Amyloid-Journal of Protein Folding Disorders最新文献_第4页

Altered connectivity of central autonomic network: effects of dysautonomia in hereditary transthyretin amyloidosis with polyneuropathy. 中枢自律神经网络连接的改变：遗传性转甲状腺素淀粉样变性伴有多发性神经病的自律神经失调症的影响。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-07-24 DOI: 10.1080/13506129.2024.2383450

Tsai-Jou Su, Chien-Ho Janice Lin, Yen-Lin Liu, Hsueh-Wen Hsueh, Sung-Tsang Hsieh, Chi-Chao Chao, Ming-Chang Chiang

{"title":"Altered connectivity of central autonomic network: effects of dysautonomia in hereditary transthyretin amyloidosis with polyneuropathy.","authors":"Tsai-Jou Su, Chien-Ho Janice Lin, Yen-Lin Liu, Hsueh-Wen Hsueh, Sung-Tsang Hsieh, Chi-Chao Chao, Ming-Chang Chiang","doi":"10.1080/13506129.2024.2383450","DOIUrl":"10.1080/13506129.2024.2383450","url":null,"abstract":"Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a progressive fatal disorder caused by deposition of mutant transthyretin (TTR) amyloids mainly in the nerves and heart. Autonomic dysfunction is a major disabling manifestation, affecting 90% of patients with late-onset ATTRv-PN. The current study aimed to investigate brain functional alterations associated with dysautonomia due to peripheral autonomic nerve degeneration in ATTRv-PN.Methods: Resting-state functional MRI data were acquired from 43 ATTRv-PN patients predominantly of A97S (p.A117S) genotype, and the functional connectivity of central autonomic regions was assessed.Results: Compared with age-matched healthy controls, the ATTRv-PN patients exhibited (1) reduced functional connectivity of the central autonomic regions such as hypothalamus, amygdala, anterior insula, and middle cingulate cortex with brain areas of the limbic, frontal, and somatosensory systems, and (2) correlations of reduced functional autonomic connectivity with the severity of autonomic dysfunction especially orthostatic intolerance, decreased heart rate variability, and greater clinical disability.Conclusions: Our findings provide evidence linking peripheral autonomic dysfunction with altered connectivity in the central autonomic network in ATTRv-PN.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"257-265"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141753334","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

Incidence and predictors of sudden death in patients with cardiac amyloidosis. 心脏淀粉样变性患者猝死的发生率和预测因素。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-10-24 DOI: 10.1080/13506129.2024.2414295

Fernando de Frutos, Giulia Saturi, Esther Gonzalez-Lopez, Maurizio Sguazzotti, Fernando Dominguez, Alberto Ponziani, Eva Cabrera-Romero, Angelo Giuseppe Caponetti, Sara Lozano, Paolo Massa, Belen Peiro-Aventin, Antonella Accietto, Nerea Mora-Ayestarán, Alessandro Giovannetti, Victor Castro-Urda, Christian Gagliardi, Marta Cobo-Marcos, Rafael Rios-Tamayo, Elena Biagini, Manuel Gomez-Bueno, Nazzareno Galiè, Javier Segovia-Cubero, Simone Longhi, Pablo Garcia-Pavia

{"title":"Incidence and predictors of sudden death in patients with cardiac amyloidosis.","authors":"Fernando de Frutos, Giulia Saturi, Esther Gonzalez-Lopez, Maurizio Sguazzotti, Fernando Dominguez, Alberto Ponziani, Eva Cabrera-Romero, Angelo Giuseppe Caponetti, Sara Lozano, Paolo Massa, Belen Peiro-Aventin, Antonella Accietto, Nerea Mora-Ayestarán, Alessandro Giovannetti, Victor Castro-Urda, Christian Gagliardi, Marta Cobo-Marcos, Rafael Rios-Tamayo, Elena Biagini, Manuel Gomez-Bueno, Nazzareno Galiè, Javier Segovia-Cubero, Simone Longhi, Pablo Garcia-Pavia","doi":"10.1080/13506129.2024.2414295","DOIUrl":"10.1080/13506129.2024.2414295","url":null,"abstract":"Introduction: Although sudden death (SD) is a recognized complication of cardiac amyloidosis, there is scarce data about its incidence, mechanisms, and predictors. The aim of this study was to describe incidence of SD and to analyze possible risk factors.Methods: Consecutive patients with ATTR or AL cardiac amyloidosis evaluated at two European centers were identified. SD was defined as unexpected death in clinically stable patients. Cox proportional hazard regression was performed to assess risk factors in univariate analysis. Those statistically significant were then assessed through age-adjusted multivariate analysis.Results: Analysis included 784 patients, 569 with ATTR amyloidosis (mean age 74.1 ± 12.1 years) and 215 with AL amyloidosis (mean age 64.5 ± 10.8 years). After a median follow-up of 1.9 years, SD rate at 2 years was 1.8% in ATTR. Previous pacemaker implantation (PPM) was associated with increased risk after age-adjusted analysis (HR 4.97; 95%CI: 1.39-17.7; p = 0.01). SD rate in AL amyloidosis patients at 2 years was 8.0% after a median follow-up of 1.2 years. Betablockers and NYHA III-IV were independently associated with an increased risk after age-adjusted multivariate analysis (HR 7.06 95%CI (2.31-21.5) p = 0.001) and (HR 4.56 95%CI (1.51-13.8) p = 0.007) respectively.Conclusions: SD is more frequent in AL than in ATTR cardiac amyloidosis. SD is associated with different risk factors in both entities.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"334-338"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512465","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

