[Pilot study of genetic counseling and prenatal diagnosis in androgen insensitivity syndrome: with 3 families reports].

Objective: To explore genetic counseling and prenatal diagnosis strategies for women who have androgen insensitivity syndrome (AIS) family history or pregnancy history of AIS proband. Methods: Three families of complete AIS (CAIS) were retrospectively reported and summarized. The subsequent pregnancies and processes of prenatal diagnosis were followed up. Results: Among three CAIS families, one family had androgen receptors (AR) gene mutation diagnosis; the other two families were diagnosed clinically without gene diagnosis. All three mothers of CAIS probands were in pregnant again when they sought counseling, with gestational weeks between 7－13 weeks. They underwent chorionic villi sampling or amniocentesis in their second trimester (at 12, 16, 17 weeks respectively). Chromosome gender of all three fetuses were 46,XY, which was inconsistent with the ultrasonographic phenotype of external genitalia. All patients chose selective abortion in their second trimester. The external genitalia of all aborted fetuses were female phenotype, which supported the diagnosis of CAIS. Conclusion: Genetic counseling and prenatal diagnosis should be provided to high-risk patients with family history of AIS or proband pregnancy history, so as to achieve the goal of good childbearing and sound childrearing.

Effect of lncRNA AK023948 on rats with postmenopausal osteoporosis via PI3K/AKT signaling pathway.

OBJECTIVE: To investigate the effect of long non-coding ribonucleic acid (lncRNA) AK023948 (AK0) on rats with postmenopausal osteoporosis via the phosphoinositide 3-kinase/protein kinase B (PI3K/AKT) signaling pathway. MATERIALS AND METHODS: Firstly, postmenopausal osteoporosis rat models were established to obtain osteoblasts. The phosphorylation level of AKT was analyzed by controlling the expression of AK0 gene in osteoblasts. Finally, XTT was used to analyze the proliferation of osteoblasts and the messenger ribonucleic acid (mRNA) expression level of caspase in AK0 gene knockout (KO) rat model. RESULTS: In the bone tissue of postmenopausal osteoporosis rats, the levels of phospho-PI3K (p-PI3K), p-Akt, and p-phosphoinositide-dependent kinase-1(PDK1) were significantly decreased (p<0.05). In rat model osteoblasts, the overexpression of AK0 gene upregulated the phosphorylation level of AKT, while the interference with small interfering RNA (siRNA) in AK0 gene decreased that of AKT. Knocking out AK0 gene led to the down-regulation of phosphorylation level of AKT in cells. Moreover, if the AK0 gene was re-expressed in the KO rat model cells, the phosphorylation level of AKT was restored to a certain extent, but still lower than that after the overexpression of AK0 gene. Although the proliferation rate of osteoblasts in estrogen deficiency-related osteoporosis rats was low, the growth rate of osteoblasts with AK0 KO was remarkably lower than that in blank control group (p<0.05). It was also found that there was a certain correlation between AK0 gene and osteoblast apoptosis. CONCLUSIONS: LncRNA AK0 can regulate the phosphorylation level of AKT in osteoblasts of rats with estrogen deficiency-related osteoporosis through the PI3K/AKT signaling pathway, thus regulating the proliferation of osteoblasts. It is speculated that lncRNA AK0 may be an important factor in regulating the PI3K/AKT signaling pathway.

[Clinical study of hysteroscopy combined with laparoscopy in the diagnosis and treatment of unexplained infertility].

