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Journals Amyloid : the International Jo...

Amyloid : the International Journal of Experimental and Clinical Investigation

https://read.qxmd.com/read/37563759/correction
#41
(no author information available yet)
No abstract text is available yet for this article.
August 10, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37530216/correlation-of-99mtc-dpd-bone-scintigraphy-with-histological-amyloid-load-in-patients-with-attr-cardiac-amyloidosis
#42
JOURNAL ARTICLE
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
BACKGROUND: 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). METHODS: Twenty-eight patients with biopsy-proven ATTR amyloidosis and concomitantly available 99mTc-DPD scintigraphy were included...
August 2, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37493395/diagnostic-and-prognostic-contribution-of-dpd-scintigraphy-in-transthyretin-v30m-cardiac-amyloidosis
#43
JOURNAL ARTICLE
Maria C Azevedo Coutinho, Nuno Cortez-Dias, Guilhermina Cantinho, Susana Gonçalves, Nelson Cunha, Tiago Rodrigues, Laura Santos, Isabel Conceição, João Agostinho, Fausto J Pinto
BACKGROUND: Early diagnosis and prognostic stratification of cardiac transthyretin amyloidosis are crucial. Although 99m Tc 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...
July 26, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37486102/technetium-99m-pyrophosphate-imaging-based-computed-tomography-guided-core-needle-biopsy-of-internal-oblique-muscle-in-wild-type-transthyretin-cardiac-amyloidosis
#44
JOURNAL ARTICLE
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
BACKGROUND: Technetium-99m-pyrophosphate (99m Tc-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. OBJECTIVE: This study aimed to assess the safety and efficacy of 99m Tc-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...
July 24, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37469249/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
#45
JOURNAL ARTICLE
Simina Ticau, Emre Aldinc, Michael Polydefkis, David Adams, Teresa Coelho, Mitsuharu Ueda, Cecilia Hale, John Vest, Paul Nioi
BACKGROUND: 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. METHODS: 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...
July 20, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37459334/patients-with-transthyretin-amyloidosis-enrolled-in-thaos-between-2018-and-2021-continue-to-experience-substantial-diagnostic-delay
#46
JOURNAL ARTICLE
Teresa Coelho, Angela Dispenzieri, Martha Grogan, Isabel Conceição, Márcia Waddington-Cruz, Arnt V Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Mathew S Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Eve Cariou, Alejandra González-Duarte, Oliver Glass, Doug Chapman, Leslie Amass
No abstract text is available yet for this article.
July 17, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37449354/rare-variant-collapsing-and-bioinformatic-analyses-for-amyloidosis-dementia-and-parkinson-s-disease-in-the-uk-biobank-reveal-novel-susceptibility-loci
#47
JOURNAL ARTICLE
Bengt Zöller, Eric Manderstedt, Christina Lind-Halldén, Christer Halldén
No abstract text is available yet for this article.
July 14, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37439769/mapping-cellular-response-to-destabilized-transthyretin-reveals-cell-and-amyloidogenic-protein-specific-signatures
#48
JOURNAL ARTICLE
Sabrina Ghosh, Carlos Villacorta-Martin, Jonathan Lindstrom-Vautrin, Devin Kenney, Carly S Golden, Camille V Edwards, Vaishali Sanchorawala, Lawreen H Connors, Richard M Giadone, George J Murphy
BACKGROUND: In ATTR amyloidosis, transthyretin (TTR) protein is secreted from the liver and deposited as toxic aggregates at downstream target tissues. Despite recent advancements in treatments for ATTR amyloidosis, the mechanisms underlying misfolded TTR-mediated cellular damage remain elusive. METHODS: In an effort to define early events of TTR-associated stress, we exposed neuronal (SH-SY5Y) and cardiac (AC16) cells to wild-type and destabilized TTR variants (TTRV122I (p...
July 13, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37431733/a-rare-occurrence-and-near-miss-should-a-ttr-gene-test-be-routinely-performed-for-suspected-attr-cardiomyopathy
#49
JOURNAL ARTICLE
Bharadwaj Satyavolu, Genise Green, Anthony Jake Demetris, Prem Soman
No abstract text is available yet for this article.
