Results 91 to 100 of about 21,545 (230)

Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis [PDF]

Circulation, 2016
Background— Cardiac transthyretin (ATTR) amyloidosis is a progressive and fatal cardiomyopathy for which several promising therapies are in development. The diagnosis is frequently delayed or missed because of the limited specificity of echocardiography and the traditional requirement for histological ...
Gillmore, Julian D, Maurer, Mathew S., Falk, Rodney H., Merlini, Giampaolo, Damy, Thibaud, Dispenzieri, Angela, Wechalekar, Ashutosh D., Berk, John L., QUARTA, CANDIDA CRISTINA, Grogan, Martha, Lachmann, Helen J., Bokhari, Sabahat, Castano, Adam, Dorbala, Sharmila, Johnson, Geoff B., Glaudemans, Andor W. J. M., Rezk, Tamer, Fontana, Marianna, Palladini, Giovanni, Milani, Paolo, Guidalotti, Pierluigi L., Flatman, Katarina, Lane, Thirusha, Vonberg, Frederick W., Whelan, Carol J., Moon, James C., Ruberg, Frederick L., Miller, Edward J., Hutt, David F., Hazenberg, Bouke P., RAPEZZI, CLAUDIO, Hawkins, Philip N.   +31 more
openaire   +7 more sources

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy [PDF]

, 2017
background Transthyretin-related familial amyloid polyneuropathy (TTR-Fap Val30Met) shows a wide variation in age-at-onset (aO) between generations and genders, as in portuguese families, where women display a later onset and a larger anticipation (>10 ...
Alonso, I, Alves-Ferreira, M, Coelho, T, Grazina, M, Lemos, C, Oliveira, P, Santos, D, Santos, MJ, Sequeiros, J, Sousa, A   +9 more
core   +1 more source

Negative [99mTc]Tc ‐DPD Scintigraphy, Presence of Monoclonal Protein and Biopsy Suggestive of AL Amyloidosis in a Patient With Homozygous p.Ala101Val Transthyretin Gene Variant

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Amyloidosis is a rare disease associated with the deposition of misfolded proteins that damage multiple organs, leading to a wide range of symptoms. The most frequently implicated proteins in amyloidosis include immunoglobulin Free Light Chains (FLC), related to AL amyloidosis, and transthyretin (TTR), which is responsible for ATTR amyloidosis.
Paulina Kryszpin, Piotr Jachimowski, Łukasz Augustowski, Mateusz Ziarkiewicz, Grzegorz Basak, Marta Lipowska, Marta Legatowicz‐Koprowska, Bogna Ziarkiewicz‐Wróblewska, Monika Gawor‐Prokopczyk   +8 more
wiley   +1 more source

Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry

Swiss Medical Weekly
AIMS OF THE STUDY: Systemic amyloidoses are rare protein-folding diseases with heterogeneous, often nonspecific clinical presentations. To better understand systemic amyloidoses and to apply state-of-the-art diagnostic pathways and treatment, the ...
Sofie Brouwers, Raphael Heimgartner, Natallia Laptseva, Adriano Aguzzi, Niklas F. Ehl, Thomas Fehr, Felicitas Hitz, Hans H. Jung, Joel Kälin, Markus G. Manz, Beat Müllhaupt, Frank Ruschitzka, Harald Seeger, Georg Stussi, Markus Zweier, Andreas J. Flammer, Bernhard Gerber, Rahel Schwotzer   +17 more
doaj   +1 more source

Technetium-99m pyrophosphate cardiac SPECT in endomyocardial biopsy negative cardiac amyloidosis

Radiology Case Reports, 2018
Cardiac amyloidosis is an under-appreciated cause of heart failure. Establishing a diagnosis is important because traditional heart failure treatment regimens can worsen left ventricular failure in this disease. Endomyocardial biopsy is the gold standard
Martin Krupa, MD, Rina Nguyen, BS, Jonathan Revels, DO, Lester S. Johnson, MD, PhD, FACR   +3 more
doaj   +1 more source

Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis [PDF]

, 2017
Aims: Congo red staining of an endomyocardial biopsy is the diagnostic gold-standard in suspected cardiac amyloidosis (CA), but the procedure is associated with the risk, albeit small, of serious complications, and delay in diagnosis due to the ...
Botcher, N, Fontana, M, Gilbertson, JA, Gillmore, JD, Gonzalez-Lopez, E, Hawkins, PN, Lachmann, HJ, Mahmood, S, Petrie, A, Quarta, CC, Rezk, T, Rowczenio, D, Sachchithanantham, S, Wechalekar, AD, Whelan, CJ, Youngstein, T   +15 more
core   +1 more source

Therapeutic Efficacy and Safety Profile of Eplontersen in Hereditary Transthyretin‐Mediated Amyloidosis: A Systematic Review

Health Science Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background Hereditary transthyretin‐mediated amyloidosis (hATTR) is a disorder that affects several body systems and can result in life‐threatening conditions like cardiomyopathy and polyneuropathy. For treatment of hATTR in the new medical realm, there is a breakthrough discovery of a medicine called Eplontersen, which targets the underlying ...
Zeel Vishnubhai Patel, Verkha Kumari, Paras, Bethineedi Lakshmi Deepak, Priyadarshi Prajjwal, Kolanu Nikhil Deep, Rakhi Bai, Serene Sara John, Omniat Amir Hussin   +8 more
wiley   +1 more source

Guideline of transthyretin-related hereditary amyloidosis for clinicians

Orphanet Journal of Rare Diseases, 2013
Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy.
Ando Yukio, Coelho Teresa, Berk John L, Cruz Márcia Waddington, Ericzon Bo-Göran, Ikeda Shu-ichi, Lewis W David, Obici Laura, Planté-Bordeneuve Violaine, Rapezzi Claudio, Said Gerard, Salvi Fabrizio   +11 more
doaj   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Amiloidose renal: classificação de 102 casos consecutivos [PDF]

, 2014
Amyloidoses are a group of heterogeneous diseases classified according to the nature of their causative amyloid proteins. Commonly, paraffin-embedded tissue is used for the typing of amyloid by immunohistochemistry.
Lobato, L., Moreira, L., Oliveira, J., Pereira, P., Pinho-Costa, P., Sampaio, S., Tavares, I., Vaz, R., Vizcaíno, J.   +8 more
core