The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)最新文献

Objective: To provide novel insights into the aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) by integrating multi-omics data and exploring susceptibility genes associated with NSCL/P.

Methods: A two-stage genome-wide association study (GWAS) of NSCL/P was performed, involving a total of 1,069 cases and 1,724 controls. Using promoter capture Hi-C (pCHi-C) datasets in human embryonic stem cells (hESC) and chromatin immunoprecipitation sequencing (ChIP-seq) in craniofacial tissues, we filtered out single nucleotide polymorphisms (SNPs) with active cis-regulation and their target genes. Additionally, we employed expression quantitative trait loci (eQTL) analysis to identify candidate genes.

Results: Thirteen SNPs were identified as cis-regulation units associated with the risk of NSCL/P. Five of these were proven to be active in chromatin states in early human craniofacial development (rs7218002: odds ratio [OR] 1.50, P = 8.14E-08; rs835367: OR 0.78, P = 3.48E- 05; rs77022994: OR 0.55, P = 1.05E-04; rs961470: OR 0.73, P = 1.38E-04; rs17314727: OR 0.73, P = 1.85E-04). Additionally, pCHi-C and eQTL analysis prioritised three candidate genes (rs7218002: NTN1, rs835367: FGGY, LINC01135). NTN1 and FGGY were expressed in mouse orofacial development. Deficiencies in NTN1, FGGY and LINC01135 were associated with cleft palate and cleft lip, abnormal facial shape and bifid uvula, and abnormality of the face, respectively.

Conclusion: Our study identified five SNPs (rs7218002, rs835367, rs77022994, rs961470 and rs17314727) and three susceptibility genes (NTN1, FGGY and LINC01135) associated with NSCL/P. These findings contribute to a better understanding of the genetic factors involved.

Objective: To provide a comprehensive overview of the current knowledge structure and research hotspots of Cowden syndrome via bibliometrics.

Methods: The articles and reviews related to Cowden syndrome were included from the Web of Science Core Collection (WoSCC) database. VOSviewer, CiteSpace and GraphPad Prism were used to conduct the bibliometric analysis.

Results: The number of papers focusing on Cowden syndrome was relatively low initially but increased rapidly from 1997 to 1999, and then maintained small-scale fluctuation. A total of 1,557 papers from 65 countries/regions and 1,762 institutions were identified. The USA was the most productive country, and Ohio State University was the most productive institution. In terms of the number of publications, Human Molecular Genetics ranked first, and Cancer Research was the most frequently cited journal. Eng was the most productive author, and Liaw was the most co-cited author. Phosphatase and tensin homologue (PTEN), germline mutations, gene, cancer, mutations, tumour suppressor gene and breast were high-frequency key words in this field.

Conclusion: This study was the first comprehensive bibliometric overview of the current state and development of Cowden disease. The mutation of PTEN and associated cancers, especially breast, thyroid and endometrial cancer, could be the focus of future research in this field.

Objective: To explore the genetic background and clinical phenotypes of multiple idiopathic cervical root resorption (MICRR) in a Chinese family.

Methods: The proband and his three family members were clinically examined and had radiographs taken with a radiovisiography (RVG) system and CBCT to define the diagnosis of MICRR. Genomic DNA (gDNA) was extracted from peripheral blood samples of the patient, his father, mother and younger sister for whole exome sequencing (WES). The pathogenicity of rare variants with minor allele frequency (MAF) less than 0.005 were analysed following possible inheritance patterns, predicted results from 12 software programs, the American College of Medical Genetics (ACMG) 2015 criteria, and information from ClinVar, OMIM and HGMD databases as well as gene function.

Results: The proband presented the typical MICRR phenotypes such as thin cervical pulp wall and apple core-like lesions in radiographs. Following the recessive inheritance pattern, WES analysis identified SHROOM2, SYTL5, MAGED1 and FLNA with a higher chance of causing MICRR. Four genes with compound heterozygous variants and another 27 genes with de novo variants either in autosomal-dominant or autosomal-recessive pattern were also found to have the potential pathogenicity.

