Amyloid-Journal of Protein Folding Disorders最新文献_第4页

Abnormal global longitudinal strain and reduced serum inflammatory markers in cardiac AL amyloidosis patients without significant amyloid fibril deposition. 无明显淀粉样纤维沉积的心脏AL淀粉样变性患者的整体纵向应变异常和血清炎症标志物降低。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-03-25 DOI: 10.1080/13506129.2025.2478397

Camille V Edwards, Grace M Ferri, Josue Villegas-Galaviz, Sabrina Ghosh, Pushpinder Singh Bawa, Feiya Wang, Elena Klimtchuk, Tinuola B Ajayi, Gareth J Morgan, Tatiana Prokaeva, Andrew Staron, Frederick L Ruberg, Vaishali Sanchorawala, Richard M Giadone, George J Murphy

{"title":"Abnormal global longitudinal strain and reduced serum inflammatory markers in cardiac AL amyloidosis patients without significant amyloid fibril deposition.","authors":"Camille V Edwards, Grace M Ferri, Josue Villegas-Galaviz, Sabrina Ghosh, Pushpinder Singh Bawa, Feiya Wang, Elena Klimtchuk, Tinuola B Ajayi, Gareth J Morgan, Tatiana Prokaeva, Andrew Staron, Frederick L Ruberg, Vaishali Sanchorawala, Richard M Giadone, George J Murphy","doi":"10.1080/13506129.2025.2478397","DOIUrl":"10.1080/13506129.2025.2478397","url":null,"abstract":"Background: Cardiac dysfunction in AL amyloidosis is thought to be partly related to the direct impact of AL LCs on cardiomyocyte function, with the degree of dysfunction at diagnosis as a major determinant of clinical outcomes. Nonetheless, mechanisms underlying LC-induced myocardial toxicity remain unclear.Methods: We identified gene expression changes correlating with human cardiac cell exposure to cardiomyopathy-associated AL LCs. We then confirmed these findings in a clinical dataset focusing on clinical parameters associated with pathways dysregulated at the gene expression level.Results: Upon exposure to cardiomyopathy-associated AL LCs, cardiac cells exhibited gene expression changes related to myocardial contractile function and inflammation, leading us to hypothesise that there could be clinically detectable changes in global longitudinal strain (GLS) on echocardiogram and serum inflammatory markers in patients. Thus, we identified 29 patients with normal interventricular septum diameter (IVSd) but abnormal cardiac biomarkers, suggestive of LC-induced cardiac dysfunction. These patients display early cardiac biomarker staging, abnormal GLS, and significantly reduced serum inflammatory markers compared to patients with clinically evident amyloid fibril deposition.Conclusion: Collectively, our findings highlight early molecular and functional signatures of cardiac AL amyloidosis, with potential impact for developing improved patient biomarkers and novel therapeutics.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"179-192"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711935","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

Therapeutic effect of TTR siRNA on hereditary transthyretin amyloidosis (ATTRv) nephropathy. TTR siRNA对遗传性甲状腺转蛋白淀粉样变性肾病的治疗作用。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-02-23 DOI: 10.1080/13506129.2025.2470369

Takahiro Ajiki, Tatsuhiko Ozono, Fusako Sera, Hiroaki Yonishi, Jun Matsuda, César Aguirre, Keita Kakuda, Yumiko Yasuhara, Yoshitaka Isaka, Yasushi Sakata, Kensuke Ikenaka, Hideki Mochizuki

