Phenotype analysis of 11 fetuses with 22q11.2 microduplication diagnosed prenatally / 中华全科医师杂志

Objective:To analyze the clinical phynotypes of fetuses with 22q11.2 microduplications.Method:Eleven fetuses were diagnosed with 22q11.2 microduplications among 2 969 cases who underwent prenatal chromosomal microarray analysis from January 2016 to February 2020. The phenotypes, indications for invasive prenatal diagnosis, genetic results, pregnancy outcomes and postnatal clinical presentation were analyzed.Results:There were 6 cases diagnosed with classic 3.0 Mb microduplication (DiGeorge and velocardiofacial syndromes, DGS/VCFS) in the 22q11.2, 1 case with 1.5 Mb proximal microduplication and 4 cases with distal small segment microduplication (E-H). Out of 11 fetuses with 22q11.2 microduplications,7 cases were inherited, 2 cases was de novo and data were not available for 2 cases. Vicular septal defect and anencephalu were diagnosed by ultrasonography in 2 cases,fetal growth restriction was diagnosed in 2 cases,no any abnormalities were found in remaining 7 cases. Seven cases(3 cases of classic 3.0 Mb microduplication, 1 case of proximal microduplication and 3 cases of distal small segment microduplication) were delivered at full-term;and pregnancy was terminated in 4 cases. Seven infants were followed up after birth, 4 infants were normal, 3 showed abnormal phenotypes.Conclusion:The clinical phenotypes after birth of fetuses with 22q11.2 microduplication are diverse. Prenatal genetic counseling is necessary,so that pregnant women and their families can fully understand the possible clinical phenotypes and make informed choices.

Prenatal diagnosis and genetic analysis of 17 fetuses with skeletal dysplasia / 中华医学遗传学杂志

OBJECTIVE@#To explore strategies of prenatal genetic testing for fetuses featuring abnormal skeletal development.@*METHODS@#Clinical data of 17 fetuses with skeletal dysplasia was collected. The results of genetic testing and outcome of pregnancy were analyzed.@*RESULTS@#For 12 fetuses, the femur-to-foot length ratio was less than 0.9. Thirteen fetuses had a positive finding by genetic testing. One fetus was diagnosed with chromosomal aneuploidy, three were diagnosed with microdeletion/microduplications, and nine were diagnosed with hereditary bone diseases due to pathological variants of FGFR3, COL1A2, GPX4 or ALPL genes.@*CONCLUSION@#For fetuses with skeletal dysplasia characterized by short femur, in addition to chromosomal karyotyping and microarray analysis, sequencing of FGFR3 and other bone disease-related genes can improve the diagnostic rate.

Efficacy observation on acupuncture-moxibustion for urinary retention after surgery for cervical cancer / 针灸推拿医学（英文版）

Objective:To observe the efficacy of acupuncture-moxibustion therapy in treating urinary retention after surgery for cervical cancer. Methods:Fifty eligible patients were randomized into a treatment group and a control group by their visiting sequence, 25 in each group. The control group was intervened by indwelling urethral catheter after gynecological surgery; while the treatment group started to receive acupuncture-moxibustion and cupping treatment at the 7th day after surgery, in addition to the intervention given to the control group. The residual urine volume and total effective rate of the two groups were detected. Results:After 7-day treatments, the total effective rate was 92.0% in the treatment group versus 72.0% in the control group, and the difference was statistically significant (P<0.05). Conclusion:Acupuncture-moxibustion treatment plus cupping based on the conventional intervention is effective for urinary retention after surgery for cervical cancer, worth promoting in clinic.

Effect of laparoscopic surgery for a number of indicators in serum of patients with endometriosis and infertil-ity / 中国基层医药

Objective To observe the effect of laparoscopic operation( LPS) for the treatment of endometrio-sis(EMS) infertile serum matrix metalloproteinase in patients of matrix metalloproteinases-9(MMP-9),tissue inhibi-tors of metalloproteinase-1(TIMP-1) and interleukin-2 (IL-2),interleukin-10(IL-10) .Methods 80 patients with EMS in 2012 August to 2013 August to accept the choice of operation cases,according to the different operation modes for the observation group(received LPS operation therapy) and control group(received open operation treatment), 40 cases in each group.The changes of serum MMP9, TIMP-1, MMP-9/TIMP-1 and IL-2, IL-10, IL-2/IL-10 and 6 months after operation in the two groups were observed before and after treatment,the pregnancy situation were ob-served.Results The MMP-9 levels of the patients in the observation group[(51.21 ±24.01)μg/L] than before treatment[(261.88 ±190.11)μg/L] decreased significantly,and the observation group decreased more obviously than that in the control group;the observation group the level of TIMP-1[ (45.88 ±11.02)μg/L] than in the control group[(25.32 ±6.67)μg/L]increased significantly (t =4.846,P <0.05);observation group MMP-9/TIMP-1 decreased significantly compared with the control group,the difference was statistically significant ( t=3.636,P<0.05);the two group after treatment,IL-2,IL-10,IL-2/IL-10,the difference was statistically significant ( t=4.228, 4.415,3.396,all P<0.05);the observation group the pregnancy rate was 65%,the abortion rate 7.7%,30.0%and the 33.3%was better than that of the control group (χ2 =9.825,4.060,all P<0.05).Conclusion LPS is an effective method in treating EMS,which can increase the serum TIMP-1 and IL-2 levels,reduce MMP9 and IL-10 level;improve the immune index,improve the patient's fertility.