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Primary hyperparathyroidism (pHPT) is marked by mineral imbalances, often leading to nephrolithiasis and osteoporosis. While imaging remains the cornerstone for stone detection, there is growing interest in biochemical markers that could enhance diagnostic accuracy. This study investigates the calcium-to-magnesium (Ca/Mg) ratio as a novel biomarker for nephrolithiasis, comparing its utility to traditional 24-h urinary calcium excretion and exploring its broader clinical implications.

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Background: Enamel renal gingival syndrome (ERS) is a genetic disorder caused by mutations in the FAM20A gene located on long arm of chromosome 17. It is characterized by presence of intra-oral features like hypoplastic type of amelogenesis imperfecta, fibromatosis of gingiva and nephrocalcinosis in addition to delayed eruption. The oral phenotype is evident in childhood, whereas the renal involvement is clinically silent at this age and requires further investigation for detection at later age.

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Neurofilament light chain - Can it be measured in urine?

Clin Chim Acta

January 2025

Department of Clinical Biochemistry, Aarhus University Hospital, Palle Juul Jensens Boulevard 99 8200 Aarhus N, Denmark; Department of Clinical Medicine, Aarhus University 8000 Aarhus C, Denmark.

Objective: This exploratory study investigates if neurofilament light chain (NfL) is excreted in the urine and whether this depends on plasma NfL (pNfL) levels and kidney function in terms of eGFR and U-albumin-creatinine ratio (uACR).

Methods: Using a computer algorithm, we identified excess urine and plasma from routine testing of uACR and eGFR in patients 45-50 years old. Up to 17 paired urine-plasma samples in each of six categories of kidney function defined by uACR and eGFR were analysed for NfL, and the urinary NfL-creatinine ratio (uNCR) was calculated to correct for urine dilution.

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Pseudogenization of the Slc23a4 gene is necessary for the survival of Xdh-deficient mice.

Sci Rep

January 2025

Laboratory of Human Physiology and Pathology, Faculty of Pharmaceutical Sciences, Teikyo University, Tokyo, Japan.

In most patients with type 1 xanthinuria caused by mutations in the xanthine dehydrogenase gene (XDH), no clinical complications, except for urinary stones, are observed. In contrast, all Xdh(- / -) mice die due to renal failure before reaching adulthood at 8 weeks of age. Hypoxanthine or xanthine levels become excessive and thus toxic in Xdh(- / -) mice because enhancing the activity of hypoxanthine phosphoribosyl transferase (HPRT), which is an enzyme that uses hypoxanthine as a substrate, slightly increases the life span of these mice.

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Resorcinol is a widespread substance used in a large variety of manufacturing industries, including cosmetics, with endocrine-disrupting activity on the thyroid function. The aim of the present study was to develop and validate a sensitive, selective and robust method to quantify resorcinol in urine and thereby assess hairdressers' occupational exposure. As resorcinol is mainly excreted in urine as glucuronide or sulfate forms, the first step consisted in hydrolyzing urine samples with a β-glucuronidase-arylsulfatase enzyme for 16 h.

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