Amyloid-Journal of Protein Folding Disorders最新文献

{"title":"Technetium-99m-pyrophosphate imaging-based computed tomography-guided core-needle biopsy of internal oblique muscle in wild-type transthyretin cardiac amyloidosis.","authors":"Koji Takahashi, Yoshiyasu Hiratsuka, Takaaki Iwamura, Daisuke Sasaki, Nobuhisa Yamamura, Sohei Kitazawa, Mitsuharu Ueda, Hiroe Morioka, Takafumi Okura, Daijiro Enomoto, Shigeki Uemura, Taizo Kono, Tomoki Sakaue, Shuntaro Ikeda","doi":"10.1080/13506129.2023.2235881","DOIUrl":"10.1080/13506129.2023.2235881","url":null,"abstract":"<p><strong>Background: </strong>Technetium-99m-pyrophosphate (^99mTc-PYP) uptake in the internal oblique muscle (IOM), which is often observed in patients with wild-type transthyretin cardiac amyloidosis (ATTR-CA), indicates amyloid transthyretin (ATTR) deposition.</p><p><strong>Objective: </strong>This study aimed to assess the safety and efficacy of ^99mTc-PYP imaging-based computed tomography (CT)-guided core-needle biopsy of the IOM as a new extracardiac screening biopsy for confirming the presence of ATTR deposits.</p><p><strong>Methods: </strong>Patients with suspected ATTR-CA in whom myocardial tracer uptake was detected on chest- and abdomen-centered images of ^99mTc-PYP scintigraphy underwent CT-guided core-needle biopsy at the site with the highest tracer uptake in the IOM between September 2021 and November 2022.</p><p><strong>Results: </strong>All 18 consecutive patients (mean age, 86.3 years ± 6.5; 61.1% male) enrolled in the study showed ^99mTc-PYP uptake into the IOM. Adequate tissue samples were obtained from all patients except one without serious complications. Immunohistochemical analysis confirmed ATTR deposits in 16/18 (88.9%) patients. In the remaining two patients, ATTR deposits were observed <i>via</i> endomyocardial biopsy. All patients were diagnosed with wild-type ATTR-CA based on transthyretin gene sequence testing results.</p><p><strong>Conclusion: </strong>In wild-type ATTR-CA, ^99mTc-PYP imaging-based CT-guided core-needle biopsy of the IOM could be used as an extracardiac screening biopsy to confirm the presence of ATTR deposits.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"12-21"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10216790","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":"Intra-familial variability of oculoleptomeningeal amyloidosis due to the ATTR I107M (c.381T > G) mutation: diagnostic challenges of a rare phenotype.","authors":"Monica Alcantara, Vera Bril","doi":"10.1080/13506129.2023.2260537","DOIUrl":"10.1080/13506129.2023.2260537","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"70-72"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41119955","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":"Correction.","authors":"","doi":"10.1080/13506129.2023.2246797","DOIUrl":"10.1080/13506129.2023.2246797","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"iii"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10028634","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":"Correlation of 99mTc-DPD bone scintigraphy with histological amyloid load in patients with ATTR cardiac amyloidosis.","authors":"Maria Ungericht, Valeria Groaz, Moritz Messner, Thomas Schuetz, Luca Brunelli, Marc-Michael Zaruba, Daniela Lener, Eva Stocker, Axel Bauer, Alexander Stephan Kroiss, Agnes Mayr, Christoph Röcken, Gerhard Poelzl","doi":"10.1080/13506129.2023.2239986","DOIUrl":"10.1080/13506129.2023.2239986","url":null,"abstract":"<p><strong>Background: </strong>The significance of measuring 99mTc-labelled-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) in transthyretin (ATTR) cardiac amyloidosis has not been adequately studied. This single-centre observational study evaluated the correlation between 99mTc-DPD scintigraphy and histological amyloid load in endomyocardial biopsy (EMB).