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Objective To investigate the frequency and distribution characteristics of gene mutations in children with phenylalanine hydroxylase(PAH)deficiency in Xinjiang.Methods A total of 230 children diag-nosed with PAH deficiency in Urumqi Maternal and Child Health Care Hospital from January 1st,2015 to February 28th,2023 were enrolled in the study.The variation of PAH gene was analyzed and the variation sites of PAH gene in children with different phenotypes were compared.Results A total of 441 PAH gene va-riants were detected in 230 children with PAH deficiency in Xinjiang,with a total detection rate of 95.87％.A-mong them,2 variants were detected in 227 cases,only 1 variant was detected in 2 cases,and 3 variants were detected in 1 case.217 cases were complex heterozygous variants,and 10 cases were homozygous variants.The high-frequency variant loci were c.158G＞A[23.39％(102/441)],c.728G＞A[11.70％(51/441)],c.688G＞A[5.05％(22/441)],c.721C＞T[3.90％(17/441)],c.611A＞G[3.67％(16/441)],c.1238G＞C[3.21％(14/441)].The high-frequency variant loci for classic PKU were c.728G＞A,c.331C＞T,and c.782G＞A;the high-frequency variant loci for mild PKU were c.721C＞T,c.1068C＞A,and c.1301C＞A;the high-frequency variant loci for children with mild HPA were c.158G＞A and c.688G＞A.There were significant differences in the frequency of high frequency mutations among the above three phenotypes(P＜0.05).Conclusion Mild HPA predominates in children with PAH deficiency in Xinjiang.The hotspot loci of the PAH gene in Xinjiang have been clarified,and specific PAH gene loci have been observed in the three different phenotypes,which can provide theoretical basis for prenatal diagnosis and clinical genetic counselling.
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Objective:To study the genetic profiles of phenylalanine hydroxylase (PAH) gene mutations in neonates with phenylketonuria (PKU) in Xinjiang.Methods:From January 2015 to December 2021,neonates born and genetically diagnosed with PKU in our region were retrospectively included. The genetic profiles of different ethnic groups were analyzed and compared with PKU patients from central, northwest and northern regions of China.Results:A total of 131 neonates with PKU were enrolled, including 82 Han, 25 Hui and 20 Uyghur patients, 4 cases of other ethnic groups. 46, 20 and 14 types of pathogenic variants were detected in each ethnic group with detection rates of 95.1% (156/164), 66.0% (33/50), and 60.0% (24/40), respectively. The variants were mainly missense mutations and located in exons 2, 3, 6,7 and 11. The most common loci in Hui patients were c.158G>A (18.2%), c.728G>A (18.2%) and c.898G>T (9.1%). The most common loci in Uyghur patients were c.158G>A (33.3%), c.355C>T (12.5%) and c.1068C>A (8.3%). c. 898G>T might be most unique in Hui patients and c.355C>T most unique in Uyghur patients in Xinjiang. A novel variant of PAH gene, c.828G>C (p.M276I) in exon 7 was identified. Compared with northern, central and northwestern regions of China, PKU patients in Xinjiang had significantly higher incidence of c.158G>A mutation and lower incidence of c.728G>A mutation ( P<0.05). Conclusions:Missense mutations of PAH gene are common in some regions of Xinjiang. The compositions of PAH gene variations are similar to northwest and northern China with significant differences in hotspots of mutations.
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Objective To investigate the effect of G protein?coupled estrogen receptor (GPER) on the diastolic function of renal interlobular artery and reduce renal ischemia?reperfusion injury in rats. Methods Female ovariectomized rats were divided into control group; ischemia?reperfusion injury (IRI) group;GPER?specific agonist (G1) intervention group;GPER?specific blocker+GPER?specific agonist (G15+G1) intervention group. Histopathological examination (HE staining), renal function test and Paller score were used to identify the success of the model and the degree of kidney damage. In vitro microvascular pressure diameter measuring instrument was used to detect the relaxation and contraction activity of renal interlobular artery in each group. Immunofluorescence technique was used to observe the expression of GPER on the renal interlobular artery. Westernblotting was used to detect the expression of GPER protein in renal interlobular artery of rats in each group. The NO content was determined by a nitrate reductase method. Results Compared with IRI group, serum BUN, Scr level and Paller score in G1 intervention group were significantly decreased (all P<0.05). The systolic rate of renal interlobar artery was significantly increased [(40.76 ± 1.57)％ vs (29.78 ± 1.87)％, P<0.05]. The results of immunofluorescence showed that GPER was expressed in renal interlobular artery smooth muscle cells and endothelial cells, and the expression of IRI group was higher than that of the control group. The expression of G15+G1 intervention group was lower than that of G1 intervention group (all P<0.05). Compared with the IRI group, the NO content in the G1 intervention group increased significantly (all P<0.05). Conclusions During renal ischemia ?reperfusion injury, GPER may regulate the systolic and diastolic activity of the renal interlobar artery by increasing the content of NO, so as to alleviate the renal ischemia?reperfusion injury.
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Objective To analyze the efficacy of percutaneous nephrolithotomy (PCNL)combined with ureteroscopy in treatment of renal staghorn calculi. Methods The data of 126 patients with renal staghorn calculi were retrospectively analyzed in the department of urinary surgery of our hospital. All patients were treated with PCNL combined with ureteroscopy. The related data of preoperative, intraoperative and postoperative were recorded and analyzed. Mean-while, 89 patient with renal staghorn calculi treated by PCNL were selected as control group. The related parameters between two groups were compared. Results Compared with control group,the operation time, amount of bleeding and complication rate of PCNL combined with ureteroscopy group were lower(P<0.05), the stone clearance rate of PCNL combined with ureteroscopy group was higher(P<0.05). Among of PCNL combined with ureteroscopy group,27 patients suffered from fever after surgery and 1 patient had hemorrhage. No renal collection system tear or perforation,damaged pleura, bowel and major vessel occurred. 15 patients had residual stones and were treated by two-stage operation. 48 cases were followed up from postoperative 6-36 months and there wasn't stone recurrence. Conclusion PCNL com-bined with ureteroscopy guided by ultrasound is a good choice in treatment of renal staghorn calculi.
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With the economic development and the deepening of reform in China,more attention has been paid on health.Based on literature from Chinese Journal of Health Statistics in 2008,the number and ranks of practicing doctors,occupancy of hospital beds,the disease spectrums,outpatient per year were analyzed.The results hold it is better for the doctors to practice in more medical institutions.
