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Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.
Int J Mol Sci
February 2025
Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
One out of every hundred live births present with congenital heart abnormalities caused by the aberrant development of the embryonic cardiovascular system. The conserved zinc finger transcription factor proteins, which include GATA binding protein 5 (GATA5) and GATA binding protein (GATA6) play important roles in embryonic development and their inactivation may result in congenital heart defects (CHDs). In this study, we performed genotypic-phenotypic analyses in two families affected by right-sided CHD diagnosed by echocardiography imaging.
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Indian J Otolaryngol Head Neck Surg
January 2025
Otorhinolaryngology, Head and Neck Surgery Department, Royal Medical Service, Manama, Bahrain.
Unlabelled: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare disorder that causes airway obstruction in newborns and children. Patients with CNPAS mainly present with nasal obstruction, respiratory distress, feeding difficulties, and/or failure to thrive. Here, we present the case of a 1-day old male baby born with tachypnea, nasal obstruction, and congestion.
View Article and Find Full Text PDFBilateral intraocular choristoma in a 2-day-old foal.
J Vet Diagn Invest
March 2025
Department of Biomedical Sciences and Pathobiology, Virginia-Maryland College of Veterinary Medicine, Virginia Tech, Blacksburg, VA, USA.
A 2-d-old Warmblood colt was submitted for autopsy with a spectrum of bilateral ocular abnormalities. At postmortem examination, a constellation of lesions within the anterior segment included retention of ectodermal elements, compatible with choristoma. Ocular choristomas can be localized to different intraocular structures and are rare in equids.
View Article and Find Full Text PDFCongenital cytomegalovirus in eastern Uganda: prevalence and outcomes.
BMC Pediatr
March 2025
Centre for International Health, Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Background: Cytomegalovirus (CMV) infection poses risks to both maternal and neonatal health, however there are limited comprehensive data on congenital CMV in low-resource settings where the virus is widespread, particularly among women of reproductive age. Our research in eastern Uganda aimed to assess the prevalence of congenital CMV and outcomes among infants to inform public health policies and interventions in similar settings, addressing a significant gap in current knowledge.
Methods: We conducted a descriptive study, nested within the BabyGel Trial, across Mbale and Budaka districts in eastern Uganda, between May 2023 and January 2024.
Concurrent Compensation for Auditory and Visual Processing in Individuals With Single-Sided Deafness.
Ear Hear
March 2025
Department of Otorhinolaryngology, Peking Union Medical College Hospital, Beijing, People's Republic of China.
Objectives: Auditory deprivation results in functional enhancement of the remaining intact visual modality, and the underlying mechanisms include cross-modal recruitment of additional resources from the auditory cortex and compensatory reorganization of the visual network in bilateral deafness. However, how resources are allocated between hearing and vision has not been determined in patients with partial auditory deprivation. This study aimed to investigate the relationship between functional plasticity of the visual and auditory pathways in patients with congenital single-sided deafness (SSD), a typical partial deprivation condition.
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