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Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDF4D flow cardiac magnetic resonance in pediatric congenital heart disease: Insights from over four years of clinical practice.
Clin Imaging
January 2025
Institute of Clinical sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Dept of Pediatric Radiology, The Queen Silvia Children's Hospital, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.
Background: Congenital heart diseases (CHDs) are common birth defects. This work presents over four years of clinical experience of 4D flow cardiovascular magnetic resonance (CMR), highlighting its value for pediatric CHD.
Methods: Children with various CHD diagnoses (n = 298) were examined on a 1.
Pooled prevalence and subgroup variations of Tetralogy of Fallot among children and adolescents with congenital heart defect in Sub-Saharan Africa: A systematic review and meta-analysis.
PLoS One
January 2025
Department of Anatomy, School of Medicine, Addis Ababa University, Addis Ababa, Ethiopia.
Background: Tetralogy of Fallot is one of the critical congenital heart defects needing intervention within the first year of life.
Objective: This review aims to systematically assess the prevalence of Tetralogy of Fallot among children and adolescents with congenital heart defects in Sub-Saharan Africa from January 2000 to January 2024.
Methods: All original observational studies focused on children and adolescent population diagnosed with congenital heart defects within Sub-Saharan Africa; reported the primary outcome of interest were included.
Inpatient Audiologic Services Facilitate Early Hearing Detection.
Am J Audiol
January 2025
Division of Clinical Therapies, Department of Audiology, Nationwide Children's Hospital, Columbus, OH.
Purpose: Infants needing neonatal intensive care unit (NICU) intervention have protracted timelines for diagnosis after not passing their newborn hearing screening despite being at higher risk for congenital hearing loss. The primary aim of this study was to evaluate the outcomes of early hearing detection for infants with a history of NICU admission. The secondary aim was to determine if diagnostic audiology services within the NICU setting accelerated diagnosis and intervention.
View Article and Find Full Text PDFGiant pulmonary vein aneurysm.
Indian J Thorac Cardiovasc Surg
February 2025
Department of Cardiovascular Radiology & Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, 110029 India.
We report a case of a 14-year-old girl with complex congenital heart disease where computed tomography (CT) angiography demonstrated a giant aneurysm of the right inferior pulmonary vein, in the absence of any downstream obstruction. The case highlights the developmental aspects of this rare anomaly in addition to the role of CT angiography in anatomical depiction of structures which are difficult to visualize on transthoracic echocardiography.
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