Clinical and genetic analysis of patients with cherubism.

Abstract:

OBJECTIVE:To describe the clinical and genetic features of patients with cherubism. MATERIAL AND METHODS:A descriptive analysis of 14 cases from nine different families was carried out. Clinicopathological, imaging, and follow-up data were retrieved from patients' medical files and correlated with the genetic profile of each patient. Genomic DNA isolated from buccal mucosa cells was subjected to direct sequencing analysis of the SH3BP2 gene. RESULTS:Females were more affected than males (8:6), and the mean age at diagnosis was 8.6 years (range 3-30 years). Eleven patients exhibited simultaneous bilateral involvement of the maxilla and mandible. Two patients did not have a familial history of cherubism. Progressive growth pattern was found in six patients and stable lesions were observed in other seven patients, whereas in one patient, complete spontaneous remission was documented during the follow-up (31 years). Mutations were found in 13 cases and included the typical heterozygous missense mutations R415Q, P418T, and P418H at exon 9 of SH3BP2. No correlation between the mutations and the clinical manifestations was observed. CONCLUSION:Three different point mutations in the SH3BP2 gene were detected with variable clinical involvement. Genotype-phenotype association studies in larger population with cherubism are necessary to provide important knowledge about molecular mechanisms related to the disease.

journal_name

Oral Dis

journal_title

Oral diseases

authors

Machado RA,Pontes H,Pires FR,Silveira HM,Bufalino A,Carlos R,Tuji FM,Alves D,Santos-Silva AR,Lopes MA,Capistrano HM,Coletta RD,Fonseca FP

doi

10.1111/odi.12705

subject

Has Abstract

pub_date

2017-11-01 00:00:00

pages

1109-1115

issue

8

eissn

1354-523X

issn

1601-0825

journal_volume

23

pub_type

杂志文章
  • A comparative study of epithelial cell proliferation between the odontogenic keratocyst, orthokeratinized odontogenic cyst, dentigerous cyst, and ameloblastoma.

    abstract:OBJECTIVES:The aim of the present study was to compare the proliferation index of the epithelial cells between odontogenic keratocysts (OKC), orthokeratinized odontogenic cysts (OOC), dentigerous cysts (DC), and ameloblastomas. MATERIALS AND METHODS:The proliferation index, employing a novel cell proliferation marker ...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1046/j.1354-523x.2003.00974.x

    authors: Thosaporn W,Iamaroon A,Pongsiriwet S,Ng KH

    更新日期:2004-01-01 00:00:00

  • Cheese supplemented with probiotics reduced the Candida levels in denture wearers-RCT.

    abstract:OBJECTIVES:The access to probiotics should be facilitated in order to encourage their usage. We evaluated the effect of consumption of two experimental probiotic-containing cheeses on the oral colonization of Candida in denture wearers. METHODS:Sixty denture wearers harboring oral Candida were randomly allocated in gr...

    journal_title:Oral diseases

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/odi.12669

    authors: Miyazima TY,Ishikawa KH,Mayer M,Saad S,Nakamae A

    更新日期:2017-10-01 00:00:00

  • CD10 expression in stromal cells of oral cavity squamous cell carcinoma: a clinic and pathologic correlation.

    abstract:OBJECTIVE:CD10 is expressed on the majority of follicle-center lymphomas and Burkitt lymphomas. CD10 has also been shown to be present in a variety of other neoplasms. DESIGN:The aim of this study was a correlation of CD10 and several parameters: age, tumor size, presence of lymph node metastases, clinic stage, histol...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/j.1601-0825.2005.01196.x

    authors: Piattelli A,Fioroni M,Iezzi G,Perrotti V,Stellini E,Piattelli M,Rubini C

    更新日期:2006-05-01 00:00:00

  • HIV diagnosis and testing: what every healthcare professional can do (and why they should).

    abstract::Over the last thirty years, the human immunodeficiency virus (HIV) epidemic has matured. In the United States, HIV has changed from an explosive outbreak to an endemic disease; currently, an estimated 1.1 million people are infected with HIV, including a substantial number who are unaware of their status. With recent ...

