1.Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.
Jianfan CHEN ; Xueqing XU ; Song CHEN ; Ting LU ; Yingchun ZHENG ; Zhongzhi GAN ; Zongrui SHEN ; Shunfei MA ; Duocai WANG ; Leyi SU ; Fei HE ; Xuan SHANG ; Huiyong XU ; Dong CHEN ; Leitao ZHANG ; Fu XIONG
International Journal of Oral Science 2023;15(1):46-46
Hereditary gingival fibromatosis (HGF) is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic heterogeneity. Five distinct loci related to non-syndromic HGF have been identified; however, only two disease-causing genes, SOS1 and REST, inducing HGF have been identified at two loci, GINGF1 and GINGF5, respectively. Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. Functional studies demonstrated that the ZNF513 p.R250W and KIF3C p.R410H variants significantly increased the expression of ZNF513 and KIF3C in vitro and in vivo. ZNF513, a transcription factor, binds to KIF3C exon 1 and participates in the positive regulation of KIF3C expression in gingival fibroblasts. Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. In addition, we found that ZNF513 binds to the SOS1 promoter and plays an important positive role in regulating the expression of SOS1. Moreover, the KIF3C p.R410H mutation could activate the PI3K and KCNQ1 potassium channels. ZNF513 combined with KIF3C regulates gingival fibroblast proliferation, migration, and fibrosis response via the PI3K/AKT/mTOR and Ras/Raf/MEK/ERK pathways. In summary, these results demonstrate ZNF513 + KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF.
Animals
;
Humans
;
Mice
;
Fibromatosis, Gingival/pathology*
;
Gingiva
;
Kinesins/genetics*
;
Mutation/genetics*
;
Phosphatidylinositol 3-Kinases/genetics*
2.Clinical observation on soft and hard tissue changes of immediate implantation and immediate reconstruction in anterior region after loading 3 years.
Min Jie WU ; Li Dong ZOU ; Feng LIANG
Journal of Peking University(Health Sciences) 2018;50(4):694-699
OBJECTIVE:
To observe the change of soft and hard tissue in dental immediate implantation and immediate reconstruction in anterior region after loading 3 years.
METHODS:
Patients with single anterior tooth loss in the Department of Second Dental Center, Peking University School and Hospital of Stomatology from October 2008 to October 2012 were enrolled. The gingival papilla height, labial gingival margin level and peri-implant bone level were measured immediately after the permanent restoration and 3 years later.
RESULTS:
In the study, 20 patients were treated by immediate implantation and immediate reconstruction for 22 implants; 24 patients were treated by delayed implant for 29 implants. Implant stability quotient (ISQ) value of the two groups showed no significant difference before permanent restoration (P>0.05). In all the cases after loading 3 years, the average mesial gingival papilla height in implant area of the immediate group and delayed group changed by (0.34±0.54) mm and (0.05±0.39) mm respectively (P=0.07), the distal gingival papilla height changed by (0.43±0.42) mm and (0.36±0.48) mm respectively (P=0.13), while the labial gingival margin level shrinkages were (0.70±0.40) mm and (0.62±0.34) mm respectively (P=0.23). Peri-implant bone losses in the mesial side were (1.02±0.50) mm and (0.88±0.46) mm respectively (P=0.53), while those in the distal side were (1.05±0.34) mm and (0.95±0.47) mm respectively (P=0.21). All these indicators showed no significant difference between the two groups (P>0.05); When the permanent prostheses delivered, the distributions of the gingival papilla index were different between the two groups whether in the mesial side or in the distal side (P<0.05).
CONCLUSION
The changes of the soft and hard tissue of the immediate implantation and immediate reconstruction in anterior region after loading 3 years were basically equivalent to the conventional implant restoration. But, the former was obviously better than the latter in reducing the duration of treatment and in getting the ideal dental papilla aesthetic effect.
Dental Implantation, Endosseous
;
Dental Implants, Single-Tooth
;
Dental Prosthesis, Implant-Supported
;
Dental Restoration, Temporary
;
Esthetics, Dental
;
Gingiva/pathology*
;
Humans
;
Immediate Dental Implant Loading
;
Maxilla/pathology*
;
Prospective Studies
;
Treatment Outcome
3.Prevalence of oral lesions and measurement of salivary pH in the different trimesters of pregnancy.
Singapore medical journal 2015;56(1):53-57
INTRODUCTIONOral changes observed during pregnancy have been studied for many years, but their magnitude and frequency have not been stressed upon. This study was undertaken to assess the prevalence of oral lesions during different trimesters of pregnancy and their correlation with salivary pH change.