{"title":"Therapeutic effect of TTR siRNA on hereditary transthyretin amyloidosis (ATTRv) nephropathy.","authors":"Takahiro Ajiki, Tatsuhiko Ozono, Fusako Sera, Hiroaki Yonishi, Jun Matsuda, César Aguirre, Keita Kakuda, Yumiko Yasuhara, Yoshitaka Isaka, Yasushi Sakata, Kensuke Ikenaka, Hideki Mochizuki","doi":"10.1080/13506129.2025.2470369","DOIUrl":"10.1080/13506129.2025.2470369","url":null,"abstract":"Background: Hereditary transthyretin amyloidosis (ATTRv) is a fatal disease that affects multiple organs. Up to 30% of patients with ATTRv also experience renal complications, including proteinuria and a decline in eGFR. Recently, new treatments for ATTRv, a tetramer stabiliser and transthyretin small interfering RNA (TTR siRNA) therapeutics, have emerged. However, the effectiveness of these new treatments on renal complications in ATTRv remains unknown.Methods: We retrospectively collected clinical data from ATTRv patients and analysed the relationship between the initial renal complications and age. We also examined whether the new treatments affected the clinical course of renal symptoms, using eGFR changes or longitudinal data on urine protein/albumin creatinine ratio.Results: A total of 16 patients' data were collected. Regarding their initial renal complications, we found that patients with proteinuria had an earlier age at onset than those with a decline in eGFR. Notably, longitudinal data showed that TTR siRNA therapeutics reduced proteinuria and increased serum protein, while none of the new treatments could demonstrate a significant improvement in the slope of eGFR decline.Conclusions: We demonstrated that TTR siRNA therapeutics represent potential candidates for ATTRv nephropathy, despite the fact that their use has been limited to neurological symptoms to date.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"171-178"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484596","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

Complete remission after patisiran treatment in a patient with nephrotic syndrome secondary to hereditary transthyretin amyloidosis (ATTR). 一名继发于遗传性转甲状腺素淀粉样变性（ATTR）的肾病综合征患者在接受帕替西兰治疗后病情完全缓解。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-03-05 DOI: 10.1080/13506129.2025.2472819

Axel Vila, Anissa Moktefi, Thibaud Damy, Violaine Planté-Bordeneuve, Philippe Remy, Magali Colombat, Vincent Audard, Hamza Sakhi

引用次数: 0

Correction. 修正。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2024-12-18 DOI: 10.1080/13506129.2024.2442810

引用次数: 0

Supportive care for systemic amyloidosis: International Society of Amyloidosis (ISA) expert panel guidelines. 系统性淀粉样变性的支持治疗：国际淀粉样变性学会（ISA）专家小组指南。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-02-21 DOI: 10.1080/13506129.2025.2463678

Eli Muchtar, Martha Grogan, Fabian Aus dem Siepen, Marcia Waddington-Cruz, Yohei Misumi, Antonia S Carroll, John O Clarke, Vaishali Sanchorawala, Paolo Milani, Riccardo Caccialanza, Valentina Da Prat, Rajiv Pruthi, Luis F Quintana, Frank Bridoux

{"title":"Supportive care for systemic amyloidosis: International Society of Amyloidosis (ISA) expert panel guidelines.","authors":"Eli Muchtar, Martha Grogan, Fabian Aus dem Siepen, Marcia Waddington-Cruz, Yohei Misumi, Antonia S Carroll, John O Clarke, Vaishali Sanchorawala, Paolo Milani, Riccardo Caccialanza, Valentina Da Prat, Rajiv Pruthi, Luis F Quintana, Frank Bridoux","doi":"10.1080/13506129.2025.2463678","DOIUrl":"10.1080/13506129.2025.2463678","url":null,"abstract":"Systemic amyloidosis refers to a group of protein misfolding disorders resulting in organ deposition with amyloid, leading to organ dysfunction, ultimately resulting in organ failure and death if not successfully treated. Treatment is type-specific and aimed at the underlying source of the misfolded protein. In the past decades, treatments have become increasingly available across the various amyloidosis types with improved response rates and longer survival. Supportive care measures are an integral part of care for patients with systemic amyloidosis to improve symptom burden and quality of life, reduce healthcare costs, and potentially prolong survival while type-directed therapy takes effect. In these guidelines, we provide supportive care recommendations across eight areas of interest in systemic amyloidosis: cardiology, nephrology, peripheral neuropathy, central nervous system involvement, autonomic neuropathy, gastroenterology, coagulopathy and bleeding, nutrition and hematology. These guidelines were developed on behalf of the International Society of Amyloidosis (ISA) by experts in the above fields and provide the best available evidence and expertise for supportive care in these rare disorders.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"93-116"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476998","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

Proteomic determinants of renal organ response in light-chain amyloidosis. 轻链淀粉样变性肾器官反应的蛋白质组学决定因素。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-02-19 DOI: 10.1080/13506129.2025.2467282

Matthew J Rees, Eli Muchtar, Suheil-Albert Atallah-Yunes, Surendra Dasari, Nelson Leung, Morie Gertz, Angela Dispenzieri, Ellen McPhail, Shaji Kumar, Emilie Anderson, Christopher Dick, Taxiarchis Kourelis

