Results 11 to 20 of about 244,546 (216)

The role of sodium channels in sudden unexpected death in pediatrics

Molecular Genetics & Genomic Medicine, 2020
Background Sudden Unexpected Death in Pediatrics (SUDP) is a tragic event, likely caused by the complex interaction of multiple factors. The presence of hippocampal abnormalities in many children with SUDP suggests that epilepsy‐related mechanisms may ...
Anne M. Rochtus, Richard D. Goldstein, Ingrid A. Holm, Catherine A. Brownstein, Eduardo Pérez‐Palma, Robin Haynes, Dennis Lal, Annapurna H. Poduri   +7 more
doaj   +1 more source

Clinical course of patients with hypertrophic cardiomyopathy away from tertiary referral care

ESC Heart Failure, 2023
Aims Data on the clinical course of hypertrophic cardiomyopathy (HCM) are mainly derived from tertiary HCM centre studies, and knowledge of clinical outcomes of patients leaving specialty care and returning to local physicians is limited due to gaps ...
Ramin Garmany, J. Martijn Bos, Steve R. Ommen, Michael J. Ackerman, Jeffrey B. Geske   +4 more
doaj   +1 more source

Inherited Arrhythmogenic Syndromes

Cardiogenetics, 2023
Inherited arrhythmogenic syndromes (IASs) are a heterogeneous group of rare cardiac entities of genetic origin [...]
Georgia Sarquella-Brugada, Oscar Campuzano   +1 more
doaj   +1 more source

The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths

Frontiers in Medicine, 2023
A definitive, authoritative approach to evaluate the causes of unexpected, and ultimately unexplained, pediatric deaths remains elusive, relegating final conclusions to diagnoses of exclusion in the vast majority of cases.
Monica H. Wojcik, Monica H. Wojcik, Monica H. Wojcik, Monica H. Wojcik, Annapurna H. Poduri, Annapurna H. Poduri, Annapurna H. Poduri, Annapurna H. Poduri, Ingrid A. Holm, Ingrid A. Holm, Ingrid A. Holm, Calum A. MacRae, Calum A. MacRae, Richard D. Goldstein, Richard D. Goldstein, Richard D. Goldstein   +15 more
doaj   +1 more source

Definition of Sudden Infant Death and Sudden Intrauterine Unexpected Death Syndromes (SIDS and SIUDS) with Regard to the Anatomo-Pathological Examination

Frontiers in Pediatrics, 2016
Crib death, or sudden infant death syndrome (SIDS), is the most frequent form of death in the first year of life, striking one baby in every 1,700–2,000.
Giulia Ottaviani
doaj   +1 more source

Adverse effects of prenatal tobacco smoke exposure on biological parameters of the developing brainstem

Neurobiology of Disease, 2005
We aimed to study the consequences of chronic exposure to tobacco smoke in utero on the morphological and functional maturation of the brainstem by comparing stillbirths of smoker mothers versus nonsmoker mothers.
Anna Maria Lavezzi, Giulia Ottaviani, Luigi Matturri   +2 more
doaj   +1 more source

Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy

Scientific Reports, 2023
Hypertrophic cardiomyopathy (HCM) is a genetically heterogenous condition with about half of cases remaining genetically elusive or non-genetic in origin.
Ramin Garmany, J. Martijn Bos, Surendra Dasari, Kenneth L. Johnson, David J. Tester, John R. Giudicessi, Cristobal dos Remedios, Joseph J. Maleszewski, Steve R. Ommen, Joseph A. Dearani, Michael J. Ackerman   +10 more
doaj   +1 more source

Comparison of electrocardiograms (ECG) waveforms and centralized ECG measurements between a simple 6‐lead mobile ECG device and a standard 12‐lead ECG

Annals of Noninvasive Electrocardiology, 2021
Background Interval duration measurements (IDMs) were compared between standard 12‐lead electrocardiograms (ECGs) and 6‐lead ECGs recorded with AliveCor's KardiaMobile 6L, a hand‐held mobile device designed for use by patients at home.
Robert Kleiman, Borje Darpo, Randy Brown, Todd Rudo, Svetlana Chamoun, David E. Albert, Johan Martijn Bos, Michael J. Ackerman   +7 more
doaj   +1 more source

Brugada Syndrome and GPD1L: Definite Genotype-Phenotype Association?

Cardiogenetics
The GPD1L gene encodes a small cytoplasmic protein that is involved in the regulation of sodium currents. Alterations in this gene have been associated with Brugada syndrome.
Andrea Greco, Estefanía Martínez-Barrios, José Cruzalegui, Sergi Cesar, Fredy Chipa, Nuria Díez-Escuté, Patricia Cerralbo, Irene Zschaeck, Paula Loredo, Georgia Sarquella-Brugada, Oscar Campuzano   +10 more
doaj   +1 more source

Genetics of Heritable Thoracic Aortic Disease

Cardiogenetics, 2022
Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate ...
Efstathios Papatheodorou, Dimitrios Degiannis, Aris Anastasakis   +2 more
doaj   +1 more source