Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.

BACKGROUND/AIM: X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, results from loss-of-function mutations in the phosphate-regulating PHEX gene. Elevated fibroblast growth factor 23 (FGF23) contributes to hypophosphatemia in XLH. This study aimed to characterize PHEX variants and serum FGF23 profiles in Taiwanese patients with XLH. PATIENTS AND METHODS: We retrospectively reviewed the records of 102 patients clinically suspected of having hypophosphatemic rickets from 2006 to 2022. Serum intact Fibroblast growth factor-23 (iFGF23) levels were measured on clinic visit days. PHEX mutations were identified using Sanger sequencing, and negative cases were analyzed using whole-exome sequencing. RESULTS: The majority (92.1%) of patients exhibited elevated FGF23 compared with normal individuals. Among 102 patients, 44 distinct PHEX mutations were identified. Several mutations recurred in multiple unrelated Taiwanese families. We discovered a high frequency of novel PHEX mutations and identified variants associated with extreme FGF23 elevation and tumorigenesis. CONCLUSION: Our findings revealed the PHEX genotypic variants and FGF23 levels in Taiwanese patients with XLH. These results are crucial given the recent approval of burosumab, a monoclonal FGF23 antibody, for XLH therapy. This study provides key insights into the clinical management of XLH in Taiwan.

[Determination of 10 elements in the feather of brown-eared pheasant by ICP and AAS].

Crossoptilon mantchuricum (brown-eared pheasant) is an endemic to northern China and one of the state first-protection animals, which is now confined to scattered localities in Guandi Mountains, Guancen Mountains, Luliang Ranges of western Shanxi, and the mountains of north-western Hebei, western Beijing and central Shaanxi. Its range is fragmented by habitat loss because of human activity and other intervention, and isolated populations are resulting in facing the extinction risk from further forest destroyed and other pressures. The trace elements are very important to the growth and development of brown-eared pheasant, and these elements in the feather are closely correlated to the contents in the organs of the bird. By research on the elements contents in the feather, the authors are able to get more information about the growth, development, reproduction, immunity and metabolism function for this bird. The aim of this study is to try providing scientific basis for further enhancing the protection and the artificial breeding. Ten elements including Mo, Zn, Ni, Fe, Mn, Cr, Cu, K, Pb and Cd were determined in the feather of brown-eared pheasant by ICP and AAS, respectively. For the analysis two samples were from Luya Mountain Natural Reserve and Pangquangou Natural Reserve, and one was from Taiyuan Zoo, Shanxi. The contents of the elements in the feather of wild and captive brown-eared pheasants were compared each other. The results showed that the contents of the eight elements the feather from the Zoo were lower than those from Luya Mountain Natural Reserve and Pangquangou Natural Reserve. Moreover, Fe is the highest among those ten elements, Cd was not found, and Mo and Cr were much lower than the others. It is suggested that varying habitats have obvious effects on the elements contents of wild bird body, and wild habitant is more beneficial to the bird growth and development. Applying the results to wild animal management would be favorable to the protection, reproduction and expanding population of rare and endangered birds.

Clinical and experimental study of therapeutic effect of Weixibaonizhuan pills on gastric precancerous lesions.

AIM:To observe the therapeutic effect of Wei-xibaonizhuan pills on gastric precancerous lesions.METHODS: Thirty patients with gastric precancerous lesions were treated with Weixibaonizhuan pills for 3 months. Of the 36 cases, 13 (36.1%) were mild atrophic gastritis, 14 (38.9%) moderate atrophic gastritis and 9 (25.0%) severe atrophic gastritis; among them 22 (61.1%) and 27 cases (75.0%) were accompanied with intestinal metaplasia (IM) and dysplasia (DYS) respectively. Of the 36 patients, 20 were men and 16 women, aged from 30-60 years and those aged 30-59 years accounted for 61.1%. The course of disease ranged from 3 months to 21 years, and 20 (55.6%) of them had a course of 5-10 years. The clinical manifestations were fullness of the abdomen (31 cases),abdominalgia (27 cases), anorexia (30 cases), gas eructation (26 cases), acid regurgitation (6 cases) and loose stool (9 cases). When treatment ended, the improvement of patients' clinical symptoms, atrophy of gastric mucosa, IM and DYS were analysed.RESULTS: After 3 months' treatment with Wei-xibaonizhuan pills,7 cases recovered, 11 cases were much improved, 13 cases showed some improvement, and 5 cases were ineffective; the total rate of symptomatic improvement was 86.1%. Of the 13 cases with mild atrophic gastritis, 11 cases changed into superficial gastritis, and 2 cases had no changes. Of the 14 cases of moderate atrophic gastritis, 4 cases changed into superficial gastritis, 7 cases changed into mild atrophic gastritis, and 3 cases had no changes. Five of 9 cases of severe atrophic gastritis were reduced to moderate atrophic gastritis, and 4 cases had no changes. The total effective rate was 77.8% in chronic atrophic gastritis. Of the 9 cases with mild IM, IM disappeared in 6 cases and 3 showed no change. Of the 10 cases with moderate IM, it disappeared in 2 cases, 5 cases changed to ild IM, and 3 cases had no change. One of the 4 cases of severe IM changed to moderate IM and 3 had no change. The total effective rate was 63.6% in IM. Of the 16 cases of mild DYS, 11 cases showed disappearance of DYS and 5 had no change. In 9 cases of moderate DYS, 2 showed disappearance, 5 changed to mild DYS and 2 had no change. Two cases of severe DYS, both showed no change. The total effective rate was 66.7% in DYS. Before treatment, the I, II, III and IV degree positive expressions of CEA were present in 13, 12, 9 and 2 cases, respectively, whereas after treatment, the positive expressions were present in 25, 7, 3 and 1, respectively. Before treatment, the I, II, III and IV degree positive expressions of PCNA were present in 16, 11, 10 and 4 respectively, but after treatment, they were present in 21, 9, 5 and 1 respectively. In short, the positive expressions of CEA and PCNA of gastric mucosa were significantly decreased after treatment (P < 0.01).CONCLUSION: Weixibaonizhuan pill has a therapeutic effect in gastric precancerous lesions.