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

Right ventricular-pulmonary arterial coupling and outcomes in cardiac amyloidosis: systematic review and meta-analysis. 右心室-肺动脉耦合和心脏淀粉样变性的结局：系统回顾和荟萃分析。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-06-04 DOI: 10.1080/13506129.2025.2512751

Panagiotis Theofilis, Evangelos Oikonomou, Paschalis Karakasis, Athanasios Sakalidis, Panayotis K Vlachakis, Konstantinos Pamporis, Emmanouil Mantzouranis, Panteleimon Pantelidis, Kyriakos Dimitriadis, Konstantinos Tsioufis, Dimitris Tousoulis

引用次数: 0

Cardiac amyloidosis after lumbar spinal stenosis surgery - a comprehensive prospective cohort study. 腰椎管狭窄手术后的心脏淀粉样变性——一项全面的前瞻性队列研究。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-03-25 DOI: 10.1080/13506129.2025.2481310

Per Eldhagen, Antonios Tzortzakakis, Lars H Lund, Liselott Söderström, Svante Berg, Per Westermark, Peder Sörensson

{"title":"Cardiac amyloidosis after lumbar spinal stenosis surgery - a comprehensive prospective cohort study.","authors":"Per Eldhagen, Antonios Tzortzakakis, Lars H Lund, Liselott Söderström, Svante Berg, Per Westermark, Peder Sörensson","doi":"10.1080/13506129.2025.2481310","DOIUrl":"10.1080/13506129.2025.2481310","url":null,"abstract":"Background: Wild-type transthyretin (ATTRwt) amyloidosis is underdiagnosed and generally diagnosed with manifest cardiac involvement. Lumbar spinal stenosis (LSS) might be an early sign of systemic transthyretin amyloidosis and a possible screening target for early diagnosis.Objectives: To assess the prevalence of cardiac amyloidosis (CA) 6 years post-LSS surgery, among patients with transthyretin amyloid deposits in ligamentum flavum.Methods: Twenty-one patients who had surgery for LSS in 2016-2018 and grade 3-4 ATTR amyloid deposits in ligamentum flavum were followed up in 2022-2023, including biomarkers, echocardiography, cardiac magnetic resonance (CMR) and nuclear imaging.Results: At follow-up, median age was 79 years, 16% (3/19) displayed cardiac uptake on scintigraphy consistent with ATTR-CA. Forty-eight percent (10/21) had a history of other tenosynovial conditions associated with ATTRwt. We observed a small increase in tissue characteristics using CMR, and a decrease in left ventricular global longitudinal strain and left atrial strain on echocardiography.Conclusions: In this prospective cohort study, 16% were diagnosed with ATTRwt cardiomyopathy, six years following surgery for LSS. History of other tenosynovial conditions associated with ATTRwt amyloidosis was common. These findings strengthen the hypothesis that LSS is a possible manifestation of ATTRwt amyloidosis and that in selected patients with LSS, cardiac follow-up is of value.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"218-225"},"PeriodicalIF":7.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711936","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

Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapy. ATTRv的早期心血管自主功能衰竭预示预后不良，可能对疾病改善治疗有反应。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-04-24 DOI: 10.1080/13506129.2025.2494657

Laura Sander, Giacomo Chiaro, Domenico Abelardo, Angelo Torrente, Gordon T Ingle, Patricia McNamara, Laura Watson, Carol J Whelan, Julian D Gillmore, Mary M Reilly, Christopher J Mathias, Valeria Iodice

{"title":"Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapy.","authors":"Laura Sander, Giacomo Chiaro, Domenico Abelardo, Angelo Torrente, Gordon T Ingle, Patricia McNamara, Laura Watson, Carol J Whelan, Julian D Gillmore, Mary M Reilly, Christopher J Mathias, Valeria Iodice","doi":"10.1080/13506129.2025.2494657","DOIUrl":"10.1080/13506129.2025.2494657","url":null,"abstract":"Background: Hereditary transthyretin amyloidosis (ATTRv) is a life-threatening, but treatable disease presenting with autonomic dysfunction. This study investigates the progression of autonomic failure, response to treatment, and the impact of autonomic failure in ATTRv.Methods: Clinical features and autonomic function test (AFT) results were evaluated in 126 patients (40 had treatment) and 12 asymptomatic TTR variant carriers. A subgroup had follow-up (FU) AFT. Kaplan-Meier estimates compared survival time between participants with and without neurogenic orthostatic hypotension (nOH), and logistic regression assessed its impact on mortality.Results: Patients treated early with disease modifying therapies (DMT) had slower progression and did not develop nOH. In 59 individuals with repeat AFT, autonomic dysfunction worsened, with a decline in the Valsalva ratio (p = 0.002), even in early-stage disease (p = 0.019; median disease duration at FU 4 years). nOH at first assessment predicted worse outcome (mean survival time in individuals with nOH 7.0 vs. 14.9 years without nOH, p < 0.001) and death (OR = 5.27; 95%CI: 1.94 - 14.31; p = 0.001).Conclusions: The early development of autonomic dysfunction and nOH is an independent predictive factor for shorter survival in ATTRv. Autonomic testing is a valuable biomarker to capture disease progression. Prospective studies need to confirm the benefit of DMT on autonomic dysfunction.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"246-254"},"PeriodicalIF":7.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042715","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

