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Amyloid-Journal of Protein Folding Disorders最新文献

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Looking beyond left ventricular wall thickness: the search for cardiac amyloidosis in women. 超越左心室壁厚度：女性心脏淀粉样变性的研究。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-09-26 DOI: 10.1080/13506129.2025.2562864
Carolina Lemos, Ersilia M DeFilippis
{"title":"Looking beyond left ventricular wall thickness: the search for cardiac amyloidosis in women.","authors":"Carolina Lemos, Ersilia M DeFilippis","doi":"10.1080/13506129.2025.2562864","DOIUrl":"10.1080/13506129.2025.2562864","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"309-310"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145151606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A collaborative approach to amyloidosis and a multidisciplinary care framework - position statement from the International Society of Amyloidosis. 淀粉样变性的合作方法和多学科护理框架-国际淀粉样变性学会的立场声明。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-10-16 DOI: 10.1080/13506129.2025.2570096
Vaishali Sanchorawala, Ashutosh Wechalekar, Peter Mollee, Yoshiki Sekijima, Mathew S Maurer, Nelson Leung, Stefan O Schönland, Shaji Kumar
{"title":"A collaborative approach to amyloidosis and a multidisciplinary care framework - position statement from the International Society of Amyloidosis.","authors":"Vaishali Sanchorawala, Ashutosh Wechalekar, Peter Mollee, Yoshiki Sekijima, Mathew S Maurer, Nelson Leung, Stefan O Schönland, Shaji Kumar","doi":"10.1080/13506129.2025.2570096","DOIUrl":"10.1080/13506129.2025.2570096","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"303-308"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Change of guard at Amyloid - a tribute to outgoing Editor in Chief, Professor Per Westermark. 淀粉样蛋白的换岗——向即将离任的主编，佩尔·韦斯特马克教授致敬。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-10-15 DOI: 10.1080/13506129.2025.2574101
Shaji Kumar
{"title":"Change of guard at <i>Amyloid</i> - a tribute to outgoing Editor in Chief, Professor Per Westermark.","authors":"Shaji Kumar","doi":"10.1080/13506129.2025.2574101","DOIUrl":"10.1080/13506129.2025.2574101","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"301-302"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Commentary to revisiting the genetic epidemiology of ATTRv in Spain: the Balearic Islands as a high-prevalence founder focus. 重新审视西班牙ATTRv的遗传流行病学评论：巴利阿里群岛作为高流行率的创始人焦点。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-11-15 DOI: 10.1080/13506129.2025.2577796
Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carmen Orellana
{"title":"Commentary to revisiting the genetic epidemiology of ATTRv in Spain: the Balearic Islands as a high-prevalence founder focus.","authors":"Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carmen Orellana","doi":"10.1080/13506129.2025.2577796","DOIUrl":"10.1080/13506129.2025.2577796","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"387-389"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145524843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study. 遗传性转甲状腺蛋白淀粉样变在西班牙的遗传景观：一项多中心回顾性研究。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-07-07 DOI: 10.1080/13506129.2025.2527830
Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, Mónica Roselló, Silvestre Oltra, Laia Pedrola, Sandra Monfort, Alba Gabaldón-Albero, Francisco Martínez, Carmen Orellana
{"title":"Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.","authors":"Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, Mónica Roselló, Silvestre Oltra, Laia Pedrola, Sandra Monfort, Alba Gabaldón-Albero, Francisco Martínez, Carmen Orellana","doi":"10.1080/13506129.2025.2527830","DOIUrl":"10.1080/13506129.2025.2527830","url":null,"abstract":"<p><strong>Background: </strong>Hereditary transthyretin amyloidosis (ATTRv) is a rare, progressive disorder caused by <i>TTR</i> gene variants, leading to amyloid fibril deposition and clinical manifestations like cardiomyopathy and polyneuropathy. National data for Spain are scarce, despite known high-prevalence areas such as Majorca.</p><p><strong>Methods: </strong>This multicentric, retrospective study analysed 4,526 individuals from 48/52 Spanish regions between 2015 and 2024, including 3,960 index cases and 566 at-risk relatives. Genetic testing was performed to identify pathogenic <i>TTR</i> variants.</p><p><strong>Results: </strong>Among 393 carriers of pathogenic variants, the most prevalent were p.Val50Met (64.1%) and p.Val142Ile (29.5%). Regional prevalence varied, with new high-prevalence areas identified, including Cádiz, Castellón, Ciudad Real, Huelva, Valencia and Zamora. A novel variant of unknown clinical significance, p.Ser137Thr, was found in two unrelated cases. Genotype-phenotype correlations showed p.Val50Met is linked to neurological phenotypes, while p.Val142Ile is associated with cardiac manifestations. A male predominance was observed in index cases, while the sex ratio in carrier relatives was similar to the general population.</p><p><strong>Conclusions: </strong>This is the largest nationwide study of ATTRv in Spain, providing key insights into its genetic landscape. The findings suggest migratory factors may influence variant distribution, emphasising the importance of genetic screening for early diagnosis and management.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"324-334"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Article commentary on: 'impact of autonomic dysfunction on cardiovascular outcomes among patients with ATTR cardiomyopathy: insights from the COMPASS-31'. 文章评论：“自主神经功能障碍对ATTR心肌病患者心血管预后的影响：来自COMPASS-31的见解”。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-09-07 DOI: 10.1080/13506129.2025.2554876
