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Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking.
BMC Med Genomics
January 2025
Department of Critical Care Medicine, Affiliated Hospital of Medical School, Nanjing Drum Tower Hospital, Nanjing University, No. 321 Zhongshan Road, Nanjing, 210008, Jiangsu Province, China.
Background: Glycerol-3-phosphate dehydrogenase 1 (GPD1) gene defect can cause hypertriglyceridemia (HTG), which usually occurs in infants. The gene defect has rarely been reported in adult HTG patients. In the present study, we described the clinical and functional analyses of a novel GPD1 missense variant in a Chinese adult patient with recurrent hypertriglyceridemia‑related acute pancreatitis (HTG-AP), consuming a high-fat diet and smoking heavily.
View Article and Find Full Text PDFDevelopment and validation of machine-learning models for predicting the risk of hypertriglyceridemia in critically ill patients receiving propofol sedation using retrospective data: a protocol.
BMJ Open
January 2025
Division of Pulmonary and Critical Care, Mayo Clinic, Rochester, Minnesota, USA
Introduction: Propofol is a widely used sedative-hypnotic agent for critically ill patients requiring invasive mechanical ventilation (IMV). Despite its clinical benefits, propofol is associated with increased risks of hypertriglyceridemia. Early identification of patients at risk for propofol-associated hypertriglyceridemia is crucial for optimising sedation strategies and preventing adverse outcomes.
View Article and Find Full Text PDFApolipoprotein CIII correlates with lipoproteins in the fed state and is not regulated by leptin administration in states of hypoleptinemia induced by acute or chronic energy deficiency: Results from two randomised controlled trials.
Diabetes Obes Metab
January 2025
Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Background: Medications targeting the leptin and Apolipoprotein CIII (APOC3) pathways are currently under development for the treatment of hypertriglyceridaemia. Given that both pathways are implicated in triglyceride regulation, it is unknown whether they function independently or interact under physiological conditions and under acute or long-term energy deficiency.
Methods: APOC3 levels and their association with circulating lipids and lipoproteins were evaluated in the context of two randomised controlled studies.
A Complicated Triad of Diabetic Ketoacidosis, Hypertriglyceridemia, and Acute Pancreatitis in a Patient With Alcohol Abuse and Undiagnosed Diabetes Mellitus.
Cureus
December 2024
Medical School, Edward Via College of Osteopathic Medicine, Auburn, USA.
Diabetic ketoacidosis (DKA), hypertriglyceridemia, and acute pancreatitis are a rare and potentially fatal triad. This article presents a fatal case of acute pancreatitis, DKA, and hypertriglyceridemia in a patient with undiagnosed diabetes mellitus struggling with alcoholism. The patient was unresponsive to standard pancreatitis and DKA treatment protocol and progressed to develop multi-organ failure.
View Article and Find Full Text PDFA phase I study of temsirolimus in combination with metformin in patients with advanced or recurrent endometrial cancer.
Gynecol Oncol
January 2025
Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, United States.
Introduction: Molecular alterations in the PI3K/AKT and Ras/Raf/MEK/ERK pathways are frequently observed in patients with endometrial cancers. However, mTOR inhibitors, such as temsirolimus, have modest clinical benefits. In addition to inducing metabolic changes in cells, metformin activates AMPK, which in turn inhibits the mTOR pathway.
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