Results 31 to 40 of about 41,700 (238)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Clinical Markers of the Heart and Blood Vessels Syntropic Lesions in Patients with Systemic Lupus Erythematosus, Their Diagnostic Value (First Notice)

open access: yesЛьвівський клінічний вісник
Introduction. Systemic lupus erythematosus (SLE) is an autoimmune rheumatic disease with numerous clinical manifestations that affects any organs or systems and requires a comprehensive study. The aim of the study. To find out the clinical markers of
Л. О. Кобак   +6 more
doaj   +1 more source

Cardiologic evaluation of children with suspected heart disease: experience of a public outpatient clinic in Brazil

open access: yesSão Paulo Medical Journal, 1999
CONTEXT: During initial evaluation of children on an outpatient basis, the index of suspected heart disease may be high, particularly if we consider that innocent murmur occurs in about 50% of the pediatric population.
Fernando Amaral, João Antonio Granzotti
doaj   +1 more source

Impacts of body donor non‐anonymization on students' educational and humanistic development: A systematic review

open access: yesAnatomical Sciences Education, EarlyView.
Abstract A recent trend in healthcare education has been the increasing emphasis on the development of humanism and empathy in students. Within anatomy education, some institutions have implemented curricular innovations such as donor non‐anonymization to facilitate this development.
Rodrigo Muscogliati   +5 more
wiley   +1 more source

Utility of the joint index in newborn congenital heart disease screening

open access: yesScientific Reports
To examine the value of“joint index”in the early and rapid screening of congenital heart disease (CHD) in newborns. The study selected live-born neonates who were delivered in the Department of Obstetrics and Gynecology at Sichuan Provincial People’s ...
Mengwen Li   +4 more
doaj   +1 more source

Erwin Schrödinger und die Versuchungen der (Wissenschafts‐)Biografik: Vorurteilsgefüge und Mechanismen der Skandalisierung

open access: yesBerichte zur Wissenschaftsgeschichte, EarlyView.
Since late 2021, serious allegations have been made against physicist Erwin Schrödinger, ranging from pedophilia to serial sexual abuse. These accusations have significantly tarnished the Nobel Prize winner's public reputation. The ongoing debate has repeatedly raised the question of whether, and to what extent, these grave allegations are justified ...
Magdalena Gronau, Martin Gronau
wiley   +1 more source

A survey on the prevalence of heart murmurs in polo horses [PDF]

open access: yesIranian Journal of Veterinary Medicine, 2019
Background: Cardiac murmur and subsequently cardiac failure is one of the poor-performance causes in athletic horses. Attention to murmur character is vital during heart examination.
Mohammad reza Mokhber Dezfouli   +3 more
doaj   +1 more source

Pathophysiologic Consequences of Early Coarctation Stenting in a Longitudinal Porcine Model

open access: yesCatheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Novel stent technologies offer early intravascular treatment options for coarctation (COA). Mid‐to‐long‐term cardiovascular responses to early COA stent interventions are undefined. Aims We studied a porcine model of COA, with and without early stent implantation with serial dilation to adult aortic diameters, aiming to define ...
Leah M. Gober   +7 more
wiley   +1 more source

Soplo cardíaco en menores de 2 años: buscando una estrategia de derivación eficiente y segura

open access: yesAnales de Pediatría, 2018
Resumen: Introducción: La Sociedad Española de Cardiología Pediátrica y Cardiopatías Congénitas recomienda realizar ecocardiografía transtorácica (ETT) en todo menor de 2 años con soplo.
Moisés Rodríguez-González   +5 more
doaj   +1 more source

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li   +12 more
wiley   +1 more source

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