Objective To assess the application value of sequential non-invasive prenatal testing(NIPT)for pregnant women with abnormal single values of early Down's screening.Methods A total of 1 631 pregnant women with abnormal single values of traditional early Down's screening were selected from Shenzhen Long-hua Maternal and Child Health Hospital from January to October in 2022,and all of them voluntarily under-went NIPT with signed informed consent.The high-risk samples screned by NIPT wre conducted invasive prenatal diagnosis and tracked pregnancy outcomes,and yet low-risk pregnant women was followed up after the due date.Results Among all the pregnant women,a total of 10 high-risk samples of fetal chromosomal aneuploidy were detected by sequential NIPT,including 1 case of trisomy 21,1 case of trisomy 18,7 cases of sex chromosome abnormalities,and 1 case of other autosomal abnormalities.9 cases of high-risk pregnant women received invasive prenatal diagnosis,and 5 cases were consistent with NIPT results,which had yielded a positive predictive value of 55.56％.Among them,the positive predictive values of trisomy 21,trisomy 18,sex chromosome abnormalities and other autosomal abnormalities were 100.00％,100.00％,50.00％,0.00％,resepectively.Conclusion Sequential NIPT could improve the detection of defective children in pregnant women with abnormal single values of early Down's screening,which has certain guiding value for expanding screening to reduce the birth of defective children.In view of its low positive predictive value,pregnant women with abnormal single value of Down's screening should be paid more attention,and further prenatal diagnosis may be necessary to reduce the birth rate of defective children.

Objective:To explore the genetic basis for a child with developmental delay and intellectual deficit (DD/ID).Methods:A child who was admitted to the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City on June 3, 2023 due to DD/ID, craniofacial malformations, and recurrent infections of upper respiratory tract was selected as the study subject. G-banded chromosomal karyotyping was carried out for the child and her parents. Low-depth genome-wide copy number variation sequencing (CNV-seq) and chromosomal microarray analysis (CMA) were used to screen for genome-wide copy number variation (CNV), and fluorescence in situ hybridization (FISH) was used to verify the origin of candidate CNV. This study was approved by the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City(Ethics No. 2023052504). Results:The child, an 8-year-old girl, had featured unexplained growth and intellectual development delay, multiple craniofacial malformations, and recurrent infections of the upper respiratory tract. She was found to have a karyotype of 46, XX, der(6)add(6)(q23), while both of her parents were normal. Both CNV-seq and CMA showed that the child has harbored a 21.38 Mb interstitial duplication at 6p25.3p22.3 and a 0.78 Mb terminal deletion at 6p25. FISH verified that both the duplication and deletion had occurred de novo. Conclusion:The abnormal phenotype of the child may be attributed to the 6p duplication and terminal deletion.

Objective:To investigate the relationship between histone deacetylase (HDAC) gene polymorphism and type 2 diabetes mellitus (T2DM) in Bai and Han populations in Dali of Yunnan province.Methods:A total of 148 patients with T2DM of Bai and Han nationalities who received treatment in Dali Bai Autonomous Prefecture People's Hospital from May 2019 to March 2021 were included in the T2DM group. An additional 100 healthy controls of Bai and Han nationalities who concurrently received physical examination in the same hospital from May 2019 to December 2020 were included in the normal control group. The susceptibility genes of T2DM were detected using the Taqman MGB probe method. The susceptibility gene loci were amplified using polymerase chain reaction. The whole sequence of susceptibility gene was sequenced.Results:There were no significant differences in the distribution frequencies of rs2530223 genotype, rs11741808 genotype, rs2547547 genotype, and rs1741981 genotype between Bai and Han populations (all P > 0.05). There was a significant difference in blood lipid level between four loci ( t = -1.06, -0.19, 0.39, -2.12, -2.04, 0.16, 1.47, < 0.01, -0.16, -3.17, -2.93, 0.69, -2.58, -2.33, all P < 0.05). There was a significant difference in homeostasis model assessment of insulin resistance between different states (all P < 0.05). The frequency distributions of each genotype and each allele did not differ significantly between healthy control people of Bai nationality and T2DM patients of Bai nationality and between healthy control people of Han nationality and T2DM patients of Han nationality (all P > 0.05). Logistic regression analysis showed that the polymorphism was not an independent risk factor for T2DM. Conclusion:The relationships between HDAC gene polymorphism and T2DM, obesity and dyslipidemia differ between Bai and Han populations.

