内障的疗效,并分析术后前房渗出的影响因素。方法：回顾性分析我院2018年1月~2021年2月收治的行PE联合IOL治疗的白内障患者406例（482眼）的临床资料,观察其视力变化情况及术后并发症发生情况。通过单因素及多因素Logistic回归分析术后前房渗出的影响因素。结果：白内障患者术后视力0.6~0.9、≥1.0眼数占比高于术前（P<0.05）。白内障患者术后发生并发症46眼,分别为晶状体色素沉着、后囊浑浊、角膜水肿各3眼,纤维性渗出膜2眼,术后前房渗出35眼,并发症发生率为9.54%（46/482）。单因素分析结果显示：PE联合IOL术后前房渗出与高血压病史、高度近视、合并青光眼、术前眼内压＞21 mmHg、术中晶状体后囊膜破裂、葡萄膜炎、术中瞳孔直径<3 mm、晶状体核分级≥IV级有关（P<0.05）。多因素Logistic回归分析结果显示：术前眼内压＞21 mmHg、合并青光眼、高度近视、术中晶状体后囊膜破裂、葡萄膜炎、晶状体核分级≥IV级是术后前房渗出的影响因素（P<0.05）。结论：PE联合IOL治疗白内障,疗效较好,可有效改善患者视力,且并发症发生率较低。患者术后前房渗出受多种因素影响,临床工作中应根据相关因素制定干预、治疗措施以降低术后前房渗出风险。     

微创旋切术用于老年乳腺良性肿块患者对手术指标、应激反应和免疫功能的影响

摘要 目的：对比分析微创旋切术和传统开放手术对老年乳腺良性肿块患者手术指标、应激反应、免疫功能的影响及安全性。方法：收集我院2015年4月~2019年2月因乳腺良性肿块需手术治疗的老年患者148例,按不同手术方式分为观察组和对照组,每组74例。观察组予以微创旋切术,对照组予以传统开放手术,比较两组手术指标,手术前后应激反应、免疫功能,术后乳房美观性和并发症的发生情况。结果：观察组切口长度、手术时间、出血量、住院时间和术后疼痛评分分别为(2.35±1.45)cm、(18.27±4.51)min、(5.07±1.02)mL、(4.98±1.20)d和(2.88±1.13)分,均低于或短于对照组(P<0.05);术后血清去甲肾上腺素(NE)、肾上腺素(E)和皮质醇(Cor)水平分别为(71.03±3.02)ng/mL、(68.22±7.23)ng/mL和(101.82±13.29)mmol/L,均明显低于对照组(P<0.05);手术后免疫功能中CD4⁺、CD3⁺和CD4⁺/CD8⁺分别为(27.27±3.70)%、(44.87±6.13)%和(1.22±0.07),均显著高于对照组(P<0.05);术后乳房美观性优良率为98.6%,明显高于对照组(P<0.05),总并发症发生率为2.7%,显著低于对照组(P<0.05)。结论：与传统开放手术相比,微创旋切术用于老年乳腺良性肿块患者的效果较好,手术时间短,出血少,患者术后疼痛较轻,住院时间短,可有效保护患者的免疫功能,降低应激反应,安全性高。     

输尿管软镜与超微通道经皮肾镜碎石术治疗直径<2cm肾结石的对照分析研究

摘要 目的：对比分析输尿管软镜碎石术与超微通道经皮肾镜碎石术治疗直径<2 cm的肾结石的临床应用效果。方法：选取2017年7月～2019年11月间直径<2 cm肾结石患者200例作为研究对象,随机选择其中的100例患者采用输尿管软镜钬激光碎石术进行治疗(FURS组),另外的100例患者采用超微通道经皮肾镜钬激光碎石术进行治疗(UMP组),比较观察两组患者的手术相关指标,其中包括手术时间、术中出血量、清石率,以及患者术后下床活动时间、术后住院天数等指标的差异,同时记录两组患者术后并发症的情况。结果：两组手术均成功完成,未出现严重出血及邻近器官损伤等并发症,在清石率方面,两组均有较高水平,无统计学差异（98% vs 97%,P＞0.05）;在手术并发症发生率方面,差异无统计学意义 (7% vs 8%,P＞0.05);术中血红蛋白下降水平FURS组少于UMP组（6.82±2.27 vs 16.75±4.92,P＜0.01）;FURS组较UMP组术后下床活动时间（7.53±2.24 vs 15.46±2.61,P＜0.01）以及住院天数（3.46±1.69 vs 6.15±1.27,P<0.01）更少,差异有统计学意义。结论：输尿管软镜钬激光碎石术与微通道经皮肾镜钬激光碎石术都可以成为直径<2 cm肾结石的有效治疗方法,但输尿管软镜钬激光碎石术的患者术中出血少,住院时间短,更为安全,疗效确切,更加具有微创优势,值得优先考虑。     

