Objective:To construct of transfectant cells expressing ??TCR with specific CDR3 sequence.Methods:Specific CDR3 region sequence of DBS4.3,a known ??T cell clone,was inserted into ?9 and ?2 chain to substitute original CDR3 sequence using overlapping PCR method.After the full-length ?9 and ?2 chains were ligated with expression vector pREP7and pREP9 respectively,they were co-trasfected into a cell line of human Jurkat cells with TCR ? chain gene-defective mutant J.RT3-T3.5.When the transfectant cells expressing specific ??TCR were stimulated by antigen,production of IL-2 was detected by ELISA and Realtime PCR.Results:By ELISA and Realtime PCR,it was exhibited that the transfectant cells expressing DBS4.3 specific ??TCR secreted IL-2 under stimulation of iso-butylamine and anti ??TCR antibody.Conclusion:The transfectant Jurkat cells expressing ??TCR with specific CDR3 sequence are successfully constructed.It provides a platform for the research of recognition mechanism of ??TCR.

[Summary] Cytochrome P450 oxidoreductase deficiency ( PORD) is a rare disease, which is a subtype of congenital adrenal hyperplasia. The predominant signs include no puberty development, infantile reproductive organs, ear deformities, and bone synostosis in skull or limbs. Here, we analyzed the clinical features of a case with PORD confirmed by gene sequencing. The pathology, genetic features, clinical manifestations, diagnosis and treatment for PORD were reviewed.

[Summary] Eighteen patients with idiopathic hypogonadotropic hypogonadism( IHH) receiving aromatase-inhibitor( AI) letrozole for at least 3 months were recruited.After 3 months′treatment, LH levels were increased from (2.1 ±1.5) IU/L to (3.6 ±3.7) IU/L(P=0.029), and FSH levels from (2.6 ±1.8) IU/L to (4.3 ±3.4) IU/L (P=0.003).Total testosterol was increased from (87 ±42) ng/dl to (166 ±200) ng/dl(P=0.082), and estradiol wasdecreasedfrom(22.7±18.7) pg/ml to (13.4±10.6) pg/ml(P=0.020).The average testis volume was increased[(14.3 ±3.9 vs 11.2 ±4.9) ml, P<0.01].Sperms were detected in 8 out of 9 patients who did seminal fluid test.The result of general linear model showed that LH(60 min) was significantly related with total testosterol increment( P=0.045) .

Objective To explore the relationship between SNPs in microRNA binding sites of ABCG5/8 and the glucolipid level during pregnancy.Methods 1 925 pregnant women were recruited at Peking Union Medical College hospital from 2006 to 2011.The clinical data were collected and the total genomic DNA was extracted from whole blood samples.ABCG5/8, which was reported to be related with the glucose and lipid metabolism closely, were selected as the candidate gene and the SNPs in its microRNA binding sites with minor allele frequency >5% in Han Chinese in Beijing were chosen.Then the genotyping was performed and analyzed.Results There was only one SNP matching the criteria, rs2278356, and it is significantly associated with LDL-C and TC level during pregnancy (LDL-C: b=0.104 mmol/L, 95% CI 0.023-0.185 mmol/L, P<0.05;TC: b=0.105 mmol/L, 95% CI 0.080-0.203 mmol/L, P<0.05).Conclusions The association of rs2278356 in 3′UTR of ABCG5/8 with LDL-C and TC level in pregnant Chinese Han women is found, which may provide an individualized treatment strategy for pregnant women with high cholesterol.

OBJECTIVETo analyze 81 spontaneous abortion samples with fluorescence in situ hybridization (FISH).

METHODSChromosome 13, 21, 16, 22, 18, X and Y probes were used to detect the samples.

RESULTSFISH was successful in 80 cases (98.77%). Among these, 35 (43.75%) had an abnormal karyotype, which included 19 autosomal aneuploidies, 6 sex chromosome aneuploidies, 9 triploidies and 1 tetraploidy.

CONCLUSIONFISH is a rapid and easy method for detecting chromosomal aneuploidies in spontaneous abortion samples, and has a higher detection rate in early spontaneous abortion samples.

Abortion, Spontaneous ; diagnosis ; genetics ; Adult ; Aneuploidy ; Chromosome Aberrations ; Chromosomes, Mammalian ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Pregnancy ; Prenatal Diagnosis ; Young Adult

Mammalian reproduction is closely related to their metabolic status. The hypothalamus-pituitary-gonad axis ( HPG axis) is regulated by various metabolic factors. Glucagon-like peptide-1 ( GLP-1) is one of various metabolic factors that not only affect glycemic and metabolic control, but also with many other effects, including affecting HPA axis. The function of GLP-1 is related to the location of glucagon-like peptide-1 receptor ( GLP-1R) distribution. It has been confirmed that GLP-1R is widely distributed in HPG axis. The effects of GLP-1 and GLP-1R agonists on the HPG axis have also attracted much attention. The positive effects of GLP-1 and GLP-1R agonists on the HPG axis indicated it could be the new target for the new treatment for gonadal diseases. The role of GLP-1 and GLP-1R agonists in the central nervous system is reviewed.