METHODSThe gingival, simplified oral hygiene, community periodontal and decayed-missing-filled teeth indices were used to assess a total of 120 pregnant women (40 in each trimester group) and 40 nonpregnant women (control group). Salivary pH was measured using a digital pH meter. Presence of any oral lesions was determined via oral examination.
RESULTSScores for all indices increased while salivary pH decreased from the control group to the first trimester group, through to the third. Oral lesions were seen in 44.2% of pregnant women. Lesions were seen in 27.5%, 52.5% and 52.5% of women in the first, second and third trimesters, respectively. The percentage of pregnant women with one oral lesion was highest in the second trimester (47.5%), whereas the third trimester had the highest prevalence (17.5%) of two concurrent oral lesions. The incidence of fissured tongue was highest in the first trimester group, and that of gingival enlargement was highest in the third trimester group. In the second trimester group, there was an almost equal incidence of fissured tongue and gingival/mucosal enlargement.
CONCLUSIONMost changes in oral tissues during pregnancy can be avoided with good oral hygiene. Salivary pH could be used to assess the prevalence of oral lesions in the different trimesters of pregnancy.
Adolescent ; Adult ; Dental Caries ; complications ; diagnosis ; Female ; Gingiva ; pathology ; Humans ; Hydrogen-Ion Concentration ; Mouth Diseases ; complications ; diagnosis ; Oral Hygiene ; Pregnancy ; Pregnancy Complications ; Pregnancy Trimesters ; Prevalence ; Saliva ; chemistry ; Tongue ; pathology ; Young Adult
4.Primary sarcomatoid carcinoma of the mandibular gingiva: clinicopathological and radiological findings.
Singapore medical journal 2014;55(9):e152-5
Sarcomatoid carcinoma is a rare, malignant biphasic neoplasm with an epithelial and a spindle cell component. Primary sarcomatoid carcinomas arising from mandibular gingiva are known to be extremely rare, with only one case reported to date. Herein, we discuss the radiographic and computed tomographic appearances and pathological features of primary mandibular sarcomatoid carcinoma, which was confirmed by clinicopathology, in a 72-year-old man. In addition, we present a brief review of the relevant literature.
Aged
;
Bone and Bones
;
diagnostic imaging
;
Carcinoma
;
pathology
;
Carcinoma, Small Cell
;
pathology
;
Carcinosarcoma
;
pathology
;
Gingiva
;
pathology
;
Gingival Neoplasms
;
pathology
;
Humans
;
Male
;
Mandibular Neoplasms
;
pathology
;
Sarcoma
;
pathology
;
Tomography, X-Ray Computed
5.Identification of the involvement of LOXL4 in generation of keratocystic odontogenic tumors by RNA-Seq analysis.
Wei-Peng JIANG ; Zi-Han SIMA ; Hai-Cheng WANG ; Jian-Yun ZHANG ; Li-Sha SUN ; Feng CHEN ; Tie-Jun LI
International Journal of Oral Science 2014;6(1):31-38
Keratocystic odontogenic tumors (KCOT) are benign, locally aggressive intraosseous tumors of odontogenic origin. KCOT have a higher stromal microvessel density (MVD) than dentigerous cysts (DC) and normal oral mucosa. To identify genes in the stroma of KCOT involved in tumor development and progression, RNA sequencing (RNA-Seq) was performed using samples from KCOT and primary stromal fibroblasts isolated from gingival tissues. Seven candidate genes that possess a function potentially related to KCOT progression were selected and their expression levels were confirmed by quantitative PCR, immunohistochemistry and enzyme-linked immunosorbent assay. Expression of lysyl oxidase-like 4 (LOXL4), the only candidate gene that encodes a secreted protein, was enhanced at both the mRNA and protein levels in KCOT stromal tissues and primary KCOT stromal fibroblasts compared to control tissues and primary fibroblasts (P<0.05). In vitro, high expression of LOXL4 could enhance proliferation and migration of the human umbilical vein endothelial cells (HUVECs). There was a significant, positive correlation between LOXL4 protein expression and MVD in stroma of KCOT and control tissues (r=0.882). These data suggest that abnormal expression of LOXL4 of KCOT may enhance angiogenesis in KCOT, which may help to promote the locally aggressive biological behavior of KCOT.