    journal_title:Oral diseases

    pub_type: 杂志文章,评审

    doi:10.1111/odi.12047

    authors: Wilson E,Tanzosh T,Maldarelli F

    更新日期:2013-07-01 00:00:00

  • Periodontitis aggravates renal inflammatory response in a mouse model of renal fibrosis.

    abstract:OBJECTIVES:To assess the effects of periodontitis on renal interstitial fibrosis in a mouse model. MATERIALS AND METHODS:Thirty C57BL/6 male mice were divided into control, periodontitis (PD), unilateral ureteral ligation (UUO) and PD+UUO groups. Unilateral ureteral ligation was performed 6 days after periodontitis. A...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/odi.13764

    authors: Bi C,Han XL,Li XZ,Sun JY,Liu Y,Duan SZ,Lu HX

    更新日期:2020-12-31 00:00:00

  • Evidence for local production of antibodies to auto and non-self antigens in periodontal disease.

    abstract:UNLABELLED:Autoimmune mechanisms may contribute to periodontal disease (PD) pathogenesis; autoantibody to collagen type 1 is produced at the periodontal site and local levels are found to be higher than in serum. OBJECTIVES:To find any evidence of autoimmune destruction in diseased periodontal tissues in patients with...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1046/j.1354-523x.2003.00961.x

    authors: Rajapakse PS,Dolby AE

    更新日期:2004-03-01 00:00:00

  • Dental panoramic radiographic evaluation in bisphosphonate-associated osteonecrosis of the jaws.

    abstract:OBJECTIVES:To determine the extent to which clinical and radiographic features of bisphosphonate-associated osteonecrosis of the jaw (BONJ) are correlated. DESIGN:Retrospective case review. METHODS:The records of 39 patients diagnosed with BONJ and examined by panoramic radiography were retrospectively evaluated. The...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/j.1601-0825.2008.01494.x

    authors: Treister N,Sheehy N,Bae EH,Friedland B,Lerman M,Woo S

    更新日期:2009-01-01 00:00:00

  • Computer-assisted analysis of immunohistological parameters in oral giant cell granulomas.

    abstract:OBJECTIVE:The aim of this study was to examine the relationship between active osteoclasts, as defined by positive nuclear NFATc1 signals, and the clinical behaviors of oral giant cell granulomas. MATERIALS AND METHODS:NFATc1 immunohistochemical and TRAP-Cbfa1 double immunofluorescence stainings were performed on 9 ca...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/odi.13022

    authors: Yoon JH,Li M,Basile JR,Lin YL

    更新日期:2019-04-01 00:00:00

  • Tumour necrosis factor-alpha gene polymorphisms and susceptibility to oral lichen planus.

    abstract:OBJECTIVE: This study is aimed to investigate the association between OLP susceptibility and clinical type in the Thai population and three polymorphisms within the promoter region of the TNF-α at positions -863, -308 and -238 which have putative functional significances. MATERIALS AND METHODS: Genomic DNA from 75 Tha...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/j.1601-0825.2010.01722.x

    authors: Kimkong I,Hirankarn N,Nakkuntod J,Kitkumthorn N

    更新日期:2011-03-01 00:00:00

  • Collagenases and tissue inhibitors of metalloproteinases: a functional balance in tissue degradation.

    abstract:BACKGROUND:Members of the family of matrix metalloproteinases (MMPs; also called collagenases or matrixins) are key enzymes in matrix degradation. They function at neutral pH and can digest synergistically all the matrix macromolecules. Biochemical and clonal studies indicate that there are three major groups: the spec...

    journal_title:Oral diseases

    pub_type: 杂志文章,评审

    doi:10.1111/j.1601-0825.1996.tb00206.x

    authors: Reynolds JJ

    更新日期:1996-03-01 00:00:00

  • Periodontitis and respiratory diseases: A systematic review with meta-analysis.