Jonas Wixner
{"title":"Article commentary on: 'impact of autonomic dysfunction on cardiovascular outcomes among patients with ATTR cardiomyopathy: insights from the COMPASS-31'.","authors":"Jonas Wixner","doi":"10.1080/13506129.2025.2554876","DOIUrl":"10.1080/13506129.2025.2554876","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"311-313"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145008576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case of acute myelopathy in ATTR-Val30Met amyloidosis with leptomeningeal involvement: pathophysiological insights and upcoming therapeutic challenges. atr - val30met淀粉样变性伴轻脑膜累及的急性脊髓病1例：病理生理学见解和即将到来的治疗挑战。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-07-20 DOI: 10.1080/13506129.2025.2533921
Obay Alalousi, Thierry Gendre, Blanche Bapst, Violaine Planté-Bordeneuve
{"title":"A case of acute myelopathy in ATTR-Val30Met amyloidosis with leptomeningeal involvement: pathophysiological insights and upcoming therapeutic challenges.","authors":"Obay Alalousi, Thierry Gendre, Blanche Bapst, Violaine Planté-Bordeneuve","doi":"10.1080/13506129.2025.2533921","DOIUrl":"10.1080/13506129.2025.2533921","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"364-366"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and neurophysiological features of neuropathic pain in hereditary transthyretin amyloidosis associated polyneuropathy. 遗传性甲状腺转蛋白淀粉样变相关多神经病变神经性疼痛的临床和神经生理特征。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-08-13 DOI: 10.1080/13506129.2025.2544926
Isabel Conceição, Isabel de Castro, José Castro
{"title":"Clinical and neurophysiological features of neuropathic pain in hereditary transthyretin amyloidosis associated polyneuropathy.","authors":"Isabel Conceição, Isabel de Castro, José Castro","doi":"10.1080/13506129.2025.2544926","DOIUrl":"10.1080/13506129.2025.2544926","url":null,"abstract":"<p><strong>Background: </strong>Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is often associated with neuropathic pain (NP), involving developing mechanisms across different nerve fibres. This study aimed to explore the relationship between NP intensity and clinical/neurophysiological measures in symptomatic ATTR V30M (p.V50M)-PN patients.</p><p><strong>Methods: </strong>We included 106 symptomatic patients (46 males; mean age 47.5 ± 13.2 years). NP severity was classified using three pain-related items from the Norfolk QOL-DN, generating three groups: no pain, mild pain, and moderate-to-severe pain. Clinical and neurophysiological assessments included the Neuropathy Impairment Score (NIS), nerve conduction studies (sural SNAP, peroneal CMAP), electrochemical skin conductance (ESC), sympathetic skin response (SSR), and Quantitative Sensory Testing (QST). Statistical analyses included non-parametric tests and ordinal logistic regression.</p><p><strong>Results: </strong>Patients with NP had significantly higher NIS scores and reduced sural/peroneal amplitudes and ESC values. However, only NIS was significantly associated with NP intensity (OR = 1.062, 95% CI: 1.008-1.119, <i>p</i> = .024). Subscore analysis showed the sensory component as the main driver (OR = 1.205, <i>p</i> = .015). QST variables differed by pain presence but not intensity.</p><p><strong>Conclusion: </strong>NIS, especially its sensory subscore, is a robust predictor of NP severity in ATTRv-PN. These findings support its utility in monitoring disease burden and guiding management.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"344-351"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144849531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A cautionary case series: tafamidis mistreatment following erroneous diagnosis of transthyretin cardiac amyloidosis. 警示性病例系列：经甲状腺素型心脏淀粉样变性错误诊断后的他非他汀治疗。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-09-11 DOI: 10.1080/13506129.2025.2553525
Eli Muchtar, Hilda Gonzalez Bonilla, Vaishali Sanchorawala, Nyshidha Gurijala, Ahmad Masri, Bryton Davis, Omar Abou Ezzeddine, Paolo Milani, Giovanni Palladini, Margaret Cuomo, Mathew Maurer, Martha Grogan
{"title":"A cautionary case series: tafamidis mistreatment following erroneous diagnosis of transthyretin cardiac amyloidosis.","authors":"Eli Muchtar, Hilda Gonzalez Bonilla, Vaishali Sanchorawala, Nyshidha Gurijala, Ahmad Masri, Bryton Davis, Omar Abou Ezzeddine, Paolo Milani, Giovanni Palladini, Margaret Cuomo, Mathew Maurer, Martha Grogan","doi":"10.1080/13506129.2025.2553525","DOIUrl":"10.1080/13506129.2025.2553525","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"379-382"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expanding the clinical spectrum of lysozyme-derived amyloidosis. 扩大溶菌酶衍生淀粉样变性的临床范围。
IF 7.4 2区 医学
Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-07-24 DOI: 10.1080/13506129.2025.2533930
Marie Robert, Yasmine Serrar, Thibaud Mathis, Thomas Barba, Olivier Thaunat, Arnaud Hot, Laurent Kodjikian
{"title":"Expanding the clinical spectrum of lysozyme-derived amyloidosis.","authors":"Marie Robert, Yasmine Serrar, Thibaud Mathis, Thomas Barba, Olivier Thaunat, Arnaud Hot, Laurent Kodjikian","doi":"10.1080/13506129.2025.2533930","DOIUrl":"10.1080/13506129.2025.2533930","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"367-370"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","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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