引用次数: 0

Factors associated with financial toxicity in patients with transthyretin amyloidosis: results from Amyloidosis Research Consortium's treatment affordability patient and caregiver survey. 转甲状腺蛋白淀粉样变性患者的经济毒性相关因素：淀粉样变性研究联盟的治疗负担能力患者和护理者调查结果

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-02-14 DOI: 10.1080/13506129.2025.2462541

Sabrina Rebello, Kristen Hsu, Jose Nativi-Nicolau, Chafic Karam, Martha Grogan, Isabelle Lousada, Mathew S Maurer

{"title":"Factors associated with financial toxicity in patients with transthyretin amyloidosis: results from Amyloidosis Research Consortium's treatment affordability patient and caregiver survey.","authors":"Sabrina Rebello, Kristen Hsu, Jose Nativi-Nicolau, Chafic Karam, Martha Grogan, Isabelle Lousada, Mathew S Maurer","doi":"10.1080/13506129.2025.2462541","DOIUrl":"10.1080/13506129.2025.2462541","url":null,"abstract":"Introduction: Transthyretin (ATTR) amyloidosis is an ultimately fatal disease. While approved therapies slow disease progression, the cost of care can be significant for patients. The objective of this survey was to describe the factors associated with financial toxicity of ATTR amyloidosis and the economic burden of care and treatment.Methods: The Amyloidosis Research Consortium (ARC) conducted an online survey in the United States for patients with ATTR amyloidosis and their caregivers. Financial toxicity was assessed using the COmprehensive Score for Financial Toxicity (COST). Multivariate linear regression was used to identify factors associated with financial toxicity controlling for key sociodemographic and patient characteristics.Results: Of 452 respondents, 249 (55%) reported financial toxicity. Respondents who reported financial toxicity predominantly had ATTRv amyloidosis, were younger, non-white, had a household income <$100,000, had multiple sources of insurance, and were less frequently retired. Respondents reported using several ways to offset the cost of treatment.Conclusions: Patients with ATTR amyloidosis experience significant financial distress that is comparable to patients with cancer, and as a result, many patients delay treatment or pay for treatment using savings and/or borrowing money. African American respondents (vs white) were significantly at risk.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"161-170"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416176","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

Re-evaluation of Mayo 2004 and revised Mayo 2012 staging in patients with AL amyloidosis in the era of new therapies. 在新疗法时代，对AL淀粉样变性患者的梅奥2004分期和梅奥2012修订分期进行重新评估。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-02-04 DOI: 10.1080/13506129.2025.2456790

Foteini Theodorakakou, Despina Fotiou, Vasiliki Spiliopoulou, Magdalini Migkou, Panagiotis Malandrakis, Ioannis Ntanasis-Stathopoulos, Maria Roussou, Nikolaos Kanellias, Evangelos Eleutherakis-Papaiakovou, Eirini Solia, Asimina Papanikolaou, Charikleia Gakiopoulou, Julie Courraud, Panagiota-Efstathia Nikolaou, Stavroula Giannouli, Maria Gavriatopoulou, Evangelos Terpos, Meletios-Athanasios Dimopoulos, Efstathios Kastritis

引用次数: 0

An updated AL-base reveals ranked enrichment of immunoglobulin light chain variable genes in AL amyloidosis. 更新的AL碱基显示免疫球蛋白轻链可变基因在AL淀粉样变性中的排列富集。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2024-12-06 DOI: 10.1080/13506129.2024.2434899

Gareth J Morgan, Allison N Nau, Sherry Wong, Brian H Spencer, Yun Shen, Axin Hua, Matthew J Bullard, Vaishali Sanchorawala, Tatiana Prokaeva

