BACKGROUND:There are few genetic data related to nonsyndromic cleft lip and palate in Xinjiang Uygur population. OBJECTIVE:To investigate the relationship between interferon regulatory factor 6 (IRF6) and non-syndromic cleft lip and palate in Xinjiang Uygur population. METHODS:A total of 100 Uyghur patients with non-syndromic cleft lip and palate from Xinjiang were included as case group, and meanwhile, 60 children with upper respiratory infection were enrol ed as controls. Next-generation sequencing was used to detect coding region, 5’UTR and 500 bp before exon1 of IRF6 gene, and sequencing results were compared with the information on the genome database. RESULTS AND CONCLUSION:Eleven high-frequency SNPs were found:rs861019, rs7552506, rs2235377, rs2235371, rs2013162, rs7545538, rs7545542, rs12403006, rs846808, rs34743335, rs2235373. The frequencies of al eles of loci rs7545538 (C>G, P=0.007), rs7545542 (C>T, P=0.044) and rs2235373 (G>A, P=0.049) were significantly different in the case group and control group;the genotype distribution of rs7545538 showed significant difference between the case group and control group (P=0.037);the genotype distribution and the frequency of al eles of other loci had no significant difference between the case group and control group (P>0.05). Two blocks were identified in the 11 high-frequency SNPs. There were four common haploid types in Block 1:CCGGT>CCGAT>CACAT>TAGAC, and the most significant single type was CCGAT (P=0.032). There were three common haploid types in Block 2:TAC>ATG>TAG, and the most significant single types were TAC (P=0.009) and TAG (P=0.003). These findings indicate that IRF6 gene polymorphisms are probably associated with the occurrence of non-syndromic cleft lip and palate in Xinjiang Uygur population.

Objective To evaluate the safety and efficacy of super mini-percutaneous nephrolithotomy (SMP) by ultrasound-guided renal access in pediatric with renal calculus.Methods From May to August 2015, 20 pediatric patients with upper tract stones underwent the SMP by ultrasound guidance.The patients aged 11-144 months , median age 31.5 months, The stone size ranged 0.8-2.5 cm, mean(1.48 ±0.59) cm.Among the 20 children, single pelvis stones were in 8, multiple stones in 10 and upper ureter stones in 2.All patients had no previous surgery treatment.The SMP system consists of a F6.0 -7.5 nephroscope and a modified F12-14 access sheath with suction-evacuation function.Nephrostomy tract dilation was performed up to F12-14 and lithotripsy procedure was performed by using pneumatic lithotripter.Nephrostomy tube or double J stent was placed only if clinically indicated.Results The stone size was 0.8-2.5 cm ,mean (1.48 ± 0.59)cm.Among the 20 children, there were 8 patients with single pelvis stone, 10 with multiple stones and 2 with upper ureter stones.All the patients were completed successfully without surgery conversion.Mean operative time ranged 6-40 minutes ,mean(17.6 ± 11.6) minutes.The stone free rate was 100％ after the evaluation in the postoperative day.The hemoglobin drop was 2-16 g/L,mean (7.6-± 4.1) g/L.No major complications occurred, neither patient required transfusion.The tubeless PCNL without double J stents and nephrostomy tubes placed were achieved in all patients.Only 14 patients had a ureter catheter placement for one day.The average hospital stay ranged 1-4 days, mean (2.4 ± 0.8) days.Conclusions SMP could be a safe and effective treatment for kidney stone up to 2.0 cm in pediatric cases with advantages of short recovery time, high stone free rate and no catheter placement.SMP could be the ideal procedure for children with upper urinary tract calculus.

Objective:To explore potential signaling pathways and genes related to vitiligo progression by using bioinformatics methods.Methods:A vitiligo genechip dataset GSE75819 was downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were screened between lesional and non-lesional skin tissues from 15 Indian patients with vitiligo with the dataset GSE75819 by using LMFit and eBayes functions in R LIMma package. The Kyoto Encyclopedia of Genes and Genomes (KEGG) -based pathway analysis, Gene Ontology (GO) analysis and Gene Set Enrichment Analysis (GSEA) were carried out to identify enriched pathways and functions of the DEGs. Protein-protein interaction networks were established to screen hub genes from the DEGs. In addition, lesional and non-lesional skin tissue specimens were obtained from 8 patients of Han nationality with vitiligo vulgaris in Hospital of Xinjiang Traditional Uyghur Medicine between January and June in 2019, and real-time quantitative PCR was performed to verify the expression of the top 10 up- or down-regulated DEGs.Results:Compared with the 15 non-lesional skin tissues, a total of 148 DEGs were identified in the 15 lesional skin tissues. Among these DEGs, KRT9, CXCL10, C8ORF59, TPSAB1 and RPL26 were the top 5 up-regulated genes, and SILV, RPPH1, TYRP1, MLANA and LOC401115 were the top 5 down-regulated genes, which were all verified by real-time quantitative PCR in the lesional and non-lesional skin tissues from the 8 patients of Han nationality with vitiligo. GO analysis showed that the DEGs were chiefly enriched in translational initiation, cellular response to lipopolysaccharide, ribosomes, ribosomal subunits and structural constituents of ribosomes. KEGG analysis showed that the DEGs were chiefly enriched in tyrosine metabolism, peroxisome proliferator-activated receptor signaling pathway, oxidative phosphorylation and Toll-like receptor signaling pathway. Four hub genes, including UPF3B, SNRPG, MRPL13 and RPL26L1, were screened out by protein-protein interaction analysis.Conclusion:KRT9, CXCL10, C8ORF59, TPSAB1, RPL26, SILV, RPPH1, TYRP1, MLANA and LOC401115 genes may serve as potential diagnostic molecular markers and therapeutic targets for vitiligo.

