Is 25OH Vitamin D Excess before 36 Weeks Corrected Age an Independent Risk Factor for Bronchopulmonary Dysplasia or Death?

International audienceLow 25-Hydroxyvitamin D (25(OH)D) in preterm infants is a risk factor for bronchopulmonary dysplasia (BPD), but increased supplementation failed to demonstrate a beneficial effect on BPD. In neonatal animal models, deficiency and excessive vitamin D exposure have been associated with increased mortality and histological alterations in the lung evocative of BPD. Our hypothesis is that 25(OH)D levels ≥ 120 nmol/L are also a risk factor for BPD or death. This retrospective single-center cohort study included only infants born at <31 weeks gestational age without major malformations with at least a determination of 25(OH)D at <36 weeks corrected age and no determination <50 nmol/L. Routine 25(OH)D determination was performed at 1 month and monthly thereafter. A total of 175 infants were included. Infants with BPD or who died had a significantly lower term and weight, but a similar frequency of 25(OH)D ≥120 nmol/L (50.5% vs. 43.9%, p = 0.53). The logistic regression identified weight (OR 0.997, 95% CI [0.995–0.998]) and term (OR 0.737, 95% CI [0.551–0.975]) as significantly associated with BPD or death; the occurrence of excessive 25(OH)D was not significantly associated (OR 1.029, 95% CI [0.503–2.093]). The present study did not demonstrate any significant association between excessive 25(OH)D after one month of age and BPD or death

Caractérisation fonctionnelle de sept variations faux-sens dans le gène du récepteur sensible au calcium (CASR)

International audienceLe récepteur sensible au calcium (CaSR) est un RCPG qui régule l’homéostasie du calcium extracellulaire (Ca2+e), codé parle gène CASR. Cette régulation se fait par la mobilisation du calcium intracellulaire (Ca2+i) et la voie de signalisationMAPK. Les mutations du gène CASR entraînant une perte ou un gain de fonction mènent à l’hypercalcémiehypocalciurique familiale de type 1 (HHF1) ou à l’hypocalcémie autosomique dominante (HAD), respectivement

Caractérisation fonctionnelle de sept variations faux-sens dans le gène du récepteur sensible au calcium (CASR)

International audienceLe récepteur sensible au calcium (CaSR) est un RCPG qui régule l’homéostasie du calcium extracellulaire (Ca2+e), codé parle gène CASR. Cette régulation se fait par la mobilisation du calcium intracellulaire (Ca2+i) et la voie de signalisationMAPK. Les mutations du gène CASR entraînant une perte ou un gain de fonction mènent à l’hypercalcémiehypocalciurique familiale de type 1 (HHF1) ou à l’hypocalcémie autosomique dominante (HAD), respectivement

Functional characterization of seven missense variants in calcium sensing receptor gene (CASR)

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