先天性广泛眼外肌纤维化综合征一家系临床表型及基因连锁定位分析

目的 分析一个先天性广泛眼外肌纤维化综合征(CFEOM)家系的临床表型，并通过连锁分析方法来定位该家系的致病基因。方法 对家系中的所有患者进行临床检查。根据目前已知的两种常染色体显性遗传类型的CFEOM的遗传学位点12p11．2-q12(FEOM1)和16q24(FEOM3)选取微卫星进行连锁分析研究。结果 家系中4名患者具有典型的CFEOM表现。连锁分析显示，微卫星D12S59、D12S1048、D12S1648在所有患者中与疾病呈现共分离现象，其中D12S1048最大Lod值为1．91，而在微卫星D12S61和D12S1090处出现重组，表明该家系的致病基因位于这两个微卫星之间。结论此家系属常染色体显性遗传的CFEOM 1型，其致病基因定位于12p11．2-q12的D12S61和D12S1090之间。     

先天性白内障手术中预防后发障的方法

目的　探讨小儿先天性白内障手术中预防后发障的方法。方法　对 46例 ( 4 6眼 )先天性白内障 ,以白内障超声乳化仪的注吸I/A系统吸净晶状体植入人工晶状体后 ,进行后囊连续环形撕囊及前段玻璃体切除联合手术 (A组 ) ,同期施行的3 2例 ( 3 2眼 )先天性白内障 ,以同样的方法行白内障摘出人工晶状体植入后 ,进行单纯后囊连续环形撕囊术 ,不做前段玻璃体切除 ,作为对照组 (B组 )。术后随访 2年以上。结果　后发障发生的情况 ,A组 2眼 ( 4 4% ) ,B组 7眼 ( 2 1 9% ) ,两组对比差异具有显著性意义 (P <0 0 5 )。两组均未发现眼底并发症。结论　先天性白内障术中行后囊连续环形撕囊联合前段玻璃体切除术 ,是预防后发性白内障的有效方法。     

三联术治疗先天性睑裂狭小综合征

目的探讨先天性睑裂狭小综合征的手术方法。方法13例行内眦成形、外眦成形和上睑下垂矫正三联手术。结果术后全部13例(26眼)睑裂宽度≥6mm，重睑线美观自然，眼睑闭合良好。结论三联术治疗先天性睑裂狭小综合征术式简便，效果确切。     

当归六黄汤加减对32例混合痔术后盗汗患者临床疗效观察

[目的]探讨当归六黄汤加减对混合痔术后盗汗的疗效。[方法]对32例混合痔术后盗汗患者采用当归六黄汤加减。[结果]治愈11例(占34·4%),显效16例(占50·0%),有效5例(占16·6%)。[结论]当归六黄汤能有效治疗混合痔术后盗汗。     

卟啉及其类似物在HPLC固定相中的应用

介绍了卟啉及其类似物衍生固定相的特征和制法,综述了这类固定相在HPLC中的应用和分离机制.     

伴有面转代偿头位的先天性下直肌麻痹临床特征与手术治疗

目的：描述伴有面转代偿头位的先天性单纯下直肌麻痹患者的临床表现,并分析其手术治疗效果。

方法：回顾性分析2014-05/2018-07伴有明显面转代偿头位的先天性下直肌麻痹患者,手术前后患者面转程度的变化借助骨科量角器来检查,垂直、水平斜视度变化通过三棱镜交替遮盖试验来测量,旋转斜视度变化通过眼底对眼球客观旋转状态评估。下直肌缩短术是主要治疗方案。

结果：在15例研究对象中,有13例行下直肌缩短术或者联合上直肌后徙术术后疗效好,下直肌运动不足明显改善,眼球运动协调,以面转为主的代偿头位消失,垂直、水平、旋转斜视得到矫正; 并得出：每缩短1 mm下直肌可矫正1.54±0.93°内旋斜视。而行下斜肌断腱术治疗的垂直斜视度小的患者,面转改善不理想,仍遗留眼球运动不协调。

结论：先天性单纯的下直肌麻痹以面转代偿头位为主,下直肌缩短术治疗效果好,轻度的过矫及欠矫不影响手术疗效。     

先天性无虹膜合并先天性白内障家系致病基因突变分析

目的：对先天性无虹膜合并先天性白内障家系进行PAX6基因突变位点筛查,丰富该致病基因的突变谱。

方法：选取就诊于北京同仁医院眼科门诊的1个先天性无虹膜合并先天性白内障家系和100名健康志愿者,采集外周静脉血,提取基因组DNA,采用直接测序法进行PAX6基因突变位点的筛查。

