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Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFBetween 'fetal viability' and the 'viability of families': Decision-making for extremely premature infants in Spain.
Soc Sci Med
January 2025
Department of Social and Cultural Anthropology, Autonomous University of Barcelona, Barcelona, Spain.
Neonatal expertise and technologies have been perfected over the last decades, improving preterm infants' survival rates and allowing a gradual reduction in the gestational age limits of fetal viability. Using the concept of viability as a starting point, we analyze decision-making processes regarding extremely preterm newborns at the limits of viability. Drawing on extensive ethnographic fieldwork in a public hospital in Barcelona between March and November 2023, we examine the knowledge forms, rationalities and values that healthcare workers employ when guiding families in decisions about infants' viability.
View Article and Find Full Text PDFHydrocephalus, healing, and disrupted daily living: exploring maternal experiences at Queen Elizabeth Central Hospital in Blantyre, Malawi.
Malawi Med J
January 2025
Department of Health Systems and Policy, School of Global and Public Health, Kamuzu University of Health Sciences, Blantyre, Malawi.
Background: Each year, nearly 400,000 new cases of paediatric hydrocephalus are estimated to occur worldwide, and almost half of these cases are expected to affect children in Africa. At Queen Elizabeth Central Hospital (QECH), an urban tertiary hospital in Blantyre, Malawi, located in south-east Africa, around 200 children received neurosurgical treatment for hydrocephalus in 2023. These children require lifelong follow-up and care, which places significant demands on their caregivers.
View Article and Find Full Text PDFCase Report: Neonatal onset intractable diarrhea and hypoproteinemia due to intestinal malrotation and chronic midgut volvulus.
Front Pediatr
January 2025
Children's Hospital, Fudan University, Shanghai, China.
Congenital diarrhea and enteropathies (CODEs) are a rare heterogeneous group of inherited disorders that typically present with severe chronic diarrhea during the first weeks of life. As a broad range of illnesses can present similarly in infants, establishing a definitive cause for CODEs is challenging. In this report, two infants were suspected to have CODE, with neonatal-onset chronic diarrhea and protein-losing enteropathy finally found to be due to intestinal malrotation and chronic midgut volvulus.
View Article and Find Full Text PDFPerceived Stress During Late Pregnancy and Infant Body Composition at 1 Month.
J Endocr Soc
January 2025
Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90032, USA.
Context: Worldwide, obesity remains one of the most challenging crises with children being one of the most susceptible populations. The effect of maternal stress during pregnancy on newborn body composition, measured by fat mass and lean mass has, not been extensively studied.
Objectives: We evaluated the association between perceived stress during late pregnancy and infant adiposity at 1 month and assessed effect modification by infant sex and preterm birth.
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