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Objective To explore mutation diagnosis and discuss the pathogenic and clinical characteristics of neurofibromatosis type 1 (NF1).Methods DNA sequencing combined with denaturing highperformance liquid chromatography (DHPLC) method was used to diagnose patients and parents.Results A new nonsense mutations c.503C ＞ G(p.S168 *) was identified.Conclusions NF1 is a rare autosomal dominant genetic disease.Most of them are caused by new mutations.Genetic diagnosis of sporadic cases is very important for treatment and the future generations.
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Objective To investigate the efficacy of transabdominal ultrasound interventional puncture combined with medicine in the treatment of ovarian chocolate cysts. Methods According to the different treatment methods will be January 2015 to December 2016 in Yuyao People's Hospital 70 cases of patients with ovarian chocolate cyst group: the control group with washed cysts + ethanol sclerotherapy by transabdominal ultrasound interventional puncture + urokinase solution, the observation group in the control group based on the addition of triptorelin;observed the body hormone before and after E2 two patients in the treatment group, follicle stimulating hormone, serum luteinizing hormone, FSH/LH, antral follicles level changes, complications, clinical treatment, and the relevant data for comparative analysis. Results Abdominal ultrasound interventional puncture and drug treatment (observation group) treatment of ovarian chocolate cyst is better than transabdominal ultrasound interventional treatment (control group), the stability of the body hormone levels of patients than the control group, the complication rate was lower than the control group, the total efficiency of clinical treatment was higher than the control group, the difference was statistically significant (P <0.05). Conclusion The patients with ovarian chocolate cyst transabdominal ultrasound interventional puncture and drug treatment effect significantly, can effectively improve the patients body hormone level, low complication rate, the total effective rate of the treatment is high, it is worthy of widely used treatment of patients with ovarian chocolate cyst.
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Objective To investigate the clinical features and the gene mutation of patients with spinocerebellar ataxia type3 and type7.Methods The trinucleotide repeat mutations were detected by polymerase chain reaction (PCR),agarose gel electrophoresis method,and DNA sequencing in 13 patients,4 related members and 4 common members from 3 spinocerebellar ataxia families.Results Among the 13 patients,four patients had SCA3/MJD(CAG) n expansion mutation(n = 65 ～ 74),nine patients had SCA7 allele expansion for 40 ～ 52 times.Patients with type 3 or 7 showed significant difference in nervous system injury.Conclusion The difference of clinical feature might be used in diagnosis of SCA3/MJD and SCA7,but genotype determination would be the only method of definite diagnosis.