Objective:To examine the distribution of syphilis antibody in pregnant women and newborns and to explore how to optimize the existing syphilis screening process by setting the diagnostic gray area.Methods:The results of syphilis testing obtained from 119 531 pregnant women and 21 275 newborns from 2015 to 2018 by automatic chemiluminescent immunoassay (CLIA) and the re-examination results determined by Treponema pallidum particle agglutination (TPPA) and the rapid plasma reagin test (RPR) were retrospective analyzed. Data analysis was performed by Chi-square, Fisher′s exact test and Chi-square test for trend. Results:The positive rates of Syphilis specific antibody (TPAb) in clinical specimens from pregnant women and newborns were 0.69% (825/119 531) and 1.24%(264/21 275). The total re-examination positive rates were 0.32% (380/119 531) and 0.90%(191/21 275), and the suspicious syphilis prevalence rates in these specimens were 0.13% (161/119 531) and 0.31%(67/21 275), respectively. The suspicious syphilis prevalence rates in specimens of pregnant women from 2015 to 2018 and newborns increased year by year (χ 2=9.860, P=0.002; χ 2=5.311, P=0.021). With the elevation of the optical density value of samples to cut-off ratio (S/CO) value, positive coincidence rate of TPPA and TPAb in pregnant women and newborns increased significantly (χ 2=614.833, P<0.001; P<0.001). When the S/CO value in newborns exceeded 7.00 or the S/CO value in pregnant women exceeded 15.00, the effectiveness of TPAb results is equivalent to TPPA. The prevalence of suspected syphilis in pregnant women and newborns also increased with the increase of S/CO value (χ 2=323.059, P<0.001; P<0.001). When the S/CO value in newborns bellowed 3.00 or the S/CO value in pregnant women bellowed 5.00, the prevalence rate of suspected syphilis was 0%, which could preliminarily exclude syphilis infection. Conclusions:The prevalence rates of suspected syphilis in pregnant women was increasing during the recent years. It is necessary to further strengthen syphilis screening and intervention treatment in early pregnancy to improve the rate of eugenics. Being a primary screening method for syphilis in pregnant women and newborns, CLIA has high false positive rate. According to the gray area established in this study, the syphilis screening process can be optimized to prevent missed detection, which may reduce the false positive rate and avoid clinical misdiagnosis.

Objective To investigate the molecular genetic characteristics and clinical characteristics of severe combined immunodeficiency(SCID)in children caused by a novel mutation of interleukin 2 receptor gamma IL-2RG gene.Methods The clinical data,laboratory results and genetic testing data of a child with SCID admitted to the Department of Children's Hematology of Northwest Women and Children's Hospital were analyzed.Results A two-month-old male infant was admitted to the hospital for treatment due to recurrent infections after birth.The child's blood routine results showed that the total number of white blood cells was normal,but lymphocytes were decreased.The lymphocyte subpopulation results showed a significant decrease in the proportion of total T(CD3+),helper T(CD3+CD4+),killer T(CD3+CD8+),and NK(CD3-CD16+CD56+)lymphocytes,while the proportion of B(CD3-CD19+)lymphocytes were increased.The immunoglobulin levels showed a significant decrease in IgG,and IgM and IgA were below the lower detection limit.The patient's cytokine levels did not significantly increase during infection.In the last three generations of the mother's family,9 males died of infection within one year after birth.The whole exome sequencing results of the core family revealed a semi zygous new missense mutation[c.675 C＞A,p.S225R(p.Ser225Arg)]in the IL-2RG gene on the X chromosome(chrX:70329160)of the patient,and the mother was a carrier.Based on the above evidence,the child was diagnosed with X-SCID.Subsequently,intravenous immunoglobulin was injected monthly,and routine antibiotics and antiviral drugs were taken to prevent infection,preparing for hematopoietic stem cell transplantation.Because the child was vaccinated with BCG after birth,the child developed disseminated BCG disease at the age of 6 months.After treatment,hematopoietic stem cell transplantation was performed.Conclusion The immune function of the X-SCID patient was severely compromised,which endangered the patient's life,and vaccination with live vaccines may lead to severe infections.This study found that the c.675 C＞A mutation of the IL-2RG gene was a novel pathogenic variation of the genetic cause of X-SCID,expanding the mutation spectrum of the X-SCID pathogenic gene IL-2RG.