Objective:To analyze the composition and clinical characteristics of urinary calculi in infants in Xinjiang.Methods:The clinical data of 75 infants with urinary calculi admitted to the People′s Hospital of Xinjiang Uygur Autonomous Region from January 2016 to December 2021 were retrospectively analyzed, including the general situation of the children, stone-related parameters, random urine pH value, urine culture and biochemical examination results. The serum uric acid, serum calcium, urine pH value, positive rate of urine culture, and stone length between infants with and without ammonium urate stones were compared. Measurement data conforming to normal distribution were expressed as mean ± standard deviation ( ± s), and independent sample t-test was used for inter-group comparison. Measurement data that did not conform to the normal distribution were expressed as the median (interquartile distance) [ M ( Q1, Q3)], and Mann-Whitney U test was used for comparison between groups. The Chi-square test, continuity-corrected Chi-square test or Fisher exact probability method were used for the comparison of count data. Results:The median age of infants with urinary calculi was 23.04 months, and the ratio of male to female was 3.2∶1. More than half of the infants (81.3%, 61/75) came from rural areas, 57.3% (43/75) were malnourished, 33.3% (25/75) were complicated with urinary tract infection, and 8.0% (6/75) were combined with urinary system congenital malformation. The calculi were found in 53 cases (70.67%) of kidney, 27 cases (36.0%) of ureter, 17 cases (22.67%) of urethra and 16 cases (21.33%) of bladder. The analysis of calculi composition showed that there were 44 cases (58.67%) of ammonium urate, 39 cases (52.0%) of calcium oxalate, 14 cases (18.67%) of apatite carbonate and 7 cases (9.33%) of uric acid. Kidney calculi was more common in female infants ( P=0.011). Compared with the infant group ( n=19), calcium oxalate stones were more common in the preschooler group ( n=56) ( P=0.039), but there were not statistical difference in the incidence of ammonium urate, apatite carbonate and uric acid stones. There were not statistical difference in gender, age, place of residence, nutritional status, serum uric acid, serum calcium, urine pH value, positive rate of urine culture, stone maximum diameter and incidence of bladder stones between ammonium urate group and non-ammonium urate group. Conclusions:The incidence of urinary calculi in infants is higher in boys, and the most common site of calculi is the upper urinary tract, especially in female kidney calculi. Ammonium urate is the main component of urinary calculi in infants. Calcium oxalate stones are more common in preschooler group. Infants with urinary calculi are mostly rural residents, and malnutrition and urinary tract infection are more common.

【Objective】 To analyze the clinical characteristics of children with ammonium urate stones in Xinjiang, so as to provide reference for the prevention and treatment of this disease. 【Methods】 The clinical data of all children with ammonium urate stones admitted to the People’s Hospital of Xinjiang Uygur Autonomous Region from 2016 to 2021 were retrospectively analyzed, including age, sex, body mass index, stone site, stone size, stone component, urine pH, urine culture and biochemical examination results. The serum total protein, albumin, sodium, potassium, calcium, magnesium, uric acid and urine pH were compared between the pure and mixed groups. 【Results】 A total of 61 children (31.6%) had ammonium urate stones, their average age was (4.05±3.37) years, and the male to female ratio was 2.21∶1. Among them, there were 37 cases (60.7%) of renal calculi and 50 cases (82.0%) of upper urinary calculi. The most common component of mixed ammonium urate stones was calcium oxalate, including calcium oxalate monohydrate, calcium oxalate monohydrate and calcium oxalate dihydrate. Compared with mixed type, children with pure stone type had a younger age (P=0.001) and a smaller stone size (P=0.003). Positive urine culture was detected in 14 cases (23.0%), 7 of which (50% were infected with Escherichia coli, and 11 (78.6%) with non-urease bacteria. 【Conclusion】 Non-urease bacteria are the main pathogens of urinary tract infection in children with ammonium urate stones. The incidence is higher in boys, and the most common stone location is upper urinary tract. Calcium oxalate is the most common mixed component. Pure type is more common in young children and the stones are relatively small.