Amyloid-Journal of Protein Folding Disorders最新文献

Multiple musculoskeletal procedures over time and the risk of amyloidosis: a Danish nationwide cohort study. 随着时间的推移，多种肌肉骨骼手术和淀粉样变的风险：丹麦全国队列研究。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-10-20 DOI: 10.1080/13506129.2026.2748887

Navid Noory, Peter L Graversen, Eva Havers-Borgersen, Oscar Westin, Mathew S Maurer, Kasper Rossing, Lars Køber, Finn Gustafsson, Emil Fosbøl

引用次数: 0

Full-length light chain sequencing refocuses attention on the constant domain in AL amyloidosis. 全长轻链测序将注意力重新集中在AL淀粉样变性的恒定结构域上。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-10-15 DOI: 10.1080/13506129.2026.2747712

Luis Del Pozo-Yauner

引用次数: 0

Childhood onset, indolent progression, and risk of hepatic rupture: the natural history of hereditary lysozyme amyloidosis. 儿童期发病、缓慢进展和肝破裂风险：遗传性溶菌酶淀粉样变的自然史。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-10-12 DOI: 10.1080/13506129.2026.2735580

Jack E Carruthers, Janet A Gilbertson, Dorota Rowczenio, David F Hutt, Oliver C Cohen, Shameem Mahmood, Ana Martinez-Naharro, Sriram Ravichandran, Carol Whelan, Ashutosh D Wechalekar, Philip N Hawkins, Marianna Fontana, Julian D Gillmore, Helen J Lachmann

{"title":"Childhood onset, indolent progression, and risk of hepatic rupture: the natural history of hereditary lysozyme amyloidosis.","authors":"Jack E Carruthers, Janet A Gilbertson, Dorota Rowczenio, David F Hutt, Oliver C Cohen, Shameem Mahmood, Ana Martinez-Naharro, Sriram Ravichandran, Carol Whelan, Ashutosh D Wechalekar, Philip N Hawkins, Marianna Fontana, Julian D Gillmore, Helen J Lachmann","doi":"10.1080/13506129.2026.2735580","DOIUrl":"https://doi.org/10.1080/13506129.2026.2735580","url":null,"abstract":"Background: Lysozyme amyloidosis (ALys) is a rare systemic amyloidosis caused by pathogenic variants in LYZ. We describe the natural history and outcomes for this disease in the largest cohort yet published.Methods: All patients diagnosed with ALys at the National Amyloidosis Centre between 1988 and 2025 were included. Diagnosis was established by immunohistochemistry or proteomics with the identification of a variant in LYZ. Trends in data were analysed longitudinally.Results: Thirty-five patients were included (median age: 45 years). Twenty-five (71%) carried the Asp67His (p.Asp85His) variant. Median age at symptom onset was 23.7 years, and 43% reported childhood symptoms. Sicca syndrome was the commonest presenting manifestation (46%), followed by gastrointestinal (GI) symptoms (23%). Renal involvement occurred in 57%. Eight developed kidney failure requiring renal replacement therapy. Six kidney transplants were performed with no amyloid recurrence. Liver involvement was present in 80%. Spontaneous hepatic rupture or haemorrhage occurred in five patients, necessitating emergency liver transplantation in four. GI bleeding occurred in 31%. Reproductive outcomes were successful in many patients.Conclusions: ALys is characterised by early symptom onset, indolent systemic progression, and risk of catastrophic hepatic or splenic rupture. These findings provide a framework for surveillance, transplantation planning, and future therapeutic studies.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-9"},"PeriodicalIF":5.1,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167746","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

Treatment of Waldenström macroglobulinemia associated with AL amyloidosis with teclistamab: a case report. 特司他抗治疗与AL淀粉样变性相关的Waldenström巨球蛋白血症1例。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-10-05 DOI: 10.1080/13506129.2026.2740737

