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Acta Paediatr
January 2025
Neonatal Research Unit, Health Research Institute La Fe, University and Polytechnics Hospital La Fe, Valencia, Spain.
Congenital heart disease (CHD) includes defects of intrauterine cardiac development that result in alterations to the morphology and/or physiology of the heart, usually expressed early in fetal or postnatal life. This group represents one of the most common congenital anomalies of all living newborns worldwide. Neurodevelopmental deficits are a reality in patients with CHDs and may contribute to significant sequela and long-term morbidity beginning in infancy and extending into adulthood.
View Article and Find Full Text PDFJ Anat
January 2025
Human Health Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
This study aimed to describe the morphological alterations that occur in the midgut and mesentery over time during the herniated phase of the midgut. The primary loop, a single hairpin-shaped loop, becomes recognizable at Carnegie stage (CS) 16. This loop projects toward the umbilical cord and subsequently gives rise to four secondary loops in the midgut of human embryos.
View Article and Find Full Text PDFExp Ther Med
March 2025
Human Genetics Institute 'Dr Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México.
Fanconi anemia (FA) is the most common hereditary bone marrow failure syndrome, with an incidence of 1 in 5,000,000. This disease is caused by an alteration in one of the 23 genes associated with the FA/BRCA DNA repair pathway, which is responsible for repairing interstrand bridges generated during homologous recombination. FA has been associated with a predisposition to other types of neoplasm.
View Article and Find Full Text PDFCan Assoc Radiol J
January 2025
North York General Hospital, Toronto, ON, Canada.
The Canadian Association of Radiologists (CAR) Central Nervous System Expert Panel is made up of physicians from the disciplines of radiology, emergency medicine, neurosurgery, and neurology, a patient advisor, and an epidemiologist/guideline methodologist. After developing a list of 24 clinical/diagnostic scenarios, a rapid scoping review was undertaken to identify systematically produced referral guidelines that provide recommendations for one or more of these clinical/diagnostic scenarios. Recommendations from 55 guidelines and contextualization criteria in the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) for guidelines framework were used to develop 51 recommendation statements across the 24 scenarios.
View Article and Find Full Text PDFPediatr Pulmonol
January 2025
Department of Clinical Research, Faculty of Health sciences, University of Southern Denmark, Odense, Denmark.
Introduction: A main feature of CDH is lung hypoplasia and the related presentation of pulmonary hypertension and cardiac dysfunction. Multiple factors influence pulmonary status after CDH: degree of hypoplasia, ventilator-induced injury, altered growth and development of pulmonary structures, reduced diaphragm function and chest wall abnormalities. The evolution of pulmonary sequela in this population is still unclear.
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