Cardiac amyloidosis: the possibilities and challenges in the Ghanaian setting. 心脏淀粉样变性：加纳的可能性与挑战。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-11-04 DOI: 10.1080/13506129.2024.2422458

Andrew Sefenu Dzebu, Magalys López Cuba

引用次数: 0

International prevalence of transthyretin amyloid cardiomyopathy in high-risk patients with heart failure and preserved or mildly reduced ejection fraction. 在心力衰竭、射血分数保留或轻度降低的高危患者中，转甲状腺素淀粉样变性心肌病的国际流行率。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-09-08 DOI: 10.1080/13506129.2024.2398446

Sergi Yun, Giovanni Palladini, Lisa J Anderson, Eve Cariou, Ronnie Wang, Franca S Angeli, Ben Ebede, Pablo Garcia-Pavia

{"title":"International prevalence of transthyretin amyloid cardiomyopathy in high-risk patients with heart failure and preserved or mildly reduced ejection fraction.","authors":"Sergi Yun, Giovanni Palladini, Lisa J Anderson, Eve Cariou, Ronnie Wang, Franca S Angeli, Ben Ebede, Pablo Garcia-Pavia","doi":"10.1080/13506129.2024.2398446","DOIUrl":"10.1080/13506129.2024.2398446","url":null,"abstract":"Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure (HF).Methods: This epidemiology study assessed the international prevalence of ATTR-CM among patients aged ≥60 years with a history of HF, left ventricular ejection fraction (LVEF) >40%, an end-diastolic interventricular septum thickness (IVST) ≥12 mm, but without diagnosed amyloidosis, history of LVEF ≤40%, cardiomyopathy of known cause, severe valvular, or coronary heart disease. ATTR-CM was determined using cardiac scintigraphy alongside exclusionary testing for light chain amyloidosis. The study was terminated early due to slow recruitment, without safety concerns.Results: Overall, 56/315 (18%; 95% CI: 13.7-22.5) patients with evaluable scintigraphy had ATTR-CM, with a numerically higher prevalence in: Europe (24%) vs. other regions (9% Asia; 5% North America); at specialist vs non-specialist centres (26% vs. 11%); in males vs. females (24% vs. 10%); and in older vs. younger patients (e.g. >40% among those ≥85 years). Other risk markers (p<.05) included a history of carpal tunnel syndrome, higher N-terminal pro B-type natriuretic peptide concentration, and higher end-diastolic IVST.Conclusions: ATTR-CM was diagnosed in 18% (95% CI: 13.7-22.5) of evaluable patients with HF, LVEF >40%, and risk markers for ATTR-CM, but no previous diagnosis of amyloidosis. Recruitment bias may have contributed to regional variability. NCT04424914.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"291-301"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156570","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

Anti-PEG antibodies associated with reduced therapeutic effect of patisiran in patients with hereditary transthyretin amyloidosis. 遗传性转甲状腺素淀粉样变性患者的抗PEG抗体与帕替西兰治疗效果降低有关。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-08-10 DOI: 10.1080/13506129.2024.2388713

Björn Pilebro, Jonas Wixner, Intissar Anan

引用次数: 0

Brain MRI in patients with V30M hereditary transthyretin amyloidosis. V30M 遗传性转甲状腺素淀粉样变性患者的脑磁共振成像。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-08-17 DOI: 10.1080/13506129.2024.2391842

Luísa Sousa, Catarina Pinto, Ana Azevedo, Liliana Igreja, Ana Marta, Joana Fernandes, Pedro Oliveira, Márcio Cardoso, Cristina Alves, Ana Martins da Silva, Miguel Mendonça Pinto, Ana Paula Sousa, Teresa Coelho, Ricardo Taipa