Yang Liu, Yue Hu, Jingyi Bi, Lin Nie, Jin Lu

引用次数: 0

Emerging therapies and translational tools for drug development in systemic amyloidosis: insights from the International Society of Amyloidosis Scientific Workshop. 系统性淀粉样变性药物开发的新兴疗法和转化工具：来自国际淀粉样变性学会科学研讨会的见解。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-10-05 DOI: 10.1080/13506129.2026.2735581

Gareth J Morgan, Angela Dispenzieri, Jing Fu, Richard M Giadone, Jeffery W Kelly, Suzanne Lentzsch, Mathew S Maurer, Stefano Ricagno, Christophe Sirac, Ashutosh D Wechalekar

{"title":"Emerging therapies and translational tools for drug development in systemic amyloidosis: insights from the International Society of Amyloidosis Scientific Workshop.","authors":"Gareth J Morgan, Angela Dispenzieri, Jing Fu, Richard M Giadone, Jeffery W Kelly, Suzanne Lentzsch, Mathew S Maurer, Stefano Ricagno, Christophe Sirac, Ashutosh D Wechalekar","doi":"10.1080/13506129.2026.2735581","DOIUrl":"https://doi.org/10.1080/13506129.2026.2735581","url":null,"abstract":"Background: Amyloidosis is caused by deposition of misfolded proteins as amyloid fibrils in multiple organs. Over the past decade, disease-modifying therapies have markedly improved outcomes in both amyloid light-chain (AL) amyloidosis and amyloid transthyretin (ATTR) amyloidosis. Progress in AL amyloidosis has been driven by advances in plasma cell-directed therapies that suppress production of the precursor light chains. In ATTR amyloidosis, therapies target distinct phases of the amyloid cascade. The efficacy of multiple therapies that block production or misfolding of transthyretin has led to regulatory approvals. By contrast, limited efficacy has been observed to date with amyloid-targeting antibodies designed to clear existing amyloid deposits.Methods: This perspective article presents insights from experts representing the International Society of Amyloidosis reviewing current and emerging treatments for AL and ATTR amyloidosis, discussed at the 2025 Scientific Workshop.Results: Recent advances in research tools (animal and induced pluripotent stem cell (iPSC)-based models) are discussed as valuable approaches for disease modeling and preclinical evaluation of novel therapies. Lastly, the growing role of artificial intelligence in accelerating drug discovery in systemic amyloidosis is examined.Conclusions: Alongside recent successes and ongoing progress, there are key unmet needs and limitations that must be overcome to further improve patient outcomes.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-14"},"PeriodicalIF":5.1,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149118354","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

Cryo-EM reveals untwisted and non-periodic twist fibrils in ex vivo type B ATTRv-V30M fibrils. Cryo-EM显示体外B型ATTRv-V30M原纤维中未扭曲和非周期性扭曲原纤维。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-09-30 DOI: 10.1080/13506129.2026.2738161

Shumaila Afrin, Maria Del Carmen Fernandez-Ramirez, Binh An Nguyen, Saylor Schreiber, Barbara Kluve-Beckerman, Lorena Saelices

引用次数: 0

Frailty is a mortality risk factor in tafamidis-treated patients with transthyretin cardiac amyloidosis. 虚弱是他非他汀治疗的转甲状腺素型心脏淀粉样变性患者的死亡危险因素。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-09-10 DOI: 10.1080/13506129.2026.2729446

Amaury Broussier, Amira Zaroui, Mounira Kharoubi, Silvia Oghina, Charlotte Lafont, Marie Laurent, Nina Liu, Nathalie Marie-Nelly, Jean-Philippe David, Emmanuel Teiger, Sylvie Bastuji Garin, Thibaud Damy

