Results 61 to 70 of about 60,909 (346)

Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing AmyloidosisNovel Teaching Points

CJC Open, 2022
Left ventricular hypertrophy is a common entity with a broad differential diagnosis. We present a case of a middle-aged woman with left ventricular hypertrophy and neuropathy caused by a rare transthyretin variant in the absence of a family history or ...
Ammar G. Chaudhary, MBChB, FRCPC, Fadi M. AlReefi, MD, Riad G. Abou Zahr, MD, FSCMR, Hossam A. Elzeftawy, MD, Saleh S. Alghamdi, MD, Areej A. Bushnag, MD, Jaudah A. Al-Maghrabi, MD, MSc, FRCPC, Iman S. Abumansour, MD   +7 more
doaj   +1 more source

A machine learning model for identifying patients at risk for wild-type transthyretin amyloid cardiomyopathy

Nature Communications, 2021
Transthyretin amyloid cardiomyopathy is a treatable but often unrecognized cause of heart failure. We derived and validated a machine learning model based on medical diagnostic codes that identifies heart failure patients at risk for wild-type ...
Ahsan Huda, Adam Castaño, Anindita Niyogi, Jennifer Schumacher, Michelle Stewart, Marianna Bruno, Mo Hu, Faraz S. Ahmad, Rahul C. Deo, Sanjiv J. Shah   +9 more
doaj   +1 more source

Incidence and risk factors for pacemaker implantation in light‐chain and transthyretin cardiac amyloidosis

European Journal of Heart Failure, 2022
The incidence and risk factors of pacemaker (PM) implantation in patients with cardiac amyloidosis (CA) are largely unexplored. We sought to characterize the trends in the incidence of permanent PM and to identify baseline predictors of future PM ...
A. Porcari, M. Rossi, F. Cappelli, M. Canepa, B. Musumeci, A. Cipriani, G. Tini, G. Barbati, G. G. Varrà, C. Morelli, C. Fumagalli, M. Zampieri, A. Argirò, P. Vianello, Eugenio Sessarego, Domitilla Russo, G. Sinigiani, L. De Michieli, G. Di Bella, C. Autore, F. Perfetto, C. Rapezzi, G. Sinagra, M. Merlo   +23 more
semanticscholar   +1 more source

Transthyretin Stabilizers and Seeding Inhibitors as Therapies for Amyloid Transthyretin Cardiomyopathy

Pharmaceutics, 2023
Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is a progressive and increasingly recognized cause of heart failure which is associated with high mortality and morbidity. ATTR-CM is characterized by the misfolding of TTR monomers and their deposition within the myocardium as amyloid fibrils.
Paolo Morfino, Alberto Aimo, Giuseppe Vergaro, Chiara Sanguinetti, Vincenzo Castiglione, Maria Franzini, Marco Alfonso Perrone, Michele Emdin   +7 more
openaire   +7 more sources

Progression of echocardiographic parameters and prognosis in transthyretin cardiac amyloidosis

European Journal of Heart Failure, 2022
Transthyretin amyloid cardiomyopathy (ATTR‐CM) is an increasingly diagnosed disease. Echocardiography is widely utilized, but studies to confirm the value of echocardiography for tracking changes over time are not available.
L. Chacko, N. Karia, L. Venneri, F. Bandera, Beatrice Dal Passo, Lodovico Buonamici, J. Lazari, A. Ioannou, A. Porcari, R. Patel, Y. Razvi, James T Brown, D. Knight, A. Martinez-Naharro, C. Whelan, C. Quarta, C. Manisty, J. Moon, D. Rowczenio, J. Gilbertson, H. Lachmann, A. Wechelakar, A. Petrie, W. Moody, R. Steeds, L. Potena, Mattia Riefolo, O. Leone, C. Rapezzi, P. Hawkins, J. Gillmore, M. Fontana   +31 more
semanticscholar   +1 more source

Accurate, strong, and stable reporting of choroid plexus epithelial cells in transgenic mice using a human transthyretin BAC

Fluids and Barriers of the CNS, 2018
Background Choroid plexus epithelial cells express high levels of transthyretin, produce cerebrospinal fluid and many of its proteins, and make up the blood-cerebrospinal fluid barrier. Choroid plexus epithelial cells are vital to brain health and may be
Brett A. Johnson, Margaret Coutts, Hillary M. Vo, Xinya Hao, Nida Fatima, Maria J. Rivera, Robert J. Sims, Michael J. Neel, Young-Jin Kang, Edwin S. Monuki   +9 more
doaj   +1 more source

Vitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6. [PDF]

, 2015
Vitamin A has biological functions as diverse as sensing light for vision, regulating stem cell differentiation, maintaining epithelial integrity, promoting immune competency, regulating learning and memory, and acting as a key developmental morphogen ...
Kassai, Miki, Kawaguchi, Riki, Sun, Hui, Ter-Stepanian, Mariam, Zhong, Ming   +4 more
core   +2 more sources

Expert consensus on the monitoring of transthyretin amyloid cardiomyopathy

European Journal of Heart Failure, 2021
Transthyretin amyloid cardiomyopathy (ATTR‐CM) is a life‐threatening condition with a heterogeneous clinical presentation. The recent availability of treatment for ATTR‐CM has stimulated increased awareness of the disease and patient identification ...
P. García-Pavía, Frank Bengel, Dulce Brito, Thibaud Damy, F. Duca, S. Dorbala, J. Nativi-Nicolau, L. Obici, Claudio Rapezzi, Yoshiki Sekijima, Perry M. Elliott   +10 more
semanticscholar   +1 more source

TNF receptor–related factor 3 inactivation promotes the development of intrahepatic cholangiocarcinoma through NF‐κB‐inducing kinase–mediated hepatocyte transdifferentiation

Hepatology, EarlyView., 2022
Abstract Background and Aims Intrahepatic cholangiocarcinoma (ICC) is a deadly but poorly understood disease, and its treatment options are very limited. The aim of this study was to identify the molecular drivers of ICC and search for therapeutic targets.
Yuto Shiode, Takahiro Kodama, Satoshi Shigeno, Kazuhiro Murai, Satoshi Tanaka, Justin Y. Newberg, Jumpei Kondo, Shogo Kobayashi, Ryoko Yamada, Hayato Hikita, Ryotaro Sakamori, Hiroshi Suemizu, Tomohide Tatsumi, Hidetoshi Eguchi, Nancy A. Jenkins, Neal G. Copeland, Tetsuo Takehara   +16 more
wiley   +1 more source

Familial amyloid polyneuropathy TTR Cys 114 in monozygotic twin brothers (clinical case)

Нервно-мышечные болезни, 2017
Transthyretin amyloidosis (ATTR) is a hereditary autosomal dominant disease. Its symptoms depend on polymorphisms of the transthyretin gene and include disorders of the peripheral nervous system and internal organs.
M. O. Kovalchuk, I. A. Strokov
doaj   +1 more source