Frequency of and Prognostic Significance of Cardiac Involvement at Presentation in Hereditary Transthyretin-Derived Amyloidosis and the Value of N-Terminal Pro-B-Type Natriuretic Peptide [PDF]
, 2018 The aim of this study is to assess the prevalence of cardiac involvement in hereditary transthyretin-derived (ATTRm) amyloidosis at the time of diagnosis and to determine the diagnostic and clinical value of N-terminal pro-B-type natriuretic peptide (NT ...
Blokzijl, Hans +7 more
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Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy [PDF]
, 2003 Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Lobato L, Beirão I, Silva M, Bravo F, Silvestre F, Guimarães S, Sousa A, Noël LH, Sequeiros J.
Beirao, I. +8 more
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Transthyretin Amyloidosis and the Kidney [PDF]
Clinical Journal of the American Society of Nephrology, 2012 Summary The amyloidoses are protein-misfolding disorders associated with progressive organ dysfunction. Immunoglobulin light chain is the most common, amyloid A the longest recognized, and transthyretin-associated amyloidosis (ATTR) the most frequent inherited systemic form.
Luísa, Lobato, Ana, Rocha
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JACC: Case Reports, 2020 We have clinically observed that some patients with transthyretin cardiac amyloidosis and severe aortic stenosis may have lesser degrees of calcification than one might expect.
Muzna Hussain, MD +9 more
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The negative acute phase response of serum transthyretin following Streptococcus suis infection in the pig [PDF]
, 2005 Peer reviewedPublisher ...
Andresen, L O +5 more
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Hereditary transthyretin amyloidosis
Neuromuscular Diseases, 2020 Hereditary transthyretin amyloidosis is described in this review, including the TTR gene structure and mutation spectrum, the transthyretin protein structure and functions, the main clinical manifestations of transthyretin amyloidosis. Also the problems of differential diagnosis are discussed, the history of the spread of the disease among various ...
T. A. Adyan, A. V. Polyakov
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Therapeutic Advances in Respiratory Disease, 2023 We present a case report of transbronchial cryobiopsy proven diffuse amyloid cystic lung disease complicating a homozygous Val122Ile (V122I) transthyretin mutated amyloidosis (ATTRm). To the best of our knowledge, this is the first case in the literature
Sébastien Gaultier +6 more
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Single-centre experience on transthyretin familial amyloid polyneuropathy : case series and literature review [PDF]
, 2018 Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, often part of a multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue.
De Bleecker, Jan +2 more
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Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area [PDF]
, 2018 Introduction: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and
Andrés, N. +2 more
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Сardiopylmonary transthyretin amyloidosis
CLINICAL AND EXPERIMENTAL MORPHOLOGY, 2020 Wild type transthyretin amyloidosis (ATTRwt) affects a number of target organs, most commonly the heart. Over the last years, autopsy findings revealed that the lungs are involved in the pathological process more frequently than diagnosed in premortem cases.
Z.V. Gioeva, A.A. Ephiev
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