{"title":"Frailty is a mortality risk factor in tafamidis-treated patients with transthyretin cardiac amyloidosis.","authors":"Amaury Broussier, Amira Zaroui, Mounira Kharoubi, Silvia Oghina, Charlotte Lafont, Marie Laurent, Nina Liu, Nathalie Marie-Nelly, Jean-Philippe David, Emmanuel Teiger, Sylvie Bastuji Garin, Thibaud Damy","doi":"10.1080/13506129.2026.2729446","DOIUrl":"https://doi.org/10.1080/13506129.2026.2729446","url":null,"abstract":"Background: ATTR-CM is a multisystemic disease whose prevalence increases with age and contributes to the development of frailty. However, the prognostic value of frailty assessment in ATTR-CM remains poorly documented. We evaluated whether frailty assessed using the Short Emergency Geriatric Assessment (SEGA) questionnaire independently predicts mortality in patients with ATTR-CM treated with tafamidis.Methods: We conducted a prospective study of patients consulting at the French Reference Center for Cardiac Amyloidosis between November 2018 and January 2021. Frailty was assessed using Part A of the SEGA score. Cox regression models evaluated the association between frailty and mortality.Results: A total of 410 patients with ATTR-CM were included (79% wild-type ATTR). Median age [IQR] was 81 [75-85] years and 21% were frail or very frail (SEGA score >8). Median follow-up was 2.3 years [1.7-3.1]. Frail patients had higher mortality than robust patients (36% vs 24%, p = 0.01). In multivariable analysis, frailty remained independently associated with mortality (HR 1.85, 95% CI 1.13-3.01). The inclusion of frailty improved model discrimination. Among SEGA domains, older age, need for assistance at home, and impaired functional and motor independence were significantly associated with mortality.Conclusions: Frailty assessed using the SEGA independently predicts mortality in ATTR-CM patients treated with tafamidis and improves prognostic stratification. It may also help identify potentially modifiable vulnerabilities warranting personalized multidisciplinary care.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-12"},"PeriodicalIF":5.1,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931735","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

Sodium-glucose cotransporter-2 inhibitor therapy and body composition analysis in transthyretin amyloid cardiomyopathy: a prospective, feasibility pilot study. 转甲状腺素淀粉样心肌病钠-葡萄糖共转运蛋白-2抑制剂治疗和体成分分析：一项前瞻性、可行性的初步研究。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-09-08 DOI: 10.1080/13506129.2026.2727117

Ani Nalbandian, Sergio Teruya, Dia Smiley, Stephen Helmke, Hirad Yarmohammadi, Margaret Cuomo, Jeffeny De Los Santos, Kimberly Mateo Collado, Maxine Ashby-Thompson, Wen W Yu, Alfonsina Mirabal Santos, Carlos Rodriguez, Denisse Santana Del Rosario, Elissa Driggin, Helene Maltz, Utpal Pajvani, Jai Radhakrishnan, Jonathan Barasch, Dympna Gallagher, Mathew S Maurer

引用次数: 0

Liver stiffness in AL amyloidosis: interest in diagnosis and prognosis. AL淀粉样变性患者肝脏僵硬：对诊断和预后的影响。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-09-06 DOI: 10.1080/13506129.2026.2725750

Paul Carrier, Véronique Loustaud-Ratti, Jean-François Cadranel, Céline Rigaud, Bienvenue Randrianarivo, David Lavergne, Laurent Alric, Aurore Baron, Eric Nguyen Khac, Arnaud Pauwels, Louis Bettan, Xavier Causse, Honoré Zougmoure, Abdelali El Kharrazi, Marilyne Debette-Gratien, Anne Cypierre, Murielle Roussel, Arnaud Jaccard

