Objective To analyze the mutation of MUT with Sanger sequencing technology to explore the feasibility of its application in prenatal diagnosis.Methods MUT sequencing was performed in 24 pedigrees who had history of isolated methylmalonic acidemia (MMA) babies and came to the First Affiliated Hospital of Zhengzhou University and Newborn Screening Center of Maternal and Child Health Hospital of He'nan Province between October 2012 and June 2015 for genetic counseling.Meanwhile,another 100 cases of normal controls also had their MUT gene sequence analyzed.After confirming the genotype of each pedigree,we collected the villi of nine high-risk fetuses in nine pedigrees whose parents were prepared for prenatal diagnosis.Results Totally,25 kinds of MUT gene mutations were identified among the 24 isolated MMA pedigrees,in which 11 were novel mutations including one nonsense mutation [c.616C＞T(p.Q206X)],six missense mutations [c.613G＞A(p.E205K),c.894T＞G(p.1298N),c.1009T＞C(p.F337L),c.1154G＞T(p.L385W),c.1663G＞A(p.A555T) and c.1675G＞A(p.R559G) and four frame shift mutations [c.626-627insC(p.P209Pfs*2),c.755-756insA(p.H252Qfs*6),c.756-757insA(p.M253Nfs*5) and c.1581-1582insA(p.A528Ifs*4)].None of the above mutations was detected in the controls.Finally,among the nine pedigrees for prenatal diagnosis,two were determined to have normal MUT gene,four were found to be heterozygous mutation carriers of MUT gene and three were confirmed as complex heterozygous or homozygous mutation carriers.Families of fetus who had normal MUT gene or fetuses who were carriers chose to continue the pregnancy,while those who had heterozygous mutation of MUT gene chose termination.The results of follow-up of newborns were consistent with that of prenatal diagnosis.Conclusions We found two novel mutations in MUT gene that might lead to isolated MMA.And Sanger sequencing technology for MUT gene sequencing analysis might effectively avoid the birth of isolated MMA children.

Objective To observe the effect of Chaijin-Huayu decoction combined with endoscopic minimally invasive for gallbladder polyposis and its effect on quality of life.Methods A total of 91 patients with gallbladder polyposis were selected from March 2014 to early March 2017 outpatients and wards of Hebei Provincial Traditional Chinese Medicine Hospital.According to the method of random number table,the paitents were randomly divided into the observation group (n=46) and the control group (n=45).After three courses of treatment,the total effective rate,TCM symptom score and quality of life were observed in both groups,and the postoperative complications of the two groups were compared.Results After three courses of treatment,the total effective rate of the observation group was 91.3％ (42/46),while that of the control group was 88.9％ (40/45).There was no significant difference between the two groups (x2=0.149,P=0.592).In the observation group,the scores of subcardiac pycnosis and belching,right flank distended pain and burp were lower than those of the control group (t were 2.431,3.560 and 2.891 respectively,all P＜0.05).In the SF-36 scale,the scores of mental health,social function,physical pain,physiological function,emotional function,vitality,physiological function and overall health of the observation group were higher than those of the control group (t were 2.342,2.831,2.765,2.545,2.485,2.650,2.582,2.325 respectively,all P＜0.05);The incidence of surgical complications of the observation group was 2.2％ (1/46),while that of the control group was 17.8％ (8/45),and the difference between the two groups was statistically significant (x2=0.149,P＞0.05).Conclusions Chaijin-Huayu decoction combined with minimally invasive choledochoplasty could relieve symptoms,improve quality of life and reduce postoperative complications in patients with gallbladder polyposis.

AIM: To explore the diagnostic value of 18 MHz color Doppler ultrasonography for epiretinal membrane.METHODS: A total of 44 cases(80 eyes)of patients with proposed diagnosis of cataract and vitreous opacity by fundus examination in our hospital between January 2020 and January 2022 were collected, and the affected eyes were examined by optical coherence tomography(OCT)and 18 MHz color Doppler ultrasonography, and the differences in the diagnostic sensitivity, specificity, and accuracy were compared between 18 MHz color Doppler ultrasonography and OCT for the diagnosis of epiretinal membrane.RESULTS: In the 80 eyes detected by 18 MHz color Doppler ultrasonography, 62 had epiretinal membrane and 18 had non epiretinal membrane. Totally 54 eyes were confirmed to have epiretinal membrane by OCT, 13 eyes were not diagnosed with epiretinal membrane, 5 eyes were missed diagnosis, and 8 eyes were misdiagnosed. The diagnostic consistency between 18 MHz color Doppler ultrasonography and OCT was high(Kappa=0.892, P<0.05); the 18 MHz color Doppler ultrasonography detection sensitivity of epiretinal membrane was 92%, specificity was 62%, missed diagnosis rate was 8%, misdiagnosis rate was 38%, and accuracy was 84%; compared with OCT detection, 18 MHz color Doppler ultrasonography detected a lower specificity, correct rate, positive prediction accuracy, negative prediction accuracy, and higher misdiagnosis rate(all P<0.05), and the difference in diagnostic sensitivity compared with leakage rate was not statistically significant(all P>0.05).CONCLUSION: 18 MHz color Doppler ultrasonography has some value in identifying epiretinal membrane lesions and is consistent with OCT testing.