In this study, we describe a fetus with double-outlet atrium associated with complex arrangement of the ventricles and the great vessels. Various presentations of this malformation not described antenatally are discussed.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1017/S104795111600250X | DOI Listing |
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Front Pediatr
January 2025
Division of Neonatology, Department of Pediatrics, Faculty of Medicine Vajira Hospital, Navamindradhiraj University, Bangkok, Thailand.
Background: Multisystem inflammatory syndrome in neonates (MIS-N) is a rare condition thought to be associated with prenatal exposure to maternal severe acute respiratory syndrome coronavirus 2 infection. This immune-mediated hyperinflammation has been described in neonates with multiorgan dysfunction, including cardiopulmonary, encephalopathy, coagulopathy, and vascular complications. However, renovascular complications in MIS-N are rare.
View Article and Find Full Text PDFInt Med Case Rep J
January 2025
Department of Obstetrics and Gynecology, Universitas Padjadjaran, Bandung, Indonesia.
Vasa previa is a condition where unprotected fetal vessels, neither by placenta nor umbilical cord, lie within the membranes over the internal cervical ostium and beneath the presenting part of the fetus. Due to this condition, the membranous vessels pose a higher risk of being compressed or ruptures and could lead to fetal demise, exsanguination, or even fetal death. In this case report, we reported a case of a 36-year-old woman, G3P2A0, at term gestation and oblique lie.
View Article and Find Full Text PDFJ Int AIDS Soc
February 2025
Centre for Integrated Data and Epidemiological Research, School of Public Health, University of Cape Town, Cape Town, South Africa.
Introduction: Sexually transmitted infections (STIs) in pregnancy are associated with an increased risk of vertical HIV transmission and adverse pregnancy and birth outcomes. In South Africa, syndromic management is the standard of care for STI management. We assessed the potential impact of point-of-care (POC) screening for curable STIs (Chlamydia trachomatis [CT], Trichomonas vaginalis [TV] and Neisseria gonorrhoeae [NG]) during pregnancy on vertical HIV transmission and adverse pregnancy and birth outcomes.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!