Conclusion: A total of 35 novel potential pathogenic genes were found to be associated with MICRR from a Chinese family through WES. The new genetic background of MICRR may be helpful for clinical and molecular diagnosis.

Objective: To compare calcium silicate-based endodontic sealer and epoxy resin-based sealer remnants on root canal walls after post space preparation and their influence on the bond strength of fibre posts fixed with a dual-cured resin cement.

Methods: Thirty-six extracted single-root mandibular premolars were instrumented and divided randomly into two equal groups with different endodontic sealers. iRoot SP (Innovative BioCeramix, Vancouver, Canada) was employed in the experimental group and AH Plus (Dentsply Sirona, Charlotte, NC, USA) was used in the control group. Sealer remnants were observed under an endodontic microscope after root canal therapy and post space preparation. Fibre posts were fixed with dual-cured resin cement. Specimens were taken at each third of the post space. The push-out bond strength was measured using a universal testing machine and fracture modes were assessed. Statistical analysis was performed using an independent samples t test and one-way analysis of variance.

Results: There was no statistically significant difference in bond strength of fibre posts between the control and experimental group (P > 0.05); however, sealer remnants were observed in 38.9% of the samples treated with iRoot SP and none of the samples treated with AH Plus. The major fracture mode in samples treated with iRoot SP was adhesive failure between the resin cement and the post, and no adhesive failure between the resin cement and dentine occurred at the site of the sealer remnant. The presence of iRoot SP remnants on the root canal walls after post space preparation did not interfere with bonding.

Conclusion: iRoot SP is a viable option for root canal obturation before fibre post cementation.

Dentine is a major component of teeth and is responsible for many of their functions, such as mastication and neural sensation/transduction. Over the past decades, numerous studies have focused on dentine development and regeneration using a variety of research models, including in vivo, ex vivo and in vitro models. In vivo animal models play a crucial role in the exploration of biochemical factors that are involved in dentine development, whereas ex vivo and in vitro models contribute mainly to the identification of biophysical factors in dentine regeneration, of which mechanical force is most critical. In the present review, research models involved in studies related to dentine development and regeneration were screened from publications released in recent years and summarised comprehensively, particularly in vivo animal models including prokaryotic microinjection, Cre/LoxP, CRISPR/Cas9, ZFN and TALEN, and scaffold-based in vitro and ex vivo models. The latter were further divided by the interactive forces. Summarising these research models will not only benefit the development of future dentine-related studies but also provide hints regarding the evolution of novel dentine regeneration strategies.

Objective: To evaluate the effects of powered and manual tooth brushing on gingival inflammation in a Chinese population with mild to moderate gingivitis.

Methods: The present randomised, single-blind, parallel clinical trial was conducted in five cities in China. Generally healthy participants aged 18 to 65 years, who were non-smokers and had at least 20 sites of gingival bleeding, were included as eligible subjects. The subjects were randomly assigned to either the powered tooth brushing (PTB) group or standard manual tooth brushing (MTB) group. All subjects were supplied with a fluoride-containing toothpaste, Gingival Bleeding Index (GBI), Modified Gingival Index (MGI) and the Turesky modification of the Quigley-Hein Plaque Index (MPI) were used to evaluate the outcomes.

Results: A total of 235 subjects completed the study, 118 in the PTB group and 117 in the MTB group. The mean age and sex distribution for the PTB and MTB groups were 34.40 ± 9.99 years, 89 women and 29 men, and 34.20 ± 10.14 years, 82 women and 35 men, respectively. After 6 months, the percentage decrease in MGI was 26.150% ± 26.897% for the PTB group and 14.768% ± 38.544% for the MTB group (P = 0.0092). Statistically significant differences between types of tooth brushing were also observed at 6 months for GBI, and at all time points for MPI.

Conclusion: Tooth brushing with a powered toothbrush twice a day was shown to be more effective than use of a manual toothbrush in reducing gingival inflammation, gingival bleeding and surface plaque after a 6-month period. Both kinds of toothbrushes were safe for the oral tissues.