儿童先天性白内障发病的影响因素分析及人工晶状体植入术后屈光状态的变化研究

摘要 目的：探讨儿童先天性白内障发病的影响因素,并研究人工晶状体植入（IOL）术后屈光状态的变化。方法：选择2017年4月~2019年2月期间我院收治的先天性白内障患儿98例作为病例组,选取同期来我院小儿眼科体检的健康儿童80例作为对照组。采用单因素和多因素Logistic回归分析先天性白内障发病的影响因素。病例组患儿均进行先天性白内障摘除联合IOL植入术。术后病例组患儿均随访3年,比较术后1、2、3年屈光度、眼轴长度的变化量。结果：单因素分析结果显示,先天性白内障发病与性别、孕期先兆流产、并发妊娠期高血压、并发妊娠期糖尿病、并发甲亢或甲减、贫血无关（P>0.05）。先天性白内障发病与胎龄、出生体重、先天性白内障家族史、孕前2个月或孕期是否存在感染、缺血缺氧脑病有关（P<0.05）。多因素Logistic回归分析结果显示,胎龄<37周、出生体重<2500 g、有先天性白内障家族史、孕前2个月或孕期存在感染是导致先天性白内障发病的危险因素（P<0.05）。同一时间点比较,＜2岁组术后眼轴长度增长量、屈光度变化大于2~6岁组和7~12岁组,且2~6岁组大于7~12岁组（P<0.05）。结论：胎龄<37周、出生体重<2500 g、有先天性白内障家族史、孕前2个月或孕期存在感染是导致先天性白内障发病的危险因素,此外,先天性白内障患儿接受IOL治疗后,IOL对患儿眼球发育影响较为轻微。     

不同角膜表面处理方式在全飞秒SMILE手术中的应用效果分析

摘要 目的：探讨不同角膜表面处理方式在全飞秒SMILE手术中的应用效果。方法：选择2021年10月至2022年9月来我院择期行全飞秒SMILE手术的患者50例,根据先右后左手术原则,观察眼与对照眼没有固定左右眼,观察眼25例选择右眼,25例选择左眼,对照眼反之选择另一眼,观察眼使用开睑器开睑后用三角海绵擦拭清洁角膜表。对照眼眼自净（眨眼）后使用开睑器开眼睑。对比观察眼与对照眼的角膜光密度、角膜表面颗粒物质计数、角膜表面湿度、术中负压吸引完成时间、失吸比例、OBL发生率,分析50例患者的舒适度。结果：观察眼的角膜光密度为16.33±2.12,对照组为16.85±2.58,组间对比无统计学意义（t=-1.101,P=0.274）。对照眼的表面颗粒物质计数明显较观察眼低,角膜表面湿度明显较观察眼高（P<0.05）。对照眼与观察组术中负压吸引完成时间、失吸比例对比无统计学意义（P>0.05）。观察眼中OBL发生率为6.00 %,对照眼中OBL发生率为2.00 %,组间对比无统计学意义（P=0.617>0.05）。50例患者中对三角海绵擦拭角膜感觉恐惧者占比32.00%（16/50）,三角海绵擦拭角膜后对注视绿点存在影响者占比20.00 %（10/50）,手术中选择三角海绵擦拭角膜者20例,占比40.00 %（20/50）,选择眼自净（眨眼）者30例,占比60.00 %（30/50）。结论：眼自净（眨眼）可以代替三角海绵擦拭角膜,用于全飞秒SMILE手术,提高患者舒适度。     

