1.The experience of diagnosis and treatment of primary ureteral polyps:a report of 27 cases
Min GUO ; Yingguo TU ; Jianchang YANG ; Zhibin LI ; Zhaoming XIA
Chinese Journal of Primary Medicine and Pharmacy 2014;(20):3070-3071
Objective To explore the diagnosis ,treatment methods and clinical features of primary ureteral polyps.Methods Clinical data of 27 cases with primary ureteral polyps were analyzed retrospectively .The clinical features and treatment of this disease were analyzed .Results 7 cases were treated with polypectomy ,10 cases with basement fulguration by ureteroscopy operation or polyps-removing by ureter forceps ,4 cases with distal ureter resec-tion and termino-terminal anastomosis ,4 cases with lesions ureter resection and bilateral ureteric reimplantaion and 2 cases with nephrectomy due to nonfunctioning kidney .All cases were confirmed to be primary ureter polyp by pathology.All cases were followed up for 6-12 months with no recurrence and canceration ,only 1 case had ureteral stenosis.Conclusion Primary ureteral polyps is a benign disease with rare malignancy .The primary and effective treatment method is surgery which has few complications and good effect .
2.Mutation of DKC1 Gene in a Family of Dyskeratosis Congenita
Yingguo DING ; Wei JIANG ; Yong YANG ; Dingfang BU ; Xixue CHEN ; Ping TU ; Xuejun ZHU
Chinese Journal of Dermatology 1994;0(06):-
Objective To identify the mutation of DKC1 gene and its inheritance in a pedigree with dyskeratosis congenita (DKC). Methods The mutation was detected by polymerase chain reaction(PCR)and DNA sequencing, and restriction endonuclease digestion was performed to confirm the mutation. Results A transition mutation of C to T (1058C-T) in DKC1 gene was found in the proband and his brother. This mutation results in an amino acid change from alanine to valine (A353V) in dyskerin protein. The proband′s mother and sister were carriers of this mutation gene with no phenotype of DKC. Conclusion This pedigree is an X-linked form of DKC with 1058C-T mutation in DKC1 gene.