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101.
Filomena Napolitano Valentina Di Iorio Giuseppe Di Iorio Mariarosa Anna Beatrice Melone Fernando Gianfrancesco Francesca Simonelli 《Ophthalmic genetics》2019,40(1):39-42
Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene. Results of investigation on vitreous changes and their pathogenesis are reported in the present study.Materials and Methods: Nineteen family individuals underwent complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus examination, fundus photography, intraocular pressure measurement, axial length measurement using ocular biometry, Goldmann visual field examination, standard electroretinogram, SD-OCT. Segregation analysis of LAMA5 and P4HA2 mutations was performed in enrolled members.Results: The vitreous alterations fully segregated with LAMA5 mutation in both young and adult family members. Slight reduction of retinal thickness and peripheral retinal degeneration in only two patients were reported.Conclusions: In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD. 相似文献
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Objective: To observe the clinical effect of modified akupotomye closed lysis under CT guidance on compression of posterior lumbar nerve branch.Methods: Patients were diagnosed by HRCT 3-D reconstruction combined with clinical symptoms and signs.After HRCT three-dimensional reconstruction combined with clinical symptoms and signs, the patients were confirmed as posterior lumbar nerve compression.After CT accurate surface positioning, CT-guided modified akupotomye was used for closed lysis of the posterior lumbar nerve branch.Oswestry Dysfunction Index Questionnaire(ODI) was used for quantitative scoring, 7 days before and after treatment and 6 months after treatment.Results: In 62 cases, 20 cases were cured, with 25 cases markedly effective, 11 cases effective, and 36 cases ineffective.The total effective rate was 90.3%.ODI score: Self-paired t test 7 days before after treatment, P < 0.01;Before treatment and 6 months after treatment, self-paired t test(P < 0.01);Self-paired t-test was performed 7 days after treatment and 6 months after treatment(P > 0.05).Conclusion: With CT precise positioning, the modified akupotomye can be used to do closed lysis, to relieve the adhesion and compression, so that the low back pain can be relieved, with good clinical.The akupotomye closed lysis, combined with modern imaging technology has not only achieved good clinical effect, but also can improve the accuracy, safety and scientificity of akupotomye treatment. 相似文献
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近10年来,甲状腺外科快速发展。随着甲状腺外科相关指南、专家共识的不断修订与完善,在专业团体的引导下,中国甲状腺外科在术前诊断、手术方式、治疗方法创新等方面实现了可喜发展,病人5年生存率明显提高。甲状腺疾病诊治技术快速革新、外科术式的发展与统一、多学科诊疗模式发展与应用、术后规范化管理助力疗效提高、重视特殊情况下的甲状腺癌及髓样癌诊治以及质量控制体系的建立与完善等综合发展提升了甲状腺癌诊疗的安全性、精准性,有效的改善了病人生活质量、延长生存时间,为建设健康中国贡献力量。 相似文献
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《Archives of Cardiovascular Diseases》2022,115(10):505-513
Central illustration: cumulative major adverse cardiac events (MACE) and bioresorbable vascular scaffold (BVS) thrombosis rates after 1, 2, 3, 4 and 5 years. 相似文献
110.
目的 探讨快速康复外科 (FTS)理念在经后颅窝乙状窦后入路三叉神经微血管减压术围术期患者护理中的应用效果。方法 选择2018年1月~2019年1月我院收治并行经后颅窝乙状窦后入路三叉神经微血管减压患者100例,随机分成观察组和对照组,每组50例。对照组应用常规方法进行围术期护理,观察组应用FTS理念进行围术期护理。比较两组焦虑情况、术后并发症发生率、平均住院日及平均住院费用。结果 观察组轻度焦虑多于对照组,中、重度焦虑少于对照组(P<0.05);观察组术后并发症发生率低于对照组[恶心呕吐(4.00% vs 16.00%)、尿路感染(4.00% vs 18.00%)、颅内感染(0 vs 8.00%)、颅内血肿(2.00% vs 14.00%)和术后应激性疼痛(16.00% vs 34.00%)],差异有统计学意义(P<0.05);观察组平均住院日和平均住院费用均低于对照组[(9.13±1.14)d vs(12.44±0.89)d];[(2.15±0.66)万元 vs (3.05±0.61)万元],差异有统计学意义(P<0.05)。结论 应用FTS理念能缓解经后颅窝乙状窦后入路三叉神经微血管减压术患者术前紧张恐惧的心理,减少术后并发症,缩短患者住院日,降低住院费用,护理效果较好。 相似文献