Presse Med
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Hereditary hypophosphatemic rickets groups together X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets (ADHR) and hereditary hypophosphatemic rickets with hypercalciuria (HHRH, autosomal recessive). Clinical and biological characteristics and treatment depend on specific etiology. ⋯ The gene involved in HHRH remains unknown: candidates may encode proteins that modulate phosphate transporter expression or activity. Others forms of rickets must be ruled out: acquired hypophosphatemia due to oncogenic osteomalacia, X-linked recessive hypophosphatemic rickets or Dent's disease, and hereditary 1, 25-dihydroxyvitamin D-resistant rickets with a defect either in the 1-alpha-hydroxylase gene (pseudo-vitamin D deficiency rickets, PDDR) or in the vitamin D receptor (hereditary vitamin D-resistant rickets, HVDRR).
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Spontaneous splenic hematomas are uncommon and frequently associated with infectious, hematologic, or neoplastic diseases. Presentation is typically acute but progressive forms have been described. ⋯ Although the likely cause of this splenic hematoma appears to be a minor injury 9 months before the onset of pain, we cannot rule out the possibility that selective serotonin reuptake inhibitor treatment was a predisposing factor.
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To describe the attitudes of French general practitioners (GPs) about insomnia and its effect on patients' physical health and work. ⋯ Insomnia and its management are topics of strong interest for GPs.
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Until recently, the action of two hormones - parathyroid hormone (PTH) and calcitriol - on three target tissues - bone, kidney, and gut - has been thought to regulate the closely linked homeostasis of calcium and phosphates. In this system, an increase in the plasma concentration of one ion often leads to a reciprocal change in the concentration of the other and PTH stimulates 1 alpha-hydroxylase activity and calcitriol synthesis in renal proximal tubular cells. A second phosphate regulation system was recently identified. ⋯ The key phosphatonin appears to be a fibroblast growth factor, known as FGF23. It is now established that FGF23 regulates not only phosphate homeostasis, but also vitamin D metabolism. In contrast to PTH, however, FGF23 inhibits rather than stimulates 1 alpha-hydroxylase activity and calcitriol synthesis.