Amyloid-Journal of Protein Folding Disorders最新文献

{"title":"A novel transthyretin variant p.Val114Glu (Val94Glu) in an Italian patient with mixed phenotype hereditary transthyretin amyloidosis.","authors":"Francesca Vitali, Mario Nuvolone, Angela Romano, Maria Ausilia Sciarrone, Angelo Tiziano Cimmino, Valeria Di Simone, Paolo Calabresi, Laura Obici, Giovanni Palladini, Marco Luigetti","doi":"10.1080/13506129.2025.2508437","DOIUrl":"https://doi.org/10.1080/13506129.2025.2508437","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-5"},"PeriodicalIF":5.2,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152842","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}

{"title":"Prognostic impact of cardiac resynchronization therapy in wild-type transthyretin amyloid cardiomyopathy.","authors":"Ojasav Sehrawat, Konstantinos C Siontis, Nicholas Tan, Maren Maanja, Choudhary A Chahal, David Hodge, Wayne L Miller, Angela Dispenzieri, Peter A Noseworthy, Grace Lin","doi":"10.1080/13506129.2025.2504443","DOIUrl":"https://doi.org/10.1080/13506129.2025.2504443","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-3"},"PeriodicalIF":5.2,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144282","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}

{"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":"https://doi.org/10.1080/13506129.2025.2500364","url":null,"abstract":"<p><p>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, <i>p</i> = .014); patients with SFN were also more likely to have soft tissue involvement (OR 7.1, 95% CI 1.5-33.4, <i>p</i> = .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, <i>p</i> = .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.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-7"},"PeriodicalIF":5.2,"publicationDate":"2025-05-07","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}

{"title":"Unmasking the silent culprit: the elusive phenotypes of hereditary β2-microglobulin amyloidosis.","authors":"Eduardo Boiteux Uchôa Cavalcanti, Savana Camilla de Lima Santos, Heveline Becker de Moura, Osvaldo Moreira do Nascimento","doi":"10.1080/13506129.2025.2500347","DOIUrl":"https://doi.org/10.1080/13506129.2025.2500347","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-3"},"PeriodicalIF":5.2,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038233","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}

{"title":"Previous total knee or total hip arthroplasty and association with amyloidosis - a Danish nationwide study.","authors":"Navid Noory, Eva Havers-Borgersen, Oscar Westin, Mathew S Maurer, Lars Køber, Finn Gustafsson, Emil Fosbøl","doi":"10.1080/13506129.2025.2495168","DOIUrl":"https://doi.org/10.1080/13506129.2025.2495168","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-3"},"PeriodicalIF":5.2,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991071","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}

{"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":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 (<i>p</i> = 0.002), even in early-stage disease (<i>p</i> = 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, <i>p</i> < 0.001) and death (OR = 5.27; 95%CI: 1.94 - 14.31; <i>p</i> = 0.001).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-9"},"PeriodicalIF":5.2,"publicationDate":"2025-04-24","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}

{"title":"High rate of false negative ^99mTc-pyrophosphate scintigraphy scans in patients with Leu58His transthyretin amyloid cardiomyopathy.","authors":"Muhammed A Rahim, Vivek Jani, Vrinda Gupta, Serena Zampino, Daniel Tsottles, Elie Saad, Emily Brown, Marc K Halushka, Charles Steenbergen, Mark Ranek, Kavita Sharma, Michael Polydefkis, Joban Vaishnav","doi":"10.1080/13506129.2025.2493688","DOIUrl":"https://doi.org/10.1080/13506129.2025.2493688","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-3"},"PeriodicalIF":5.2,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059114","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}

{"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":"https://doi.org/10.1080/13506129.2025.2487822","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>Study results demonstrate that cognitive impairment in ATTRV30M amyloidosis patients treated with LTx predicts long-term survival.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-8"},"PeriodicalIF":5.2,"publicationDate":"2025-04-10","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}

{"title":"Computed tomography-derived myocardial radiomics for detection of transthyretin amyloidosis in patients with severe aortic stenosis.","authors":"Alexios S Antonopoulos, Ioannis Panagiotopoulos, Konstantinos Karampinos, Konstantinos Spargias, Charalampos Papastamos, Theodoros Tsampras, Nikolaos Axypolitos, Spyridon Simantiris, Georgios Benetos, Nikolaos Ktenopoulos, Panagiotis Kanatas, Maria Koutelou, Konstantinos Toutouzas, Marios Ioannides, Christos Eftychiou, Christos Mourmouris, Thomas Vrachliotis, Charalambos Antoniades, Konstantinos Tsioufis, Charalambos Vlachopoulos","doi":"10.1080/13506129.2025.2486072","DOIUrl":"https://doi.org/10.1080/13506129.2025.2486072","url":null,"abstract":"<p><strong>Background: </strong>We explored the value of myocardial radiomics by computed tomography angiography (CTA) for detection of transthyretin amyloidosis cardiomyopathy (ATTR-CM).</p><p><strong>Methods: </strong>The study included 589 patients with aortic stenosis and CTA datasets. Radiomics were extracted from LV myocardium. Arm 1 (<i>n</i> = 400) served for method optimisation and removal of redundant features. In Arm 2 (<i>n</i> = 30), we identified radiomics associated with extracellular volume by CT (ECV_CT); in Arm 3 (<i>n</i> = 159), radiomics were compared in patients with/without positive bone scintigraphy scan (training cohort, <i>n</i> = 84; validation cohort, <i>n</i> = 75) to build a radiomic signature for ATTR-CM.</p><p><strong>Results: </strong>In Arm 1, unsupervised clustering of patients based on radiomics was associated with significant differences in patients' clinical profile among clusters. In Arm 2, we constructed a radiomic-based ECV (correlation with ECV_CT: rho = .78, <i>p</i> = 1.2 x 10^-6) with excellent diagnostic accuracy for high ECV_CT (AUC = .925, 95%CI: .825-1.000, <i>p</i> = .0002). In Arm 3, a radiomic score (AmyloidRS) had good performance for ATTR-CM detection in the training (c-index .88, 95%CI: .80-.95) and validation cohort (c-index .84, 95%CI: .69-.98). When combined with clinical features, AmyloidRS maximised diagnostic accuracy for ATTR (kappa: .894, balanced accuracy .984).</p><p><strong>Conclusions: </strong>We present a radiomic method for myocardial tissue characterisation in patients with severe aortic stenosis which enables ATTR-CM detection from standard CTA scans.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-12"},"PeriodicalIF":5.2,"publicationDate":"2025-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143797143","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}

{"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":"https://doi.org/10.1080/13506129.2025.2481310","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Objectives: </strong>To assess the prevalence of cardiac amyloidosis (CA) 6 years post-LSS surgery, among patients with transthyretin amyloid deposits in ligamentum flavum.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-8"},"PeriodicalIF":5.2,"publicationDate":"2025-03-25","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}