July 11, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37431668/human-lysozyme-inhibits-the-fibrillation-of-serum-amyloid-a-protein-from-systemic-aa-amyloidosis
#50
JOURNAL ARTICLE
Tim Moderer, Ioana Puşcalău-Gîrţu, Christian Haupt, Julian Baur, Armando Rodríguez-Alfonso, Sebastian Wiese, Christoph Q Schmidt, Miroslav Malešević, Wolf-Georg Forssmann, Ludger Ständker, Marcus Fändrich
BACKGROUND: Systemic AA amyloidosis is a world-wide occurring protein misfolding disease in humans and animals that arises from the formation of amyloid fibrils from serum amyloid A (SAA) protein and their deposition in multiple organs. OBJECTIVE: To identify new agents that prevent fibril formation from SAA protein and to determine their mode of action. MATERIALS AND METHODS: We used a cell model for the formation of amyloid deposits from SAA protein to screen a library of peptides and small proteins, which were purified from human hemofiltrate...
July 11, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37377439/comparison-of-cardiac-involvement-extracardiac-manifestations-and-outcomes-between-homozygote-and-heterozygote-transthyretin%C3%A2-p-val142ile-v122i-variant-in-patients-with-hereditary-transthyretin%C3%A2-amyloidosis-a-cohort-study
#51
JOURNAL ARTICLE
Grégoire Albenque, Mélanie Bézard, Mounira Kharoubi, Shirley Odouard, Ariane Lunati, Elsa Poullot, Amira Zaroui, Emmanuel Teiger, Luc Hittinger, Vincent Audard, Khalil El Karoui, Benoît Funalot, Pascale Fanen, Thibaud Damy, Silvia Oghina
BACKGROUND: Hereditary transthyretin (ATTRv) p.Val142Ile (V122I) mutation is the most common inherited cause of cardiac amyloidosis and little is known about the phenotype and outcome of the rare homozygotic genotype. This study aimed to compare phenotypic characteristics and outcomes between heterozygous and homozygous patients with ATTRv V122I amyloidosis. MATERIAL AND METHODS: This monocentric, observational, retrospective study conducted at the French National Referral Centre for Cardiac Amyloidosis (Henri Mondor Hospital, Créteil), described clinical, electrocardiographic, cardiac imaging features and prognostic data for patients with ATTRv V122I amyloidosis...
June 28, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37353960/attr-and-afib-amyloid-two-different-types-of-amyloid-in-the-annular-ligament-of-trigger-finger
#52
JOURNAL ARTICLE
Christian Treitz, Neelis Müller-Marienburg, Rolf Rüdiger Meliß, Peter Urban, Hans-Detlef Axmann, Frank Siebert, Karsten Becker, Klaus Martens, Hans-Michael Behrens, Eva Gericke, Andreas Tholey, Christoph Röcken
INTRODUCTION: Histological examination of tissue specimens obtained during surgical treatment of trigger finger frequently encountered unclassifiable amyloid deposits in the annular ligament. We systematically explored this unknown type by a comprehensive analysis using histology, immunohistochemistry, and quantitative mass spectrometry-based proteomics. METHODS: 205 tissue specimens of annular ligaments were obtained from 172 patients. Each specimen was studied by histology and immunohistochemistry...
June 23, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37353941/neuropathy-progression-in-hereditary-transthyretin-amyloidosis-attrv-patients-after-liver-transplantation
#53
JOURNAL ARTICLE
Catarina Falcão de Campos, Isabel Conceição
No abstract text is available yet for this article.
June 23, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37318263/how-well-does-liver-span-as-part-of-the-consensus-criteria-for-liver-involvement-in-al-amyloidosis-perform
#54
JOURNAL ARTICLE
Anne F Brunger, Ronald van Rheenen, Reinold O B Gans, Bouke P C Hazenberg, Hans L A Nienhuis
No abstract text is available yet for this article.
June 15, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37294189/immunoglobulin-light-chain-amyloidosis-mimicking-bulbar-amyotrophic-lateral-sclerosis
#55
JOURNAL ARTICLE
Antoine Pegat, Emilien Bernard
No abstract text is available yet for this article.
