Amyloid-Journal of Protein Folding Disorders最新文献_第10页

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：巴利阿里群岛作为高流行创始人的焦点。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-10-21 DOI: 10.1080/13506129.2025.2573227

Marc Ventayol-Guirado, Eugenia Cisneros-Barroso, Maria Antonia Ribot-Sansó, Juan González-Moreno, Inés Losada, Tomás Ripoll-Vera, Jaume Pons, Elena Fortuny, Teresa Bosch, Antonio Figuerola, Cristina Descals, Joan Carles Montala, Jorge Álvarez-Rubio, Jessica Hernández-Rodríguez, José Lustre-Rodríguez, María Victoria Llull-Alberti, Juan Antonio Jiménez-Barceló, Víctor José Asensio-Landa, Laura Torres-Juan, Icíar Martínez-López, Juan Buades-Reines, Damián Heine-Suñer

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 : 2025-12-01 Epub 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":"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":"352-360"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","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

Enhanced analytic methodology enables postmortem diagnosis of hereditary AApoAI amyloidosis. 改进的分析方法使死后诊断遗传性AApoAI淀粉样变。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-06-12 DOI: 10.1080/13506129.2025.2515938

Jeanne L Theis, Linda Hasadsri, Surendra Dasari, Jason D Theis, Julie A Vrana, Mckinzie Johnson, Meghan Driscoll, Ellen D McPhail, Karen L Rech

引用次数: 0

Hereditary transthyretin amyloidosis with cardiomyopathy and polyneuropathy associated with a novel pathogenic TTR Tyr105His (p.Tyr125His) mutation. 遗传性转甲状腺蛋白淀粉样变性合并心肌病和多神经病变与一种新的致病性TTR Tyr105His （p.t r125his）突变相关。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-08-06 DOI: 10.1080/13506129.2025.2543815

Masahiro Nakamori, Keisuke Tachiyama, Naoe Matsumura, Akemi Hironaka, Yuji Muraoka, Toshiro Kitagawa, Masayoshi Tasaki, Shiori Yamakawa, Mitsuharu Ueda, Hirofumi Maruyama

引用次数: 0

Single-slide detection and typing of AL renal amyloidosis: combining mass spectrometry imaging and digital pathology. AL肾淀粉样变的单片检测和分型：结合质谱成像和数字病理学。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-07-26 DOI: 10.1080/13506129.2025.2530532

Greta Bindi, Giorgio Cazzaniga, Federico Alberici, Federica Mescia, Mauro Mannino, Alice Maggioni, Stefania Galimberti, Giulia Capitoli, Simona Fisogni, Fulvio Magni, Fabio Pagni, Andrew Smith, Vincenzo L'Imperio

{"title":"Single-slide detection and typing of AL renal amyloidosis: combining mass spectrometry imaging and digital pathology.","authors":"Greta Bindi, Giorgio Cazzaniga, Federico Alberici, Federica Mescia, Mauro Mannino, Alice Maggioni, Stefania Galimberti, Giulia Capitoli, Simona Fisogni, Fulvio Magni, Fabio Pagni, Andrew Smith, Vincenzo L'Imperio","doi":"10.1080/13506129.2025.2530532","DOIUrl":"https://doi.org/10.1080/13506129.2025.2530532","url":null,"abstract":"Background: Amyloid typing, particularly in monoclonal gammopathies of renal significance, can be technically challenging. Matrix-Assisted Laser Desorption/Ionisation-Mass Spectrometry Imaging (MALDI-MSI) has been proposed as a non-destructive method to detect and type amyloid deposits on a single tissue slide. This study aims to confirm this capability of MALDI-MSI in renal light chain amyloidosis (AL amyloidosis), irrespective of the fixative utilised, confronting results with other traditional and upcoming methods for amyloid detection.Methodology: MALDI-MSI was applied to 15 renal biopsies diagnosed with AL amyloidosis. Results were compared with the routinely utilised methods of amyloid detection and typing, respectively, the pathologist's evaluation and immunofluorescence (IF) and additionally with a computational technique for amyloid detection, SPADA (Streamlined Pipeline for Amyloid Detection through Congo red fluorescence digital Analysis).Results: MALDI-MSI demonstrated an agreement of 85.0% and 86.4% with SPADA and the pathologist in detecting glomerular deposits. It also showed complementary potential with SPADA, suggesting the possibility of combining all methodologies on a single tissue slide. Furthermore, MALDI-MSI showed a complete agreement with IF in amyloid typing.Conclusion: This study confirmed the capability of MALDI-MSI to detect and type AL amyloidosis, assessing the possibility to integrate an additional computational method for amyloid detection on a single tissue slide.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":"32 4","pages":"335-343"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145598156","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

