[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].

Objective: To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology.

Methods: A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH.

[Effects of 1,25-dihydroxyvitamin D3 in rats with experimental autoimmune thyroiditis].

Objective: To observe the effect of 1,25(OH)2D3 on thyroid inflammation and Th1/Th2 cells in rats with experimental autoimmune thyroiditis (EAT).

Methods: Forty-eight female Wistar rats were randomly divided into 4 groups, namely the prevention group treated with 1, 25-(OH)2D3 from 0 to the 6th week (n=10), treatment group with 1,25(OH)2D3 treatment from the 2nd to the 8th week (n=10) after immune sensitization, positive control group (n=12) and the negative control group (n=16). All the rats were challenged with porcine thyroglobulin for immune sensitization until the 6th or 8th week except for those in the negative control group.