Hyponatremia is common in the attack of acute intermittent porphyria(AIP), which can cause epilepsy, coma and other adverse events and endanger the life of patients. Carbohydrate loading therapy is applied to control the attack of AIP in the clinic. But the application of glucose can exacerbate hyponatremia. It is difficult for clinicians to effectively correct hyponatremia while treating AIP with glucose. We reported a case of AIP whose refractory hyponatremia was corrected with short-term low-dose tolvaptan to improve knowledge in management.

The functional loss of the mismatch repair system is related to the occurrence of colorectal cancer. Some colorectal cancers have mismatch repair defects, however, the methylation of the MLH1 promoter cannot be detected, and germline mutations of the mismatch repair genes are not detected. Because this part of the group is very similar to Lynch syndrome, it is named Lynch-like syndrome. Lynch-like syndrome has certain genetic characteristics, but the pathogenesis has not been fully understood; and it cannot be simply classified as sporadic colorectal cancer or Lynch syndrome, and there is a lack of genetic knowledge and monitoring standards of these patients. This article introduces the progress of Lynch-like syndrome.

The objective was to investigate the effect of kinsenoside (Kin) treatments on macrophage polarity and evaluate the resulting protection of chondrocytes to attenuate osteoarthritis (OA) progression. RAW264.7 macrophages were polarized to M1/M2 subtypes then administered with different concentrations of Kin. The polarization transitions were evaluated with quantitative real-time polymerase chain reaction (qRT-PCR), confocal observation and flow cytometry analysis. The mechanism of Kin repolarizing M1 macrophages was evaluated by Western blot. Further, macrophage conditioned medium (CM) and IL-1 were administered to chondrocytes. Micro-CT scanning and histological observations were conducted on anterior cruciate ligament transection (ACLT) mice with or without Kin treatment. We found that Kin repolarized M1 macrophages to the M2 phenotype. Mechanistically, Kin inhibited the phosphorylation of IB, which further reduced the downstream phosphorylation of P65 in nuclear factor-B (NF-B) signaling. Moreover, Kin inhibited mitogen-activated protein kinases (MAPK) signaling molecules p-JNK, p-ERK and p-P38. Additionally, Kin attenuated macrophage CM and IL-1-induced chondrocyte damage. , Kin reduced the infiltration of M1 macrophages, promoted M2 macrophages in the synovium, inhibited subchondral bone destruction and reduced articular cartilage damage induced by ACLT. All the results indicated that Kin is an effective therapeutic candidate for OA treatment.

Objective To investigate the level of depression on interference suppression function in patients with coronary heart disease (CHD).Methods 15 CHD patients with major depression,21 CHD patients with mild depression and 24 CHD patients without depressive symptoms in the Affiliated Hospital of Weifang Medical University from May 2013 to March 2015 were selected to complete the Emotional Stroop task and record their accuracy and reaction time according to the Self-Rating Depression Scale (SDS) and Classification and Diagnostic Criteria of Mental Disorders in China-Third Edition(CCMD-3).Results ① The reaction time was longer (F(2,57) =71.97,P＜0.01)and the accuracy was lower (F(2,57)=8.78,P=0.04) in CHD with major depression group and CHD with mild depression group compared with CHD group.② The reaction time of negative words ((872.77±348.47) ms,(796.53±200.92)ms) was longer than positive words ((809.22±343.45)ms,(740.85±177.82)ms) in CHD with major depression group and CHD with mild depression group.③ The interference effect of negative words was bigger in CHD with major depression group and CHD with mild depression group ((35.48±181.97)ms,(7.16±200.06)ms) compared with CHD group ((-19.86± 177.82)ms).Conclusion Both CHD patients with major depression and CHD patients with mild depression have deficits in interference inhibition for negative information,which suggests that CHD with depressive individuals have impaired cognitive control function.

Objective:To investigate the value of magnetic resonance cholangiopancreatography(MRCP)in the evaluation on Calot’s triangle adhesion before laparoscopic cholecystectomy(LC).Methods:A total of 254 patients received MRCP before LC,and the type of Calot’s triangle adhesion was evaluated,which included whether or not the cystic duct had been displayed, adjacent relations between the cystic duct and the gallbladder ampulla,and the open position of the cystic duct in the gallbladder ampulla.The type of Calot’s triangle adhesion by preoperative evaluation was compared with that by intraoperative findings. The relation between the type by preoperative evaluation and the difficulty of operation was analyzed.Results:The type of Cal-ot’s triangle adhesion by preoperative MRCP corresponded with that by intraoperative findings.The rabbit tail type of adjacent relation between the cystic duct and the gallbladder ampulla,the cystic duct starting at the middle portion of the gallbladder am-pulla and the absent imaging of cystic duct could indicate difficult LC procedures.Conclusions:MRCP could be used in preoper-ative evaluation on Calot’s triangle adhesion,to predict the difficulty degree of the LC procedure.

