Amyloid-Journal of Protein Folding Disorders最新文献

{"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":"https://doi.org/10.1080/13506129.2024.2414295","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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; <i>p</i> = 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) <i>p</i> = 0.001) and (HR 4.56 95%CI (1.51-13.8) <i>p</i> = 0.007) respectively.</p><p><strong>Conclusions: </strong>SD is more frequent in AL than in ATTR cardiac amyloidosis. SD is associated with different risk factors in both entities.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-5"},"PeriodicalIF":5.2,"publicationDate":"2024-10-24","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}

{"title":"AA amyloidosis in vertebrates: epidemiology, pathology and molecular aspects.","authors":"Valentina Moccia, Claudia Maria Tucciarone, Silvia Garutti, Melissa Milazzo, Filippo Ferri, Carlo Palizzotto, Maria Mazza, Marco Basset, Eric Zini, Stefano Ricagno, Silvia Ferro","doi":"10.1080/13506129.2024.2417219","DOIUrl":"https://doi.org/10.1080/13506129.2024.2417219","url":null,"abstract":"<p><p>AA amyloidosis is a prototypic example of systemic amyloidosis: it results from the prolonged overproduction of SAA protein produced in response to chronic inflammation. AA amyloidosis primarily affects the kidneys, liver, spleen, gastrointestinal tract, leading to a variety of symptoms. First, this review examines AA amyloidosis in humans, focusing on pathogenesis, clinical presentation, and diagnosis and then in animals. In fact AA amyloidosis is the only systemic amyloidosis that has been largely documented in a remarkable number of vertebrate species: mammals, birds, and fishes, especially in individuals with comorbidities, chronic stress, or held in captivity. Secondly, here, we summarise independent sets of evidence obtained on different animal species, exploring the possible transmissibility of AA amyloidosis especially in crowded or confined populations. Finally, biochemical and structural data on native SAA and on AA amyloid fibrils from human, murine, and cat ex vivo samples are discussed. The available structural data depict a complex scenario, where SAA can misfold forming highly different amyloid assemblies. This review highlights the complexity of AA amyloidosis, emphasising the need for further research into its spread in the animal kingdom, its structural aspects, and pathogenetic mechanisms to evaluate its impact on human and animal health.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-11"},"PeriodicalIF":5.2,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480034","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}

{"title":"Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis - correlation between neurofilament light chain and nerve conduction study.","authors":"Masateru Tajiri, Mitsuto Sato, Minori Kodaira, Akira Matsushima, Yusuke Mochizuki, Yusuke Takahashi, Ken Takasone, Emre Aldinc, Simina Ticau, Gang Jia, Yoshiki Sekijima","doi":"10.1080/13506129.2024.2409760","DOIUrl":"https://doi.org/10.1080/13506129.2024.2409760","url":null,"abstract":"<p><strong>Background: </strong>Neurofilament light chain (NfL) is a biomarker of neuronal injury in hereditary ATTR (ATTRv) amyloidosis. However, the correlation between NfL and nerve conduction study (NCS), the standard test for ATTRv neuropathy, has not been investigated.</p><p><strong>Objective: </strong>Elucidate the correlation between NfL and NCS parameters.</p><p><strong>Methods: </strong>227 serum NfL measurements were performed in 45 ATTRv patients, 5 asymptomatic carriers, and 12 controls. Among them, 177 simultaneous analyses of NCS and NfL were conducted in 45 ATTRv patients.</p><p><strong>Results: </strong>NfL levels of symptomatic patients were significantly higher than those of asymptomatic carriers and controls. Serum NfL levels were correlated with NCS parameters, especially compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes, indicators of axonal damage. CMAP and/or SNAP amplitudes were undetectable in 9 patients (no-amplitude group) due to advanced neuropathy. NfL levels in the no-amplitude group were significantly higher than those in patients with detectable CMAP/SNAP. NfL levels significantly decreased with patisiran, although no significant changes were observed in CMAP and SNAP.</p><p><strong>Conclusions: </strong>NfL levels are found to be correlated with CMAP/SNAP amplitudes. Compared with NCS, NfL can be a more sensitive biomarker for detecting treatment response and active nerve damage even in patients with advanced neuropathy.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-8"},"PeriodicalIF":5.2,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395016","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}

{"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":"<p><p>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.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-8"},"PeriodicalIF":5.2,"publicationDate":"2024-09-30","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}

{"title":"Prognostic value of CMR-derived extracellular volume in AL amyloidosis: a multicenter study.","authors":"Martin Nicol, Cassiel Kitzinger, Mathilde Baudet, Alyssa Faradji, Théo Pezel, David Lavergne, Arnaud Jaccard, Giuseppe Vergaro, Alberto Aimo, Michele Emdin, Stephanie Harel, Bruno Royer, Alexis Talbot, Valérie Bousson, Laurent Macron, Bertrand Arnulf, Damien Logeart","doi":"10.1080/13506129.2024.2406842","DOIUrl":"https://doi.org/10.1080/13506129.2024.2406842","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to assess the prognostic value of cardiac magnetic resonance (CMR) variables and compare them with biological and echocardiographic markers in patients with AL cardiac amyloidosis (CA).</p><p><strong>Methods: </strong>We conducted a prospective study across three tertiary centres, where patients underwent clinical examination, blood tests, echocardiography, and CMR. The primary endpoint was all-cause mortality.</p><p><strong>Results: </strong>A total of 176 patients with AL CA were included, with a median age of 68 years (IQR 58-75). According to the 2004 Mayo Clinic staging, 121 patients (69%) were in stage 3. During a median follow-up of 22 months (IQR 8-48), 45 patients died, and 55 were hospitalized for heart failure. Patients who died had higher NT-proBNP and troponin levels, and lower LVEF, cardiac output, and longitudinal strain. Among CMR variables, extracellular volume (ECV) was most strongly associated with all-cause mortality. In multivariate Cox models, including Mayo Clinic staging, ECV ≥ 0.45 was independently associated with mortality (HR 2.36, CI 95% 1.47-5.60) and also with heart failure hospitalizations (HR 4.10, 95%CI 2.15-8.8).</p><p><strong>Conclusion: </strong>ECV is a powerful predictor of outcomes in AL CA, providing additional prognostic value on top of Mayo Clinic staging.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-8"},"PeriodicalIF":5.2,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331813","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}

