1.The effect of self-clotting cutter radiofrequency ablation in curing the hysteromyoma
Xianlan GAO ; Fengchun FAN ; Chunyuan WANG ; Xin LIU ; Ling GUO
Chinese Journal of Primary Medicine and Pharmacy 2010;17(20):2789-2790
Objective To discuss the effect of self-clotting cutter radiofrequency ablation in curing the hysteromyoma. Methods 96 patients with hysteromyoma were selected. Their hysteromyomas were cured by self-clotting cutter radiofrequency ablation through virgina under the direction of B-ultrasound. Then they were followed up for one month, three months and six months after the operation. Results Six months after the treatment,42.71% of the patients were eumenorrhea,44.79% of the patients' menstrual bleeding volumes were few, 12.5% has no change. The cure rate of anaemia was 100%. 1 month,3 months ,6 months after the treatment, the bulks of uterus and myoma were reduced,and the myoma reduced most after six months. 35.42% of the patients were cured,47.92% had remarkable effect, 15.6% had effect, 1.04% had no effect. Total effective rate was 98.72%. Conclusion The clinical effect of self-clotting cutter radiofrequency ablation in curing the hysteromyoma was satisfactory. It was a minimally invasive technique which could keep the integrality of uterus and it was rapid recovery,effective and safe,and easy to operate.
2.A novel deletion mutation in AR gene causes complete androgen insensitivity syndrome in a Chinese family.
Linlin YUE ; Ping WU ; Zengliang XIA ; Chunyuan FAN ; Qingjie XIA
Chinese Journal of Medical Genetics 2010;27(6):631-633
OBJECTIVETo identify the mutation of the androgen receptor (AR) gene in a complete androgen insensitivity family.
METHODSDNA was extracted from peripheral blood samples from family members in the family. PCR and DNA sequencing were then employed to detect the mutation of AR gene.
RESULTSA single nucleotide deletion of nucleotide A in exon 4 of the AR gene (1910delA) was detected in all the three patients in this family, which lead to Asn637Ile and Lys638stop. This mutation was also found in the mother (heterozygote) but was not observed in the normal controls.
CONCLUSIONThe 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome.
Androgen-Insensitivity Syndrome ; genetics ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Receptors, Androgen ; genetics ; Sequence Deletion ; genetics ; Young Adult