Application of mapping allele with resolved carrier status technique for preimplantation genetic testing in carriers with balanced chromosomal translocations / 中华医学遗传学杂志

OBJECTIVE@#To assess the application value of mapping allele with resolved carrier status (MaReCs) technique for preimplantation genetic testing (PGT).@*METHODS@#The characteristics of MaReCs for PGT and outcome of patients were retrospectively analyzed.@*RESULTS@#Compared with those who could not use the technique, carriers who have used the MaReCs technique were younger, had significantly higher level of anti-Mullerian hormone, more antral follicles, occytes, mature occytes, biopsied embryos and euploid embryos, and lower risks for de novo chromosomal abnormality (P 0.05). Carriers undergoing MaReCs test could preferentially select embryos with normal chromosome structures for the transfer.@*CONCLUSION@#Application of MaReCs has a prerequisite for having a minimum number of occytes and biopsied embryos and using discarded embryos sometimes. MaReCs is efficient for the detection of carrier status of embryos and attaining higher rate of pregnancy and live birth, which can significantly improve the outcome for couples carrying chromosomal translocations.

Analysis of chromosomes of embryos derived from translocation carriers during preimplantation genetic diagnosis cycles / 中华医学遗传学杂志

OBJECTIVE@#To explore the effect of chromosomal translocations on the composition of embryonic chromosomes and its mechanism.@*METHODS@#For 52 couples with one partner carrying a chromosomal translocation, results of next generation sequencing of all embryos derived from 61 cycles were divided into different groups based on the type of translocations, gender of the carrier, and maternal age. Effect of parental chromosomal translocations on the composition of embryonic chromosomes of each group was analyzed.@*RESULTS@#A significant difference was found between carriers of reciprocal and Robertsonian translocations in terms of proportion of abnormal embryos and structurally normal chromosomes (63.3% vs. 27.5%, and 1.1% vs. 0.3%, respectively). Compared with male carriers, there was an increase in the rate of abnormalities for female carriers (67.2% vs. 58.3% for reciprocal translocations, and 45.5% vs. 13.8% for Robertsonian translocations). The risk for chromosomal abnormality also increased with the maternal age. No significant difference was found in the proportion of abnormal embryos between carriers divided by involvement of acrocentric chromosomes or terminal chromosomal breakpoints.@*CONCLUSION@#The types of parental translocation, gender of carrier, maternal age, and interchromosomal effect have certain effect on the composition of embryonic chromosomes.

Effect analysis of fertility preserving surgery for the treatment of primary ovarian mucinous carcinoma / 中国基层医药

Objective To analyze the clinical value of ovarian surgery in the treatment of primary ovarian mucinous carcinoma patients with fertility requirements.Methods 51 cases with fertility requirements with primary ovarian mucinous carcinoma who received surgical treatment were analyzed.The postoperative serum follicle stimulating hormone (FSH) and luteinizing hormone (LH),estradiol (E-2),anti Mullerian hormone (AMH) were deteced.The patients were followed up for 3 years,the survival rate and fertility were observed.Results Of 51 patients underwent surgery,postoperative 7d,14d,the FSH,LH levels in serum were higher than before operation (F=24.198,21.554,all P<0.05),E-2,AMH,PSV values were lower than before operation (F=24.407,35.028,11.064,all P<0.05).During the follow-up period to June 2015,there were 4 patients died of tumor recurrence,2 patients were lost to follow-up,45 patients survived,the survival rate was 88.23%.Of 45 patients survived,41 patients were normal menstrual cycle,menstruation,menstrual cycle 26-31 d,average (28.2±2.2)d;4 patients with irregular menstruation.Married women in the follow-up of 44 cases,including 28 patients with successful pregnancy,the pregnancy rate was 63.64%,there were 4 cases of spontaneous abortion,pregnancy in 3 patients because of abortion,pregnancy examination found 17 cases of abnormal pregnancy,4 cases of premature delivery.Conclusion In patients with primary ovarian mucinous carcinoma,it is feasible to use fertility preserving function,and the pregnancy rate is high,but the follow-up and monitoring should be strengthened to avoid the bad prognosis.

Clinical comparison of four treatment methods for cesarean scar pregnancy / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the best approach to treatment of cesarean scar pregnancy (CSP).</p><p><b>METHODS</b>A total of 138 patients with CSP treated between January and December, 2013 were retrospectively analyzed. The patients were treated with conservative drug therapy, direct curettage, uterine curettage after embolization, or open or transvaginal surgery. The amount of blood loss, proportion of patients with blooding loss greater than 50 mL, hospitalization days, and hospitalization expenses were compared among the groups.</p><p><b>RESULTS</b>The median volume of blood loss was 370 mL in the conservative treatment group, 59 mL in direct curettage group, 67 mL in interventional therapy group, and 1425 mL in the surgical group, and the proportion of patients with blood loss over 50 mL was 76.9%, 38.8%, 27.5%, and 100% in the 4 groups, respectively. The midian hospital stay of the 4 groups was 9.0, 4.0, 6.0 and 10.0 days, with median hospitalization expenses of 12281.0, 3843.5, 14805.0, and 17202.2 RMB Yuan, respectively. All these data were significantly different among the 4 groups (P<0.05).</p><p><b>CONCLUSION</b>Direct curettage surgery should be encouraged for treatment of CSP. Embolization therapy can reduce the risk of bleeding but is associated with potential complications and more costly, and should be performed with caution. Open or trasnvaginal surgery can be considered in difficult cases of CSP, and its combination with interventional therapy is an option to better preserving the uterus.</p>

Clinical study on continuous oral dosing of etopside combined with prednisone in the treatment of elderly patients with unspecific peripheral T-cell lymphoma / 白血病·淋巴瘤

Objective To investigate the efficacy and toxicity of etoposide combined with prednisone (EtoP regimen) for elderly patients with unspecific peripheral T-cell lymphoma (PTCL-U) compared with the CHOP regimen.Methods 23 elderly PTCL-U patients were randomly assigned to EtoP group (n =12) or CHOP group (n =11).The curative effects and the adverse reactions were analyzed and compared between the two groups by Log-rank test and x2 test.Results The overall response (OR) rate was 66.67 ％ (8/12) in EtoP group and 63.64 ％ (7/11) in CHOP group.There was no statistically significant difference between the two groups(x2 =0.023,P =0.879).The progression-free survival (PFS) was 7.55 months in EtoP group and 4.38 months in CHOP group,statistically significant difference were observed between the two groups (x2 =23.000,P =0.011).The overall survival (OS) was 15.02 months in EtoP group and 12.26 months in CHOP group,no statistically significant difference was observed between the two groups (x 2 =14.985,P =0.597).The main side effects were bone marrow depression and digestive tract toxicity,no hematology toxicity and digestive tract toxicity of grade Ⅲ-Ⅳ occurred in EtoP group.Of those in CHOP group were 36.36 ％ and 27.27 ％.Conclusion For elderly PTCL-U patients,EtoP regimen is an effective and well tolerated therapeutic schedule.