June 9, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/36519495/quantitative-sensory-testing-a-good-tool-to-identify-subclinical-neuropathy-in-attrv30m-amyloidosis-patients
#56
JOURNAL ARTICLE
Isabel Conceição, Isabel de Castro, Andrés Diaz, José Castro
BACKGROUND: Quantitative sensory testing (QST) has been one of the neurophysiological tools used for follow-up and disease progression assessment in ATTRv amyloidosis. We aimed to detect the utility of QST in identifying subclinical neuropathic involvement in ATTRV30M amyloidosis carriers. METHODS: A cohort of ATTRV30M amyloidosis carriers were assessed with vibratory (VDT) and cooling (CDT) detection thresholds and heat pain responses. Subjects were divided into asymptomatic carriers (Group 1), paucisymptomatic carriers (Group 2) and stage 1 ATTRv-PN patients (Group 3)...
June 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/36343383/phenotype-and-clinical-outcomes-of-glu89lys-hereditary-transthyretin-amyloidosis-a-new-endemic-variant-in-spain
#57
JOURNAL ARTICLE
Fernando de Frutos, Juan Pablo Ochoa, Cristina Gómez-González, David Reyes-Leiva, Juan I Aróstegui, Carlos Casasnovas, Roberto Barriales-Villa, Teresa Sevilla, Esther Gonzalez-Lopez, Elvira Ramil, Lucia Galan, Jose González-Costello, Ana García-Álvarez, Ricard Rojas-Garcia, Maria Angeles Espinosa, Pablo Garcia-Pavia
BACKGROUND: The p.Glu109Lys variant (Glu89Lys) is a rare cause of hereditary transthyretin amyloidosis (ATTRv) for which clinical spectrum remains unresolved. We sought to describe the clinical characteristics and outcomes of ATTR Glu89Lys amyloidosis and assess a potential founder effect in Spain. METHODS: Patients with the p.Glu109Lys ATTRv variant from 14 families were recruited at 7 centres. Demographics, complementary tests and clinical course were analysed...
June 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/36281984/pulmonary-function-tests-reveal-unrecognised-lung-dysfunction-and-have-independent-prognostic-significance-in-patients-with-systemic-al-amyloidosis
#58
JOURNAL ARTICLE
Georgia Trakada, Despina Fotiou, Anastasios Kallianos, Foteini Theodorakakou, Magdalini Migkou, Maria Gavriatopoulou, Nikolaos Kanellias, Panagiotis Malandrakis, Ioannis Ntanasis-Stathopoulos, Evangelos Eleutherakis-Papaiakovou, Ioanna Dialoupi, Evangelos Terpos, Meletios A Dimopoulos, Efstathios Kastritis
BACKGROUND: Lung involvement in AL amyloidosis is not very common, but post-mortem data and retrospective studies suggest it is likely underrecognized. AIM: To perform a comprehensive evaluation of lung function with pulmonary function tests (PFTs) in patients with newly diagnosed AL amyloidosis. METHODS: A prospective, non-interventional study of 139 consecutive patients with newly diagnosed AL amyloidosis. RESULTS: PFTs indicated normal breathing physiology in 68% of patients, obstructive in 9% and restrictive in 23%; the latter was associated with worse survival (28...
June 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37216473/role-of-complementarity-determining-regions-1-and-3-in-pathologic-amyloid-formation-by-human-immunoglobulin-%C3%AE%C2%BA1-light-chains
#59
JOURNAL ARTICLE
Elena S Klimtchuk, Daniele Peterle, Esther Bullitt, Lawreen H Connors, John R Engen, Olga Gursky
BACKGROUND: Immunoglobulin light chain (LC) amyloidosis is a life-threatening disease complicated by vast numbers of patient-specific mutations. We explored 14 patient-derived and engineered proteins related to κ1-family germline genes IGKVLD-33*01 and IGKVLD-39*01. METHODS: Hydrogen-deuterium exchange mass spectrometry analysis of conformational dynamics in recombinant LCs and their fragments was integrated with studies of thermal stability, proteolytic susceptibility, amyloid formation and amyloidogenic sequence propensity...
May 22, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
https://read.qxmd.com/read/37184951/iatrogenic-cerebral-amyloid-angiopathy-rather-than-sporadic-caa-in-younger-adults-with-lobar-intracerebral-haemorrhage
#60
JOURNAL ARTICLE
J C Purrucker, C Röcken, D Reuss
No abstract text is available yet for this article.
May 15, 2023: Amyloid: the International Journal of Experimental and Clinical Investigation
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