Genetic testing and analysis of 2 cases of trisomy 11 mosaicism / 南方医科大学学报

Trisomy 11 mosaicism is clinically rare, for which making diagnostic and treatment decisions can be challenging. In this study, we used noninvasive prenatal testing, chromosome karyotype analysis, chromosome microarray analysis, copy number variation sequencing and fluorescence in situ hybridization for detecting trisomy 11 mosaicism in two cases and provided them with genetic counseling. In one of the cases, the fetus with confined placental mosaicism trisomy 11 presented with severe growth restriction and a placental mosaic level of 44%, and pregnancy was terminated at 25+3 weeks of gestation. In the other case with true low-level fetal mosaicism of trisomy 11, the pregnancy continued after exclusion of the possibility of uniparental disomy and structural abnormalities and careful prenatal counseling. The newborn was followed up for more than one year, and no abnormality was found. Noninvasive prenatal testing is capable of detecting chromosomal mosaicism but may cause missed diagnosis of true fetal mosaicism. For cases with positive noninvasive prenatal testing but a normal karyotype of the fetus, care should be taken in prenatal counseling and pregnancy management.

Robot-assisted laparoscopic total hysterectomy in a patient with giant uterine fibroids and complex pelvic adhesions: a case report / 南方医科大学学报

We report a case of giant hysteromyoma and complex pelvic adhesion treated by robotic assisted laparoscopic total hysterectomy and bilateral salpingectomy. The patient was diagnosed with uterine fibroids after physical examination in 1998 but did not receive any treatment, and regular examinations reported progressive growth of the fibroids. Ultrasound suggested multiple uterine fibroids, and pelvic MRI indicated large uterine fibroids with bleeding. Robot-assisted laparoscopic total hysterectomy and bilateral salpingectomy were performed after relevant examinations, and the operation was completed smoothly. The patient was discharged 4 days after surgery with good appearance of the abdominal wall and good recovery during the follow-up. With its unique advantages, robot-assisted laparoscopy provides a minimally invasive surgical approach for giant hysterectomy with complex pelvic adhesions.

Efficacy of gamma-irradiated adipose-derived stem cells for treatment of thin endometrium in rats / 南方医科大学学报

<p><b>OBJECTIVE</b>Transplantation of adipose-derived stem cells (ADSCs) is associated with potential risks of late complications including tumorigenesis due to the active proliferation of the cells. We aimed to test the effect of transplantation of ADSCs with suppressed proliferation by gamma irradiation in the treatment of thin endometrium in rats.</p><p><b>METHODS</b>ADSCs were isolated from female SD rats and identified by detecting the surface antigens with flow cytometry. After exposure to gamma irradiation at 0, 5 Gy and 10 Gy, the cells were examined for changes in colony-forming ability. Twenty-four female rats with chemically induced thin endometrium were randomized into 4 equal groups and at 6-8 h after modeling, the rats received intrauterine injection of non-irradiated ADSCs (group I), 5 Gy irradiated ADSCs (group II), 10 Gy irradiated ADSCs (group III), or PBS only (group IV). Endometrial pathology was analyzed with HE staining in these rats in the third estrus phase following the cell transplantation.</p><p><b>RESULTS</b>The ADSCs showed a complete loss of proliferative capacity after exposure to 10 Gy irradiation. After the cell transplantation, the endometrium thickness was thicker in group I and II than in group IV (P<0.01), but there was no significant difference between groups III and IV.</p><p><b>CONCLUSIONS</b>Gamma irradiation impairs the proliferative capacity of ADSCs in vitro. Exposure to 10 Gy irradiation causes a total loss of proliferation capacity of the ADSCs, which have no therapeutic potential; 5 Gy irradiation causes partial loss of proliferation capacity of the cells, which still retain the activity to promote endometrial cell regeneration.</p>