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Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation.
Cureus
December 2024
Obstetrics and Gynecology, Latifa Hospital, Dubai, ARE.
Glanzmann thrombasthenia (GT) is an autosomal recessive platelet functional bleeding disorder caused by mutations in the ITGA2B or ITGB3 genes, often presenting as mucocutaneous bleeding. GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents. The mother, a 27-year-old woman with a family history of GT, presented at 36 weeks gestation for an elective cesarean due to a breech presentation.
View Article and Find Full Text PDFMineral composition and ratios in aortic valves, serum, and epicardial fat among patients with aortic stenosis undergoing aortic valve replacement.
Sci Rep
January 2025
Department of Environmental Medicine, Poznan University of Medical Sciences, Poznan, Poland.
Aortic stenosis (AS) is a leading cause of surgical intervention in adults with acquired heart disease, driven by an aging population and advancements in diagnostic and treatment approaches. This study aimed to investigate levels of macroelements (Ca, K, Na, Mg, and P) in aortic valve tissues, serum, and epicardial fat in patients undergoing aortic valve replacement due to degenerative disease. Elemental composition was determined using inductively coupled plasma mass spectrometry.
View Article and Find Full Text PDFComparative analysis of EGFR mutations in circulating tumor DNA and primary tumor tissues from lung cancer patients using BEAMing PCR.
Sci Rep
January 2025
Translational Research Laboratory, Advanced Centre for Treatment, Research & Education in Cancer, Tata Memorial Centre, Navi Mumbai, India.
In this study, we measured human epidermal growth factor receptor (EGFR) mutations in both tissue and circulating tumor DNA (ctDNA) by using beads, emulsions, amplifications and magnetic polymerase chain reaction (BEAMing PCR). Noninvasive mutation detection by assessing circulating tumor DNA (ctDNA) offers many advantages over tumor biopsy. One hundred non-small cell lung cancer (NSCLC) patients were enrolled, and both preoperative plasma samples and formalin-fixed and paraffin-embedded (FFPE) samples were collected for the study.
View Article and Find Full Text PDFActivation of the kynurenine pathway identified in individuals with covert hepatic encephalopathy.
Hepatol Commun
December 2024
Macquarie Medicine School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia.
Background: HE is a neuropsychiatric complication of liver disease characterized by systemic elevation in ammonia and proinflammatory cytokines. These neurotoxins cross the blood-brain barrier and cause neuroinflammation, which can activate the kynurenine pathway (KP). This results in dysregulated production of neuroactive KP metabolites, such as quinolinic acid, which is known to cause astrocyte and neuronal death.
View Article and Find Full Text PDFQRFP43 modulates the activity of the hypothalamic-pituitary-thyroid axis in female sheep.
Sci Rep
January 2025
Department of Animal Physiology, The Kielanowski Institute of Animal Physiology and Nutrition, Polish Academy of Sciences, Instytucka 3, Jabłonna, 05-110, Poland.
Since the early discovery of QRFP43, intensive research has been primarily focused on its role in the modulation of food intake. As is widely recognised, the regulation of the body's energy status is a highly complex process involving numerous systems, hormones and neurotransmitters. Among the most important regulators of energy status, alongside the satiety and hunger centre located in the hypothalamus, is the HPT axis, which directly and indirectly affects the regulation of metabolism in all cells of the body.
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