结果：该家系中先证者和其他患者均表现为无虹膜合并白内障,PAX6基因测序结果显示,该致病基因第11外显子无义突变c.991 C>T,造成PAX6基因编码的蛋白截短(R331X),从而使该蛋白失去功能,且该突变在家系内与疾病表型共分离,不存在于家系内及家系外健康样本的基因中。

结论：PAX6 R331X突变与先天性无虹膜合并先天性白内障的发生有关。     

Visual impairment and refractive errors in school children in Andhra Pradesh,India

Purpose:Addressing childhood vision impairment (VI) is one of the main goals of the World Health Organization’s (WHO) combating blindness strategies. The primary aim of this study was to estimate the prevalence of VI, causes, and its risk factors in school children in Krishna district, Andhra Pradesh, India.Methods:Children aged 4–15 years were screened in schools using the 6/12 Snellen optotype by trained community eye health workers, and those who failed the test and those reported or found to have obvious eye conditions were referred to primary (VC), secondary (SC), or tertiary (TC) care centre appropriately, where they underwent a complete eye examination including cycloplegic refraction and fundus examination.Results:A total of 56,988 children were screened, of whom 51.18% were boys. The mean age was 9.69 ± 3.26 years (4–15 years). Overall, 2,802/56,988 (4.92%) children were referred to a VC, of which 632/56,988 (1.11%) required referral to SC/TC. PVA of <6/12 was found in 1.72% (95% confidence interval [CI]: 1.61–1.83). The prevalence of refractive error (corrected and uncorrected) was 2.38% (95% CI: 2.26–2.51) and myopia was 2.17% (95% CI: 2.05–2.29). In multivariable analysis, older children, those in urban schools, private schools, and children with a disability had an increased risk of VI and myopia. Additionally, the risk of myopia was higher among girls than boys. Of those referred and reached SC/TC, 73.64% were due to avoidable causes.Conclusion:Childhood VI prevalence was 1.72% in this region. Uncorrected refractive error (URE) was the major cause of VI in children. Older age, schools in urban locations, private schools, and the presence of disability were associated with the risk of VI among children.     

夜间营养护理对肝衰竭病人营养状况的影响

目的:探讨肝衰竭病人营养支持中实施夜间营养护理干预的效果。方法:选取2019年3月—2020年7月在我院治疗的82例肝衰竭病人为研究对象,通过随机数字表法分为日间组(41例)及夜间组(41例)。日间组在内科综合治疗基础上给予日间营养干预,夜间组在日间组的基础上加强夜间营养护理。比较两组相关营养指标、Child-Pugh评分、营养风险筛查表2002(NRS-2002)评分、生活质量变化情况。结果:经夜间营养护理干预后,夜间组血清总蛋白(TP)、白蛋白(ALB)、转铁蛋白(TF)、前白蛋白(PA)水平高于日间组,差异均有统计学意义(P<0.001);干预2周、4周后夜间组Child-Pugh评分均低于日间组,NRS-2002评分明显低于日间组,差异均有统计学意义(P<0.001);夜间组营养护理干预4周后生活质量GQOL-74量表评分高于日间组,差异有统计学意义(P<0.001)。结论:肝衰竭病人住院期间加强实施夜间营养护理干预,可明显改善病人营养状况,降低营养不良发生风险,改善病人生活质量。     

Clinical patterns of congenital ocular anomalies in the pediatric age group (0 to 5 years) and its association with various demographic parameters

Purpose:Congenital ocular anomalies are rare but important cause of childhood blindness. This study aimed to observe the clinical patterns of congenital ocular anomalies in the pediatric age group (0 to 5 years) and its association with various demographic parameters.Methods:Hospital-based cross-sectional study done on all pediatric patients in the 0-to-5-year age group presenting with congenital ocular anomalies to the Ophthalmology department of a tertiary care hospital in Eastern India between October 2018 and October 2020. Thorough clinical history was obtained, and comprehensive ocular examination was done in each case.Results:A total of 5686 patients in the 0 to 5 years age group attended the eye OPD during the study period. Congenital ocular anomalies were seen in 140 patients. The prevalence of ocular anomalies was 2.46%. Average age of patients was 3.32 ± 1.42 years. There were 74 (52.9%) males and 66 (47.1%) females. Unilateral and bilateral involvement was seen in 100 (71.45%) and 40 (28.6%) cases, respectively. Antenatal period was uneventful in 92.14% cases. Decreased vision was the most common presentation (40%). Congenital nasolacrimal duct obstruction was the most common anomaly seen in 29 (20.71%) cases followed by congenital cataract in 21 (15%) cases.Conclusion:Few of the congenital ocular anomalies can be prevented by increasing community awareness. Findings of the study can act as a reference guide for clinicians and health professionals for counseling and health planning.