Results 11 to 20 of about 2,493,792 (352)

High-Risk Sarcoidosis: A Focus on Pulmonary, Cardiac, Hepatic and Renal Advanced Diseases, as Well as on Calcium Metabolism Abnormalities. [PDF]

Diagnostics (Basel)
Israël-Biet D, Bernardinello N, Pastré J, Tana C, Spagnolo P.   +4 more
europepmc   +3 more sources

Values and other decisional factors regarding treatment of hypercalcaemia of malignancy: a systematic review protocol

BMJ Open, 2021
Introduction Hypercalcaemia of malignancy (HCM) is the second most common cause of hypercalcaemia and is associated with significant morbidity and mortality.
M. Hassan Murad, Layal Hneiny, Thomas Piggott, Ghada El-Hajj Fuleihan, Aya Bassatne, Maya Rahme   +5 more
doaj   +1 more source

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

Bone Reports, 2022
Aim: To describe the presenting features, bone characteristics and molecular genetics in a large monocentric cohort of children and young adults with idiopathic primary osteoporosis.
Coline Rouleau, Margaux Malorie, Corinne Collet, Valérie Porquet-Bordes, Isabelle Gennero, Sanaa Eddiry, Michel Laroche, Jean Pierre Salles, Guillaume Couture, Thomas Edouard   +9 more
doaj   +1 more source

Physical Activity-Dependent Regulation of Parathyroid Hormone and Calcium-Phosphorous Metabolism

International Journal of Molecular Sciences, 2020
Exercise perturbs homeostasis, alters the levels of circulating mediators and hormones, and increases the demand by skeletal muscles and other vital organs for energy substrates. Exercise also affects bone and mineral metabolism, particularly calcium and
G. Lombardi, E. Ziemann, G. Banfi, S. Corbetta   +3 more
semanticscholar   +1 more source

Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone

Orphanet Journal of Rare Diseases, 2022
Background X-linked hypophosphatemia (XLH) is characterized by increased serum concentrations of fibroblast growth factor 23 (FGF23), hypophosphatemia and insufficient endogenous synthesis of calcitriol.
Diana-Alexandra Ertl, Justin Le Lorier, Andreas Gleiss, Séverine Trabado, Candace Bensignor, Christelle Audrain, Volha Zhukouskaya, Régis Coutant, Jugurtha Berkenou, Anya Rothenbuhler, Gabriele Haeusler, Agnès Linglart   +11 more
doaj   +1 more source

Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

Frontiers in Endocrinology, 2021
Mutations in CYP24A1 (vitamin D 24-hydroxylase) and SLC34A1 (renal phosphate transporter NPT2a) cause autosomal recessive Infantile Hypercalcemia type 1 and 2, illustrating links between vitamin D and phosphate metabolism.
Arnaud Molin, Arnaud Molin, Arnaud Molin, Arnaud Molin, Sandrine Lemoine, Sandrine Lemoine, Martin Kaufmann, Pierre Breton, Marie Nowoczyn, Marie Nowoczyn, Céline Ballandonne, Nadia Coudray, Hervé Mittre, Hervé Mittre, Hervé Mittre, Nicolas Richard, Nicolas Richard, Amélie Ryckwaert, Alinoe Lavillaureix, Glenville Jones, Justine Bacchetta, Justine Bacchetta, Justine Bacchetta, Justine Bacchetta, Marie-Laure Kottler, Marie-Laure Kottler, Marie-Laure Kottler   +26 more
doaj   +1 more source

Disorders of Calcium and Phosphorus Metabolism and the Proteomics/Metabolomics-Based Research

Frontiers in Cell and Developmental Biology, 2020
Since calcium and phosphorus play vital roles in a multitude of physiologic systems, disorders of calcium and phosphorus metabolism always lead to severe consequences such as skeletal-related and cardiovascular morbidity, or even life-threatening ...
Meiheng Sun, Xiaoqiu Wu, Yuanyuan Yu, Luyao Wang, Duoli Xie, Zhenlin Zhang, Lin Chen, Aiping Lu, Ge Zhang, Fangfei Li   +9 more
semanticscholar   +1 more source

Association between vitamin D and cardiovascular health: Myth or Fact? A narrative review of the evidence

Women's Health, 2023
Vitamin D deficiency is prevalent worldwide. Since the discovery of the expression of vitamin D receptor in ventricular cardiomyocytes, fibroblasts, and blood vessels, there has been a growing body of literature assessing the link between vitamin D ...
Hala Ahmadieh, Asma Arabi
doaj   +1 more source

Growth hormone treatment improves final height in children with X-linked hypophosphatemia

Orphanet Journal of Rare Diseases, 2022
Background/aim Despite optimal conventional treatment (oral phosphate supplements and active vitamin D analogs), about 40–50% of children with well-controlled X-linked hypophosphatemia (XLH) show linear growth failure, making them less likely to achieve ...
Julia André, Volha V. Zhukouskaya, Anne-Sophie Lambert, Jean-Pierre Salles, Brigitte Mignot, Claire Bardet, Catherine Chaussain, Anya Rothenbuhler, Agnès Linglart   +8 more
doaj   +1 more source

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature

Bone Reports, 2021
Background: Loss-of-function variants in the calcium-sensing receptor (CASR) gene are known to be involved in a clinical spectrum ranging from asymptomatic familial hypocalciuric hypercalcemia (FHH) to neonatal severe hyperparathyroidism (NSHPT ...
Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard   +8 more
doaj   +1 more source