神经外科颅脑手术患者发生术后颅内感染的危险因素及应用中医外科"托法"效果分析

摘要 目的：探讨神经外科颅脑手术患者术后发生颅内感染的危险因素，并研究中医外科"托法"辅助治疗颅内感染的临床疗效。方法：回顾性分析2017年1月到2022年12月在我院神经外科进行颅脑手术的260例患者临床资料，分析影响患者发生术后颅内感染的影响因素。发生术后发生颅内感染的患者在常规抗感染治疗的基础上加用中医"托法"治疗，分析其临床治疗疗效、抗感染治疗后脑脊液白细胞计数、蛋白含量和中性粒细胞，以及血清白介素-8（IL-8），超敏c反应蛋白（hs-CRP）和降钙素（PCT）。结果：260例神经外科颅脑手术患者，术后出现颅内感染的患者有21例，术后颅内感染发生率为8.08%。多因素Logistic回归分析显示：手术时间、脑脊液分流术、脑室外引流以及脑脊液漏是影响神经外科颅脑手术患者术后是否发生颅内感染的独立影响因素。经中医外科"托法"辅助抗感染治疗后，21例术后颅内感染患者脑脊液白细胞计数、蛋白含量和中性粒细胞均较治疗前显著降低（P<0.05），并且血清IL-8、hs-CRP和 PCT均较治疗前降低（P<0.05）。21例术后颅内感染患者治疗总有效率、抗感染治疗时间和总费用分别为90.48%、（11.43±1.57）天和（7571.68±2541.29）元。结论：手术时间、脑脊液分流术、脑室外引流以及脑脊液漏是影响神经外科颅脑手术患者术后是否发生颅内感染的独立影响因素，中医外科"托法"可用于术后颅内感染患者抗感染治疗。     

血清PG、LGR4与胃癌患者腹腔镜D2根治术预后相关性分析

摘要 目的：探讨与分析血清胃蛋白酶原（PG）、多富含亮氨酸重复单位的G蛋白偶联受体4（LGR4）与胃癌患者腹腔镜D2根治术（LD2RS）预后相关性。方法：2021年1月到2021年12月选择在本院进行诊治的胃癌患者210例作为胃癌组,同期选择在本院进行体检的健康者210例作为对照组。检测两组人群的血清血清PG、LGR4含量,调查患者预后并进行相关性分析。结果：胃癌组的血清PGⅠ含量低于对照组,血清LGR4、PG Ⅱ含量高于对照组（P<0.05）。平均手术时间154.98±19.43 min;平均术中出血量148.62±15.83 mL;平均术后肠功能恢复时间2.51±0.29 d;平均术后肛门排气时间2.79±0.16 d;平均术后下床活动时间2.33±0.15 d;平均术后住院时间9.28±0.29 d。术后14 d发生并发症24例,占比11.4 %。胃癌组所有患者随访至今,平均随访时间为17.38±2.15个月,预后发生转移23例,占比11.0 %;复发14例,占比6.7 %。Spearsman分析显示胃癌患者预后转移、复发与血清PGⅠ、PGⅡ、LGR4含量存在相关性（P<0.05）。多因素logistic回归显示血清PGⅠ、PGⅡ、LGR4为导致患者预后复发、转移的重要因素（P<0.05）。结论：腹腔镜D2根治术治疗胃癌具有很好的安全性与微创性,但是预后复发率与转移率依然比较高,血清PG、LGR4与胃癌患者腹腔镜D2根治术预后存在相关性,也是导致预后复发与转移的重要因素。     