Oral submucous fibrosis (OSF) is a chronic, progressive and potentially malignant oral mucosal disease. Patients often have a habit of chewing betel nuts. Areca catechu has been listed as a Class 1 carcinogen by the International Agency for Research on Cancer (IARC), and its main active component, arecoline, is classified as a Group 2B carcinogen by the IARC. The World Health Organization (WHO) categorises OSF as an oral potentially malignant disorder (OPMD). The present guideline describes the risk factors, clinical symptoms and clinical signs of OSF. Clinical staging, auxiliary examination methods, basis for diagnosis and differential diagnosis and the need to improve bad lifestyle habits are proposed and addressed, and local treatment drugs, therapies, dosage and course of treatment, possible adverse reactions, and oral treatment drugs, dosage and course of treatment are proposed. The guideline also addresses the indications for surgical treatment, alternative non-drug treatment methods, selection of treatment plans for different clinical stages, criteria for efficacy evaluation, and preventive measures.

Objective: To construct a cellular senescence-related DNA methylation model to act as an independent prognosis predictor for patients with head and neck squamous cell carcinoma (HNSCC).

Methods: Methylome, transcriptome and clinical information for 499 HNSCC patients were received from The Cancer Genome Atlas (TCGA) as a training set. An extra independent methylation dataset of 54 patients with oral squamous cell carcinoma (OSCC) was downloaded from the NCBI Gene Expression Omnibus (GEO) database as the validation set. To assess the cellular senescence level of each sample, the senescence score (SS) of each patient was calculated using the transcriptome data via single-sample gene set enrichment analysis (ssGSEA). Least absolute shrinkage and selection operator (LASSO) Cox regression analyses were conducted to confirm Cytosine, phosphoric acid and Guanine (CpG) sites for the development of a cellular senescence-related DNA methylation signature.

Results: Based on the SS of each HNSCC patient in the TCGA cohort, the patients were divided into high- and low-SS subgroups. The high-SS group showed a better prognosis than the low-SS group. Moreover, 3,261 differentially methylated CpG sites (DMCs) were confirmed between the two groups. Among them, 16 DMCs were included to develop a 16-DNA methylation signature for evaluation of HNSCC prognosis using LASSO and multivariate Cox regression analysis.

Conclusion: A novel cellular senescence-related 16-DNA methylation signature was determined, which can be used as an independent index to evaluate the prognosis of HNSCC patients and select appropriate treatment strategies.

Renal cell carcinoma (RCC) is often diagnosed in advanced stages and a third of patients have distant metastasis at diagnosis. Metastasis may be the first evidence of clear cell RCC in many cases. RCC most often metastasises to the lung, liver, bone, brain and thyroid; however, metastatic disease to the oral cavity, especially the mandible, is rare. The purpose of this study is to report a case of clear cell RCC metastatic to the mandible and review the literature. The mandible lesion underwent radical excision in this case. Notably, no metastatic lesions were detected in the lungs and liver in this patient until 15 months after the mandibulectomy. The patient lived for around 2.5 years after the diagnosis of RCC.

Birth defects have always been one of the most important diseases in medical research as they affect the quality of the birth population. Orofacial clefts (OFCs) are common birth defects that place a huge burden on families and society. Early screening and prevention of OFCs can promote better natal and prenatal care and help to solve the problem of birth defects. OFCs are the result of genetic and environmental interactions; many genes are involved, but the current research has not clarified the specific pathogenesis. The mouse animal model is commonly used for research into OFCs; common methods of constructing OFC mouse models include transgenic, chemical induction, gene knockout, gene knock-in and conditional gene knockout models. Several main signal pathways are involved in the pathogenesis of OFCs, including the Sonic hedgehog (SHH) and transforming growth factor (TGF)-β pathways. The genes and proteins in each molecular pathway form a complex network to jointly regulate the formation and development of the lip and palate. When one or more genes, proteins or interactions is abnormal, OFCs will form. This paper summarises the mouse models of OFCs formed by different modelling methods, as well as the key pathogenic genes from the SHH and TGF-β pathways, to help to clarify the pathogenesis of OFCs and develop targets for early screening and prevention.