{"title":"Liver stiffness in AL amyloidosis: interest in diagnosis and prognosis.","authors":"Paul Carrier, Véronique Loustaud-Ratti, Jean-François Cadranel, Céline Rigaud, Bienvenue Randrianarivo, David Lavergne, Laurent Alric, Aurore Baron, Eric Nguyen Khac, Arnaud Pauwels, Louis Bettan, Xavier Causse, Honoré Zougmoure, Abdelali El Kharrazi, Marilyne Debette-Gratien, Anne Cypierre, Murielle Roussel, Arnaud Jaccard","doi":"10.1080/13506129.2026.2725750","DOIUrl":"https://doi.org/10.1080/13506129.2026.2725750","url":null,"abstract":"Introduction: Liver is frequently involved in AL amyloidosis. Diagnosis usually relies on hepatomegaly and elevated alkaline phosphatase levels. Liver stiffness (LS) at diagnosis and, overall, its follow-up remains to be further explored.Material and methods: We assessed LS at diagnosis in a retrospective multicenter cohort. Patients were classified as having liver involvement only (group 1), heart involvement only (group 2), both (group 3), or neither (group 4). In a prospective monocentric cohort, we evaluated changes in LS over time.Results: In the retrospective cohort of 56 patients, median LS values were 75 kPa in group 1 (n = 14), 11.6 kPa in group 2 (n = 17), 28.8 kPa in group 3 (n = 13), and 6.4 kPa in group 4 (n = 12). The ROC curve in patients with liver involvement identified an optimal cutoff of 13.6 kPa, with 92% sensitivity and 71% specificity. In the prospective cohort of 19 treated patients, median LS decreased with 91% reduction, 26% reduction, 79% reduction and 19% reduction respectively in groups 1, 2, 3 and 4.Conclusion: LS is useful for diagnosing hepatic involvement in amyloidosis. A threshold of 13.6 kPa, in the absence of other etiologies, could be prosposed as diagnostic criteria. A decrease in LS greater than 50% can be a marker of hepatic recovery. Clinically and prognostically significant cutoffs still need to be confirmed in future, larger-scale studies.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-10"},"PeriodicalIF":5.1,"publicationDate":"2026-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901434","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

Susceptibility and screening approaches in systemic amyloidosis: expert perspectives from the International Society of Amyloidosis (ISA). 系统性淀粉样变性的易感性和筛查方法：来自国际淀粉样变性学会（ISA）的专家观点。

IF 5.1 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-09-04 DOI: 10.1080/13506129.2026.2718204

Taxiarchis Kourelis, Raymond Comenzo, Andrea Cortese, Justin L Grodin, Martha Grogan, Paolo Milani, Frederick L Ruberg, Yoshiki Sekijima, Lukas D Weberling, Efstathios Kastritis, Kevin M Alexander

{"title":"Susceptibility and screening approaches in systemic amyloidosis: expert perspectives from the International Society of Amyloidosis (ISA).","authors":"Taxiarchis Kourelis, Raymond Comenzo, Andrea Cortese, Justin L Grodin, Martha Grogan, Paolo Milani, Frederick L Ruberg, Yoshiki Sekijima, Lukas D Weberling, Efstathios Kastritis, Kevin M Alexander","doi":"10.1080/13506129.2026.2718204","DOIUrl":"https://doi.org/10.1080/13506129.2026.2718204","url":null,"abstract":"Background: Systemic amyloidosis is a progressive disease in which misfolded protein toxicity and deposition lead to organ dysfunction. Early diagnosis is essential to enable timely treatment and prevent irreversible organ damage, yet the disease remains underrecognized. Although advances in imaging and biomarkers have raised suspicion in appropriate contexts, a major barrier is the absence of clearly defined factors identifying individuals at high risk who warrant timely screening.Methods: On behalf of the International Society of Amyloidosis (ISA), experts in the field reviewed the diagnostic landscape and identified unmet needs in the early detection of systemic amyloidosis.Results: The experts highlighted a lack of risk-adapted screening strategies capable of improving detection while avoiding inefficient population-level screening. They identified parameters that may help define high-risk populations, including biomarkers, susceptibility factors, demographic variables, and clinical 'red flags'. They further discussed how artificial intelligence (AI)-driven tools may support identification of at-risk individuals and accelerate diagnosis in suspected amyloidosis.Conclusions: Defining high-risk populations and integrating AI-based tools may enable risk-adapted screening that improves early diagnosis while avoiding indiscriminate population-level testing.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-14"},"PeriodicalIF":5.1,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148892879","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