{"title":"Brain MRI in patients with V30M hereditary transthyretin amyloidosis.","authors":"Luísa Sousa, Catarina Pinto, Ana Azevedo, Liliana Igreja, Ana Marta, Joana Fernandes, Pedro Oliveira, Márcio Cardoso, Cristina Alves, Ana Martins da Silva, Miguel Mendonça Pinto, Ana Paula Sousa, Teresa Coelho, Ricardo Taipa","doi":"10.1080/13506129.2024.2391842","DOIUrl":"10.1080/13506129.2024.2391842","url":null,"abstract":"Background: Central nervous system dysfunction is common in longstanding hereditary transthyretin amyloidosis (ATTRv) caused by the V30M (p.V50M) mutation. Neuropathology studies show leptomeningeal amyloid deposition and cerebral amyloid angiopathy (CAA). Brain MRI is widely used in the assessment of Aβ associated CAA but there are no systematic studies with brain MRI in ATTRv amyloidosis.Methods: we performed 3 T brain MRIs in 16 patients with longstanding (>14 years) ATTRV30M. We additionally retrospectively reviewed 48 brain MRIs from patients followed at our clinic. CNS symptoms and signs were systematically accessed, and MRIs were blindly reviewed for ischaemic and haemorrhagic lesions.Results: in the prospective cohort, we found white matter hyperintensities in 8/16 patients (50%, Fazekas score> =1). There were no relevant microbleeds, large ischaemic or haemorrhagic lesions or superficial siderosis. In the retrospective cohort, microbleeds were found in 5/48 patients (10,4%), two of which with > =20 microbleeds. White matter hyperintensities were found in 20/48 cases (41.7%). White matter lesions, microbleeds and cortical atrophy were not associated with disease duration.Conclusions: white matter hyperintensities are common in ATTRV30M, irrespective of disease duration. Haemorrhagic lesions are rare, even in patients with longstanding disease, suggesting the existence of other risk factors.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"285-290"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996881","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

Anomalous colours, not interference colours or 'apple-green birefringence', in Congo red-stained amyloid. 刚果红染色淀粉样蛋白中的异常颜色，而非干涉色或 "苹果绿双折射"。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-10-30 DOI: 10.1080/13506129.2024.2421427

Alexander J Howie

引用次数: 0

A report from the European Proteomics Amyloid Network (EPAN). 欧洲蛋白质组学淀粉样蛋白网络（EPAN）的报告。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-08-22 DOI: 10.1080/13506129.2024.2392185

Diana Canetti, Graham W Taylor, Francesca Lavatelli, Christoph Röcken

引用次数: 0

Amyloid nomenclature 2024: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. 淀粉样蛋白命名法 2024：国际淀粉样变性学会（ISA）命名法委员会的更新、新型蛋白质和建议。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-09-30 DOI: 10.1080/13506129.2024.2405948

Joel N Buxbaum, David S Eisenberg, Marcus Fändrich, Ellen D McPhail, Giampaolo Merlini, Maria J M Saraiva, Yoshiki Sekijima, Per Westermark

{"title":"Amyloid nomenclature 2024: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee.","authors":"Joel N Buxbaum, David S Eisenberg, Marcus Fändrich, Ellen D McPhail, Giampaolo Merlini, Maria J M Saraiva, Yoshiki Sekijima, Per Westermark","doi":"10.1080/13506129.2024.2405948","DOIUrl":"10.1080/13506129.2024.2405948","url":null,"abstract":"The ISA Nomenclature Committee met at the XIX International Symposium of Amyloidosis in Rochester, MN, 27 May 2024. The in-person event was followed by many electronic discussions, resulting in the current updated recommendations. The general nomenclature principles are unchanged. The total number of human amyloid fibril proteins is now 42 of which 19 are associated with systemic deposition, while 4 occur with either localised or systemic deposits. Most systemic amyloidoses are caused by the presence of protein variants which promote misfolding. However, in the cases of AA and ATTR the deposits most commonly consist of wild-type proteins and/or their fragments. One peptide drug, previously reported to create local iatrogenic amyloid deposits at its injection site, has been shown to induce rare instances of systemic deposition. The number of described animal amyloid fibril proteins is now 16, 2 of which are unknown in humans. Recognition of the importance of intracellular protein aggregates, which may have amyloid or amyloid-like properties, in many neurodegenerative diseases is rapidly increasing and their significance is discussed.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"249-256"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331801","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

Amyloidosis can be diagnosed by cardiologists in Africa: now they should be given the medicine to treat it. 非洲的心脏病专家可以诊断出淀粉样变性：现在应该给他们提供治疗药物。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-11-04 DOI: 10.1080/13506129.2024.2422474

Lucio Luzzatto

引用次数: 0