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Identifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics
January 2025
Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Background: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.
Methods: A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies.
An overview of progress in establishing a diagnostic tool for non-celiac gluten sensitivity.
Expert Rev Mol Diagn
January 2025
Department of Pediatrics, Polytechnic University of Marche, Ancona, Italy.
Introduction: Non-Celiac Gluten Sensitivity (NCGS) is a common disorder characterized by symptoms resembling those of irritable bowel syndrome. In recent years there has been progress in the understanding of the pathogenic pathways and data suggest that NCGS has a distinct immunological profile that differs from celiac disease (CeD). This has fostered the search for a specific biomarker of NCGS.
View Article and Find Full Text PDFInteraction of B0AT1 deficiency and diet on metabolic function and diabetes incidence in male NOD mice.
Endocrinology
January 2025
Australian National University School of Medicine and Psychology, Australian National University, Acton, ACT, 0200, Australia.
Context: The obesity epidemic parallels an increasing type 1 diabetes incidence, such that westernized diets, containing high fat, sugar and/or protein, through inducing nutrient-induced islet beta-cell stress, have been proposed as contributing factors. The broad-spectrum neutral amino acid transporter (B0AT1), encoded by Slc6a19, is the major neutral amino acids transporter in intestine and kidney. B0AT1 deficiency in C567Bl/6J mice, causes aminoaciduria, lowers insulinemia and improves glucose tolerance.
View Article and Find Full Text PDFDuodenal-jejunal bypass ameliorates MASLD in rats by regulating gut microbiota and bile acid metabolism through FXR pathways.
Hepatol Commun
February 2025
Department of Gastroenterology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Background: Although bariatric and metabolic surgical methods, including duodenal-jejunal bypass (DJB), were shown to improve metabolic dysfunction-associated steatotic liver disease (MASLD) in clinical trials and experimental rodent models, their underlying mechanisms remain unclear. The present study therefore evaluated the therapeutic effects and mechanisms of action of DJB in rats with MASLD.
Methods: Rats with MASLD were randomly assigned to undergo DJB or sham surgery.
Septic Pelvic Thrombophlebitis Status Post-Laparoscopic Hysterectomy: A Case Report Investigating a Rare Yet Perilous Adverse Outcome.
Cureus
December 2024
Obstetrics and Gynecology, Saint Vincent Hospital, Erie, USA.
Septic pelvic thrombophlebitis is defined as an endovascular thrombus of infectious etiology. It is frequently diagnosed only after excluding other more common pathologies. A high level of suspicion should be maintained in the context of a fever refractory to broad-spectrum antibiotics that improves after initiation of systemic anticoagulation.
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