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Effects of Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers.
Int J Mol Sci
November 2024
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Gaucher disease (GD) is a lysosomal lipid storage disorder caused by β-glucocerebrosidase (encoded by gene) activity deficiency, resulting in the accumulation of glucosylceramide (Gb1) and its deacylated metabolite glucosylsphingosine (lyso-Gb1). Lyso-Gb1 has been studied previously and proved to be a sensitive biomarker, distinguishing patients with GD from carriers and healthy subjects. It was shown that its level corresponds with β-glucocerebrosidase activity, thus it remains unknown as to why carriers have slightly higher lyso-Gb1 level than healthy population.
View Article and Find Full Text PDFGenomics, the diversification of mammals, and the evolution of placentation.
Dev Biol
December 2024
Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark. Electronic address:
When and why did variations in placental structure and function evolve? Such questions cannot be addressed without a reliable version of mammalian phylogeny. Twenty-five years ago, the mammalian tree was reshaped by molecular phylogenetics. Soon it was shown, in contrast to prevailing theories, that the common ancestor of placental mammals had invasive placentation.
View Article and Find Full Text PDFUterine inversion in retained placenta, that's why a good management of third stage of labor matters: A case report.
SAGE Open Med Case Rep
July 2024
Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Padjadjaran - Dr. Slamet General Hospital, Garut, Indonesia.
Uterine inversion is characterized by the folding of the fundus into the uterine cavity. While infrequent, it ranks among the most serious complications of childbirth, posing a significant risk of mortality primarily due to hemorrhage and shock. Retained placenta after vaginal delivery is diagnosed when placenta does not spontaneously deliver within 18-60 min.
View Article and Find Full Text PDFLooking back to look forward: Has the time arrived for active management of obstetricians in placenta accreta spectrum?
Int J Gynaecol Obstet
January 2025
University College Dublin Gynaecological Oncology Group (UCD-GOG), Mater Misericordiae University Hospital and St Vincent's University Hospital, Dublin, Ireland.
Placenta accreta spectrum (PAS) is a relatively new obstetric condition which, until recently, was poorly understood. The true incidence is unknown because of the poor quality and heterogeneous diagnostic criteria. Classification systems have attempted to provide clarity on how to grade and diagnose PAS, but these are no longer reflective of our current understanding of PAS.
View Article and Find Full Text PDFWhy Would a Cardiologist Be Interested in the Placenta?
JACC Adv
June 2023
Division of Cardiology, Department of Pediatrics, University of California-San Francisco, San Francisco, California, USA.
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