Results 121 to 130 of about 3,896,028 (254)

Adolescents with congenital heart diseases [PDF]

open access: yes, 2010
The remarkable improvement in pediatric cardiosurgery observed over the last few decades has meant that many patients with congenital heart diseases have entered adult life.
Trojnarska, Olga; 1st Department of Cardiology, Poznań University of Medical Sciences, Poznań, Poland
core  

National quality register of congenital heart diseases – Can we trust the data?

open access: yes, 2017
Background: The SWEDish registry of CONgenital heart disease is a Swedish national quality register for collecting data on pediatric and adult (GUCH) patients with congenital heart diseases that aims to improve medical practice and research.
Gudrun Björkhem   +11 more
core   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

open access: yesCytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen   +3 more
wiley   +1 more source

Percutaneous pulmonary valve implantation in a patient with congenitally corrected transposition of the great arteries: a case report

open access: yesJournal of Medical Case Reports
Background Percutaneous pulmonary valve implantation has become an attractive method of dysfunctional right ventricle outflow tract treatment. Case presentation We describe a unique case of a 20-year-old Caucasian male patient with a complex cyanotic ...
Michal Kapalka   +3 more
doaj   +1 more source

Clinical Model‐Informed Precision Dosing Consult Service for Accelerating Personalized Medication in Pediatric Patients

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Traditional dosing strategies often rely on a “one‐size‐fits‐all” paradigm, assuming an “average” patient with typical demographic and pharmacological characteristics. In reality, this often overlooks existing between‐patient variability and can lead to suboptimal drug exposure or toxicity. This issue is especially pronounced in pediatric patients, who
Zachary L. Taylor   +12 more
wiley   +1 more source

Maternal Dipyrone Exposure and Risk of Major Congenital Malformations, Adverse Perinatal and Postnatal Outcomes: A Population‐Based Cohort Study

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Pain and fever are common in pregnancy. Dipyrone is widely used in Europe, Latin America, and parts of Asia, but is banned in other countries due to concerns about agranulocytosis. Evidence on its safety in pregnancy remains limited and inconsistent. This study aimed to evaluate whether maternal dipyrone use during the first‐ and third‐trimesters is ...
Itamar Ben Shitrit   +7 more
wiley   +1 more source

Role of SoxE transcription factors in development and disease

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Delayed diagnosis of arterial hypertension in young woman with coarctation of the aorta coexisting with arteria lusoria

open access: yesCardiology Journal, 2020
Ilona Michałowska   +3 more
doaj   +1 more source

Secretopathies emerge as a new class of neurocristopathies

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira   +3 more
wiley   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick   +3 more
wiley   +1 more source

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