{"title":"An updated AL-base reveals ranked enrichment of immunoglobulin light chain variable genes in AL amyloidosis.","authors":"Gareth J Morgan, Allison N Nau, Sherry Wong, Brian H Spencer, Yun Shen, Axin Hua, Matthew J Bullard, Vaishali Sanchorawala, Tatiana Prokaeva","doi":"10.1080/13506129.2024.2434899","DOIUrl":"10.1080/13506129.2024.2434899","url":null,"abstract":"Background: Each monoclonal antibody light chain associated with AL amyloidosis has a unique sequence. Defining how these sequences drive amyloid deposition could facilitate faster diagnosis and lead to new treatments.Methods: Light chain sequences are collected in the AL-Base repository. Monoclonal sequences from AL amyloidosis, multiple myeloma and the healthy polyclonal immune repertoire were compared to identify differences in precursor gene use, mutation frequency and physicochemical properties.Results: AL-Base now contains 2,200 monoclonal light chain sequences from AL amyloidosis and other plasma cell dyscrasias. Sixteen germline precursor genes were enriched in AL amyloidosis, relative to multiple myeloma and the polyclonal repertoire. Two genes, IGKV1-16 and IGLV1-36, were infrequently observed but highly enriched in AL amyloidosis. The number of mutations varied widely between light chains. AL-associated κ light chains harboured significantly more mutations compared to multiple myeloma and polyclonal sequences, whereas AL-associated λ light chains had fewer mutations. Machine learning tools designed to predict amyloid propensity were less accurate for new sequences than their original training data.Conclusions: Rarely-observed light chain variable genes may carry a high risk of AL amyloidosis. New approaches are needed to define sequence-associated risk factors for AL amyloidosis. AL-Base is a foundational resource for such studies.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"129-138"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12068999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787744","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

Usefulness of the Columbia score for predicting outcomes in patients with transthyretin amyloid cardiomyopathy. Analysis of the Galician registry of cardiac amyloidosis. 哥伦比亚评分预测转甲状腺蛋白淀粉样心肌病患者预后的有效性。加利西亚心脏淀粉样变性登记的分析。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-01-19 DOI: 10.1080/13506129.2025.2453231

Fausto De Andrés-Cardelle, Gonzalo Barge-Caballero, Manuel López-Pérez, Andrea López-López, Eva González-Babarro, Mario Gutiérrez-Feijoo, Raquel Bilbao-Quesada, Inés Gómez-Otero, Alfonso Varela-Román, Alberto Bouzas-Mosquera, María G Crespo-Leiro, Eduardo Barge-Caballero

{"title":"Usefulness of the Columbia score for predicting outcomes in patients with transthyretin amyloid cardiomyopathy. Analysis of the Galician registry of cardiac amyloidosis.","authors":"Fausto De Andrés-Cardelle, Gonzalo Barge-Caballero, Manuel López-Pérez, Andrea López-López, Eva González-Babarro, Mario Gutiérrez-Feijoo, Raquel Bilbao-Quesada, Inés Gómez-Otero, Alfonso Varela-Román, Alberto Bouzas-Mosquera, María G Crespo-Leiro, Eduardo Barge-Caballero","doi":"10.1080/13506129.2025.2453231","DOIUrl":"10.1080/13506129.2025.2453231","url":null,"abstract":"Aims: To evaluate the predictive value of the Columbia score in patients with transthyretin amyloid cardiomyopathy (ATTR-CM).Methods: Observational study based in a prospective, multi-centre registry of patients with ATTR-CM recruited between January-2018 and December-2023 in 7 Spanish hospitals. The Baseline Columbia score was correlated by means of multivariable Cox's regression with study endpoints all-cause death and all-cause death or heart failure (HF) hospitalisation. Discriminative capacity was evaluated by means of Harrell's C statistics and area under 2-year time-dependent receiver-operator curves.Results: We studied 374 patients with ATTR-CM. Columbia score was independently associated with increased risk of all-cause death (adjusted HR per 1 point = 1.30, 95% CI 1.17-1.45) and all-cause death or HF hospitalisation (adjusted HR per 1 point = 1.38, 95% 1.26-1.50). The score showed moderate discriminative capacity for all-cause death (Harrell's C = 0.653) and all-cause death or HF hospitalisation (Harrell's C = 0.697). The area under the 2-year time-dependent receiver-operator curve was 0.594 for all-cause death and 0.669 for all-cause death or HF hospitalisation. Columbia's score was adequately calibrated for both outcomes.Conclusions: We studied the prognostic performance of the Columbia score in a Spanish prospective cohort of patients with ATTR-CM. The score showed adequate calibration and moderate discriminative capacity for predicting death and HF hospitalisations.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"145-153"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015624","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