Impact of autonomic dysfunction in light chain amyloidosis patient with nephrotic syndrome and cardiac involvement. 轻链淀粉样变合并肾病综合征及累及心脏患者自主神经功能障碍的影响。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-08-11 DOI: 10.1080/13506129.2025.2540785

Hamza Sakhi, Amira Zaroui, Mounira Kharoubi, Romain Gounot, Karim Belhadj, Etienne Charbonneau, Soulef Guendouz, Silvia Oghina, Julie Oniszczuk, Nizar Joher, Anissa Moktefi, Elsa Poullot, Thibaud Damy, Vincent Audard

引用次数: 0

Impact of autonomic dysfunction on cardiovascular outcomes among patients with ATTR cardiomyopathy: insights from the COMPASS-31. 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 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-12-01 Epub Date: 2025-06-28 DOI: 10.1080/13506129.2025.2524619

Ariel Weinsaft, Sergio Teruya, Alfonsina Mirabal Santos, Stephen Helmke, Karan Wats, Juliana Levy, Dimitrios Bampatsias, Mathew S Maurer

{"title":"Impact of autonomic dysfunction on cardiovascular outcomes among patients with ATTR cardiomyopathy: insights from the COMPASS-31.","authors":"Ariel Weinsaft, Sergio Teruya, Alfonsina Mirabal Santos, Stephen Helmke, Karan Wats, Juliana Levy, Dimitrios Bampatsias, Mathew S Maurer","doi":"10.1080/13506129.2025.2524619","DOIUrl":"10.1080/13506129.2025.2524619","url":null,"abstract":"Background: ATTR is a systemic disease, causing significant morbidity and mortality, manifesting with symptoms affecting both the heart and nervous system. This study employed the Composite Autonomic Symptom Scale 31 (COMPASS-31) to assess autonomic symptoms in relation to ATTR-CM subtypes and the impact of dysfunction on prognosis.Methods: This study included contemporary ATTR-CM patients enrolled in an institutional registry from 7/21-6/24. Demographic information, patient-reported outcomes (COMPASS-31 and Kansas City Cardiomyopathy Questionnaire (KCCQ)), 6-min walk test, and clinical data (hospitalisations, mortality) were collected and compared between ATTR-CM sub-types (ATTRwt, ATTRv-Val122Ile, ATTRv-non Val122Ile).Results: 240 ATTR-CM patients (81% ATTRwt, 11% Val-122Ile, 8% non-Val122Ile) were studied. Following adjustment for age, significant COMPASS-31 score differences were observed between ATTRwt and ATTRv-nonV122I variant patients. \"High\" COMPASS-31 scores (≥35.42) were associated with later Columbia stage, lower exercise tolerance, and poorer quality of life (QOL) (all p < 0.05). Time-to-event analysis demonstrated higher probability of cardiovascular hospitalisations (CVH) for patients with \"High\" COMPASS-31 scores (p < 0.01). These patients also had increased CVH risk (HR = 4.26 [95% CI: 1.85-9.83], p = 0.001) independent of age, sex, ATTR type, Columbia Stage and diabetes.Conclusions: Among ATTR-CM patients, autonomic dysfunction assessed via COMPASS-31 questionnaire was associated with more advanced disease stage and QOL impairment, and independently predicted CVH risk.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"314-323"},"PeriodicalIF":5.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530955","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}

引用次数: 0

A prospective study of small fiber neuropathy in AL amyloidosis. AL淀粉样变性患者小纤维神经病变的前瞻性研究。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-05-07 DOI: 10.1080/13506129.2025.2500364

Chrysanthi Bountziouka, Despina Fotiou, Foteini Theodorakakou, Asimina Papanikolaou, Maria Gavriatopoulou, Evangelos Terpos, Meletios A Dimopoulos, Efstathios Kastritis, Panagiotis Kokotis

