Results 231 to 240 of about 570,477 (309)

Aborted sudden cardiac event in pediatric restrictive cardiomyopathy: When ST changes on ambulatory monitoring matter. [PDF]

HeartRhythm Case Rep
Christmas A, Nasman C, Boyle G, Patel A, Aziz P, El Assaad I.   +5 more
europepmc   +1 more source

Metabolic remodelling in anthracycline cardiotoxicity: mechanisms and therapeutic insights

British Journal of Pharmacology, EarlyView.
Cardiac metabolic remodelling in anthracycline‐induced cardiomyopathy and metabolically oriented cardioprotective strategies. Schematic representation of substrate utilization, mitochondrial bioenergetic function and metabolic flexibility in the healthy heart, in anthracycline‐induced cardiomyopathy and under potential cardioprotective interventions ...
Giulia Guerra, Francesco Niro, Marco Mergiotti, Giovanni Gavatorta, Emilio Hirsch, Alessandra Ghigo   +5 more
wiley   +1 more source

Prognostic implications of multiple chamber longitudinal strains and myocardial work in restrictive cardiomyopathy. [PDF]

Sci Rep
Li X, Liu X, Feng X, Guo T, Liu G, Wu D, Liu Y, Lai J, Liu Y, Lin X, Fang L, Chen W.   +11 more
europepmc   +1 more source

Hypercontractile mutant of ventricular myosin essential light chain leads to disruption of sarcomeric structure and function and results in restrictive cardiomyopathy in mice

Cardiovascular Research, 2017
C. Yuan, K. Kaźmierczak, Jingsheng Liang, Rosemeire M. Kanashiro‐Takeuchi, T. Irving, A. Gomes, Yihua Wang, T. Burghardt, Danuta Szczesna‐Cordary   +8 more
semanticscholar   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

cTnIR193H restrictive cardiomyopathy mice satisfy high-energy metabolic demands through regulating glucose metabolism. [PDF]

Genes Dis
Luo M, Liu L, Yuan W, Quan J, Li M, Tian J.   +5 more
europepmc   +1 more source

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole‐Exome Sequencing: Insights Into Early‐Onset and Syndromic Forms

Clinical Genetics, EarlyView.
Pediatric cardiomyopathies (CM) are a heterogeneous group of disorders. Their genetic basis remains poorly defined, particularly in children with early‐onset and apparently isolated forms. With a diagnostic yield of 62.7%, our findings suggest that whole‐exome sequencing could improve the diagnosis, genetic counseling, and clinical management of ...
Luana Giovannangeli, Elise Daire, Kahia Messaoudi, Didier Herent, Nathalie Desjeux, Emilie Lacot‐Leriche, Sarah Sauval, Sabine Dirani, Pascal De Groote, Didier Klug, Jean‐Benoit Baudelet, Alexandre Delarue, Olivia Domanski, Pierre‐Alexandre Fontanges, Jamal Ghoumid, Luisa Marsili, Alexis Hermida, Florence Jobic, Guillaume Jedraszak   +18 more
wiley   +1 more source

The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report. [PDF]

BMC Cardiovasc Disord
Han Y, Wang H, Zhang H, Wang M, Gan L, Meng F.   +5 more
europepmc   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Galectina-3 na Pericardite Constritiva Crônica: Informações Precisas para o Bom Médico

Arquivos Brasileiros de Cardiologia
Wolney de Andrade Martins
doaj   +1 more source