Objective To study the the effect of national free pre-pregnancy health check policy from the view of clinical labora-tory.Methods Couples who accepted pre-pregnancy check were recruited in the study.720 people were recruited.The data of pre-pregnancy health examination and related questionnaire were analyzed.Results In females,the IgG positive rates of rubella virus, cytomegalovirus and Toxoplasma were 80.34%,3.78% and 87.51%,respectively.IgM positive rates of Toxoplasma and cytomeg-alovirus were 0.73% and 1.24% respectively.17.98% females were found suffering from gynecological inflammation or ovarian cysts and other gynecological diseases.Syphilis test showed males positive rate was 0.83%,female positive rate was 0.59%.Ala-nine aminotransferase(ALT)test showed that male positive rate was 13.22%,female was 5.71%.For cognitive health examination surveys,92.33% males and 96.27% females had well known the importance of pre-pregnancy health examination.Conclusion Free pre-pregnancy health examination policy could provide a guarantee for the couple's family planning,and could reduce the incidence of malformation and neonatal congenital disease.

Background and purpose:Esophageal carcinoma is one of main malignancies with rapid course and a poor prognosis in China. The reasons of poor overall survival are the invasion and metastasis of the tumor. Matrix metalloproteinase (MMPs) play essential roles in promoting tumor invasion and metastasis. In this study, we aimed to investigate the expression and functional signiifcance of matrix metalloproteinase 16(MMP-16) in esophageal squamous cell carcinoma (ESCC). We expect to ifnd a lead molecule for the beneift of early detecting tumor and the development of novel treatment of ESCC. Methods:The expression levels of MMP-16 protein and mRNA in human ESCC and the matched normal tissues were determined by immunohistochemistry, Western blot and Real-Time PCR (RT-PCR). The stable Ec109 cell line with MMP-16 knockdown and negative controls were established by RNA interference technology. The cell migration, invasion, proliferation and cell apoptosis of MMP-16 in stable interfered Ec109 cell line was examined by cell counting, scratch test, Transwell test and lfow cytometry assays. The data were analyzed by t test. Results:MMP-16 protein was downregulated in cancerous group compared with the matched normal tissue and correlated with the clinical features of histological differentiation (P<0.05) and tumor stage (P<0.05). The levels of MMP-16 mRNA and protein in Ec109 were signiifcantly decreased by RNA intetrence (P<0.05). We demonstrated that MMP-16 silencing signiifcantly promoted cell invasion and migration (P<0.05), and inhibited cell apoptosis (P<0.05), while no significant effect was observed on cell proliferation (P>0.05). Conclusion: MMP-16 is downregulated in human ESCC tissues. The cell migration and invasion is promoted by interference of MMP-16 in Ec109, while the cell apoptosis is inhibited. MMP-16 may be considered as a target gene for therapy of ESCC.

OBJECTIVE: To observe the effect of lidocaine on respiratory failure and the airway peak pressure in patients with severe asthma. METHODS: The severe bronchial asthma patients treated with mechanical ventilation were randomly divided into treatment group and control group. The change in airway peak pressure, man-machine counteraction, and the correcting time of respiratory failure of the two groups were recorded. RESULTS: The average airway peak pressure was(41.18?10.66) cmH2O in the control group vs.(29.23?9.07) cmH2O in the treatment group; the incidence of man-machine counteraction was 100% for the control group vs. only 40% for the treatment group; the correcting time of respiratory failure was(6.42?1.73) h for the control group vs.(3.31?1.08) h for the treatment group. There were significant differences between the two groups in the above mentioned indexes(P

Aim To examine the effect of Nampt over-expression on cardiac hypertrophy,and elucidate the role of NF-κB.Methods The cultured neonatal car-diomyocytes were pretreated with 100 μmol · L-1 PE or transfected with Nampt.The mRNA and protein ex-pression of Nampt were determined by Real-time PCR and Western blot respectively.The cardiomyocyte hy-pertrophy was monitored by measuring cell-surface area and the mRNA levels of ANP and BNP,which were biomarkers of hypertrophic response.Moreover,we te-sted the effects of Nampt on NF-κB-dependent tran-scription activity through luciferase reporter gene as-says.Results Nampt overexpression significantly in-creased cardiomyocyte surface area and the mRNA ex-pression of ANP and BNP.In addition,Nampt overex-pression could markedly increase NF-κB-dependent transcription activity. Moreover, when p65 was knocked down,cardiomyocytes with Nampt overexpres-sion could not induce cardiac hypertrophy.Conclusion
Overexpression of Nampt induces cardiac hypertro-phy by increasing NF-κB-dependent transcription activ-ity.