子宫切除术后患者生活质量的变化及家庭关怀度的影响因素分析

摘要 目的：探讨子宫切除术后患者生活质量的变化及家庭关怀度的影响因素。方法：选取2017年1月~2020年1月期间在我院行子宫切除术的158例患者为研究对象,采用生活质量评价量表（SF-36）、家庭关怀度指数问卷（APGAR）对子宫切除术后患者的生活质量、家庭关怀度进行评估。根据患者的APGAR评分分为家庭功能良好组（123例）和家庭功能障碍组（35例）,采用多因素Logistic回归分析子宫切除术后患者家庭关怀度的影响因素。结果：158例子宫切除术后患者的SF-36中得分最高的维度为生理功能（PF）（88.97±9.28）分,最低为心理健康（MH）（62.39±7.93）分,而术前评分中最高为PF（90.89±8.97）分,最低为MH（74.83±8.87）分,术后患者的MH评分有显著下降（P<0.05）。158例患者APGAR总得分为（7.37±2.32）分,其中家庭功能良好（7~10分）患者123例、中度障碍（4~6分）28例、重度障碍（0~3分）7例。经单因素分析显示：两组患者年龄、手术切除方式、原发疾病类型、居住地、文化程度对比无统计学差异（P>0.05）,而两组在切除时长、家庭年收入、婚姻状况、家庭关系方面对比有统计学差异（P<0.05）。经多因素Logistic回归分析显示：切除时长、婚姻状况、家庭关系及家庭年收入均是子宫切除术后患者家庭关怀度的影响因素。结论：子宫切除术后患者生活质量及家庭关怀度均处于中等水平。其家庭关怀度受多种因素的影响,临床中应结合患者实际情况和其可能存在的相关因素进行适当干预,以减少家庭功能障碍的发生风险。     

A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis

Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment. We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance. We map the ectopia lentis locus in this family to the pericentromeric region on chromosome 1 (1p13.2-q21.1). The linkage region contains well more than 60 genes. Mutation screening of four candidate genes revealed a homozygous nonsense mutation in exon 11 of ADAMTSL4 (p.Y595X; c.1785T→G) in all affected individuals that is absent in 380 control chromosomes. The mutation would result in a truncated protein of half the original length, if the mRNA escapes nonsense-mediated decay. We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers.     

透明角膜切口白内障术后角膜曲率的临床观察*

目的:观察年龄相关性白内障行透明角膜切口超声乳化吸除及人工晶体植入术后角膜曲率的变化及相对稳定的时间。方法:收集2016年6月-8月在哈尔滨医科大学附属第一医院伍连德纪念医院进行的3.0 mm透明角膜切口白内障超声乳化吸除及人工晶体植入术的患者200例216眼,其中男88例、女128例,平均年龄71.2岁,进行相应的术前检查,并检查术前、术后第一天、一周、一个月、和三个月时的角膜曲率、视力、眼压并行相应的统计学分析。结果:术后不同时间点视力0.5的恢复情况:第一天为147眼(68.05%)、一周为175眼(81.02%)、一个月为193眼(89.35%)、三个月为197眼(91.20%);术前角膜曲率为43.94±1.35、术后第一天、术后一周的角膜曲率分别为44.98±1.06、44.45±1.18,与术前相比有显著性差异(p0.05),术后一个月、三个月的角膜曲率分别为44.13±1.27、44.02±1.24,与术前相比无显著性差异(p0.05);术源性散光于术后一天达到最大,随后逐渐减小,术后一个月、三个月与术后一天比较有显著性差异(p0.05),术后三个月与一个月比较无显著性差异(p0.05),术源性散光术后逐渐下降,并于一个月时趋于稳定。结论:3.0 mm透明角膜切口白内障超声乳化吸除及人工晶体植入术患者在术后一个月的角膜曲率基本稳定,恢复至术前状态,屈光状态趋于稳定,术源性角膜散光较小,术后视力恢复至较好状态。     

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable age at onset and the wide range of severity of aortic features. The factors that modulate phenotypical severity, both among and within families, remain to be determined. The availability of international FBN1 mutation Universal Mutation Database (UMD-FBN1) has allowed us to perform the largest collaborative study ever reported, to investigate the correlation between the FBN1 genotype and the nature and severity of the clinical phenotype. A range of qualitative and quantitative clinical parameters (skeletal, cardiovascular, ophthalmologic, skin, pulmonary, and dural) was compared for different classes of mutation (types and locations) in 1,013 probands with a pathogenic FBN1 mutation. A higher probability of ectopia lentis was found for patients with a missense mutation substituting or producing a cysteine, when compared with other missense mutations. Patients with an FBN1 premature termination codon had a more severe skeletal and skin phenotype than did patients with an inframe mutation. Mutations in exons 24-32 were associated with a more severe and complete phenotype, including younger age at diagnosis of type I fibrillinopathy and higher probability of developing ectopia lentis, ascending aortic dilatation, aortic surgery, mitral valve abnormalities, scoliosis, and shorter survival; the majority of these results were replicated even when cases of neonatal MFS were excluded. These correlations, found between different mutation types and clinical manifestations, might be explained by different underlying genetic mechanisms (dominant negative versus haploinsufficiency) and by consideration of the two main physiological functions of fibrillin-1 (structural versus mediator of TGF beta signalling). Exon 24-32 mutations define a high-risk group for cardiac manifestations associated with severe prognosis at all ages.     