    abstract:OBJECTIVE:To conduct a systematic review and meta-analysis to evaluate the recent scientific literature addressing the association between periodontitis and asthma, chronic obstructive pulmonary disease (COPD), and pneumonia. MATERIALS AND METHODS:The search for studies was carried out using MEDLINE/PubMed, EMBASE, Li...

    journal_title:Oral diseases

    pub_type: 杂志文章,meta分析

    doi:10.1111/odi.13228

    authors: Gomes-Filho IS,Cruz SSD,Trindade SC,Passos-Soares JS,Carvalho-Filho PC,Figueiredo ACMG,Lyrio AO,Hintz AM,Pereira MG,Scannapieco F

    更新日期:2020-03-01 00:00:00

  • Relationship between periodontal disease and male infertility: A case-control study.

    abstract:OBJECTIVES:To compare the prevalence of chronic periodontitis between men who had semen abnormalities and those who had normozoospermia through a case-control study. MATERIALS AND METHODS:Male patients who visited the assisted reproduction clinic of a large general hospital and were diagnosed with semen abnormalities ...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/odi.13552

    authors: Tao DY,Zhu JL,Xie CY,Kuang YP,Chai WR,Lo ECM,Ye W,Li F,Feng XP,Lu HX

    更新日期:2020-07-23 00:00:00

  • Arecoline-stimulated placenta growth factor production in gingival epithelial cells: modulation by curcumin.

    abstract:OBJECTIVE:Placenta growth factor (PlGF) is associated with the progression and prognosis of oral cancer. MATERIALS AND METHODS:This study used ELISA, quantitative polymerase chain reaction, and Western blotting to study the arecoline-stimulated (PlGF) protein or mRNA expression in human gingival epithelial S-G cells. ...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/odi.12034

    authors: Cheng SJ,Ko HH,Cheng SL,Lee JJ,Chen HM,Chang HH,Kok SH,Kuo MY,Chiang CP

    更新日期:2013-07-01 00:00:00

  • FOXP3 T regulatory cells in lesions of oral lichen planus correlated with disease activity.

    abstract:OBJECTIVE:The aim of this study was to determine the correlation between the number of FOXP3(+) T cell in lesions and the disease activity of patients with oral lichen planus (OLP). MATERIALS AND METHODS:The expression of FOXP3 was investigated using immunohistochemical staining and real-time RT-PCR in 23 OLP lesions ...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/j.1601-0825.2009.01608.x

    authors: Tao XA,Xia J,Chen XB,Wang H,Dai YH,Rhodus NL,Cheng B

    更新日期:2010-01-01 00:00:00

  • Diagnostic profiling of salivary exosomal microRNAs in oral lichen planus patients.

    abstract:OBJECTIVE:Oral lichen planus is a chronic inflammatory oral mucosal disease whose exact cause is unclear and which requires efficient diagnostic and therapeutic strategies. Identification of disease-specific biomarkers in saliva is an easy, quick, and non-invasive approach for molecular diagnosis. This study was design...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/odi.12374

    authors: Byun JS,Hong SH,Choi JK,Jung JK,Lee HJ

    更新日期:2015-11-01 00:00:00

  • Sentinels and signposts: the epidemiology and significance of the oral manifestations of HIV disease.

    abstract::A large number of studies attest to the frequency of oral disease in those with HIV infection. Most show that hairy leukoplakia and pseudomembranous candidiasis are the commonest lesions in those with HIV infection and AIDS, with higher prevalence and incidence rates correlating with falling CD4 counts and disease pro...

    journal_title:Oral diseases

    pub_type: 杂志文章,评审

    doi:10.1111/j.1601-0825.1997.tb00344.x

    authors: Greenspan JS

    更新日期:1997-05-01 00:00:00

  • Mucoepidermoid carcinoma of minor salivary glands: a clinical study of 16 cases and review of the literature.

    abstract:OBJECTIVE:Mucoepidermoid carcinoma (MEC) is the most common malignant tumor of salivary glands with a widely diverse biologic behavior that is correlated with the histological grade of the tumor. The purpose of this study was to evaluate the clinical outcomes of MEC of minor salivary glands in a group of 16 patients, w...

