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http://dx.doi.org/10.1111/j.1440-1754.2010.01907.x | DOI Listing |
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 PDFJ Matern Fetal Neonatal Med
December 2025
Department of Obstetrics, Perinatology and Neonatology, Center of Postgraduate Medical Education, Warsaw, Poland.
Introduction: Small-for-gestational age (SGA) newborns are at increased risk of adverse neonatal outcomes and the risk is related to the etiology of growth restriction: highest in placental insufficiency, lowest in constitutional SGA. The aim of this study was to investigate if placental growth factor (PlGF), soluble fms-like tyrosine kinase-1(sFlt-1) or sFlt-1/PlGF ratio are efficient in prediction of adverse neonatal outcomes in SGA newborns delivered ≥34 weeks of gestation.
Methods: A prospective observational multicenter cohort study was performed.
Pediatr Nephrol
January 2025
Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong, China.
This case report presents a newborn with pyruvate dehydrogenase complex deficiency who developed significant lactic acidosis and acute kidney injury after birth. Peritoneal dialysis with glucose-based peritoneal dialysis fluid was initially started, but the patient had worsening hyperglycemia and lactic acidosis, likely related to excess glucose reabsorption with shunting to lactate due to the underlying metabolic disorder. As amino acid-based dialysis solution was not available in our formulary, a dialysis fluid was manually created with Vaminolact, which was commonly used in neonatal parenteral nutrition.
View Article and Find Full Text PDFNiger Med J
January 2025
Department of Internal Medicine, Federal Medical Centre, Yenagoa, Bayelsa State, Nigeria.
Background: The prevalence of gestational diabetes mellitus (GDM) is dependent on the diagnostic criteria used and there is no consensus on screening methods and diagnostic criteria. The International Association for Diabetes in Pregnancy Study Group (IADPSG) recently put forward new diagnostic criteria and encourages its adoption worldwide. The aim of this study was to determine the incidence of GDM and to compare the foeto-maternal outcomes of women diagnosed with GDM in the Federal Medical Centre, Yenagoa using the WHO 1999 and IADPSG criteria.
View Article and Find Full Text PDFFront 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.
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