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Analysis of Urinary Metanephrines Using Liquid Chromatography Tandem Mass Spectrometry.
Methods Mol Biol
January 2025
Analytic Biochemistry, Calculi and Manual Chemistry, Mass Spectrometry, ARUP Laboratories, Inc., Salt Lake City, UT, USA.
Metanephrines (metanephrine [MN] and normetanephrine [NMN]) are O-methylated metabolites derived from the catecholamines, epinephrine, and norepinephrine, respectively. High concentrations of metanephrines have been observed in individuals with pheochromocytoma, a neuroendocrine tumor. Measurement of metanephrines in urine is used to screen for the tumor.
View Article and Find Full Text PDFHorizontal and longitudinal targeted metabolomics in healthy pregnancy and gestational diabetes mellitus.
Acta Diabetol
January 2025
Department of Obstetrics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Objective: The objective is to investigate the differences in urinary organic acid (OA) profiles and metabolism between healthy control (HC) pregnant women and those with gestational diabetes mellitus (GDM) during the second trimester and third trimester of pregnancy.
Methods: A total of 66 HC pregnant women and 32 pregnant women with GDM were assessed for 107 hydrophilic metabolites in urine samples collected during the second and third trimester of pregnancy using tandem mass spectrometry. The urine OA profiles for each group were obtained, and metabolomic analysis and discussion were conducted.
Association Between Endocrine-Disrupting Chemicals Exposure and Attention-Deficit/Hyperactivity Disorder Symptoms in Children With Attention-Deficit/Hyperactivity Disorder.
Soa Chongsonyon Chongsin Uihak
January 2025
Department of Psychiatry, Seoul National University College of Medicine, Seoul, Korea.
Objectives: This study investigated the relationship between exposure to endocrine-disrupting chemicals (EDCs), specifically phthalates, bisphenol A, bisphenol F, and bisphenol S, and the severity of attention-deficit/hyperactivity disorder (ADHD) symptoms using neuropsychological tests in children diagnosed with ADHD.
Methods: This study included 67 medication-naïve children with ADHD aged 6-16 years. The urinary concentrations of EDCs were measured, and ADHD symptom severity was evaluated using neuropsychological tests and clinical symptom scale measurements.
Mineralocorticoid axis activity and cardiac remodeling in patients with ACTH dependent Cushing's syndrome.
Endocr Connect
January 2025
P Kamenický, Centre de Référence des Maladies Rares de l'Hypophyse, Le Kremlin-Bicêtre, 94275, France.
Background: Arterial hypertension and left ventricular hypertrophy and remodeling are independent cardiovascular risk factors in patients with Cushing's syndrome. Changes in the renin-angiotensin system and in the mineralocorticoid axis activity could be involved as potential mechanisms in their pathogenesis, in addition to cortisol excess.
Methods: In this ancillary study of our previous study prospectively investigating patients with ACTH-dependent Cushing's syndrome by cardiac magnetic resonance imaging (NCT02202902), 11 patients without any interfering medication were cross-sectionally compared to 20 control subjects matched for age, sex and body mass index.
Mitochondrial HMG-CoA synthase deficiency.
Mol Genet Metab
January 2025
Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium. Electronic address:
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.
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