{"title":"Refining prognostication in systemic AL amyloidosis: limited value of dFLC.","authors":"Jahanzaib Khwaja, Sriram Ravichandran, Joshua Bomsztyk, Oliver Cohen, Darren Foard, Ana Martinez-Naharro, Lucia Venneri, Marianna Fontana, Carol Whelan, Philip N Hawkins, Julian D Gillmore, Helen J Lachmann, Shameem Mahmood, Ashutosh Wechalekar","doi":"10.1080/13506129.2024.2406845","DOIUrl":"https://doi.org/10.1080/13506129.2024.2406845","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-3"},"PeriodicalIF":5.2,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300193","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}

{"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":"https://doi.org/10.1080/13506129.2024.2398446","url":null,"abstract":"<p><strong>Background: </strong>Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure (HF).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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%) <i>vs.</i> other regions (9% Asia; 5% North America); at specialist vs non-specialist centres (26% <i>vs.</i> 11%); in males <i>vs.</i> females (24% <i>vs.</i> 10%); and in older <i>vs</i>. younger patients (e.g. >40% among those ≥85 years). Other risk markers (<i>p</i><.05) included a history of carpal tunnel syndrome, higher N-terminal pro B-type natriuretic peptide concentration, and higher end-diastolic IVST.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-11"},"PeriodicalIF":5.2,"publicationDate":"2024-09-08","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}

{"title":"No body fits in the test tube - the case of transthyretin.","authors":"Seweryn Ulaszek, Barbara Wiśniowska, Bartek Lisowski","doi":"10.1080/13506129.2024.2401154","DOIUrl":"https://doi.org/10.1080/13506129.2024.2401154","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-3"},"PeriodicalIF":5.2,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156571","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}

{"title":"T2-relaxometry in a large cohort of hereditary transthyretin amyloidosis with polyneuropathy.","authors":"Anysia Poncelet, Ute Hegenbart, Stefan O Schönland, Georges Sam, Jan C Purrucker, Ernst Hund, Fabian Aus dem Siepen, Kira Göldner, John M Hayes, Sabine Heiland, Martin Bendszus, Markus Weiler, Jennifer C Hayes","doi":"10.1080/13506129.2024.2398453","DOIUrl":"https://doi.org/10.1080/13506129.2024.2398453","url":null,"abstract":"<p><strong>Background: </strong>Previously, T2-relaxation time (T2_app) and proton spin density (ρ) detected nerve injury in a small group of ATTRv amyloidosis. Here, we aim to quantify peripheral nerve impairment in a large cohort of symptomatic and asymptomatic ATTRv amyloidosis and correlate T2-relaxometry markers with clinical parameters and nerve conduction studies (NCS).</p><p><strong>Methods: </strong>Eighty participants with pathologic variants of the <i>transthyretin</i> gene (<i>TTRv</i>) and 40 controls prospectively underwent magnetic resonance neurography. T2-relaxometry was performed, allowing to calculate tibial ρ, T2_app and cross-sectional-area (CSA). Detailed clinical examinations and NCS of tibial and peroneal nerves were performed.</p><p><strong>Results: </strong>Forty participants were classified as asymptomatic <i>TTRv</i>-carriers, 40 as symptomatic patients with polyneuropathy. ρ, T2_app and CSA were significantly higher in symptomatic ATTRv amyloidosis (484.2 ± 14.8 a.u.; 70.6 ± 1.8 ms; 25.7 ± 0.9 mm²) versus <i>TTRv-</i>carriers (413.1 ± 9.4 a.u., <i>p</i> < 0.0001; 62.3 ± 1.3 ms, <i>p</i> = 0.0002; 19.0 ± 0.8 mm², <i>p</i> < 0.0001) and versus controls (362.6 ± 7.5 a.u., <i>p</i> < 0.0001; 59.5 ± 1.0 ms, <i>p</i> < 0.0001; 15.4 ± 0.5 mm², <i>p</i> < 0.0001). Only ρ and CSA differentiated <i>TTRv-</i>carriers from controls. ρ and CSA correlated with NCS in <i>TTRv</i>-carriers, while T2_app correlated with NCS in symptomatic ATTRv amyloidosis. Both ρ and T2_app correlated with clinical score.</p><p><strong>Conclusion: </strong>ρ and CSA can detect early nerve injury and correlate with electrophysiology in asymptomatic <i>TTRv</i>-carriers. T2_app increases only in symptomatic ATTRv amyloidosis in whom it correlates with clinical scores and electrophysiology. Our results suggest that T2-relaxometry can provide biomarkers for disease- and therapy-monitoring in the future.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-9"},"PeriodicalIF":5.2,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121105","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}

{"title":"Patient-reported satisfaction with telemedicine in light chain (AL) amyloidosis care.","authors":"Idayat Akinola, Kathryn E Flynn, Aniko Szabo, Muriel Finkel, Anita D'Souza","doi":"10.1080/13506129.2024.2344160","DOIUrl":"10.1080/13506129.2024.2344160","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"235-237"},"PeriodicalIF":5.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}