</p><p><strong>Methods: </strong>Twenty-eight patients with biopsy-proven ATTR amyloidosis and concomitantly available 99mTc-DPD scintigraphy were included. Visual Perugini scoring, and (semi-)quantitative analysis of cardiac 99mTc-DPD uptake by planar whole-body imaging and single photon emission computed tomography (SPECT/CT) using regions of interest (ROI) were performed. From this, heart-to-whole-body ratio (H/WB) and heart-to-contralateral-chest ratio (H/CL) were calculated. The histological amyloid load was quantified using two different staining methods.</p><p><strong>Results: </strong>Increased cardiac tracer uptake was documented in all patients (planar: ROImean 129 ± 37 cps; SPECT/CT: ROImean 369 ± 142 cps). Histological amyloid load (19 ± 13%) significantly correlated with Perugini score (<i>r</i> = 0.69, <i>p</i> < .001) as well as with cardiac 99mTc-DPD uptake (planar: <i>r</i> = 0.64, <i>p</i> < .001; H/WB: <i>r</i> = 0.50, <i>p</i> = .014; SPECT/CT: <i>r</i> = 0.53, <i>p</i> = .008; H/CL: <i>r</i> = 0.43, <i>p</i> = .037) (results are shown for correlations with Congo Red-staining).</p><p><strong>Conclusion: </strong>In ATTR, cardiac 99mTc-DPD uptake significantly correlated with histological amyloid load in EMB. Further studies are needed to implement thresholds in cardiac 99mTc-DPD uptake measurements for risk stratification and guidance of therapy.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"22-31"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9917681","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":"Heterogeneous worldwide access and pricing of Tafamidis.","authors":"Abdirahman Wardhere, Dimitrios Bampatsias, Nowell Fine, Pablo Garcia-Pavia, Martha Grogan, Arnt V Kristen, Thibaud Damy, Yoshiki Sekijima, Mathew S Maurer","doi":"10.1080/13506129.2023.2263620","DOIUrl":"10.1080/13506129.2023.2263620","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"73-75"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41167104","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":"Diagnostic and prognostic contribution of DPD scintigraphy in transthyretin V30M cardiac amyloidosis.","authors":"Maria C Azevedo Coutinho, Nuno Cortez-Dias, Guilhermina Cantinho, Susana Gonçalves, Nelson Cunha, Tiago Rodrigues, Laura Santos, Isabel Conceição, João Agostinho, Fausto J Pinto","doi":"10.1080/13506129.2023.2239987","DOIUrl":"10.1080/13506129.2023.2239987","url":null,"abstract":"<p><strong>Background: </strong>Early diagnosis and prognostic stratification of cardiac transthyretin amyloidosis are crucial. Although ^99mTc 3,3-diphosphono-1,2-propanedicarboxylic acid (DPD) scintigraphy is the preferred method for the non-invasive diagnosis, its accuracy appears to be limited in transthyretin amyloidosis protein (ATTR) V30M mutation. Furthermore, its prognostic value in this mutation is unknown. This study investigated the diagnostic value of DPD scintigraphy to detect ATTR cardiomyopathy in V30M mutation and explored its prognostic value regarding mortality.</p><p><strong>Methods: </strong>A total of 288 ATTR V30M mutation carriers (median age: 46 years; 49% males) without myocardial thickening (defined as septal thickness ≥13mm) attributable to other causes and who underwent DPD scintigraphy were enrolled. ATTR cardiomyopathy was defined by septal thickness ≥13mm and at least one of the criteria: late heart-to-mediastinum (H/M) ¹²³I-metaiodobenzylguanidine (MIBG) uptake ratio <1.60; electrical heart disease or biopsy-documented amyloidosis.</p><p><strong>Results: </strong>ATTR cardiomyopathy was identified in 41 (14.2%) patients and cardiac DPD uptake in 34 (11.8%). During a mean follow-up of 33.6 ± 1.2 months, 16 patients died (5.6%). Mortality was 14 times higher in patients with ATTR cardiomyopathy, 13 times higher in those with DPD uptake and 10 times higher in those with late H/M MIBG <1.60. The combined assessment of septal thickness and cardiac DPD uptake improved risk stratification: patients without septal thickening and without DPD retention had an excellent prognosis while those who presented either or both of them had a significantly worse prognosis, with 5-year mortality rates ranging from 39.9 to 53.3%.