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Detection of ATTR aggregates in the plasma of polyneuropathic patients with ATTR-V30M amyloidosis 在患有 ATTR-V30M 淀粉样变性的多发性神经病患者血浆中检测 ATTR 聚集物
Pub Date : 2024-09-16 DOI: 10.1080/13506129.2024.2404073
Rose Pedretti, Lanie Wang, Justin L. Grodin, Ahmad Masri, Jeffery Kelly, Lorena Saelices
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2024)
发表于《淀粉样蛋白蛋白质折叠障碍杂志》(2024 年,提前出版)
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引用次数: 0
Modified ex-PRESS technique versus Ahmed glaucoma valve as primary glaucoma surgery for hereditary transthyretin amyloidosis glaucoma. 改良前PRESS技术与艾哈迈德青光眼瓣膜作为遗传性经淀粉样蛋白淀粉样变性青光眼的主要青光眼手术。
Pub Date : 2024-09-10 DOI: 10.1080/13506129.2024.2398452
Bruno Barbosa Ribeiro,Rita Vieira,André Ferreira,Ana Marta,Ana Figueiredo,Rita Reis,Isabel Sampaio,João Melo Beirão,Maria João Menéres
BACKGROUNDTo compare the efficacy of modified Ex-PRESS technique (ExP) versus Ahmed Glaucoma Valve (AGV) as primary surgery in hereditary transthyretin amyloidosis (ATTRv) secondary glaucoma.METHODSRetrospective study at the national amyloidosis centre. Success was defined as an IOP ≥ 6 mmHg and ≤ 21 mmHg with no need for further glaucoma surgery or laser trabeculoplasty and without loss of light perception at the time of the last follow-up. Secondary outcomes included surgical complications, need for hypotensive drugs, and endothelial cell loss. Patients submitted to previous glaucoma surgery were excluded.RESULTSWe included 180 eyes of 150 patients, 121 in AGV and 59 in ExP group. No significant baseline differences were found between groups. At the time of last follow-up, both groups exhibited significant intraocular pressure (IOP) reduction (p < .001) and number of glaucoma medications (p < .001). Kaplan-Meyer analysis showed higher cumulative probability of success for AGV group (80.1% vs. 41.1%, p < .001) and higher mean time to failure (54.5 vs. 36.9 months, respectively, p < 0.001) at 60 months follow-up. AGV showed lower hazard (HR 0.21, 95% CI [0.111-0.407], p < .001) for failure.CONCLUSIONAGV and ExP are safe and effective techniques in the treatment of ATTRv secondary glaucoma. However, AGV's efficacy seems to be more durable.
背景比较改良Ex-PRESS技术(ExP)与Ahmed青光眼瓣膜(AGV)作为遗传性经淀粉样蛋白淀粉样变性(ATTRv)继发性青光眼主要手术的疗效。成功定义为眼压≥ 6 mmHg 和≤ 21 mmHg,且无需进一步进行青光眼手术或激光小梁成形术,最后一次随访时没有光感丧失。次要结果包括手术并发症、降压药物需求和内皮细胞损失。我们共纳入了 150 名患者的 180 只眼睛,其中 AGV 组 121 只,ExP 组 59 只。两组之间没有发现明显的基线差异。在最后一次随访时,两组患者的眼压(IOP)均有明显降低(p < .001),青光眼用药次数也有明显减少(p < .001)。Kaplan-Meyer 分析显示,随访 60 个月时,AGV 组的累积成功概率更高(80.1% 对 41.1%,p < .001),平均失败时间更长(分别为 54.5 个月对 36.9 个月,p < 0.001)。结论AGV和ExP是治疗ATTRv继发性青光眼安全有效的技术。不过,AGV 的疗效似乎更持久。
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引用次数: 0
1. Daily life in patients with hereditary transthyretin amyloidosis: a qualitative study 1.遗传性转甲状腺素淀粉样变性患者的日常生活:一项定性研究
Pub Date : 2024-05-23 DOI: 10.1080/13506129.2024.2347124
Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada López, Milena Paneque, Eugenia Cisneros-Barroso
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引用次数: 0
Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counselling ATTRV30M 淀粉样变性家族的异质性:葡萄牙历史和纵向病例研究对遗传咨询的影响
Pub Date : 2024-04-08 DOI: 10.1080/13506129.2024.2332679
Maria Pedroto, Teresa Coelho, Joana Fernandes, Alexandra Oliveira, Alípio Jorge, João Mendes-Moreira
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is an inherited disease, where the study of family history holds importance. This study evaluates the changes of age-of-onset (AOO) and othe...