Adult
;
Amino Acid Oxidoreductases
;
genetics
;
Cell Movement
;
genetics
;
Cell Proliferation
;
Dentigerous Cyst
;
enzymology
;
pathology
;
Disease Progression
;
Female
;
Fibroblasts
;
pathology
;
Gene Expression Regulation, Enzymologic
;
genetics
;
Gingiva
;
pathology
;
Human Umbilical Vein Endothelial Cells
;
pathology
;
Humans
;
Male
;
Microvessels
;
pathology
;
Neovascularization, Pathologic
;
genetics
;
Odontogenic Tumors
;
blood supply
;
enzymology
;
pathology
;
Sequence Analysis, RNA
;
Stromal Cells
;
pathology
;
Young Adult
6.Experimental study on co-culture of salivary adenoid cystic carcinoma cells and ganglia.
Ling GU ; Rong-fa BU ; Dong-sheng WANG ; Ling-ling E ; Guo-xiong ZHU
Chinese Journal of Stomatology 2012;47(1):48-51
OBJECTIVETo construct the co-culture models of salivarya denoid cystic carcinoma (SACC) cells and dorsal root ganglia (DRG) of chickens and investigate the promotive effects of SACC on neural tissue.
METHODSGlass-base culture dish was adopted to construct co-culture model of SACC-83 cells and DRG. SACC-83 cells were seeded in the medium pore with DRG around them. Outgrowth of neuronal processes was observed. Then DRG was cultured in the conditioned medium of SACC-83, with the groups of conditioned medium of MC3T3-E1 and HGF, the group of cell lysis buffer, the groups of serum-free medium and serum-plus medium as the controls. Outgrowth of neuronal processes was also recorded and compared with control groups.
RESULTSIn the co-culture model of tumor and neuronal tissue, SACC-83 cells produced a suitable microenvironment in which neuronal processes remarkably grow. Neuronal processes of most DRG displayed growth tendency toward SACC. The group of conditioned medium from SACC-83 manifested obvious promotive effects on DRG.
CONCLUSIONSCo-culture model of tumor and neuronal tissue was successfully constructed, with which the promotive effects of tumor on outgrowth of neuronal processes could be observed. So hypothesized that SACC could secrete some neurotrophic factors to guide peripheral nerves gemmating and to trigger the cascade of the neural invasion in succession.
Animals ; Carcinoma, Adenoid Cystic ; pathology ; Cell Line ; Cell Line, Tumor ; Chickens ; Coculture Techniques ; Culture Media ; Ganglia, Spinal ; growth & development ; Gingiva ; cytology ; Humans ; Osteoblasts ; cytology ; Salivary Gland Neoplasms ; pathology
7.A case of non-small cell lung cancer that metastasized to the gingiva.
Jong Shin WOO ; Chi Hoon MAENG ; Jae Jin LEE
Korean Journal of Medicine 2007;73(6):661-665
About 5% of all malignancies involve the oral cavity. Metastatic cancers to the oral cavity from distant sites are very rare, and only a few cases have been reported in the clinical literature. The most common tumors that metastasize to the oral cavity originate in the breast, lung, and kidney. We recently experienced a patient who had a non-small cell lung cancer that metastasized to the gingiva. The patient was 56-year-old man. The disease status was a progressive condition, although the patient had received third-line chemotherapy. The patient had multiple bony metastases including vertebral bodies, femurs, and clivus as well as the gingival metastasis. The gingival tumor was histopathologically diagnosed as a poorly differentiated adenocarcinoma. The metastatic gingival tumor had the same pathology as the primary lung cancer.
Adenocarcinoma
;
Breast
;
Carcinoma, Non-Small-Cell Lung*
;
Cranial Fossa, Posterior
;
Drug Therapy
;
Femur
;
Gingiva*
;
Humans
;
Kidney
;
Lung
;
Lung Neoplasms
;
Middle Aged
;
Mouth
;
Neoplasm Metastasis
;
Pathology
8.Expression of proliferating cell nuclear antigen/bcl-2 in gray gingival tissue.
Lin CHEN ; Guo-wei ZHU ; Xiao-hong YANG ; Hua-qing LIU
West China Journal of Stomatology 2004;22(3):180-182
OBJECTIVETo study the expression of PCNA/bcl-2 protein in gray and normal gingival tissue, and to investigate the biological effect of procelain-fused-to-metals (PFM).
METHODSGray gingival tissue animal model was established by PFM prosthesis and immunohistochemistry S-P method was used to detect the PCNA/bcl-2 protein expression in gingival tissue after 3 months, 6 months in PFM groups and control group.
RESULTSThe expression of PCNA had significant difference between the 3th month group and the control group (P < 0.05); no significant difference was found between the 6th month group and the control group (P > 0.05). The expression of bcl-2 had no significant difference between the 6th month group and the control group (P > 0.05).
