OBJECTIVE: To analyze the clinical features and pathogenic variant in a Chinese pedigree affected with cleidocranial dysplasia (CCD). METHODS: Clinical data of 8 patients from the pedigree was collected, including physical examination and X-ray images of head, face, spine, limbs, and mouth. Peripheral blood samples were collected from 6 affected members for the extraction of genomic DNA. The proband and other 3 patients were subjected to trio-whole exome sequencing. Candidate variant was verified by Sanger sequencing of the other 2 affected members from the pedigree. RESULTS: This pedigree has included 22 members (8 affected) from four generations. Genetic testing revealed that the proband has harbored a novel pathogenic variant of the RUNX2 gene [NM_001024630: c.1268_1277del (p.P425Afs*56)], which was inherited from her mother and carried by all affected members in the pedigree. The same variant was not detected among the unaffected members, suggesting co-segregation with the phenotype. CONCLUSION The c.1268_1277del (p.P425Afs*56) variant of the RUNX2 gene probably underlay the pathogenesis of CCD in this pedigree. Genetic testing has facilitated the definite diagnosis and enabled prenatal diagnosis.
Humans ; Pregnancy ; Female ; Cleidocranial Dysplasia/genetics* ; Pedigree ; Core Binding Factor Alpha 1 Subunit/genetics* ; Phenotype ; China ; Mutation

Objective: To produce latent membrane protein 2A (LMP2A) chimeric antigen receptor (CAR)-T cells and detect the lethal effect of LMP2A CAR-T cells on nasopharyngeal carcinoma (NPC) cells. Methods: The study was conducted from September 2016 to December 2017.Genetic engineering technology was used to construct anti-LMP2A CAR lentiviral expression vector and sequencing was identified. The expression of anti-LMP2A CAR in the 293T cells was confirmed by western blot. CCK8 assay was used to evaluate the cytotoxicity of LMP2A CAR-T cells to NPC cells. ELISA assay was performed to test IL-2 and IFN-γ releasing of activated LMP2A CAR-T cells. The inhibition effect of LMP2A CAR-T cells on NPC xenograft tumor was observed in vivo. Statistical analysis was performed by statistical software SPSS 21.0. Results: The results of PCR and sequencing showed that anti-LMP2A CAR lentiviral expression vector was constructed successfully. The result of western blot indicated the expression of anti-LMP2A CAR in the 293T cells effectively. The results of CCK-8 assay showed that the killing activities of LMP2A CAR-T cells to LV-LMP2A-CNE1 cells were (72.11±9.75)%, (54.65 ±5.42)% and (36.68±3.80)% at 20∶1, 10∶1 and 5∶1 ratio of effective cells to target cells, and had a statistical difference compared to CD19 CAR-T cells and T cells (P<0.05). There was no significant difference in the killing activities of LMP2A CAR-T cells to CNE1 cells compared with CD19 CAR-T cells and T cells. The results of ELISA showed that the content of IL-2 and IFN-γ in the co-culture supernatant of LMP2A CAR-T cells and LV-LMP2A-CNE1 cells was significantly higher than that of LMP2A CAR-T cells and CNE1 cells which had statistical difference (P<0.05); In vivo experiment, the volume of LMP2A CAR-T cell group was (80.3±10.0) mm³ which was significantly lower than that of the control groups, and the difference was statistically significant (P<0.05). Conclusion LMP2A CAR-T cells are successfully prepared and have an obvious targeting cytotoxicity on LMP2A-positive NPC cells.

Objective:To evaluate the effectiveness of Minqing Ao dental desensitizer in the treatment of early childhood caries (ECC).Methods:41 0 teeth with ECC in 1 1 0 cases were divided into 3 groups.Minqing Ao dental desensitizer,fluoride toothpaste and ordinary toothpaste without fluoride were respectively used in group A,B and C.The laser fluorescence value(LFV)was meas-ured and compared before treatment,2,4,6 weeks and 6 months after treatment.Results:2 weeks after treatment,the LFV was not significantly changed in the 3 groups.4 weeks after treatment LFV in group A was decreased(P<0.01 ),the LFV in group A was lower than that in group B(P<0.05)and in group C(P<0.01 ).While there was no significant difference between group B and C(P>0.05).6 weeks after treatment LFV in group A and B was decreased(P<0.01 and P<0.05),there was significant difference be-tween each 2 groups(P<0.05).6 weeks and 6 months after treatment LFV in group A was lower than that in group B(P<0.01 ),and in group B was lower than that in group C(P<0.01 ).Conclusion:Minqing Ao is effective for treatment of early childhood caries.

BACKGROUND:Resin infiltration is a novel approach in treating non-cavitated caries lesions on smooth surfaces, and the effectiveness comparison between resin infiltration and remineralizing therapy is required.
OBJECTIVE:To compare the effects of resin infiltration and remineralizing therapy on inhibition of non-cavitated lesions in vitro.
METHODS:Three subsurface lesions were created on 35 bovine labial specimens. One of the lesions was permeated with Icon? infiltrant, one was applied by 0.1%NaF solution daily for 7 consecutive days, whereas one lesion remained as the untreated control. Subsequently, half of each specimen was covered with nail varnish
(baseline) and the other half was re-exposed to a demineralizing solution for 5 days (experimental). The specimens were cut perpendicularly to the surface, stained with Rhodamine B and observed with fluorescence microscope.
RESULTS AND CONCLUSION:For lesions permeated with Icon? infiltrant and applied by 0.1%NaF solution, the progression of lesion depth was significantly decreased (P<0.05) compared with the untreated control. Lesions permeated with Icon? infiltrant got more significantly reduced lesion progression (P<0.05) compared with the ones applied by 0.1%NaF solution. It can be concluded that both resin infiltration and remineralizing therapy have active effects on inhibition of non-cavitated lesions, and fil ing the pores with Icon? infiltrant can inhibit further demineralization even better.