</p><p><strong>Conclusions: </strong>DPD scintigraphy is useful for prognostic stratification of ATTR V30M mutation carriers. Patients without septal thickening and no DPD uptake present the best prognosis compared to those with any signs of cardiac involvement.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"32-41"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9868164","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":"Inappropriate use of technetium-99m pyrophosphate scanning for the evaluation of transthyretin amyloidosis.","authors":"Crystal Lihong Yan, Nina Thakkar Rivera, James Hoffman","doi":"10.1080/13506129.2023.2267162","DOIUrl":"10.1080/13506129.2023.2267162","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"76-78"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41163161","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":"AA amyloidosis in a father and daughter as complication of <i>PSTPIP1</i>-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.","authors":"Anne F Brunger, Hans L A Nienhuis, Johan Bijzet, Evelien Zonneveld-Huijssoon, Jan S F Sanders, Geertje E Legger, Reinold O B Gans, Bouke P C Hazenberg","doi":"10.1080/13506129.2023.2272556","DOIUrl":"10.1080/13506129.2023.2272556","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"82-84"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49693691","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":"The way to a man's heart: prostate samples for the early detection of transthyretin cardiomyopathy.","authors":"Lawrence Zeldin, Karan Wats, Kathleen M O'Toole, Fabrizio Remotti, Mathew S Maurer","doi":"10.1080/13506129.2023.2268812","DOIUrl":"10.1080/13506129.2023.2268812","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"79-81"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41219511","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":"Treatment response and neurofilament light chain levels with long-term patisiran in hereditary transthyretin-mediated amyloidosis with polyneuropathy: 24-month results of an open-label extension study.","authors":"Simina Ticau, Emre Aldinc, Michael Polydefkis, David Adams, Teresa Coelho, Mitsuharu Ueda, Cecilia Hale, John Vest, Paul Nioi","doi":"10.1080/13506129.2023.2232520","DOIUrl":"10.1080/13506129.2023.2232520","url":null,"abstract":"<p><strong>Background: </strong>Longitudinal changes in neurofilament light chain (NfL) levels were evaluated alongside prespecified clinical assessments 24 months into the patisiran Global open-label extension (OLE) study in patients with ATTRv amyloidosis with polyneuropathy.</p><p><strong>Methods: </strong>All patients enrolled in the Global OLE, from phase III APOLLO and phase II OLE parent studies, received patisiran. Assessments included measures of polyneuropathy (modified Neuropathy Impairment Score+7 (mNIS+7)), quality of life (QOL; Norfolk QOL-Diabetic Neuropathy questionnaire (Norfolk QOL-DN)), and plasma NfL.</p><p><strong>Results: </strong>Patients receiving patisiran in the parent study (APOLLO-patisiran, <i>n</i> = 137; phase II OLE-patisiran, <i>n</i> = 25) demonstrated sustained improvements in mNIS+7 (mean change from parent study baseline (95% confidence interval): APOLLO-patisiran -4.8 (-8.9, -0.6); phase II OLE-patisiran -5.8 (-10.5, -1.2)) and Norfolk QOL-DN (APOLLO-patisiran -2.4 (-7.2, 2.3)), and maintained reduced NfL levels at Global OLE 24 months. After initiating patisiran in the Global OLE, APOLLO-placebo patients (<i>n</i> = 49) demonstrated stabilized mNIS+7, improved Norfolk QOL-DN, and significantly reduced NfL levels. Patisiran continued to demonstrate an acceptable safety profile. Earlier patisiran initiation was associated with a lower exposure-adjusted mortality rate.</p><p><strong>Conclusions: </strong>Long-term patisiran treatment led to sustained improvements in neuropathy and QOL, with NfL demonstrating potential as a biomarker for disease progression and treatment response in ATTRv amyloidosis with polyneuropathy.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-11"},"PeriodicalIF":5.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9962009","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}