يعرض 1 - 10 نتائج من 38 نتيجة بحث عن '"Cavalier, Etienne"', وقت الاستعلام: 0.86s تنقيح النتائج
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    المصدر: Annales d'Endocrinologie, 82, 311 (2021-10-01); Societe Francaise d'Endocrinologie, Le Havre, France [FR], 13-16 octobre 2021

    الوصف: peer reviewed ; Cas clinique : un patient de 61 ans est hospitalisé avec une perte de poids (10kg) et une insuffisance rénale aigue. Il prenait de la vitamine D 800 UI/j depuis quelques mois. A l’admission : Calcium : 4.2 mmol/L (2.1-2.5), PTH : 5ng/ml, PTH-Rp <20 pg/ml, 25-hydroxy-vitD3(cholécalciférol) : 76 ng/ml (<60), PO4 : 1.1 mmol/L (0.8-1.45), ACE <25, normo calciurie, pas de lithiases rénales. On note une ostéoporose lombaire et une ostéopénie fémorale sévère. Le PET scan corps entier exclu une lésion néoplasique. Une fibrose pulmonaire interstitielle idiopathique est décelée. Des prélèvements ganglionnaires excluent une sarcoïdose. L’hydratation, la calcitonine, les corticoïdes et l’acide zoledronique ne normalisent pas la calcémie. La 1,25-dihydroxy-vitD3(calcitriol) : 161 ng/ml (29-82) et le FGF23 : 284 pg/ml (23-95) font suspecter un déficit fonctionnel de la CYP24A1, enzyme responsable de la dégradation du cholécalciférol et du calcitriol. Une analyse génétique par NSG confirme une mutation hétérozygote de CYP24A1 combinant : c.62del (p.Pro21ArFs 8) et c.428_430 del (p.Glu143del), mutations décrites de classe V. Depuis 1 an, l’administration de rifampicine 300 mgx2/J permet de normaliser le bilan phosphocalcique : calcium 2.6 mmol/L, PTH 15 ng/ml, 1-25 vitD 46 pg/ml. Conclusions : Les mutations inactivantes de CYP24A1 sont une cause rare d’hypercalcémie : elles contre indiquent la supplémentation en vitamine D et l’exposition solaire. La rifampicine, inducteur enzymatique stimulant la CYP3A4 et favorisant le catabolisme des métabolites de vitamine D, est un traitement efficace et bien toléré pour cette affection (Hawkes & al. J ClinEndocMetab 2017).

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    المساهمون: CHU du Sart Timan, Université de Liège, Hospital Pitié Salpétrière, Charles Foix

    المصدر: Joint National Symposium of the Belgian Lipid Club and the Royal Belgian Society of Laboratory Medicine 2017, Bruges, Belgium [BE], 24 novembre 2017

    الوصف: Background Calcium is the most frequent component of urinary stones, and hypercalciuria is the main risk factor in recurrent stone-formers. The oral calcium load test is a dynamical biological test that determines the origin of hypercalciuria in order to optimize the treatment. However, there is little literature about it, and it seems to have lost popularity in daily practice, this why we studied a population of stone-formers who underwent the oral calcium load test. Methods Between 2013 and 2016, we prospectively recruited 117 recurrent calcium stone-formers. After 2 days of calcium restricted-diet, patients had urinary and blood sampling at baseline and 120 min after the intake of 1 g of calcium per os. Blood and urinary parameters were assessed during the dynamical test, including stone risk factors, calcium metabolism and bone evaluation. According to these results, patients were classified in three groups: resorptive, renal or absorptive hypercalciuria. Results First, 19 patients were diagnosed with normocalcemic primary hyperparathyroidism, assessed by inappropriate parathormone decrease (41.41±12.82 vs. 54.06±13.84% p<0.01) in regard to calcemia. The measurement of ionized calcium was mandatory in order to detect induced hypercalcemia after calcium intake. These patients also had higher beta-crosslaps, lower phosphate reabsorption threshold and lower distal third radius bone mineral density. The treatment of this first group of patient is the hyperparathyroïdectomy. Fasting hypercalciuria was present in 39 patients with urinary calcium >0.37mmol/mmol of creatinine, and without hyperparathyroidism, classified thus as renal hypercalciuria. The treatment of these patients should include adapted calcium intake and thiazids. The third group included 34 patients with absorptive hypercalciuria defined by the presence of delta urinary calcium/creatinine <0.6mmol/mmol between 0 and 120 min, and without any other significant abnormality. Finally, the test result was not reliable for 33 cases because of ...

    وصف الملف: A0

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    المصدر: EBF 4th YSS : The BioA Brain : Embracing new ideas, Ghent, Belgium [BE], from 15-03-2018 to 16-03-2018

    الوصف: Vitamin D is a very well known prohormone that plays a crucial role in the regulation of calcium and phosphate homeostasis, together with rickets and osteomalacia prevention. Recently a relationship between the levels of vitamin D in serum and the presence of primary open angle glaucoma has also been demonstrated (Goncalves et al. 2015). A major risk factor in this affection is the increase of the intraocular pressure due to aqueous humor draining blockage. However, the screening of the status of vitamin D metabolites in the aqueous humor has not been performed yet. As a consequence our objective was to developed a method for the determination of the main metabolites of vitamin D (including 24,25(OH)2D2/D3 and 25(OH)D2/D3) in aqueous humor by LC-MS/MS. The main challenges derived from this method development are related to two main drawbacks: the limited sample volume and the low levels of analytes expected. On the one hand, since the aqueous humor is extracted during the cataract surgery, only a few microliters can be drawn, and this can be performed only once. Besides, an initial screening of the normal levels in samples has shown very low levels in patient samples (from low ng/mL to pg/mL). This leads to the worst case scenario: an extremely low absolute amount of analite available to be measured within the system. In order to overcome these problems, the proposed sample preparation is based on a simple liquid-liquid extraction followed by derivatization with the commercially available reagent Amplifex®. This has permitted to reach these extremely low levels with an accurate sample preparation. The proposed methodology is under validation process.

    العلاقة: https://orbi.uliege.be/handle/2268/221404Test; info:hdl:2268/221404