Hepatic involvement in light chain amyloidosis: analysis of 130 patients and predictors of hepatic response and survival. 轻链淀粉样变累及肝脏：130例患者的分析及肝脏反应和生存的预测因素。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-06-12 DOI: 10.1080/13506129.2025.2516790

Matthew J Rees, Nadia Toumeh, Angela Dispenzieri, Morie Gertz, Binoy Yohannan, Suheil Albert Atallah-Yunes, Prashant Kapoor, Taxiarchis Kourelis, Nelson Leung, Suzanne Hayman, Francis Buadi, David Dingli, Joselle Cook, Rahma Warsame, Moritz Binder, Wilson Gonsalves, S Vincent Rajkumar, Shaji Kumar, Eli Muchtar

{"title":"Hepatic involvement in light chain amyloidosis: analysis of 130 patients and predictors of hepatic response and survival.","authors":"Matthew J Rees, Nadia Toumeh, Angela Dispenzieri, Morie Gertz, Binoy Yohannan, Suheil Albert Atallah-Yunes, Prashant Kapoor, Taxiarchis Kourelis, Nelson Leung, Suzanne Hayman, Francis Buadi, David Dingli, Joselle Cook, Rahma Warsame, Moritz Binder, Wilson Gonsalves, S Vincent Rajkumar, Shaji Kumar, Eli Muchtar","doi":"10.1080/13506129.2025.2516790","DOIUrl":"10.1080/13506129.2025.2516790","url":null,"abstract":"Organ response is key to improving outcomes in light chain (AL) amyloidosis. We investigated factors associated hepatic response (HepR) in a large cohort of patients with hepatic AL amyloidosis.Methods: Retrospective study of newly-diagnosed AL amyloidosis patients (n = 130) with liver involvement evaluated at the Mayo Clinic between 2000-2021. Patients were eligible if they had documented liver involvement and baseline alkaline phosphatase (ALP)≥1.5x upper limit of normal (ULN). HepR was defined as >50% reduction in ALP from baseline or ALP normalization. HepRs were assessed at 6, 12, 24 month after treatment initiation and the best HepR at any time point.Results: The median baseline ALP was 2.88-fold the ULN (ALP:ULN, IQR: 2.15-4.41), and the median bilirubin was 0.7 mg/dL. HepR rates increased with time from 28% at 6 months, 36% at 12 months and 48% at 24 months. The median time to HepR was 21.5 months (95%CI = 15.4-29.5). Baseline ALP ≥ 4xULN consistently predicted HepR across all time points. Hematological response (HemR) also independently predicted HepR at 12, 24 months and best response. At best hepatic response, kappa isotype, and front-line ASCT were further independent predictors of HepR.Conclusions: The degree of baseline ALP elevation and HemR are reliable predictors of HepR.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"267-275"},"PeriodicalIF":7.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287033","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

Unmasking the silent culprit: the elusive phenotypes of hereditary β2-microglobulin amyloidosis. 揭开沉默的罪魁祸首：遗传性β2-微球蛋白淀粉样变的难以捉摸的表型。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-05-05 DOI: 10.1080/13506129.2025.2500347

Eduardo Boiteux Uchôa Cavalcanti, Savana Camilla de Lima Santos, Heveline Becker de Moura, Osvaldo Moreira do Nascimento

引用次数: 0

Prognostic impact of cardiac resynchronization therapy in wild-type transthyretin amyloid cardiomyopathy. 心脏再同步化治疗对野生型转甲状腺蛋白淀粉样心肌病预后的影响。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-05-25 DOI: 10.1080/13506129.2025.2504443

Ojasav Sehrawat, Konstantinos C Siontis, Nicholas Tan, Maren Maanja, Choudhary A Chahal, David Hodge, Wayne L Miller, Angela Dispenzieri, Peter A Noseworthy, Grace Lin

引用次数: 0

ATTRV30M amyloidosis post-liver transplant: cognition and long-term survival. 肝移植后ATTRV30M淀粉样变：认知和长期生存。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-04-10 DOI: 10.1080/13506129.2025.2487822

Sara Cavaco, Ana Martins da Silva, Joana Fernandes, Ana Paula Sousa, Cristina Alves, Márcio Neves Cardoso, Armando Teixeira-Pinto, Teresa Coelho