CONCLUSIONThere were a correlation between the expression of PCNA and inflammation of the gray gingival tissue; The expression of PCNA and bcl-2 protein does not indicate that gray gingival tissue had dysplasia change.
Animals ; Crowns ; Gingiva ; metabolism ; pathology ; Metal Ceramic Alloys ; Proliferating Cell Nuclear Antigen ; biosynthesis ; Proto-Oncogene Proteins c-bcl-2 ; biosynthesis ; Rabbits
9.Effects of baicalin on the expression of pro-MMP-1 and MMP-3 in human gingival fibroblasts and periodontal ligament cells.
Cheng-zhang LI ; Zheng-guo CAO ; Ru YANG ; Zhu-huan SHANG ; Li-jian JIN ; E F COBERT
Chinese Journal of Stomatology 2004;39(3):197-200
OBJECTIVETo investigate the influence of baicalin on the IL-1beta induced pro-MMP-1 in HGF and the effects of baicalin on MMP-3 expression in periodontal ligament cells (PDLCs).
METHODSThe amount of secreted pro-MMP-1 and MMP-3 expression was detected by ELISA and cell immunochemistry.
RESULTS(1) The amount of secreted pro-MMP-1 (3.333 +/- 0.123) microg/L increased significantly following 1 microg/L of IL-1beta, compared with control group (1.960 +/- 0.180) microg/L. Addition of baicalin to cell culture medium for 1 hour following IL-1beta decreased pro-MMP-1 secretion in a dose-dependent manner in the range of 10 approximately 1,000 microg/L. (2) 1 microg/L IL-1beta could significantly stimulate the synthesis and secretion of MMP-3 in PDLCs. (3) The baicalin could not interfere the synthesis of MMP-3, but could inhibit the release of MMP-3 from PDLCs.
CONCLUSIONSBaicalin could inhibit the secretion of pro-MMP-1 and MMP-3 expression in IL-1beta induced HGF and PDLCs, which suggests that baicalin may play an important role in preventing and treating periodontal disease.
Collagenases ; biosynthesis ; genetics ; Enzyme Precursors ; biosynthesis ; genetics ; Fibroblasts ; enzymology ; pathology ; Flavonoids ; pharmacology ; Gingiva ; enzymology ; pathology ; Humans ; Interleukin-1 ; pharmacology ; Interleukin-1beta ; Matrix Metalloproteinase 1 ; Metalloendopeptidases ; biosynthesis ; genetics ; Peptide Fragments ; pharmacology ; Periodontal Ligament ; enzymology ; pathology ; Periodontitis ; enzymology ; pathology ; Scutellaria ; chemistry
10.The study of the relationship of malodor and microbial composition of interdental and subgingival plaques in periodontitis patients.
Yi LIU ; Hai-yun HUANG ; Jin-cai ZHANG ; Song-ling WANG
West China Journal of Stomatology 2004;22(6):466-470
OBJECTIVEThe study is to investigate the microbial composition of interdental and subgingival plaques of periodontitis patients with or without malodor, to explore the relationships between periodontitis and oral malodor.
METHODS20 patients of periodontitis with malodor were chosen from 210 patients of periodontitis, and the clinical parameter of plaque index (PLI), gingival bleeding index (GBI) and probing depth (PD) were measured and compared with the control group which had periodontal disease without malodor. During the experiment, the interdental and subgingival microbial samples in both groups were collected and sent to anaerobic culture for 48 hrs, then the total CFU/ml of each sample were counted, and each type of bacteria was separated and identified. All of the data were analyzed by using the statistical software SPSS 10.0.
RESULTS(1) There were no satistical differences on PLI, GBI, PD between experimental group and control group. (2) The percents of leptospira in both interdental and subgingival plaques of test group were significantly higher than that of the control group (P < 0.01). (3) Either the interdental or in subgingival plaques, the count results of CFU/ml were similar in both groups (P > 0.05). (4) The proportions of malodor producing anaerobic bacteria in interdental gingival plaque, such as P. gingivalis and Veillonelia, were singnificantly different between test group and control group.
CONCLUSIONThe proportions of VSC's producing anaerobic bacteria in interdental gingival plaque may be play the significant roles in oral malodor. Further studies should be taken to elucidate the relationship between malodor and periodontitis.
Bacteria, Anaerobic ; classification ; Dental Plaque ; microbiology ; pathology ; Dental Plaque Index ; Gingiva ; microbiology ; pathology ; Halitosis ; microbiology ; Humans ; Odorants ; Periodontitis ; microbiology ; pathology

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