Objective: To explore the importance of the diagnosis and treatment value of laparoscopy and hysteroscopy in patients with unexplained infertility. Methods: A total of 519 cases diagnosed as unexplained infertility, received laparoscopy and hysteroscopy in Peking Union Medical College Hospital from May 2012 to December 2015. The causes of infertility were evaluated, and the subjects were followed up to observe the nature pregnancy rate. Results: Among 519 unexplained infertility patients, pelvic abnormalities had been explored in 466 (89.8%, 466/519) cases. Pelvic endometriosis combined with adhesions, pelvic adhesion alone, uterine leiomyoma and uterine cavity polyp were 72.4% (376/519), 12.3% (64/519), 3.7% (19/519) and 1.3% (7/519) respectively. The total natural pregnancy rate within the 3 years of follow up was 53.9% (208/386), and the natural pregnancy rate was 29.8% (31/104) in patients aged 35 years and over. Conclusions: The patients with clinical diagnosis of unexplained infertility should be examined by hysteroscopy and laparoscopy. Under the examination, the causes of infertility could be found more intuitively, and targeted treatment could be carried out to improve the pregnancy rate. The natural pregnancy rate of the elderly patients decrease obviously after operation, and the time of natural trying pregnancy should not be too long.

[Efficacy of medium dose dexamethasone androgen suppression test in the diagnosis of female hyperandrogenism].

Objective: To evaluate the diagnostic value of medium dose dexamethasone androgen suppression tests (DAST) in female hyperandrogenism. Methods: DAST results were retrospectively analyzed in 85 cases of women with hyperandrogenism including 55 cases of congenital adrenal hyperplasia (CAH), 10 cases of testosterone-producing tumors and 20 cases of polycystic ovary syndrome (PCOS) between January 1984 and December 2017 in Peking Union Medical College Hospital. The suppression rate of testosterone and 17 hydroxyprogesterone (17OHP) were evaluated. The cut-off point of suppression rates were calculated by receiver operating characteristic (ROC) curve in the differential diagnosis of CAH and non-CAH causes. Results: The 1-day medium dose DAST was performed simultaneously in 41 cases of CAH patients and the 5-days medium dose DAST was performed simultaneously in 19 cases of CAH patients. The results indicated that the average suppression rate of testosterone were 77.9% and 91.3% (P<0.001) and the average suppression rate of 17OHP was 95.2% and 97.0%, respectively (P=0.220). In patients (41 cases of CAH, 10 cases of testosterone producing tumor and 20 cases of PCOS) with 1-day DAST, the optimal testosterone suppression rate was 61.2% (the sensitivity and specificity was 87.8% and 96.7%, respectively) and the optimal 17OHP suppression rate was 87.1% (the sensitivity and specificity was 95.1% and 93.3%, respectively) in the identification of CAH and non-CAH cases. There is no clinical significance between the testosterone and 17OHP suppression rate in the differential diagnosis of CAH and non-CAH cases. Conclusions: There was no difference in the suppression rate of 17OHP between the 1-day and 5-days DAST in CAH cases. The sensitivity of suppression rate of 17OHP is equal in the differential diagnosis of hyperandrogenism. One-day approach DAST could be used as functional test for the diagnosis of the etilology of hyperandrogenism (CAH or non-CAH).

Combining remote sensing imagery and forest age inventory for biomass mapping.

Aboveground biomass (AGB) of forests is an important component of the global carbon cycle. In this study, Landsat ETM(+) images and field forest inventory data were used to estimate AGB of forests in Liping County, Guizhou Province, China. Three different vegetation indices, including simple ratio (SR), reduced simple ratio (RSR), and normalized difference vegetation index (NDVI), were calculated from atmospherically corrected ETM(+) reflectance images. A leaf area index (LAI) map was produced from the RSR map using a regression model based on measured LAI and RSR. The LAI map was then used to develop an initial AGB map, from which forest stand age was deduced. Vegetation indices, LAI, and forest stand age were together used to develop AGB estimation models for different forest types through a stepwise regression analysis. Significant predictors of AGB changed with forest types. LAI and NDVI were significant predictors of AGB for Chinese fir (R(2)=0.93). The model using LAI and stand age as predictors explained 94% of the AGB variance for coniferous forests. Stand age captured 79% of the AGB variance for broadleaved forests (R(2)=0.792). AGB of mixed forests was predicted well by LAI and SR (R(2)=0.931). Without differentiating among forest types, the model with SR and LAI as predictors was able to explain 90% of AGB variances of all forests. In Liping County, AGB shows a strong gradient that increases from northeast to southwest. About 64% of the forests have AGB in the range from 90 to 180 t ha(-1).