{"title":"ATTRV30M amyloidosis post-liver transplant: cognition and long-term survival.","authors":"Sara Cavaco, Ana Martins da Silva, Joana Fernandes, Ana Paula Sousa, Cristina Alves, Márcio Neves Cardoso, Armando Teixeira-Pinto, Teresa Coelho","doi":"10.1080/13506129.2025.2487822","DOIUrl":"10.1080/13506129.2025.2487822","url":null,"abstract":"Background: Patients with hereditary amyloidosis related to transthyretin (ATTRv amyloidosis) treated with liver transplant (LTx) often have central nervous system (CNS) manifestations, including cognitive dysfunction. The aim of this study was to explore the long-term outcome associated with neuropsychological test performance.Methods: A retrospective longitudinal review was conducted in a cohort of 289 ATTRv amyloidosis patients with the Val30Met mutation (ATTRV30M amyloidosis) who underwent a neuropsychological assessment (T1) 1-23 years (median = 11) post-LTx and 20-189 months (median = 81) prior to the study review. Clinical records were reviewed. The Kaplan-Meier and Cox regression methods were used to estimate survival and adjusted hazard ratios for all-cause mortality.Results: Impaired performance on Dementia Rating Scale-2, Semantic Fluency, Phonemic Fluency and Trail Making Test Part B were predictive of shorter survival after neuropsychological assessment, even when demographic and clinical variables (i.e. education, age at disease onset <math><mrow><mo>≥</mo></mrow></math>50, disease duration at LTx, interval between LTx and T1, age at T1, Modified Polyneuropathy Disability score at T1, and history of focal neurological episodes at T1) were taken into account. Measures of verbal learning and memory were not predictive of mortality.Conclusions: Study results demonstrate that cognitive impairment in ATTRV30M amyloidosis patients treated with LTx predicts long-term survival.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"238-245"},"PeriodicalIF":7.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040272","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

Regarding the challenges of amyloidosis diagnosis and typing in Ukraine. 关于乌克兰淀粉样变诊断和分型的挑战。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-07-11 DOI: 10.1080/13506129.2025.2526542

Olesia O Kalmukova, Liudmyla M Surzhko, Ruth C Campbell, Daria V Ilatovskaya, Oleg Palygin, Valentyn N Nepomnyashchy

引用次数: 0

Prognostic role of cardiopulmonary exercise testing in wild-type transthyretin amyloid cardiomyopathy patients treated with tafamidis. 心肺运动试验对野生型转甲状腺蛋白淀粉样心肌病患者接受他法非地治疗的预后作用。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-08-20 DOI: 10.1080/13506129.2025.2547381

Tarun Dalia, Zafar Ali, Stefano H Byer, Rachel Holder, Shaden Daloub, Anureet Malhotra, Daniel Holtz, Tanner Robl, Zubair Shah

{"title":"Prognostic role of cardiopulmonary exercise testing in wild-type transthyretin amyloid cardiomyopathy patients treated with tafamidis.","authors":"Tarun Dalia, Zafar Ali, Stefano H Byer, Rachel Holder, Shaden Daloub, Anureet Malhotra, Daniel Holtz, Tanner Robl, Zubair Shah","doi":"10.1080/13506129.2025.2547381","DOIUrl":"https://doi.org/10.1080/13506129.2025.2547381","url":null,"abstract":"Objectives: Tafamidis has demonstrated survival benefits in transthyretin amyloid cardiomyopathy (ATTR-CM), yet variability in therapeutic response underscores the need for reliable tools to predict outcomes. This study evaluates the prognostic utility of cardiopulmonary exercise testing (CPET) in this population.Methods: This retrospective study included tafamidis treated wild-type (ATTRwt) CM patients who completed CPET. Univariable and multivariable Cox regression models were used to evaluate predictors of mortality and composite secondary endpoint (mortality and heart failure admissions).Results: Total of 105 ATTRwt-CM patients were enrolled with median age of 80 years. During median follow-up of 2.1 years, 33 (31%) died and 67 (63.8%) had composite outcome of mortality and heart failure hospitalisations. Multivariable analysis showed VE/VCO2 slope (HR 1.61 per SD, 95% CI: 1.13-2.30, p = 0.01), peak circulatory power [CP] (HR 0.43 per SD, 95% CI 0.21-0.89, p = 0.02), Mayo stage 3 (HR 5.34, 95% CI: 1.07-26.7, p = 0.04) were independent predictors of mortality. The VE/VCO2 slope (HR 1.57 per SD, 95% CI 1.2, 2.05, p= <0.01), creatinine (HR 1.37 per SD, 95% CI 1.07, 1.76, p = 0.01) and Mayo stage 3 (HR 2.49, 95% CI 1.10, 5.66, p = 0.03) were independent predictors of composite outcome.Conclusions: CPET provides prognostic insights for ATTRwt-CM patients in addition to known prognostic laboratory factors.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-9"},"PeriodicalIF":7.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977620","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 : 2025-08-13 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":"https://doi.org/10.1080/13506129.2025.2544926","url":null,"abstract":"Background: 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.Methods: 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.Results: 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, p = .024). Subscore analysis showed the sensory component as the main driver (OR = 1.205, p = .015). QST variables differed by pain presence but not intensity.Conclusion: 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.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-8"},"PeriodicalIF":7.4,"publicationDate":"2025-08-13","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