Chile has experienced advances in the primary prevention of congenital defects. This article review separately the pre-conception and pre-natal prevention. The first avoids the production of a defective embryo and the latter avoids the effects of external agents, such as environmental teratogens, over a normaly conceived embryo. The preventive measures include education about the use of medications, lifestyles, alcohol and drug use and prenatal control of pregnant women. Special mention deserves nation wide programs held by the ministry of Health such as mandatory rubella vaccination, flour folic acid fortification and metabolic screening of phenylketonuria and congenital hypothyroidism. The role of the main chemical, physical and infectious teratogens is reviewed. A Decalogue of recommendations for primary prevention, elaborated by the Latin American Collaborative Study for Congenital Defects, is included.
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http://dx.doi.org/10.4067/s0034-98872004000400014 | DOI Listing |
BMC Pulm Med
January 2025
Department of Respiratory Medicine, The Second Hospital of Jilin University, No. 4026 Yatai street, Changchun, 130041, Jilin, China.
Background: Ectopic thyroid tissue (ETT) is a rare congenital anomaly caused by the abnormal embryonic migration of thyroid tissue, leading to its presence outside its usual pretracheal location. This condition can lead to diagnostic challenges, especially when located within the airway, as it mimics other respiratory disorders such as asthma.
Case Presentation: We report the case of a 69-year-old man with endotracheal ETT presenting with severe dyspnea, and the lesion was initially suspected to be malignant.
J Biomater Appl
January 2025
BEST/CB3S, UMR CNRS 7244, Institut Galilée, Université Sorbonne Paris Nord, Villetaneuse, France.
Myelomeningocele (MMC) is a congenital defect of the spine characterized by meningeal and spinal cord protrusion through open vertebral archs, and its exposure to the amniotic fluid. Given that the progression of neuronal loss begins early in fetal life, an early coverage of the defect is required to improve the neurological outcomes. Several studies have proposed patches as an alternative to full surgical repair, to achieve an early protection of the spine and possibly reduce the rate of complications of current prenatal surgical procedures.
View Article and Find Full Text PDFiScience
February 2025
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the association of noncoding variants (ncDNVs) with sulcal patterns in people with CHD remains poorly understood. Leveraging deep learning models, we examined the predicted impact of ncDNVs on gene regulatory signals.
View Article and Find Full Text PDFCureus
December 2024
Colorectal Surgery, Blackpool Teaching Hospitals, Blackpool, GBR.
Meckel's diverticulum (MD) is a common congenital anomaly of the gastrointestinal tract, present in approximately 2% of the population. While typically asymptomatic, MD can lead to complications such as obstruction and intussusception. Here, we present a case report of a man presenting with abdominal pain with an incidental finding of MD complicated by intussusception and our management approach.
View Article and Find Full Text PDFFront Pediatr
January 2025
Department of General Surgery, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
Gallbladder torsion (GT), characterized by the axial rotation of the cystic duct and cystic artery, is a critical condition that predominantly affects elderly women and is infrequently observed in children. Chronic cholecystitis associated with incomplete GT is a particularly rare phenomenon. This article presents a pediatric case of chronic cholecystitis associated with incomplete GT.
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