Results 1 to 10 of about 21,545 (230)

Transthyretin Amyloidosis: Chaperone Concentration Changes and Increased Proteolysis in the Pathway to Disease. [PDF]

PLoS ONE, 2015
Transthyretin amyloidosis is a conformational pathology characterized by the extracellular formation of amyloid deposits and the progressive impairment of the peripheral nervous system.
Gonçalo da Costa, Cristina Ribeiro-Silva, Raquel Ribeiro, Samuel Gilberto, Ricardo A Gomes, António Ferreira, Élia Mateus, Eduardo Barroso, Ana V Coelho, Ana Ponces Freire, Carlos Cordeiro   +10 more
doaj   +3 more sources

Emerging Therapeutics for the Treatment of Light Chain and Transthyretin Amyloidosis [PDF]

JACC: Basic to Translational Science, 2019
Summary: Cardiac amyloidosis is a restrictive cardiomyopathy that results from the deposition of misfolded light chain or transthyretin proteins, most commonly, in cardiac tissue.
Kathleen W. Zhang, MD, Keith E. Stockerl-Goldstein, MD, Daniel J. Lenihan, MD   +2 more
doaj   +3 more sources

Systemic Transthyretin Amyloidosis Incidentally Diagnosed With Prostate Biopsy: A Case Report [PDF]

IJU Case Reports
Introduction The diagnosis of systemic transthyretin amyloidosis based on prostate biopsy is very rare, and we report this case with a literature review.
Michihide Nakamura, Shinnosuke Kuroda, Takashi Kawahara, Erika Muraoka, Genya Iwamoto, Kota Shimokihara, Takeaki Noguchi, Masanobu Yamazaki, Akihito Hashizume, Daiji Takamoto, Rie Horii, Satoshi Fujii, Miki Tanoshima, Junichi Teranishi, Hiroji Uemura   +14 more
doaj   +2 more sources

Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags [PDF]

Scientific Reports
Transthyretin (TTR) amyloidosis manifests in two distinct forms: hereditary (ATTRv) and wild-type transthyretin amyloidosis (ATTRwt). Despite being one of the commonest manifestations in ATTRv amyloidosis, the presence of polyneuropathy has long been ...
Janna M. Siemer, Lea Grote-Levi, Anja Hänselmann, Mieke L. Sassmann, Sandra Nay, Dominica Ratuszny, Sonja Körner, Tabea Seeliger, Martin W. Hümmert, Maike F. Dohrn, André Huss, Hayrettin Tumani, Vega Gödecke, Michael Heuser, Johann Bauersachs, Udo Bavendiek, Thomas Skripuletz, Stefan Gingele   +17 more
doaj   +2 more sources

Restrictive Atrial Dysfunction in Cardiac Amyloidosis: Differences between Immunoglobulin Light Chain and Transthyretin Cardiac Amyloidosis Patients

Biomedicines, 2022
Background: In cardiac amyloidosis, the prevalence of thromboembolic events and atrial fibrillation is higher in transthyretin amyloidosis compared to immunoglobulin light chain amyloidosis.
Mathijs O. Versteylen, Maaike Brons, Arco J. Teske, Marish I. F. J. Oerlemans   +3 more
doaj   +1 more source

Cardiac Transthyretin Amyloidosis: Hidden in Plain Sight

Case Reports in Medicine, 2021
Amyloidosis is an underappreciated medical condition with symptoms camouflaging as common medical comorbidities leading to its underdiagnosis due to its systemic involvement.
Constantine N. Logothetis, Joel Fernandez, Damian A. Laber   +2 more
doaj   +1 more source

Biopsy Evidence of Sequential Transthyretin and Immunoglobulin Light-Chain Cardiac Amyloidosis in the Same Patient

JACC: Case Reports, 2021
Currently adopted diagnostic flow charts consider transthyretin and light-chain cardiac amyloidosis as mutually exclusive. Here, we report for the first time, to our knowledge, the demonstration of a biopsy-proven dual pathology in an 80-year-old man ...
Giuseppe Vergaro, MD, PhD, Vincenzo Castiglione, MD, Roberta Poletti, MD, Gabriele Buda, MD, Angela Pucci, MD, PhD, Veronica Musetti, BSc, Dario Genovesi, MD, Alberto Aimo, MD, Claudio Passino, MD, Michele Emdin, MD, PhD   +9 more
doaj   +1 more source

Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study [PDF]

, 2020
Background Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities.
Coelho, Teresa, Conceição, Isabel, Costa, João, de Carvalho, Mamede, Ferreira, Lara, Inês, Mónica   +5 more
core   +2 more sources

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

Annals of Medicine, 2021
Background Hereditary Transthyretin-Related Amyloidosis, a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the TTR gene, is characterized by the deposition of insoluble misfolded protein fibrils.
Volha Skrahina, Ulrike Grittner, Christian Beetz, Thomas Skripuletz, Martin Juenemann, Heidrun H. Krämer, Katrin Hahn, Andreas Rieth, Volker Schaechinger, Monica Patten, Christian Tanislav, Stephan Achenbach, Birgit Assmus, Fabian Knebel, Stefan Gingele, Aliaksandr Skrahin, Jörg Hartkamp, Toni M. Förster, Sabine Roesner, Catarina Pereira, Arndt Rolfs   +20 more
doaj   +1 more source

The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa [PDF]

, 2016
Transthyretin (TTR) pV142I (rs76992529-A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I ...
Alexander, Alice A, Buxbaum, Joel N., Garvey, W. T, Jacobson, Daniel R, Kalidi, Issa, Modiano, David, Sirima, Sodiomon B, Tagoe, Clement, Tishkoff, Sara, Toure, Amadou, Williams, Scott M   +10 more
core   +1 more source