Objective To study the ultrasonic features and outcomes of VACTERL association fetuses. Methods From Jan 2003 to Sep 2013 in Shenzhen Maternity&Child Healthcare Hospital there were 55 fetuses diagnosed as VACTERL association, the prenatal ultrasonographic characteristics and outcomes were summarized. Results Ultrasonography showed that the incidence of 6 VACTERL association anomalies were:vertebral defects were 45.5%(25/55), anal atresia were 30.9%(46/55), cardiac malformations were 81.8%(45/55), tracheoesophageal ifstula/esophageal atresia were 32.7%(18/55), renal anomalies were 60.0%(33/55) and limb anomalies were 83.6%(17/55). All the 55 fetuses had 3 or more VACTERL association malformations and the characteristic ultrasonic features were as follows:(1) There were 39 cases (70.9%, 39/55) co-occur with three VACTERL malformations, the more common malformations were limb anomalies (33/39), cardiac malformations (31/39) and renal anomalies (21/39). (2) There were 13 cases (23.6%, 13/55) co-occur with four VACTERL malformations, the more common malformations were cardiac malformations (11/13), limb anomalies(10/13), renal anomalies (9/13) and tracheoesophageal ifstula/esophageal (8/13). (3) There were 3 cases (5.5%, 3/55) co-occur with ifve VACTERL malformations, they were all with anal atresia, cardiac malformations, renal anomalies and limb anomalies (3/3), and two were co-occur with vertebral defects (2/3). (4) No fetus co-occur with six VACTERL malformations. There were 29 cases (52.7%, 29/55) co-occur with other malformations, of which 21 cases (38.2%, 21/55) with single umbilical artery. All the 55 cases underwent labor induction. The results of postmortem appearance of 55 cases and autopsies of 9 cases were all consistent with prenatal ultrasound scan. Conclusions Fetuses with VACTERL association had characteristic prenatal ultrasound imaging, multiple malformations can be found and limb anomalies, cardiac malformations and renal anomalies are more common. Scanning the fetal structures from higher incidence to lower incidence of VACTERL association can be helpful to improve the diagnostic coincidence rate of VACTERL association. Prenatal ultrasound diagnosis of VACTERL association can provide guidance for clinical obstetrical management.

Objective To establish the normal reference ranges of transabdominal ultrasound measurements of the posterior fossa structure in fetuses at 11 to 13+6 gestational weeks and explore their clinical value in screening open spina bifida (OSB). Methods Between January, 2013 and September, 541 randomly selected normal fetuses underwent nuchal translucency at the gestational age 11 to 13+6 weeks. The parameters of the posterior fossa were measured in mid-sagittal view of the fetal face and the axial view of the transverse cerebellum insonated through the anterior fontanel by transabdominal ultrasound to establish the normal reference ranges. The measurements were obtained from 3 fetuses with OSB for comparison with the reference ranges. Results In normal fetuses, the parameters of the posterior fossa measured in the two views showed no significant differences (P>0.05). Two high echogenic lines were observed in normal fetuses, as compared with one in fetuses with OSB representing the posterior border of the brain stem and the anterior border of the fourth ventricle. The line between the posterior border of the fourth ventricle and the anterior border of the cisterna magna was not displayed in fetuses with OSB. The anteroposterior diameters of the brain stem, the fourth ventricle, and cisterna magna all increased in positive correlation with the crown-lump length in normal fetuses. In the 3 OSB fetuses, the anteroposterior diameter of the brain stem exceeded the 95th percentile and the anteroposterior diameter of fourth ventrical-cisterner magena was below the 5th percentile of the reference range for CRL;the brain stem to fourth ventrical-cisterner magena anteroposterior diameter ratio was increased to above 1. Conclusion The established normal reference ranges of the parameters of fetal posterior fossa may provide assistance in early OSB detection. The absence of the posterior border of the fourth ventricle and the anterior border of the cisterna magna and a brainstem to fourth ventrical-cisterner magena anteroposterior diameter ratio greater than 1 can be indicative of OSB at 11 to 13+6 gestational weeks.

