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Pattern and Frequency of Congenital Heart Defects Among Infants of Diabetic Mothers.
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 PDFPrenatal syphilis and adverse pregnancy outcomes in women with HIV receiving ART in Brazil: a population-based study.
Lancet Reg Health Am
November 2024
Ministry of Health - Brazil, Department of Surveillance, Prevention and Control of STIs, AIDS, and Viral Hepatitis, SRTVN Quadra 701, Lote D, Edifício PO700 - 5º Andar, CEP: 70719-040, Brasília/DF, Brazil.
Background: We aimed to examine factors associated with prenatal syphilis, including prenatal care, and pregnancy outcomes of pregnant women with HIV in Brazil.
Methods: Retrospective data were gathered from a national cohort of Brazilian women with HIV on antiretroviral therapy who became pregnant between January 2015 and May 2018. Prenatal syphilis was defined by clinical diagnoses with treatment or any positive syphilis laboratory result between 30 days before conception and pregnancy conclusion.
An Unusual and Severe Thyrotoxicosis in a Twin Pregnancy: Fortune Favors the Brave.
Case Rep Endocrinol
January 2025
Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Graves' disease (GD) and gestational transient thyrotoxicosis (GTT) are the most common causes of thyrotoxicosis during pregnancy, with prevalence ranging from 0.1% to 1% and from 1% to 3%, respectively. Hyperthyroidism during pregnancy can have severe consequences if not promptly recognized and treated.
View Article and Find Full Text PDFMissense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.
HGG Adv
January 2025
GeneDx LLC, Gaithersburg, Maryland, 20877.
The ARHGEF40 gene, also known as SOLO, encodes a RhoA-targeting guanine nucleotide exchange factor (GEF) and is currently considered a candidate gene with a potential relationship to disease. Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities.
View Article and Find Full Text PDFCurrent practices in MRI screening in early onset scoliosis.
Spine Deform
January 2025
Case Western Reserve University School of Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Purpose: Early onset scoliosis (EOS) has traditionally been an indication for MRI because of its association with neural axis abnormalities (NAAs). Because these abnormalities are often clinically silent and concerns regarding sedation in young children are growing, routine MRI for EOS is debated. This study investigates the current practices of EOS MRI screening among surgeons in the Pediatric Spine Study Group (PSSG).
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