Results 121 to 130 of about 173,062 (307)

Role of SoxE transcription factors in development and disease

Developmental 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

Secretopathies emerge as a new class of neurocristopathies

Developmental 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, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Contribution of hypoxia-inducible factor 1alpha to pathogenesis of sarcomeric hypertrophic cardiomyopathy

Scientific Reports
Hypertrophic cardiomyopathy (HCM) caused by autosomal-dominant mutations in genes coding for structural sarcomeric proteins, is the most common inherited heart disease.
Sarala Raj Murthi, Andreas Petry, Bachuki Shashikadze, Jan B. Stöckl, Manuel Schmid, Gianluca Santamaria, Karin Klingel, Damir Kračun, Xinpei Chen, Sabine Bauer, Joachim P. Schmitt, Florian Flenkenthaler, Josh Gorham, Christopher N. Toepfer, David Potěšil, Pavel Hruška, Zbyněk Zdráhal, Zsuzsanna Mayer, Mathieu Klop, Luisa Lehmann, Yishi Qin, Laura Papanakli, Nadine Spielmann, Alessandra Moretti, Thomas Fröhlich, Peter Ewert, Stefan Holdenrieder, Jonathan G. Seidman, Christine E. Seidman, Agnes Görlach, Cordula M. Wolf   +30 more
doaj   +1 more source

Prevalence and predictors of later feeding disorders in children who underwent neonatal cardiac surgery for congenital heart disease [PDF]

, 2017
Aim We thought of assessing the prevalence and predictors of feeding disorders in patients with congenital heart defects after neonatal cardiac surgery.
Balmer, Christian, Bauersfeld, Urs, Geissmann, Hilda, Knirsch, Walter, Latal, Beatrice, Maurer, Ilona   +5 more
core  

Safety and Perioperative Outcomes of Immediate Versus Delayed Sequential Bilateral Cataract Surgery in the Pediatric Population: A Systematic Review and Meta‐Analysis

Eye &ENT Research, EarlyView.
ABSTRACT Background Bilateral congenital cataracts are a major cause of preventable childhood blindness. Although delayed sequential bilateral cataract surgery (DSBCS) has traditionally been the preferred approach, immediate sequential bilateral cataract surgery (ISBCS) is increasingly being considered to reduce anesthesia exposure and healthcare ...
Mehreen Akram, Zarwa Rashid, Hafiz Aqib Ilyas, Danyal Bakht, Muhammad Arham, Syed Ali Ahsan, Sheraz Ali, Faryal Bakht, Zubaida Hanif   +8 more
wiley   +1 more source

Juxtaposition of the atrial appendages in a patient with a simple ventricular septal defectCentral Message

JTCVS Techniques, 2021
Julie Cleuziou, MD, PhD, MBA, Jakob Kemmer, MD, Ursula Sauer, MD, Milka Pringsheim, MD   +3 more
doaj   +1 more source

Epidemiology of congenital heart defects in France from 2013 to 2022 using the PMSI-MCO (French Medical Information System Program in Medicine, Surgery, and Obstetrics) database.

PLoS ONE
BackgroundCongenital heart defects are common and occur in approximately 0.9% of births. In France, the registries cover approximately 20% of the population but not the entirety of France; therefore, we aimed to update the incidence data for congenital ...
Gurvan Bourdon, Xavier Lenne, François Godart, Laurent Storme, Didier Theis, Damien Subtil, Amelie Bruandet, Thameur Rakza   +7 more
doaj   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Intraoperative sodium range affects white matter microstructure in neonatal congenital heart disease

International Journal of Cardiology Congenital Heart Disease
Background: Intraoperative sodium changes and new postoperative white matter injury are prevalent in neonates with congenital heart disease (CHD) who undergo cardiopulmonary bypass surgery. Rapid sodium correction in hyponatremia is associated with white
Mirthe E.M. van der Meijden, Kim van Loon, Maaike Nijman, Hanna Talacua, Johannes M.P.J. Breur, Joppe Nijman, Nathalie H.P. Claessens, Serena J. Counsell, Manon J.N.L. Benders, Alexandra F. Bonthrone   +9 more
doaj   +1 more source

Delivery of care for adult patients with congenital heart disease in Europe: results from the Euro Heart Survey [PDF]

, 2017
Aims The increasing number of adults with congenital heart disease (CHD) has prompted the development of recommendations for the management of these patients and for the organization of their healthcare. The aim of this report is to describe the delivery
Engelfriet, Peter, Kaemmerer, Harald, Meijboom, Folkert J., Moons, Philip, Mulder, Barbara J.M., Oechslin, Erwin   +5 more
core