Amyloid-Journal of Protein Folding Disorders最新文献_第2页

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

ELISA-4-amyloid: diagnostic accuracy of an ELISA panel for typing the four main types of systemic amyloidosis in subcutaneous abdominal fat tissue samples. ELISA-4-淀粉样蛋白：对腹部皮下脂肪组织样本中四种主要类型的系统性淀粉样变进行分型的 ELISA 面板诊断准确性。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-08-06 DOI: 10.1080/13506129.2024.2385977

Johan Bijzet, Hans L A Nienhuis, Bart-Jan Kroesen, Arjan Diepstra, Bouke P C Hazenberg

{"title":"ELISA-4-amyloid: diagnostic accuracy of an ELISA panel for typing the four main types of systemic amyloidosis in subcutaneous abdominal fat tissue samples.","authors":"Johan Bijzet, Hans L A Nienhuis, Bart-Jan Kroesen, Arjan Diepstra, Bouke P C Hazenberg","doi":"10.1080/13506129.2024.2385977","DOIUrl":"10.1080/13506129.2024.2385977","url":null,"abstract":"Background: Reliable typing of amyloid is essential. Amyloid extraction from tissue enables immunochemical typing of the precursor protein using an enzyme-linked immunosorbent assay (ELISA).Objective: To assess the diagnostic accuracy of a panel of ELISAs for typing the four main types (AA, ATTR, AL-kappa and AL-lambda amyloid).Methods: From 1996 to 2023 subcutaneous abdominal fat tissue aspirates were obtained from 1339 amyloidosis patients and 868 controls. Amyloid was visually graded 0-4+ in Congo red-stained smears. Amyloid extracted from tissue by Guanidine was typed using a panel comprising four ELISAs.Results: All amyloid protein concentrations in extracts correlated with amyloid grade in smears. Typing sensitivity was low (23.3%) in samples with grade 1+/2+ amyloid. Overall typing sensitivity of the panel was 81.6% for all easily visible amyloid (grade 3+/4+): high for AA (98.8%) and ATTR (96.8%) and fair for AL-kappa (66.7%) and AL-lambda (75.9). Overall typing specificity was 98.0% and the overall positive predictive value was 98.0%.Conclusions: We describe a highly specific ELISA panel for routine typing of the main amyloid types in fat tissue. Until more sensitive typing techniques will become generally available, typing easily visible amyloid in fat tissue using this ELISA panel is reliable, affordable and straightforward.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"275-284"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894818","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 molecular insights into A97S variants in hereditary transthyretin amyloid polyneuropathy in South China. 华南地区遗传性转甲状腺素淀粉样多发性神经病A97S变体的临床和分子研究。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-07-31 DOI: 10.1080/13506129.2024.2383467

Qingping Wang, Mengdie Wang, Xiying Zhu, Lei Liu, Mengli Wang, Jialu Sun, Xiaobo Li, Shunxiang Huang, Wanqian Cao, Yu Liu, Ruxu Zhang

{"title":"Clinical and molecular insights into A97S variants in hereditary transthyretin amyloid polyneuropathy in South China.","authors":"Qingping Wang, Mengdie Wang, Xiying Zhu, Lei Liu, Mengli Wang, Jialu Sun, Xiaobo Li, Shunxiang Huang, Wanqian Cao, Yu Liu, Ruxu Zhang","doi":"10.1080/13506129.2024.2383467","DOIUrl":"10.1080/13506129.2024.2383467","url":null,"abstract":"Objective: This study aims to delineate the clinical profiles of the hereditary transthyretin amyloid polyneuropathy (ATTRv-PN) patients with A97S variant from southern China and the molecular characteristics of this mutant protein.Methods: Fifteen ATTRv-PN patients with heterozygous A97S and one patient with homozygous A97S were included in the study. Serum TTR tetramer concentration was quantified through ultra-performance liquid chromatography. Stabilities of A97S-TTR were assessed through in vitro urea-mediated tryptophan fluorescence experiments, and nephelometry was employed in drug response assessment.Results: All patients were late-onset (≥50 years) with a mean age of onset at 59.26 ± 5.06 years old. Patients displayed a mixed phenotype featuring sensory-motor neuropathy with autonomic dysfunction and cardiac involvement, such as palpitations and chest pain. Electrophysiological studies showed generally axonal impairment of sensory and motor nerves. Tafamidis-treated patients showed significantly higher TTR tetramer concentrations, approaching healthy controls' levels. In vitro assessment showed that A97S-TTR was more kinetically stable than the V122I-TTR, and tetramer stabilisers inhibited A97S-TTR amyloid formation by more than 70%.Conclusion: This study provides valuable insights into the clinical and molecular characteristics of ATTRv-PN patients with A97S from South China, particularly regarding the differences in disease progression and stability features.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"266-274"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857051","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

Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis - correlation between neurofilament light chain and nerve conduction study. 神经丝蛋白轻链作为遗传性ATTR淀粉样变性病的生物标志物--神经丝蛋白轻链与神经传导研究之间的相关性。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-12-01 Epub Date: 2024-10-08 DOI: 10.1080/13506129.2024.2409760

Masateru Tajiri, Mitsuto Sato, Minori Kodaira, Akira Matsushima, Yusuke Mochizuki, Yusuke Takahashi, Ken Takasone, Emre Aldinc, Simina Ticau, Gang Jia, Yoshiki Sekijima

{"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":"10.1080/13506129.2024.2409760","url":null,"abstract":"Background: 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.Objective: Elucidate the correlation between NfL and NCS parameters.Methods: 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.Results: 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.Conclusions: 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.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"326-333"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","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}

引用次数: 0