: Both X-linked hypohidrotic ectodermal dysplasia (XLHED) and non-syndromic tooth agenesis (NSTA) result in symptoms of congenital tooth loss. This study investigated genetic causes in two families with XLHED and four families with NSTA. We screened for mutations of WNT10A, EDA, EDAR, EDARADD, PAX9, MSX1, AXIN2, LRP6, and WNT10B through Sanger sequencing. Whole exome sequencing was performed for the proband of NSTA Family 4. Novel mutation c.1051G>T (p.Val351Phe) and the known mutation c.467G>A (p.Arg156His) of Ectodysplasin A (EDA) were identified in families with XLHED. Novel EDA receptor (EDAR) mutation c.73C>T (p.Arg25*), known EDA mutation c.491A>C (p.Glu164Ala), and known Wnt family member 10A (WNT10A) mutations c.511C>T (p.Arg171Cys) and c.742C>T (p.Arg248*) were identified in families with NSTA. The novel EDA and EDAR mutations were predicted as being pathogenic through bioinformatics analyses and structural modeling. Two variants of WNT10A, c.374G>A (p.Arg125Lys) and c.125A>G (p.Asn42Ser), were found in patients with NSTA. The two WNT10A variants were predicted to affect the splicing of message RNA, but minigene experiments showed normal splicing of mutated minigenes. This study uncovered the genetic foundations with respect to six families with XLHED or NSTA. We identified six mutations, of which two were novel mutations of EDA and EDAR. This is the first report of a nonsense EDAR mutation leading to NSTA.

Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the teeth, hair, and sweat glands. Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and HED has not yet been validated. In this study, we included patients who presented at least two of the three ectodermal dysplasia features. The four genes were analyzed in seven HED patients by PCR and Sanger sequencing. Five EDA and one EDAR heterozygous mutations were identified in families 1–6. Two WNT10A heterozygous mutations were identified in family 7 as a compound heterozygote. c.662G>A (p.Gly221Asp) in EDA and c.354T>G (p.Tyr118*) in WNT10A are novel mutations. Bioinformatics analyses results confirmed the pathogenicity of the two novel mutations. In family 7, we also identified two single-nucleotide polymorphisms (SNPs) that were predicted to affect the splicing of EDAR. Analysis of the patient’s total RNA revealed normal splicing of EDAR. This ascertained that the compound heterozygous WNT10A mutations are the genetic defects that led to the onset of HED. Our data revealed the genetic basis of seven HED patients and expended the mutational spectrum. Interestingly, we confirmed WNT10A as a candidate gene of HED and we propose WNT10A to be tested in EDA-negative HED patients.

Background: The experimental teaching of pediatric dentistry is a bridge between theoretical study and clinical practice, and virtual simulation technology provides a new method of instruction.Methods: We built an experimental teaching platform using virtual simulation technology for vital pulpotomy that includes learning and examination modes. A total of 199 students majoring in stomatology in the fourth year at Sun Yat-Sen University were randomly divided into a control group (conventional teaching mode) and an experimental group (virtual simulation experimental teaching model). The teaching effect was evaluated by theoretical and experimental examination.Results: We found that both the theoretical and experimental scores of the experimental group were higher than those of the control group, and the theoretical scores of the experimental group after exposure to the virtual simulation experimental teaching platform were also higher than those before the class, with significant differences (P < 0.05). Feedback from the experimental group after the class indicated that the platform reinforced their theoretical knowledge and greatly improved their mastery of operational skills.Conclusions: The application of a virtual simulation experimental teaching platform can effectively improve the teaching of pulpotomy.

Graphene oxide quantum dots (GOQDs) are a carbon nanomaterial with broad potential for application in the field of nanomaterial biomedicine. Stem cells from human exfoliated deciduous teeth (SHEDs) play an important role in tissue engineering and regenerative medicine. This study investigated the effects of GOQDs on SHED osteogenic differentiation. GOQDs were synthesized; then, the proliferation of SHEDs incubated in GOQDs at different concentrations was evaluated; and the live cells were observed. We observed that live SHEDs incubated in GOQDs emitted green fluorescence in the absence of chemical dyes, and 1, 10, and 50μg/mL GOQDs significantly promoted SHED proliferation. Culture with the osteogenic induction medium containing 10μg/mL GOQDs induced calcium nodule formation, increased alkaline phosphatase (ALP) activity, and upregulated SHED mRNA and protein levels of OCN, RUNX2, COL I, and β-catenin. With the addition of Dickkopf 1 (DKK-1) or β-catenin knockdown, expression levels of the above mRNAs and proteins were decreased in GOQD-treated SHEDs. In summary, at a concentration of 10μg/mL, GOQDs promote SHED proliferation and osteogenic differentiation via the Wnt/β-catenin signaling pathway. This work provides new ideas and fundamental information on interactions between GOQDs and SHEDs that are relevant for the biomedical engineering field.

Supernumerary tooth-derived pulp stem cells (SNTSCs) hold promise for endodontic regeneration, yet little is known about the similarities and diversities of SNTSCs relative to other dental-derived mesenchymal stem cells. Herein, we compare the biological characteristics of SNTSCs with dental pulp stem cells (DPSCs) and stem cells from human exfoliated deciduous teeth (SHED). Cell proliferation, migration, and odontogenic differentiation potential, as well as viability and aging-related phenotype after long-term storage, were evaluated. Additionally, gene expressions during induced odontogenic differentiation were profiled by transcriptome sequencing. Our findings indicated that the SNTSCs outperformed the DPSCs but were inferior to the SHED in cell proliferation. The SNTSCs exhibited comparable migratory capacity to the SHED and surpassed the DPSCs. Of particular interest, the odontogenic differentiation potential followed the pattern of SHED > SNTSCs > DPSCs. After two years of storage, the SNTSCs showed weakness in resistance to apoptosis induced by lipopolysaccharide, whereas difference between the SNTSCs and SHED in stemness and senescence was not obvious. Transcriptome analysis revealed that upregulated genes in the SNTSCs were particularly enriched in inflammatory signaling pathways compared to both the DPSCs and SHED. Collectively, SNTSCs share many satisfactory features in proliferation and differentiation with SHED, which may serve as a promising alternative cell source for endodontic regeneration.

Objectives To analyze the treatment outcomes and prognostic factors of mucosal melanoma of the head and neck (MMHN) from a single institution.Methods From December 1989 to November 2018, 190 patients diagnosed with MMHN were included. Survival analysis was performed using the Kaplan-Meier method for univariate analysis with a log-rank test for significance and Cox regression for multivariate analysis.Results With a median follow-up time of 43.5 months, 126 (68.5%) patients died. The median DSS was 35 months. The 3- and 5-year disease-specific survival (DSS) rates were 48.1% and 33.7%, respectively. The median overall survival (OS) was 34 months. The 3- and 5-year OS rates were 47.0% and 32.9%, respectively. In univariate analysis, the T3 stage, received surgery, R0 resection, and combined therapy (surgery+biotherapy/biochemotherapy) were significantly associated with better survival. Multivariable Cox regression analysis revealed that the T4 stage (HR = 1.692; 95% CI, 1.175-2.438; p = .005) and the N1 stage (HR = 1.600; 95% CI, 1.023-2.504; p = .039) were strong prognostic factors for poor survival, and that combined therapy (surgery+biotherapy/biochemotherapy) was a strong prognostic factor for better survival outcome (HR = 0.563; 95% CI, 0.354-0.896; p = .015).Conclusion The prognosis of MMHN remains poor. Systemic treatment is warranted to reduce MMHN progression. Surgery combined with biotherapy may improve survival.