To establish reference intervals for thyroid functional indicators in early (T1), mid-term (T2), and late stage (T3) pregnancy in a population of women in Northwestern China. A cross-sectional study was conducted on 620 pregnant women. Subjects were recruited through a questionnaire where apparently healthy women were selected. Serum thyroid stimulating hormone (TSH3), total triiodothyronine (TT3), total thyroid hormone (TT4), free triiodothyronine (FT3), and free thyroid hormone (FT4) were detected using the Beckman Unicel DXI 800 automatic chemiluminescence analyzer (the third-generation TSH detection reagent for TSH3),and the reference intervals of different gestation periods were established. The results showed that the reference intervals of TSH3 in T1, T2, and T3 were 0.05-4.59, 0.61-6.01, and 0.63-4.78 mIU/L, respectively; TT3 were 1.62-2.97 nmol/L, 1.59-2.95 nmol/L, and 1.45-2.70 nmol/L, respectively; TT4 were 95.49-185.00 nmol/L, 92.70-181.54 nmol/L, and 77.93-155.09 nmol/L, respectively; FT3 were 3.18-5.22 pmol/L, 2.78-4.67 pmol/L, and 2.51-4.18 pmol/L, respectively; and FT4 were 7.72-12.97 pmol/L, 6.90-1.09 pmol/L, and 5.63-9.85 pmol/L, respectively. All thyroid function indexes had statistically significant differences between the three stages of pregnancy (TSH: H=30.879, P<0.01;FT3: H =153.827, P<0.01;FT4: H =229.967, P<0.01;TT3: H =36.484, P<0.01;TT4: H =58.531, P<0.01). 20 independent samples were collected to verify the reference intervals of TSH, FT3, FT4, TT3 and TT4 for three trimesters of pregnancy, and all of them passed.

To establish reference intervals for thyroid functional indicators in early (T1), mid-term (T2), and late stage (T3) pregnancy in a population of women in Northwestern China. A cross-sectional study was conducted on 620 pregnant women. Subjects were recruited through a questionnaire where apparently healthy women were selected. Serum thyroid stimulating hormone (TSH3), total triiodothyronine (TT3), total thyroid hormone (TT4), free triiodothyronine (FT3), and free thyroid hormone (FT4) were detected using the Beckman Unicel DXI 800 automatic chemiluminescence analyzer (the third-generation TSH detection reagent for TSH3),and the reference intervals of different gestation periods were established. The results showed that the reference intervals of TSH3 in T1, T2, and T3 were 0.05-4.59, 0.61-6.01, and 0.63-4.78 mIU/L, respectively; TT3 were 1.62-2.97 nmol/L, 1.59-2.95 nmol/L, and 1.45-2.70 nmol/L, respectively; TT4 were 95.49-185.00 nmol/L, 92.70-181.54 nmol/L, and 77.93-155.09 nmol/L, respectively; FT3 were 3.18-5.22 pmol/L, 2.78-4.67 pmol/L, and 2.51-4.18 pmol/L, respectively; and FT4 were 7.72-12.97 pmol/L, 6.90-1.09 pmol/L, and 5.63-9.85 pmol/L, respectively. All thyroid function indexes had statistically significant differences between the three stages of pregnancy (TSH: H=30.879, P<0.01;FT3: H =153.827, P<0.01;FT4: H =229.967, P<0.01;TT3: H =36.484, P<0.01;TT4: H =58.531, P<0.01). 20 independent samples were collected to verify the reference intervals of TSH, FT3, FT4, TT3 and TT4 for three trimesters of pregnancy, and all of them passed.