Objective:To evaluate the intrauterine transmission of syphilis in Nantong City, Jiangsu Province from 2012 to 2019, after the introduction of a nationwide policy for preventing intrauterine transmission of syphilis in China in 2011.Methods:This study enrolled all live birth deliveries ( n=455 561) in Nantong from January 2012 to December 2019. The screening, infection rates, anti-syphilis treatment, intrauterine transmission of syphilis, and outcomes of infants with congenital syphilis were retrospectively analyzed using χ 2 test for trend, adjusted χ 2 test, or Fisher's exact test. Results:Except for three women, the remaining 455 558 subjects were all screened for syphilis antibody with a total screening rate of nearly 100%, among which prenatal screening accounted for 96.4% (439 125/455 561) and intrapartum screening for 3.6% (16 433/455 561). In total, 796 (0.17%) women were diagnosed with syphilis during pregnancy, and the prevalence increased from 0.13% (85/64 229) in 2012 to 0.24% (110/45 517) in 2019 (χ 2trend=48.985, P<0.001). The prevalence among women underwent intrapartum screening was significantly higher than those underwent prenatal screening [0.50% (82/16 433) vs 0.16% (714/439 125), χ 2=102.769, P<0.001]. Out of the women with syphilis, 716 (89.9%) received anti-syphilis therapy with 695 cases using penicillin, 16 cases using ceftriaxone and five using erythromycin/azithromycin, while the remaining 80 (10.1%) did not. Intrauterine transmission of syphilis occurred in 14 infants with a transmission rate of 1.8% (14/796). The reported rate of congenital syphilis in all live infants was 0.03‰ (14/460 552). The intrauterine transmission rate in women receiving treatment during pregnancy was significantly lower than that in the untreated women [0.4% (3/716) vs 13.8% (11/80), χ2=66.499, P<0.001]. For the untreated women, the intrauterine transmission rate increased with the rising titers of non-specific syphilis antibody ( χ2trend=5.338, P=0.021). Among infants with congenital syphilis, no obvious adverse outcomes occurred in three infants born to treated mothers, whereas the rates of preterm birth and neonatal death were 7/11 and 2/11 in those born to untreated mothers. Conclusions:Since the implementation of the policy against intrauterine transmission of syphilis, the reported rate of congenital syphilis is 3/100 000 live-birth in Nantong City, reaching the national target of below 15/100 000. Screening and treatment in the first trimester are critical for preventing intrauterine transmission of syphilis. Increased prenatal syphilis screening rate can help further reduction of the intrauterine transmission of syphilis.

Objective: To explore the association between methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms and toxicity of Methotrexate(MTX) chemotherapy in pediatric acute lymphoblastic leukemia (ALL). Methods: From January 2015 to June 2018, 128 pediatric patients with ALL in southern Fujian who were admitted at the First Affiliated Hospital of Xiamen University were selected.Their peripheral blood 2 mL was collected and genomic DNA was extracted.The MTHFR genotype was detected by polymerase chain reaction(PCR) direct sequencing method, and the clinical significance of HD-MTX on ALL children with toxic and side effects was evaluated according to the National Cancer Institute-Common Toxicity Criteria. Results: Among 128 children, 54 cases(42.2%) presented rash, 48 cases (37.5%)with mucosal lesions, 51 cases (39.8%) with liver function damage, 23 cases (18.0%) with renal function damage, 52 cases (40.6%) with gastrointestinal reactions, 38 cases (29.7%)with leukopenia, 34 cases (26.6%) with thrombocytopenia and 63 cases (49.2%) with hemoglobin reduction.There was no significant difference in the incidence of MTX adverse reactions (rash, mucosa lesions, liver and renal function damage, gastrointestinal reaction, leukopenia, hemoglobin decrease and thrombocytopenia) between the MTHFR C677T and A1298C polymorphisms (all P>0.05). The different clinical risk (MTX dose) of the children was not statistically signi-ficant in the MTHFR C677T and A1298C genotypes and allele frequencies (χ²=2.573, 2.264, 1.615, 0.267; all P>0.05). There was no significant difference among the abnormal incidence of MTX at 24 h, 48 h and 72 h (all P>0.05). Conclusions MTHFR C677T and A1298C polymorphisms do not seem to be good markers of MTX-related toxicity and/or outcome in pediatric ALL in southern Fujian, and its clinical application still needs further discussion.