遗传性转甲状腺素淀粉样变性(ATTRv amyloidosis)是一种遗传性疾病,对家族史的研究具有重要意义。本研究评估了发病年龄(AOO)的变化及其他因素对遗传性转甲状腺素淀粉样变性的影响。
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引用次数: 0
Dual AApoAIV amyloidosis and ATTR amyloidosis arising in the same patient: a report of three cases 同一患者同时患有双AApoAIV淀粉样变性和ATTR淀粉样变性:三例病例报告
Pub Date : 2023-12-15 DOI: 10.1080/13506129.2023.2292949
Joanna C. Dalland, Linda N. Dao, Surendra Dasari, Jason D. Theis, April Chiu, Karen L. Rech, Matthew T. Howard, Martha Grogan, Catherine Hagen, Melanie C. Bois, Ellen D. McPhail
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)
发表于《淀粉样蛋白蛋白质折叠障碍杂志》(2023 年提前出版)
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引用次数: 0
Neurofilament light chain kinetics as a biomarker for polyneuropathy in V122I hereditary transthyretin amyloidosis 神经丝蛋白轻链动力学作为 V122I 遗传性转甲状腺素淀粉样变性多神经病的生物标志物
Pub Date : 2023-12-11 DOI: 10.1080/13506129.2023.2289340
K. H. Vincent Lau, Tatiana Prokaeva, Luke Zheng, Gheorghe Doros, Michelle C. Kaku, Brian Spencer, John Berk, Vaishali Sanchorawala
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)
发表于《淀粉样蛋白蛋白质折叠障碍杂志》(2023 年提前出版)
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引用次数: 0
Longitudinal evolution of ventricular function and cardiac magnetic resonance imaging tissue characteristics in tafamidis-treated transthyretin amyloid cardiomyopathy 塔法米迪斯治疗的转甲状腺素淀粉样变性心肌病心室功能和心脏磁共振成像组织特征的纵向演变
Pub Date : 2023-12-09 DOI: 10.1080/13506129.2023.2284108
Stephan Dobner, Benedikt Bernhard, Monika Wieser, Andreas Wahl, Anselm W. Stark, Valentin Köchli, Giancarlo Spano, Martina Boscolo Berto, Caroline Johner, Elena Elchinova, Giulin Tanner, Yasaman Safarkhanlo, Stefan Stortecky, Jonathan Schütze, Lukas Hunziker Munsch, Christoph Gräni
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)
发表于《淀粉样蛋白蛋白质折叠障碍杂志》(2023 年提前出版)
{"title":"Longitudinal evolution of ventricular function and cardiac magnetic resonance imaging tissue characteristics in tafamidis-treated transthyretin amyloid cardiomyopathy","authors":"Stephan Dobner, Benedikt Bernhard, Monika Wieser, Andreas Wahl, Anselm W. Stark, Valentin Köchli, Giancarlo Spano, Martina Boscolo Berto, Caroline Johner, Elena Elchinova, Giulin Tanner, Yasaman Safarkhanlo, Stefan Stortecky, Jonathan Schütze, Lukas Hunziker Munsch, Christoph Gräni","doi":"10.1080/13506129.2023.2284108","DOIUrl":"https://doi.org/10.1080/13506129.2023.2284108","url":null,"abstract":"Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)","PeriodicalId":7882,"journal":{"name":"Amyloid","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138567624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Amyloid
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