Objective To investigate the association between plasma lipoprotein (a) [LP (a)] concentra-tion and in-stent restenosis after coronary stent implantation. Methods 152 patients with successful elective coro-nary stont implantation and percutancous transluminal coronary angioplasty (PICA) undergoing foUow-up angiogra-phy were retrospectively analyzed. These patients were divided into restenosis group( n = 29) and no-restenosis group (n = 123 ). The serum LP (a) levels of all patients were also investigated. The general clinical data were analyzed. Multivariate logistic regression was used for statistical analysis. Results We compared the serum Lap (a) levels, smoking and diabet in the two groups, and there was a statisticaLly significant difference between the restenosis group and no-restenosis group(P<0.05). Multivariate logistic regression showed that the elevation of Lap (a) level re-mained as an independent predictor of restenosis (RR =2. 648,95% CI 1. 066-6. 575,P <0. 05). Other risk fac-tors,such as smoking(P =0.023) ,diabet(P =0. 036) and the type of stent(P = 0.011 ) were also correlated with restenosis. Conclusions High plasma LP (a) concentration is an independent predictor of stent restenosis after stent implantation.

BACKGROUND:The benefit of cell therapy may be partly due to the secretion of angiogenic and antiapoptotic growth factors.Whether amniotic fluid stem cells (AFS) could secrete some growth factors requires further studies.OBJECTIVE:To isolate and culture AFS cells,and explore the angiogenic or antiapoptotic effect of cytokines secreted by AFS on endothelial cells.DESIGN,TIME AND SETTING:A in vitro cytological experiment was performed at the Institute of Hypertensive Disease,First Affiliated Hospital,Nanchang University from December 2008 to June 2009.MATERIALS:Term amniotic fluid of ten samples,50 mL/case,was obtained following caesarean delivery.The umbilical vein was used to isolate endothelial cells.Written informed content was obtained from all women.METHODS:AFS isolated from human amniotic fluid was cultured and digested by trypsin at confluence of 80%.The third passage of cells at a density of 5×10~8/L were divided into two groups:hypoxia group:the cells were cultured in 2% O_2 + 5% CO_2 +93% N_2;normal group:the cells were cultured in 5% CO_2 + 95% air.Two groups were cultured at 37 ℃ for 24 hours.The supematant of two groups was collected.The second passage of human umbilical vein endothelial cells cultured in vitro was collected and seeded onto 12-well culture plate at a density of 2×10~4 cells/well,and divided into 3 groups:control group was cultured in 2 mL EBM-2 containing 5% fetal bovine serum (FBS);normal group was cultured in 1 mL EBM-2 containing 5% FBS and 1 mL AFS cell culture solution;hypoxia group was cultured in 1 mL EBM-2 containing 5% FBS and 1 mL hypoxia AFS cell culture solution for 3 days,followed by incubation with 10 μg/L tumor necrosis factor (TNF)-α.MAIN OUTCOME MEASURES:AFS surface phenotype was examined by flow cytometry;the secretion level and mRNA expression of vascular endothelial cell growth factor (VEGF) and hepatocyte growth factor (HGF) were examined by ELISA or RT-PCR.The proliferation and apoptotic rates of endothelial cells were examined.RESULTS:AFS cells were long fusiform-shaped and arranged radially after 7 days of culture.The third passage of AFS cells expressed CD29 and CD105 while did not express CD34.AFS cells of normal culture secreted VEGF and HGF;AFS cells of hypoxia condition significantly increased secrete of VEGF (P＜0.01),and VEGF mRNA expression was significantly upregulated (P＜0.05),while HGF and mRNA expression remained unchanged (P＞0.05).Compared with control group,the number of endothelial cells was significantly increased in normal and hypoxia AFS cell groups after 3 days of culture (P＜0.05).After cocultured with TNF-α for 24 hours,the apoptosis rates of endothelial cells in AFS-conditioned medium was significantly decreased (P ＜ 0.05),and the change degree of hypoxia AFS cell group was greater than normal AFS cell group (P ＜ 0.05).CONCLUSION:AFS can secrete cytokines such as VEGF and HGF.Moreover,it significantly promotes endothelial cells proliferation and inhibits apoptosis.Under hypoxia condition,the secretion of VEGF from AFS cells is increased,and the effects on endothelial cells proliferation and apeptosis are enhanced.