{"title":"A prospective study of small fiber neuropathy in AL amyloidosis.","authors":"Chrysanthi Bountziouka, Despina Fotiou, Foteini Theodorakakou, Asimina Papanikolaou, Maria Gavriatopoulou, Evangelos Terpos, Meletios A Dimopoulos, Efstathios Kastritis, Panagiotis Kokotis","doi":"10.1080/13506129.2025.2500364","DOIUrl":"10.1080/13506129.2025.2500364","url":null,"abstract":"The peripheral nervous system (PNS) is commonly affected in immunoglobulin light chain amyloid protein (AL) amyloidosis. PNS involvement and particularly small fiber neuropathy (SFN) is often clinically underestimated, requiring a standardized approach for comprehensive assessment. We prospectively evaluated the prevalence and clinical significance of SFN in 81 patients with newly diagnosed AL amyloidosis using clinical examination, nerve conduction studies (NCSs), quantitative sensory testing (QST) examination and distal-leg skin biopsy. Neuropathy was detected in 89% of patients and SFN in 65%. Combined small and large fiber neuropathy was seen in 48.1%, pure large fiber neuropathy in 20% and pure SNF in 10%. Older age was a significant risk factor for SFN (OR 1.06, 95% CI 1.01-1.12, p = .014); patients with SFN were also more likely to have soft tissue involvement (OR 7.1, 95% CI 1.5-33.4, p = .013). After a median follow-up of 37.5 months, SFN was associated with poorer overall survival (OS) and it emerged as an independent prognostic factor for early mortality (<12 months) in multivariate analysis (HR 4.3 95% CI 1.23-15.04, p = .023). Our study demonstrates the high prevalence and clinical significance of SFN as an adverse factor for survival and indicates the need for multiparametric neurological evaluation in patients with AL amyloidosis at diagnosis.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"211-217"},"PeriodicalIF":7.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056598","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

Men and women differ with regard to the prevalence, phenotype, and prognosis of wild-type transthyretin amyloid cardiomyopathy. 男性和女性在野生型转甲状腺蛋白淀粉样心肌病的患病率、表型和预后方面存在差异。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-05-27 DOI: 10.1080/13506129.2025.2507921

Amira Zaroui, Charlotte Lafont, Mounira Kharoubi, Etienne Audureau, Mélanie Bézard, Mouna Hentati, Gagan Deep Singh Chadha, Emmanuel Teiger, Emmanuel Itti, Nicolas Lellouche, Soraya Fellahi, Amaury Broussier, Florence Canoui-Poitrine, Thibaud Damy

{"title":"Men and women differ with regard to the prevalence, phenotype, and prognosis of wild-type transthyretin amyloid cardiomyopathy.","authors":"Amira Zaroui, Charlotte Lafont, Mounira Kharoubi, Etienne Audureau, Mélanie Bézard, Mouna Hentati, Gagan Deep Singh Chadha, Emmanuel Teiger, Emmanuel Itti, Nicolas Lellouche, Soraya Fellahi, Amaury Broussier, Florence Canoui-Poitrine, Thibaud Damy","doi":"10.1080/13506129.2025.2507921","DOIUrl":"10.1080/13506129.2025.2507921","url":null,"abstract":"Background: We explored sex differences in wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) and determined survival and prognostic factors.Methods: In a retrospective cohort study at a reference centre in France from 1 January 2008 to 31 December 2022, multiple regression analyses, supervised clustering, Cox models, and a Kaplan-Meier analysis were used to compare women and men in each age quartile (Q1: ≤77 years; Q2: 78-82; Q3: 83-86; Q4 > 86).Results: We included 1062 patients with ATTRwt-CM (180 women, 16%). The women had a higher median [IQR] left ventricular ejection fraction (LVEF; 52% [45-60] vs. 50 [43-58] in men) and a thinner interventricular septum. 12% of women and 4.1% of men had a septum thickness <12 mm (p = 0.004). The women in Q1 had lower LVEF and global longitudinal strain values and a higher prevalence of a septum <12 mm (15.8%, vs 2.0% in men) than men and older women (Q2-Q3-Q4). Women had a greater risk of sudden death than men (13.8% vs. 4.6%, respectively; odds ratio [95% confidence interval]: 3.24 [1.56-6.64]; p = 0.001).Conclusions: In women, the ATTRwt-CM phenotype and prognosis are related to age at diagnosis. Decreasing the septum thickness cut-off would increase the frequency of ATTR-CM diagnosis in women.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"255-266"},"PeriodicalIF":7.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152843","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

Previous total knee or total hip arthroplasty and association with amyloidosis - a Danish nationwide study. 既往全膝关节或全髋关节置换术与淀粉样变性的关系——丹麦的一项全国性研究。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-09-01 Epub Date: 2025-04-24 DOI: 10.1080/13506129.2025.2495168

Navid Noory, Eva Havers-Borgersen, Oscar Westin, Mathew S Maurer, Lars Køber, Finn Gustafsson, Emil Fosbøl

引用次数: 0