Results 51 to 60 of about 47,442 (285)

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Long‐Term Outcomes of Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation for Systemic Sclerosis Patients with Impaired Cardiac Function

Arthritis &Rheumatology, Accepted Article.
Objective High intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced SSc. The role of reduced intensity conditioning (RIC) prior to AHSCT in this population remains unclear. We conducted this study to determine the long‐term outcomes of RIC AHSCT in SSc patients with cardiac ...
Yonatan Lean, Carrie Richardson, Anthony Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

Brain embolic infarction associated with cardiac amyloidosis in a patient with multiple myeloma: a bone marrow-heart-brain crosstalk [PDF]

Precision and Future Medicine, 2018
Cardiac amyloidosis is characterized by the extracellular fibril deposition of amyloid protein in the myocardium. Cerebral embolism caused by cardiac amyloidosis is rare.
Jaeho Kim, Jaehong Park, Sung-Ji Park, Sung Mok Kim, Kihyun Kim, Jong-Won Chung, Oh Young Bang   +6 more
doaj   +1 more source

Incidence and effect of secondary cardiac amyloidosis on outcomes of patients with t(11;14) multiple myeloma

Frontiers in Cardiovascular Medicine, 2022
BackgroundThe t(11;14)(q13;32) is a common chromosome translocation in multiple myeloma (MM), but its prognostic value remains controversial. Immunoglobulin light chain amyloidosis is commonly secondary to multiple myeloma, which can rapidly cause heart ...
Jinghua Wang, Shuo Yang, Pengjun Liao, Lingji Zeng, Wei Ling, Li Wan, Jianyu Weng, Liye Zhong   +7 more
doaj   +1 more source

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, De Pauw, Michel, Martens, Broes   +2 more
core   +2 more sources

Causal Effects of Hydrophilic Bile Acids on Carfilzomib‐Related Cardiovascular Events in Multiple Myeloma: A Mendelian Randomization Study

Clinical Pharmacology &Therapeutics, EarlyView.
Carfilzomib is highly effective in the treatment of multiple myeloma, but it has been associated with cardiovascular adverse events that impact patient outcomes. Our prior global metabolomic analyses indicated an association between hydrophilic bile acids and carfilzomib‐cardiotoxicity risk, although a causal relationship remained to be determined ...
Samia Shabnaz, Eric Farber‐Eger, Marwa Tantawy, Neyousha Shahisavandi, Timothy J. Garrett, Samuel M. Rubinstein, Michael G. Fradley, Mohammed E. Alomar, Danny DeAvila, Kenneth H Shain, R. Frank Cornell, Daniel Lenihan, Qing Lu, Quinn S Wells, Rachid C. Baz, Yan Gong   +15 more
wiley   +1 more source

Ventricular Arrhythmias in Cardiac Amyloidosis: A Review of Current Literature

Clinical Medicine Insights: Cardiology, 2020
Cardiac Amyloidosis is an infiltrative cardiomyopathy which occurs secondary to deposition of mis-folded protein in the myocardium, with the two most common subtypes being AL amyloidosis and TTR amyloidosis.
Shaun Khanna, Phillip Lo, Kenneth Cho, Rajesh Subbiah   +3 more
doaj   +1 more source

Progression and prognostic significance of electrocardiographic findings in patients with cardiac amyloidosis

ESC Heart Failure, Volume 12, Issue 2, Page 809-818, April 2025.
Abstract Aims This study aimed to evaluate the change of the main electrocardiographic (ECG) characteristics and their prognostic role across the main subtypes of cardiac amyloidosis [light‐chain amyloidosis (AL) and hereditary (ATTRv) and wild‐type transthyretin amyloidosis (ATTRwt)].
Alessia Argirò, Mattia Zampieri, Carlotta Mazzoni, Carlo Fumagalli, Michela Baccini, Alessandra Mattei, Alberto Cipriani, Laura De Michieli, Aldostefano Porcari, Gianfranco Sinagra, Marco Merlo, Giacomo Tini, Beatrice Musumeci, Domitilla Russo, Pier Filippo Vianello, Marco Canepa, Roberto Licordari, Gianluca di Bella, Claudio Rapezzi, Federico Perfetto, Francesco Cappelli   +20 more
wiley   +1 more source

The great simulator [PDF]

, 1993
Cardiac myxoma often simulates multisystem disease and initially defies diagnosis. In this paper, we present three cases of cardiac myxoma in adults.
Aquilina, Oscar, Fenech, Frederick F., Mallia, Carmel   +2 more
core  

Cardiac T1 Mapping and Extracellular Volume (ECV) in clinical practice: a comprehensive review. [PDF]

, 2016
Cardiovascular Magnetic Resonance is increasingly used to differentiate the aetiology of cardiomyopathies. Late Gadolinium Enhancement (LGE) is the reference standard for non-invasive imaging of myocardial scar and focal fibrosis and is valuable in the ...
A Gulati, AM Maceira, C Parsai, CT Sibley, D Carrick, D Carrick, Daniel R. Messroghli, David A. Broadbent, DC Look, DM Sado, DM Sado, DM Sado, DO h-Ici, DR Messroghli, E Dall’Armellina, F aus dem Siepen, FL Ruberg, G Todiere, GC Fonarow, H Xue, H Xue, JA McCrohon, JC Moon, JM Bakker de, JN Dungu, John P. Greenwood, JP Carpenter, JT Clarke, K Chow, KS Patel, M Fontana, M Ugander, MG Friedrich, MS Maron, MY Su, N Kawel, N Kawel-Boehm, NA Ntusi, NA Ntusi, P Gujja, P Kellman, P Kellman, Pankaj Garg, Philip Haaf, PP Swoboda, RB Thompson, RJ Kim, S Dass, S Weingärtner, SK Piechnik, SM Banypersad, Sven Plein, UK Radunski, VM Ferreira, VM Ferreira, VM Ferreira, VO Puntmann, WG Hundley, Y Kobayashi   +58 more
core   +3 more sources