Objective To evaluate the clinical usefulness of Treponema pallidum IgM Western blot (TP-IgM-WB) test in the diagnosis of neonatal congenital syphilis. Methods Eight cases of neonatal congenital syphilis, whose mothers were diagnosed as syphilis at different pregnant stages, were tested by TRUST, TPPA, FTA-ABS-19S-IgM and TP-IgM-WB. The results and clinical manifestations were analysed. Results Three of 8 cases presented clinical manifestations of congenital syphilis, including typical cutaneous lesions, syphilitic pneumonia, and multi-system failure. The others were asymptomatic. In all 8 cases TP-IgM-WB was positive. Of them 7 cases FTA-ABS-19S-IgM was positive. Six cases (including 3 symptomatic) were positive to all four tests. One case was positive to FTA-ABS-19S-IgM and TP-IgM-WB, but negative to TRUST and TPPA. One case was negative to FTA-ABS-19S-IgM, but positive to TPPA, TP-IgM-WB and TRUST, and TRUST titer was 4 times as high as her mother. Conclusions In view of its high specificity and sensitivity, TP-IgM-WB could be used as a confirmatory test for the diagnosis of both symptomatic and asymptomatic neonatal congenital syphilis.

OBJECTIVE: To explore the genetic basis for a child featuring short stature and postaxial polydactyly. METHODS: A child who presented at Ningbo Women & Children's Hospital in May 2021 due to the"discovery of growth retardation for more than two years" was selected as the subject. Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members. RESULTS: The child was found to harbor a heterozygous c.3670C>T (p.Q1224) variant of the GLI2 gene, which may lead to premature termination of protein translation. The variant was not detected in either parent. CONCLUSION The child was diagnosed with Culler-Jones syndrome. The c.3670C>T (p.Q1224*) variant of the GLI2 gene probably underlay the disease in this child.
Child ; Female ; Humans ; Fingers ; Mutation ; Nuclear Proteins/genetics* ; Polydactyly/genetics* ; Toes ; Zinc Finger Protein Gli2/genetics*

Objective:To analyze the activity of lithium chloride (LiCl) against influenza virus A (H3N2) in human non-small cell lung cancer cells (A549).Methods:Different concentrations of LiCl were incubated with A549 cells, and the cytopathic effect (CPE) was observed after 24 hours, and the effect of LiCl on cell activity was determined by CCK-8 method. After H3N2 (MOI=1) infected A549 cells, different concentrations of LiCl were added and incubated for 24 hours, and the viral load was measured by real time/reverse transcription quantitative polymerase chain reaction (RT-qPCR), and the CPE was observed, and the viral titer was determined. Different concentrations of LiCl were incubated with A549 at 37 ℃ and 5% CO 2 for 2 hours, virus was added and incubated for 24 hours, and the viral load was determined by RT-qPCR. LiCl, H3N2 and A549 were incubated at 4 ℃ for 1 hour, 35 ℃, 5% CO 2 for 24 hours, and viral load was determined by RT-qPCR. H3N2 and A549 were incubated at 4 ℃for 1 hour, then different concentrations of LiCl were added, incubated at 35 ℃ with 5% CO 2 for 24 hours, and the viral load was determined by RT-qPCR. After H3N2 infected A549 cells, different concentrations of LiCl were added and incubated for 24 hours, and the viral RNA load and viral titer of the supernatant and cells were measured, respectively, and then the corresponding ratios of the supernatant and the cells were calculated. After H3N2 (MOI=10) and BV (MOI=1) infected A549 cells, different concentrations of LiCl were added for 24 h, and the viral load was determined by RT-qPCR. Results:When the concentration of LiCl was<50 mmol/L, the cell viability of A549>90%. Different concentrations of LiCl could significantly reduce the viral load of H3N2 ( P<0.000 1), and the CPE of the LiCl treatment group was more dose-dependent than that of the control group. LiCl did not inhibit viral replication by affecting the cell itself; Different concentrations of LiCl significantly inhibited the entry of H3N2 into A549 ( P<0.000 1), and also had a certain inhibitory effect on the adsorption of A549 cells ( P<0.1). LiCl did not affect the assembly and release of H3N2 ( P>0.05), and it was also found that LiCl had a broad spectrum of antiviral effects against multiple influenza virus strains ( P<0.000 1). Conclusions:LiCl may exert antiviral effect by inhibiting the adsorption and entry of H3N2 into A549 cells and the replication of H3N2 in A549 cells, which provides a data reference for the prevention and treatment of viral infection by LiCl.