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

The Marfan syndrome, an autosomal dominant heritable disorder of connective tissue, is caused by mutations in the gene for fibrillin-1, FBN1. A novel FBN1 mutation was identified using temperature-gradient gel electrophoresis of a reverse-transcribed polymerase chain reaction product spanning exons 14 to 16. The mutation, G1760A, is predicted to result in the amino acid substitution C587Y and thus to disrupt one of the disulfide bonds of the calcium-binding epidermal growth factor-like module encoded by exon 14. C587Y was found to be a de novo mutation in a relatively mildly affected 15-year-old girl whose clinical phenotype was characterized mainly by ectopia lentis and thoracic scoliosis. Metabolic labeling of cultured dermal fibroblasts from the affected patient demonstrated delayed secretion of fibrillin with normal synthesis and no decrease in incorporation into the extracellular matrix compartment. Fibrillin immunostaining of confluent dermal fibroblast cultures revealed no visible difference between the patient’s cells and control cells. Characterization of many different FBN1 mutations from different regions of the gene may provide a better understanding of clinical and biochemical genotype-phenotype relationships. Received: 31 October 1996 / Accepted: 3 March 1997     

Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

Marfan syndrome is an autosomal dominant disease caused by mutations in the gene encoding for fibrillin-1 (FBN1). More than 1,000 FBN1 mutations have been identified, which may lead to multiple organ involvement, particularly of the ocular, skeletal, and cardiovascular systems. Mutations in exons 59–65 have been reported in the past to cause mild Marfan-like fibrillinopathies. We report a family with a mutation in exon 63 that manifests with significant cardiovascular system involvement such as aortic root dilatations, dissection of the aorta, and sudden death at a young age. Genetic analysis revealed that four related individuals are positive for a novel heterozygous Cys2633Arg mutation in exon 63. Their genotype–phenotype profile (based on the revised Ghent nosology) is described. We postulate that the Cys2633Arg mutation may manifest with significant and progressive enlargement of the aortic root, risk of aortic dissections, and minor skeletal abnormalities, without involving the ocular system (i.e., ectopia lentis).     

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease

Marfan syndrome(MFS) is a systemic connective tissue disease principally affecting the ocular, skeletal and cardiovascular systems. This autosomal dominant disorder carries a prevalence of 1:3,000 to 1:5,000. This study aims to define the mutational spectrum of MFS related genes in Chinese patients and to establish genotype-phenotype correlations in MFS. Panel-based targeted next-generation sequencing was used to analyze the FBN1, TGFBR1 and TGFBR2 genes in 123 unrelated Chinese individuals with MFS or a related disease. Genotype-phenotype correlation analyses were performed in mutation-positive patients. The results showed that 97 cases/families(78.9%; 97/123) harbor at least one(likely) pathogenic mutation, most of which were in FBN1; four patients had TGFBR1/2 mutations; and one patient harbored a SMAD3 mutation. Three patients had two FBN1 mutations, and all patients showed classical MFS phenotypes. Patients with a dominant negative-FBN1 mutation had a higher prevalence of ectopia lentis(EL). Patients carrying a haploinsufficiency-FBN1 mutation tended to have aortic dissection without EL. This study extends the spectrum of genetic backgrounds of MFS and enriches our knowledge of genotype-phenotype correlations.     

