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http://dx.doi.org/10.1007/pl00008439 | DOI Listing |
Cureus
December 2024
Paediatrics, Maternity and Children Hospital, AlAhsa, SAU.
Background Maternal diabetes mellitus (DM) is a known risk factor for congenital heart diseases (CHDs), which are of significant concern to infants born to diabetic mothers. Compared to newborns born to non-diabetic mothers, infants born to diabetic mothers had a higher overall risk of developing congenital malformations. This association has a complex pathophysiology that includes genetic predispositions, metabolic abnormalities, and environmental factors during key stages of fetal development.
View Article and Find Full Text PDFFront Public Health
January 2025
Center of Excellence for Sickle Cell Disease Research and Training (CESRTA), University of Abuja, Abuja, Nigeria.
Introduction: Newborn Screening (NBS) is a public health program designed to identify and provide early interventions for infants with genetic disorders such as Sickle Cell Disease (SCD). Lack of awareness and unwillingness to participate in the NBS by caregivers and some healthcare workers are major contributing factors impeding NBS for SCD.
Objective: To evaluate the level of awareness and acceptance of NBS for SCD and the determinant factors influencing caregivers in Gwagwalada Area Council of the Federal Capital Territory, Abuja, Nigeria.
BMC Infect Dis
January 2025
Department of Obstetrics and Gynecology, Taixing People's Hospital, No.1, Changzheng Road, Taixing, Jiangsu, 225400, China.
Background: Group B Streptococcus (GBS) colonization is one of the major causes of severe neonatal infections. The study was intended to identify GBS colonization in pregnant women, explore its potential risk factors, and analyze the impact of GBS on outcomes for both mothers and newborns.
Material And Methods: A retrospective research was carried out on pregnant women who had undergone GBS screening and delivered from June 2020 to December 2022.
Biomedica
December 2024
Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
Introduction: Congenital lymphopenias cause increased susceptibility to infections in children apparently healthy at birth. Earlier detection of these conditions would facilitate prompt treatment, prevent potentially serious disease complications and early deaths, and save healthcare resources.
Objective: To perform a pilot study for neonatal screening of congenital lymphopenias by the quantification of TREC and KREC –T- and B-cell receptor excision circles– in peripheral blood samples from newborns in Medellín, Colombia.
J Clin Endocrinol Metab
January 2025
Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
The most common form of congenital adrenal hyperplasia (CAH) is secondary to 21-hydroxylase deficiency (21OHD). This review will summarize the clinical manifestations, recommended treatments, monitoring, clinical challenges and management strategy, and treatment challenges in special situations for infants and children with classic CAH due to 21OHD. Specifically, we review newborn screening and the initial diagnosis, glucocorticoid and mineralocorticoid treatment, and recommended monitoring, including anthropometric and laboratory measures.
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