    journal_title:Oral diseases

    pub_type: 杂志文章,评审

    doi:10.1111/j.1601-0825.2005.01166.x

    authors: Triantafillidou K,Dimitrakopoulos J,Iordanidis F,Koufogiannis D

    更新日期:2006-07-01 00:00:00

  • Toward gene therapy for growth hormone deficiency via salivary gland expression of growth hormone.

    abstract:OBJECTIVES:Salivary glands are useful targets for gene therapeutics. After gene transfer into salivary glands, regulated secretory pathway proteins, such as human growth hormone, are secreted into saliva, whereas constitutive secretory pathway proteins, such as erythropoietin, are secreted into the bloodstream. Secreti...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/odi.12217

    authors: Racz GZ,Zheng C,Goldsmith CM,Baum BJ,Cawley NX

    更新日期:2015-03-01 00:00:00

  • Stimulatory response of neutrophils from periodontitis patients with periodontal pathogens.

    abstract:OBJECTIVE:Neutrophils play a crucial role in the defense of invading bacteria by releasing biologically active molecules. The response of peripheral blood neutrophils was studied in periodontitis-affected patients and in healthy controls towards stimulation to Porphyromonas gingivalis (Pg) and Actinobacillus actinomyce...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/j.1601-0825.2006.01323.x

    authors: Restaíno CG,Chaparro A,Valenzuela MA,Kettlun AM,Vernal R,Silva A,Puente J,Jaque MP,León R,Gamonal J

    更新日期:2007-09-01 00:00:00

  • Lessons learned from the INHANCE consortium: An overview of recent results on head and neck cancer.

    abstract:OBJECTIVE:To summarize the latest evidence on head and neck cancer epidemiology from the International Head and Neck Cancer Epidemiology (INHANCE) consortium. SUBJECTS AND METHODS:INHANCE was established in 2004 to elucidate the etiology of head and neck cancer through pooled analyses of individual-level data on a lar...

    journal_title:Oral diseases

    pub_type: 杂志文章,评审

    doi:10.1111/odi.13502

    authors: Bravi F,Lee YA,Hashibe M,Boffetta P,Conway DI,Ferraroni M,La Vecchia C,Edefonti V,INHANCE Consortium investigators.

    更新日期:2021-01-01 00:00:00

  • Metabolic hormones in saliva: origins and functions.

    abstract::The salivary proteome consists of thousands of proteins, which include, among others, hormonal modulators of energy intake and output. Although the functions of this prominent category of hormones in whole body energy metabolism are well characterized, their functions in the oral cavity, whether as a salivary componen...

    journal_title:Oral diseases

    pub_type: 杂志文章,评审

    doi:10.1111/odi.12015

    authors: Zolotukhin S

    更新日期:2013-04-01 00:00:00

  • Oral manifestation of sporotrichosis in AIDS patients.

    abstract::A wide spectrum of oral lesions has been associated with human immunodeficiency viral infection (HIV), or AIDS. This report describes the case of an HIV-infected patient who developed a case of disseminated sporotrichosis whose first clinical sign was the presence of orofacial lesions. A histopathological study of thi...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:

    authors: Aarestrup FM,Guerra RO,Vieira BJ,Cunha RM

    更新日期:2001-03-01 00:00:00

  • Involvement of transient receptor potential vanilloid 2 in intra-oral incisional pain.

    abstract:OBJECTIVE:To examine whether transient receptor potential vanilloid 2 (TRPV2) contributes to the changes in intra-oral thermal and mechanical sensitivity following the incision of buccal mucosa. MATERIALS AND METHODS:Buccal mucosal pain threshold was measured after the incision. Changes in the number of TRPV2-immunore...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/odi.12853

    authors: Urata K,Shinoda M,Ikutame D,Iinuma T,Iwata K

    更新日期:2018-09-01 00:00:00

  • Functional variants of IL4 and IL6 genes and risk of tobacco-related oral carcinoma in high-risk Asian Indians.

