Results 21 to 30 of about 16,120 (219)

Hereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report

Journal of Medical Case Reports, 2018
Background Transthyretin amyloidosis is a systemic disorder caused by extracellular deposition of insoluble amyloid fibrils in peripheral and autonomic nerves, heart, kidney, gastrointestinal tract, and other organs.
Hiroyuki Yamamoto, Toru Hashimoto, Shunji Kawamura, Michiaki Hiroe, Taro Yamashita, Yukio Ando, Tomoki Yokochi   +6 more
doaj   +1 more source

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

Transthyretin (TTR) Cardiac Amyloidosis [PDF]

Circulation, 2012
(Uploaded by Plazi for the Bat Literature Project) No abstract provided.
Frederick L, Ruberg, John L, Berk
openaire   +2 more sources

A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin Amyloidosis. [PDF]

J Peripher Nerv Syst
ABSTRACT Background and Aims Hereditary transthyretin amyloidosis (ATTRv) is a multisystemic disease where early neuropathy signs are challenging to detect conventionally. This study aimed to evaluate hand motor performance in ATTRv using the Hand Test System (HTS) across disease stages and examine correlations with standard measures.
Hamedani M, Prada V, Massucco S, Roveta E, Grandis M, Gemelli C, Schiavetti I, Signori A, Schenone C, Luigetti M, Guglielmino V, Sciarrone MA, Vitali F, Pradotto LG, Manganelli F, Tozza S, Palumbo G, Mazzeo A, Gentile L, Russo M, Luca M, D'Arma F, Pisciotta C, Fenu S, Pareyson D, Schenone A.   +25 more
europepmc   +2 more sources

Prognostic impact of light-chain and transthyretin-related categories in cardiac amyloidosis: A systematic review and meta-analysis

Hellenic Journal of Cardiology, 2019
Objective: Light-chain amyloidosis and transthyretin-related amyloidosis (wild-type and mutated) are three main types of systemic amyloidosis associated with a clinically relevant cardiac involvement. In this study, we compared prognosis in patients with
Yanguo Xin, Wenyu Hu, Xin Chen, Jian Hu, Yingxian Sun, Yinan Zhao   +5 more
doaj   +1 more source

Strong positive light chain immunostaining in a patient with transthyretin amyloidosis

Hematology, 2023
The two most common systemic amyloidosis types are immunoglobulin light chain (AL) and amyloid transthyretin (ATTR) amyloidosis, in which the precursor proteins responsible for amyloidosis are light chain and transthyretin, respectively.
Jiao Chen, Haifei Chen, Lingyun Zhou, Danbo Liu, Fang Du, Hongxian Xiang   +5 more
doaj   +1 more source

Diagnosis and treatment of hereditary transthyretin amyloidosis (Hattr) polyneuropathy: Current perspectives on improving patient care [PDF]

, 2020
Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin (TTR) and characterized by multisystem extracellular deposition of ...
Sabatelli M., Bisogni G, Sabatelli M, Luigetti M, Luigetti M., Romano A, Di Paolantonio A   +6 more
core   +1 more source

Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report

Journal of Medical Case Reports, 2017
Background Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy.
Benjamin Terrier, Magali Colombat, Caroline Beugnet, Astrid Quéant, Jonathan London, Jean-Baptiste Daudin, Claire Le Jeunne, Luc Mouthon, Dominique Monnet, Cécile Cauquil, Catherine Lacroix, David Adams, Antoine Brézin, Sophie Valleix   +13 more
doaj   +1 more source

A Late Diagnosis of Transthyretin Amyloidosis [PDF]

Cureus, 2022
Cardiac amyloidosis is a rare disease caused by the accumulation of protein-based fibrils that deposit into the myocardium, causing disease. The accumulation of amyloid in the heart tissue causes the heart to become increasingly stiff, reducing compliance, with the eventual decline of the heart's systolic function over time as the disease progresses ...
Pfirman, Kristopher S, Newton, William, Garst, Collins, Patel, Sharvil, Dawson Dowe, Jacqueline   +4 more
openaire   +2 more sources

A review of transthyretin cardiac amyloidosis

Romanian Journal of Internal Medicine, 2023
Abstract Transthyretin cardiac amyloidosis is a progressive disease known to cause heart failure, conduction anomalies, and arrythmias. Due to poor outcomes and mortality from severe cardiomyopathy, prevalence and incident rates are often underreported.
Jhawar Nikita, Moreno Juan Carlos Leoni, Chirila Razvan   +2 more
openaire   +3 more sources