1.An association study on Gilles de la Tourette's syndrome and catechol-O-methyl transferase gene polymorphism
Jinhua SUN ; Lanting GUO ; Aihua YUAN ; Yasong DU ; Weidong JI
Chinese Journal of Behavioral Medicine and Brain Science 2012;21(5):403-406
ObjectiveTo investigate the association between catechol-O-methyl transferase (COMT)gene polymorphism and Gilles de la Tourette' s syndrome(GTS).MethodsUsing Amplification Refractory Mutation System(ARMS) PCR genotyping assay method,a polymorphism (val158met) of COMT gene was genotyped in 112 of all GTS patients ( total GTS group) including 54 GTS-alone patients group,48 GTS + ADHD patients group among of them and 71 healthy controls.The correlation between positive association of polymorphism (val158met)of COMT gene in GTS and the age of onset in patients with GTS was also analyzed.ResultsCompared with healthy controls group,genotype of val158met did not differ in total GTS patients group or alone-GTS patients group (χ2 =0.56,P=0.756;χ2 =1.05,P=0.600 respectively).There was also no significant difference (P>0.05)in allele distribution of val158met in total GTS patients group or alone-GTS patients group compared with controls group respectively (χ2 =0.18,P=0.669;χ2 =0.29,P=0.593 respectively).However,genotype distribution of val158met was significantly different between GTS + ADHD patients group and controls group( χ2 =6.35,P =0.041 ).The frequency of the val allele of this locus was significantly higher in GTS + ADHD patients group than those in controls group ( χ2 =5.49,P =0.019 ).The mean age of onset (6.80 ± 1.54 ) in 36 children within GTS + ADHD patients group with the val/val geantype of COMT gene val158met polymorphism was significantly earlier than the mean age of onset (8.04 ± 1.54)in 12 children in val/val genotype (P =0.016 ).ConclusionPolymorphism (val158met) of COMT gene may be associated with GTS children with comorbid ADHD,which may play an important role to make the age of onset in children with GTS become earlier.
2.Ureteroscope/flexible combined with balloon in the treatment of ureteral stricture with stones in transplanted kidney: a report of 9 cases in a single center
Xin ZHANG ; Jianjun CHENG ; Pengjie LI ; Qiang ZHENG ; Lanting DU ; Pengyu SHEN ; Hongyao LIU
Journal of Modern Urology 2023;28(12):1075-1078
【Objective】 To evaluate the efficacy and safety of ureteroscope or flexible ureteroscope combined with balloon dilatation in the treatment of ureteral stricture with renal calculi in transplanted kidney. 【Methods】 The clinical data of 9 patients treated in our hospital during 2016 and 2022 were reviewed. The changes of the width of hydronephrosis, levels of creatinine and urea nitrogen, reoperation, and re-dwelling of stents were analyzed. 【Results】 One patient failed the operation because the guide wire could not be inserted, and the other 8 patients successfully completed the surgery. The stents were removed 6 to 8 weeks after surgery. During the follow-up of 8 to 48 months, no recurrence of renal calculi occurred; 5 patients had no recurrence of ureteral stricture; 3 patients (cases 4, 6, 9) underwent regular ureteral stent replacement due to hydronephrosis; the width of hydronephrosis, creatinine and urea nitrogen levels of 8 patients were significantly improved (P<0.05). 【Conclusion】 Ureteroscope/flexible with balloon dilatation is safe and effective in the treatment of transplanted kidney with ureteral stricture and kidney stones.