Objective To establish the normal reference ranges of transabdominal ultrasound measurements of the posterior fossa structure in fetuses at 11 to 13+6 gestational weeks and explore their clinical value in screening open spina bifida (OSB). Methods Between January, 2013 and September, 541 randomly selected normal fetuses underwent nuchal translucency at the gestational age 11 to 13+6 weeks. The parameters of the posterior fossa were measured in mid-sagittal view of the fetal face and the axial view of the transverse cerebellum insonated through the anterior fontanel by transabdominal ultrasound to establish the normal reference ranges. The measurements were obtained from 3 fetuses with OSB for comparison with the reference ranges. Results In normal fetuses, the parameters of the posterior fossa measured in the two views showed no significant differences (P>0.05). Two high echogenic lines were observed in normal fetuses, as compared with one in fetuses with OSB representing the posterior border of the brain stem and the anterior border of the fourth ventricle. The line between the posterior border of the fourth ventricle and the anterior border of the cisterna magna was not displayed in fetuses with OSB. The anteroposterior diameters of the brain stem, the fourth ventricle, and cisterna magna all increased in positive correlation with the crown-lump length in normal fetuses. In the 3 OSB fetuses, the anteroposterior diameter of the brain stem exceeded the 95th percentile and the anteroposterior diameter of fourth ventrical-cisterner magena was below the 5th percentile of the reference range for CRL;the brain stem to fourth ventrical-cisterner magena anteroposterior diameter ratio was increased to above 1. Conclusion The established normal reference ranges of the parameters of fetal posterior fossa may provide assistance in early OSB detection. The absence of the posterior border of the fourth ventricle and the anterior border of the cisterna magna and a brainstem to fourth ventrical-cisterner magena anteroposterior diameter ratio greater than 1 can be indicative of OSB at 11 to 13+6 gestational weeks.

Objective:To explore the gene microarray of patients with ankylosing spondylitis in GEO database by using various bioinformatics methods, and to explore the possible targets and mechanisms of action.Methods:The GEO database was searched with "ankylosing spondylitis" the keyword, and the expression profile of genes related to AS was selected as the research object. Standard difference analysis, weighted co-expression analysis and gene set enrichment analysis were conducted to construct the disease set. GO and KEGG enrichment analysis were performed on the disease sets. The NCC algorithm identifies the first five key genes. THP-1 cells were implanted into RPMI-1640 culture medium containing 10% fetal bovine serum to multiply and construct the cell model of AS in vitro. The expression levels of 5 key genes were detected by qRT-PCR and Western blot. The experimental measurement data were expressed as mean± standard deviation, and the t test was used in comparison between the two groups. Results:One thousand six hundred and sixty seven disease genes were analyzed, functional annotation was mainly concentrated in 689 molecular components of cytoplasmic ribosomes, ribosomal subunits, ribosomes, cytoplasmic large ribosomal subunits, the structural composition of ribosomal REDOX enzyme activity, 1 002 molecular functions of NADH dehydrogenase activity, NADH dehydrogenase activity, and 5 764 molecular processes of mRNA catabolism and RNA catabolism The physical process involved 1 002 signaling pathways involved in Alzheimer′s disease, Prion disease, Parkinson′s disease, and the first 5 key genes were identified as RPS11, RPL4, RPL37A, RPS23, and RPS9. The experimental results were obtained by t test. The results showed that TNF-α mRNA ( t=5.59, P=0.001) and protein ( t=20.14, P<0.001) were significantly increased, indicating that LPS had induced inflammatory response in THP-1 cells, while RPL37AmRNA ( t=5.87, P=0.001), RPS11 mRNA ( t=3.88, P=0.008), RPS23 mRNA ( t=2.64, P=0.038), RPL37A protein ( t=3.18, P=0.030), RPS11 protein ( t=11.26, P<0.001), RPS23 protein ( t=5.64, P<0.001), increased, while RPS9 mRNA ( t=3.16, P=0.020), RPL4 mRNA ( t=2.54, P=0.044), RPS9 protein ( t=5.85, P<0.001) and RPL4 ( t=2.93, P=0.040) protein expressions decreased. RPL23 stimulated the joint synovial tissue to produce effect-T lymphocytes and release a large number of IL-2 and other inflammatory cytokines. RPS9 acts on the early stages of ribosomogenesis, and knocking down RPS9 reduced overall protein synthesis. RPL4 interacted with TTC22 protein to enhance the binding of WTAP mRNA to RPL4, which was associated with immune diseases. The nucleoprotein OGFOD1 catalyzed the hydroxylation of RPS23 and participated in the inflammatory process. The chromosome conformation confirmed the single nucleotide polymorphism function of IL23R genomic locus in AS disease. Conclusion:Ribosomal protein may be an important target for exploring the mechanism of AS inflammation.