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome. METHODS: The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out. RESULTS: The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved. CONCLUSION The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.
DNA Copy Number Variations ; Hearing Loss, Sensorineural/genetics* ; Humans ; Hypoparathyroidism/genetics* ; Infant, Newborn ; Kidney/abnormalities* ; Male ; Syndrome ; Urogenital Abnormalities/genetics*

Objective:To investigate the influence of maternal autoimmune diseases and anticoagulants, including low-molecular-weight heparin (LMWH) and aspirin, on the fetal fraction of maternal plasma cell-free DNA of non-invasive prenatal testing (NIPT).Methods:A prospective cohort study was conducted on women with singleton pregnancies receiving NIPT in the Nanjing Drum Tower Hospital from March 2021 to July 2022. NIPT was carried out using a polymerase chain reaction (PCR)-free amplification platform. In this study, four types of maternal autoimmune diseases, which were antiphospholipid syndrome, undifferentiated connective tissue disease, Sj?gren's syndrome, and systemic lupus erythematosus (SLE), and two anticoagulants, LMWH and aspirin, were studied. Univariate and multivariate linear regression models were used to analyze the factors influencing fetal fraction of maternal plasma cell-free DNA.Results:A total of 4 102 singleton pregnant women were enrolled in the prospective cohort, and 3 948 were finally included after excluding the cases with unclear dosing time of LMWH or aspirin, other autoimmune diseases, conceiving through ovulation induction alone, and having true positive or failed NIPT result. There were 96 cases with antiphospholipid syndrome, 35 with undifferentiated connective tissue disease, 34 with Sj?gren's syndrome, and 18 with SLE. A total of 108 patients only received LMWH treatment, 121 only received aspirin treatment, and 113 received both LMWH and aspirin treatment. Univariate linear regression analysis showed that maternal body mass index at blood collection ( B=－0.423), conceived by assisted reproductive technology ( B=－0.803), male fetus ( B=－0.458), undifferentiated connective tissue disease ( B=1.774), and SLE ( B=3.467) had influence on the fetal fraction (all P<0.05). Multivariate linear regression analysis showed that maternal body mass index at blood collection ( B=－0.415), conceived by assisted reproductive technology ( B=－0.585), male fetus ( B=－0.322), SLE ( B=3.347) and undifferentiated connective tissue disease ( B=1.336) were factors influencing fetal fraction (all P<0.05). Conclusions:Maternal use of LMWH or aspirin does not affect fetal fraction when performing NIPT on a PCR-free amplification platform, but undifferentiated connective tissue disease and SLE are the influencing factors. Therefore, pregnant women should be informed before the NIPT that the fetal fraction of maternal plasma cell-free DNA may be affected by maternal autoimmune diseases.

Numerous studies on cancers, biopharmaceuticals, and clinical trials have necessitated comprehensive and precise analysis of protein O-glycosylation. However, the lack of updated and convenient databases deters the storage of and reference to emerging O-glycoprotein data. To resolve this issue, an O-glycoprotein repository named OGP was established in this work. It was constructed with a collection of O-glycoprotein data from different sources. OGP contains 9354 O-glycosylation sites and 11,633 site-specific O-glycans mapping to 2133 O-glycoproteins, and it is the largest O-glycoprotein repository thus far. Based on the recorded O-glycosylation sites, an O-glycosylation site prediction tool was developed. Moreover, an OGP-based website is already available (http://www.oglyp.org/). The website comprises four specially designed and user-friendly modules:statistical analysis, database search, site prediction, and data submission. The first version of OGP repository and the website allow users to obtain various O-glycoprotein-related information, such as protein accession Nos., O-glycosylation sites, O-glycopeptide sequences, site-specific O-glycan structures, experimental methods, and potential O-glycosylation sites. O-glycosylation data mining can be performed efficiently on this website, which will greatly facilitate related studies. In addition, the database is accessible from OGP website (http://www.oglyp.org/download.php).