老年白内障患者超声乳化联合人工晶状体植入术1210例临床研究

目的：观察老年白内障患者超声乳化联合人工晶体植入术后的治疗效果,探讨白内障超声乳化人工晶状体植入术术中术后并发症及相应处理措施。方法：对1210例1325眼老年白内障超声乳化人工晶状体植入术患者的临床病例资料进行回顾性分析,统计术后疗效并分析术中术后并发症的原因。结果：1325眼术后视力均有不同程度的提高,发生术中晶状体碎核入玻璃体腔1眼,术后并发症主要为一过性高眼压、角膜水肿、晶状体后囊破裂及视网膜脱落,发生率分别为1．36％、7．47％、0．03％和0．02％。结论：超声乳化联合人工晶体植入术对老年白内障患者治疗效果满意。对于术中及术后发生的各种并发症应分析原因并积极的预防。     

The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus

Mutations in the fibrillin-1 (FBN1) gene have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders. In this study, two Chinese families were recruited. The patients in family 1 were well characterized with MFS, while those in family 2 displayed Marfan-like disorders such as ectopia lentis (EL) and marfanoid habitus, but did not develop cardiovascular diseases. We aimed to analyze the pathogenic mutations and their relationships with phenotypes in these two Chinese families. All participants underwent complete physical, ophthalmic, and cardiovascular examinations. The 65 exons and flanking intronic sequences of FBN1 were amplified by polymerase chain reaction, and screened for mutations by denaturing high-performance liquid chromatography and sequencing. One hundred and fifteen unrelated controls were analyzed using the same methods to confirm the mutations. In family 1, we identified the mutation p.C499S in the calcium-binding epidermal growth factor (cbEGF)-like domain 3 of FBN1. In family 2, the mutation p.C908Y was identified in an interdomain region of the hybrid motif 2 linked to the cbEGF-like domain 10. It can be concluded that FBN1 mutations involving cysteine substitutions are usually associated with MFS and EL with some MFS features. Moreover, pathology seemed more serious when the mutations disrupted the three disulfide bridges in the cbEGF-like domains, which was more likely to cause typical MFS than if the mutations occurred in the hybrid motifs. Our data preliminarily establish a genotype-phenotype correlation in the diagnostic process of MFS and predominant EL with Marfan-like features.     

超声乳化联合不同术式对青光眼合并白内障患者视力、血流动力学及生活质量的影响

目的:探讨超声乳化联合不同术式对青光眼合并白内障患者视力、血流动力学及生活质量的影响。方法:回顾性分析2015年1月～2019年8月期间我院收治的青光眼合并白内障患者56例(66眼)的临床资料,根据手术方式的不同分为A组(n=27,超声乳化联合小梁切除术)和B组(n=29,超声乳化联合房角分离手术),比较两组患者视力、眼压、血流动力学及生活质量情况,统计两组并发症发生情况。结果:两组术后1个月、术后3个月、术后6个月视功能指数量表(VF-14)评分呈升高趋势,且B组高于A组(P0.05)。两组患者术后1个月、3个月、6个月视力呈先升高后降低,且术后1个月、3个月、6个月均高于术前(P0.05),B组术后3个月、术后6个月视力均高于A组(P0.05);两组患者术后1个月～术后6个月眼压均呈不断下降趋势,且B组低于A组(P0.05)。两组术后6个月舒张末期流速(EDV)、收缩期峰值流速(PSV)均升高,且B组高于A组(P0.05);阻力指数(RI)均降低,且B组低于A组(P0.05)。两组并发症发生率比较差异无统计学意义(P0.05)。结论:与超声乳化联合小梁切除术相比,超声乳化联合房角分离手术治疗青光眼合并白内障患者,在改善患者视力、眼压、血流动力学及生活质量方面效果较佳,且不增加并发症发生率。     

ICL植入术矫正高度近视的短期临床观察

目的:观察后房型有晶体眼人工晶体(implantable contact lens,ICL)植入术矫正高度近视术后早期的有效性和安全性。方法:选择于我院行ICL植入术的高度近视患者18例(36眼),于术前及术后1周、1个月、3个月随访记录其裸眼视力(uncorrected visual acuity,UCVA),最佳矫正视力(best corrected visual acuity,BCVA),等效球镜(spherical equivalent,SE),前房深度(anterior chamber depth,ACD),眼内压(intraocular pressure,IOP),角膜内皮细胞密度(endothelial cell density,ECD)的变化。结果:所有患者术后3个月裸眼视力和有效球镜度均较术前显著提高(P0.05),前房深度较术前变浅(P0.05),眼内压与术前对比无明显差异(P0.05),角膜内皮细胞密度较术前显著减少(P0.05)。结论:ICL植入手术矫正高度近视的短期临床疗效和安全性均较好。