Results 51 to 60 of about 15,555 (263)

Restrictive cardiomyopathy. Presentation of seven cases

Acta Pediátrica de México, 2014
Restrictive cardiomyopathy is a disease characterized by diastolic ventricular failure with increase in telediastolic pressure and systolic function preserved.
Luis Alfonso Fonseca Sánchez, Laura Camacho Reyes, Alfredo Bobadilla Aguirre   +2 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Feline restrictive cardiomyopathy

Veterinary Quarterly, 1997
(1997). Feline restrictive cardiomyopathy. Veterinary Quarterly: Vol. 19, No. sup1, pp. 3-4.
openaire   +2 more sources

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Cytokine pathways driving diverse tissue pathologies in rheumatoid arthritis

Arthritis &Rheumatology, Accepted Article.
Rheumatoid arthritis is a complex systemic disorder characterised primarily by articular inflammation and destruction with associated functional loss and reduced quality of life. RA is also associated with extra‐articular disease e.g. of the lung with potentially devastating clinical consequences.
Aurelie Najm, Lyn D. Ferguson, Iain B. McInnes   +2 more
wiley   +1 more source

Cardiac Amyloidosis: Infiltrative Cardiomyopathy with Restrictive Hemodynamic Behavior – Case Report [PDF]

, 2021
José Leonardo Gomes Rocha Júnior, Ivan Lucas Rocha Liberato, Larissa Ferreira Lopes, Letícia Maria Queiroz Rocha, Christiane Bezerra Rocha Liberato   +4 more
openalex   +1 more source

Defining Optimally Safe and Effective Blood Levels of Hydroxychloroquine in Lupus: An Important Step toward Precision Drug Monitoring

Arthritis &Rheumatology, Accepted Article.
Background Using hydroxychloroquine (HCQ) dose of 5 mg/kg/day in systemic lupus erythematosus (SLE) is associated with a higher risk of flares; HCQ blood level monitoring could be a better way to adjust HCQ dose. We studied the upper threshold for a reference range of HCQ levels to inform routine monitoring.
Shivani Garg, Benoît Blanchet, Yann Nguyen, Fauzia Hollnagel, Ada Clarke, Michelle Petri, Murray B. Urowitz, John G. Hanly, Caroline Gordon, Sang‐Cheol Bae, Juanita Romero‐Diaz, Jorge Sanchez‐Guerrero, Ann E. Clarke, Sasha Bernatsky, Daniel J. Wallace, David A. Isenberg, Anisur Rahman, Joan T. Merrill, Paul R. Fortin, Dafna D. Gladman, Ian N. Bruce, Ellen M. Ginzler, Mary Anne Dooley, Rosalind Ramsey‐Goldman, Susan Manzi, Andreas Jönsen, Graciela S. Alarcón, Ronald F. Van Vollenhoven, Cynthia Aranow, Véronique Le Guern, Meggan Mackay, Guillermo Ruiz‐Irastorza, S. Sam Lim, Murat Inanc, Kenneth C. Kalunian, Søren Jacobsen, Christine A. Peschken, Diane L. Kamen, Anca Askanase, Jill Buyon, Julie Chezel, Alicja Puszkiel, Nathalie Costedoat‐Chalumeau   +42 more
wiley   +1 more source

Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy

American Journal of Perinatology Reports, 2017
Introduction Restrictive cardiomyopathy in fetuses and neonates is extremely rare and has a poor outcome. Its etiology in neonates is elusive: metabolic diseases (e.g., Gaucher, Hurler syndrome), neuromuscular disorders (e.g., muscular dystrophies ...
Pauline Le Van Quyen, Philippe Desprez, Angelo Livolsi, Véronique Lindner, Samira Fafi-Kremer, Pauline Helms, Maria Cristina Antal   +6 more
doaj   +1 more source

Mortality patterns among patients with restrictive cardiomyopathy referred for CMR in a tertiary care center in Latin-America [PDF]

, 2022
Maria Daniela Valderrama Achury, S A Higuera, Julián F. Forero, Claudia Jaimes, Carlos‐Eduardo Guerrero‐Chalela, María Juliana Rodríguez, Frida T. Manrique, Ana María Barragán, John Zuluaga, Antonia Pino-Marín, Héctor M. Medina   +10 more
openalex   +1 more source