    abstract:BACKGROUND:Tobacco-related oral squamous cell carcinoma (OSCC) is one of the most common cancers involving Indian males. We assessed the association of IL4 promoter -589 T>C, -33 T>C, and IL6-174 G>C functional genetic polymorphisms with tobacco-related OSCC in Asian Indians. PATIENTS AND METHODS:The IL4 and IL6 promo...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/j.1601-0825.2011.01831.x

    authors: Gaur P,Mittal M,Mohanti B,Das S

    更新日期:2011-10-01 00:00:00

  • Individual and contextual determinants of dental pain in adolescents: Evidence from a national survey.

    abstract:OBJECTIVE:To investigate the prevalence of dental pain among adolescent students and its association with individual, school and city variables, using a multilevel approach. SUBJECTS AND METHODS:Individual and school data were obtained from the National Adolescent School-Based Health Survey (PeNSE) conducted in Brazil...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/odi.13100

    authors: Freire MCM,Nery NG,Jordão LMR,Abreu MHNG

    更新日期:2019-07-01 00:00:00

  • Photobiomodulation therapy inhibits oral submucous fibrosis in mice.

    abstract:OBJECTIVES:Oral submucous fibrosis (OSMF) is a chronic inflammatory disease and a potentially malignant oral disorder. However, the best therapeutic treatment for OSMF remains uncertain. Our previous study showed that photobiomodulation (PBM) therapy and forskolin could reduce arecoline-induced fibrosis reactions via t...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/odi.13409

    authors: Chiang MH,Lee KT,Chen CH,Chen KK,Wang YH

    更新日期:2020-10-01 00:00:00

  • Oral health of patients with hepatitis C virus infection: a pilot study.

    abstract:OBJECTIVES:This study examined the oral health of a cohort of hepatitis C virus (HCV) patients. In particular, the prevalence of lichen planus and xerostomia were determined. Experiences of discrimination against HCV-infected patients by their dentists were also recorded. METHODS:Forty patients infected with HCV, who ...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1034/j.1601-0825.2001.00695.x

    authors: Henderson L,Muir M,Mills PR,Spence E,Fox R,McCruden EA,Bagg J

    更新日期:2001-09-01 00:00:00

  • The effect of commercially available saliva substitutes on predemineralized bovine dentin in vitro.

    abstract:OBJECTIVE:The objective of this study was to evaluate the effects of various saliva substitutes (Artisial; Glandosane; Oralube; Saliva medac; Oralbalance) on the lesion depth and the mineral content of predemineralized bovine dentin in vitro. MATERIALS AND METHODS:Ninety-six dentin samples were prepared from 24 freshl...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1034/j.1601-0825.2002.01762.x

    authors: Meyer-Lueckel H,Schulte-Mönting J,Kielbassa AM

    更新日期:2002-07-01 00:00:00

  • Immunocompetent cells in oral candidiasis of HIV-infected patients: an immunohistochemical and electron microscopical study.

    abstract:OBJECTIVE:The purpose of this study was to elucidate the pathogenesis of oral candidiasis, a common cause of discomfort and social impairment among HIV-infected individuals. STUDY DESIGN, MATERIALS AND METHODS:The oral mucosal immune system cells were analysed by immunohistochemistry and electron microscopy in biopsie...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/j.1601-0825.1997.tb00020.x

    authors: Romagnoli P,Pimpinelli N,Mori M,Reichart PA,Eversole LR,Ficarra G

    更新日期:1997-06-01 00:00:00

  • Effects of bisphosphonate on the mandible of rats in the growing phase with steroid-induced osteoporosis.

    abstract:AIM:The objective of this study was to investigate the effects of bisphosphonate on the mandible of rats in the growing phase with steroid-induced osteoporosis, and to estimate the biomechanical response in the mandibular bone. MATERIALS AND METHODS:Eight-week-old male Wistar rats (n = 50) were assigned to a 6-week co...

    journal_title:Oral diseases

    pub_type: 杂志文章

    doi:10.1111/j.1601-0825.2006.01331.x

    authors: Kimura E,Nishioka T,Hasegawa K,Maki K

    更新日期:2007-11-01 00:00:00