Objective: To investigate the status and influencing factors of health literacy of middle school students in Yinchuan City, to provide reference for health literacy improvement of middle school students in this region. Methods: Using stratified cluster sampling method, 2 003 middle school students from three districts of Yinchuan were investigated to complete the questionnaire survey.The survey included basic characteristics, health literacy and screen time status. Results: The total score of Chinese Adolescent Interactive Health Literacy Questionnaire was(101.3±17.5). The proportion of high, medium and low level of health literacy were 25.0%, 51.2% and 23.9% respectively;the proportion of long screen time exposure among middle school students was 52.5%. The health literacy level of junior middle school students, middle school students with father or mother education level of high school or above and appropriate screen time were higher than those of the corresponding group（χ 2=49.90，14.59，16.53，46.73，P<0.01）. Logistic regression analysis showed that education group, grade, father s or mother s education level and long screen time exposure were associated with middle school students health literacy level(P<0.05). Conclusion The health literacy level of middle school students in Yinchuan City needs to be further improved and targeted health education should be carried out from school, family and society.

OBJECTIVE: To carry out G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA) for a fetus featuring multiple malformations. METHODS: The fetus was found to have increased nuchal thickness, generalized edema, asymmetric lower limbs, tetralogy of Fallot, nasal bone anomaly and cleft palate. Following amniocentesis, G-band karyotyping and CMA were carried out. RESULTS: The fetus had a karyotype of 47,XX,+i(12)(p10) [14]/46,XX[6]. CMA has identified a 33.9 Mb duplication at 12p13.33-p11.1, which was suggestive of tetrasomy 12p. CONCLUSION Combined chromosomal karyotyping and CMA can delineate the origin of abnormal chromosomal fragments during prenatal diagnosis. The fetus was diagnosed with Pallister-Killian syndrome.

OBJECTIVE: To evaluate the feasibility of non-invasive prenatal testing (NIPT) for the screening of fetal chromosome aneuploidies in twin pregnancies. METHODS: A total of 2 745 women with twin-pregnancies were subjected for NIPT screening. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried out on amniotic fluid samples from those with a high risk for fetal chromosome aneuploidies, and the diagnosis and pregnancy outcome were followed up. The sensitivity, specificity, positive predictive value and false positive rate of the NIPT were calculated. RESULTS: Compared with other chromosomal abnormalities, NIPT had a higher efficacy for trisomy 21 and sex chromosomal aneuploidy (SCA) in twin pregnancies (with sensitivity being 100%, 100%, and specificity being 99.93%, 99.9%, respectively). It is difficult to evaluate the efficacy for trisomies 18 and 13 due to the limited data. For chromosome microdeletions and microduplications spanning 15 ~ 21 Mb, NIPT also had a certain detection rate. Compared with women with natural conception, NIPT had a higher detection rate for those with twin pregnancies by assisted reproduction (P < 0.05). CONCLUSION It is feasible to use NIPT for the detection of chromosome aneuploidies in women with twin pregnancies.
Pregnancy ; Female ; Humans ; Pregnancy, Twin ; Prenatal Diagnosis ; Down Syndrome/genetics* ; Chromosome Aberrations ; Aneuploidy ; Trisomy 18 Syndrome/genetics* ; Trisomy

Objective:To construct and validate a prediction model for the risk of intermediate cesarean delivery for primiparous women with failed vaginal trial of labor.Methods:Clinical data of 6 128 pregnant women who gave birth in the Affiliated Hospital of Jining Medical College from January 2019 to December 2020 were collected. The puerpera was randomly divided into train set ( n=4 290) and validation set ( n=1 838). The factors influencing the conversion to cesarean section in primiparous women with failed vaginal trial of labor were analyzed with univariate and binary multivariate logistic regression, and a risk prediction model was established based on the influencing factors. The predictive power of the model was assessed by receiver operating characteristic (ROC) curve and the Hosmer-Lemeshow goodness-of-fit test in train set and validation set. Results:Among 6 128 pregnant women 1 042 cases failed in vaginal trial of labor and were transferred to cesarean section. Univariate analysis showed age, occupation, gestational weight gain, days of gestation, body temperature before delivery, fetal heart condition at delivery, fetal abdominal circumference, Bishop score, premature rupture of membranes, gestational illness, mode of induction of labor, labor analgesia, and fetal orientation were significantly associated with converting to cesarean delivery (all P<0.05). The multivariate binary logistic regression analysis showed that the age, gestational weight gain, body temperature, gestational co-morbidities, days of gestation, premature rupture of membranes, amniotic fluid contamination, induction of labor, and abnormal occipital position were independent risk factors for intermediate cesarean delivery ( OR=1.03-8.06, all P<0.05); while height, occupation, Bishop score, and labor analgesia were protective factors for intermediate cesarean delivery ( OR=0.17-0.96, all P<0.05). A risk prediction model was constructed based on the risk factors and protective factors. In train set, the area under the ROC curve(AUC) of the model was 0.902 (95% CI: 0.89-0.92, P<0.001), with the best cutoff value of 0.138, the sensitivity and specificity were 0.837 and 0.825, respectively; and the Hosmer-Lemeshow goodness-of-fit test showed P=0.192. In validation set the AUC of the model was 0.917 (95% CI: 0.90-0.93, P<0.001), and the sensitivity and specificity were 0.826 and 0.851, respectively; the total correct rate of the model was 87.21% (1 603/1 838). Conclusion:The risk prediction model of failed vaginal trial of labor in primiparous women for intermediate cesarean delivery constructed in this study has good clinical prediction efficacy and high correctness rate.