RESUMO
OBJECTIVE: Susceptibility to and severity of periodontal disease is influenced by gene polymorphisms related to the immune response. Co-stimulatory molecules, such as CD28 and CTLA-4, are critical in the development of such responses. Our hypothesis is that polymorphisms in genes that code for these molecules may be associated with periodontitis. The aim of the study was to investigate the association between +17 (T/C) CD28 and +49 (A/G) CTLA-4 gene polymorphisms and periodontitis in Brazilians. MATERIALS AND METHODS: Genomic DNA was obtained from oral swabs of 424 individuals categorized into three groups (control group, aggressive, and chronic periodontitis) considering clinical parameters such as probing depth and clinical attachment loss. The genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: There was an association between the T(-) genotype of the CD28 polymorphism and aggressive periodontitis (P = 0.04). Moreover, the A(+) genotype for CTLA-4 was associated with greater clinical attachment loss in non-smokers with aggressive periodontitis (P = 0.006, OR = 16.25, CI = 2.25-117.11). CONCLUSIONS: These findings show that T(-) in CD28 + 17 (T/C) and the A(+) in CTLA-4 +49 (A/G) genotypes are associated with susceptibility to aggressive periodontal disease. Thus, our study highlights these polymorphisms as potential genetic susceptibility markers of periodontitis in Brazilians.
Assuntos
Periodontite Agressiva/genética , Antígenos CD28/genética , Antígeno CTLA-4/genética , Polimorfismo Genético/genética , Adenina , Adolescente , Adulto , Idoso , Periodontite Agressiva/imunologia , Brasil , Periodontite Crônica/genética , Periodontite Crônica/imunologia , Citosina , DNA/análise , Feminino , Frequência do Gene/genética , Marcadores Genéticos/genética , Predisposição Genética para Doença/genética , Genótipo , Guanina , Humanos , Masculino , Pessoa de Meia-Idade , Perda da Inserção Periodontal/genética , Perda da Inserção Periodontal/imunologia , Bolsa Periodontal/genética , Bolsa Periodontal/imunologia , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição/genética , Fumar , Timina , Adulto JovemRESUMO
This study describes the oral and maxillofacial pathological characteristics of a series of odontogenic tumours in children and adolescents from three Brazilian reference centres. The records were reviewed for all odontogenic tumours in patients up to 18 years old based on criteria proposed by the World Health Organization (WHO) in 2005. Data concerning sex, age, skin colour and tumour location were collected and plotted. Four hundred and thirty one odontogenic tumours in children and adolescents were found, accounting for 37.5% of the total number of odontogenic tumours diagnosed. Benign tumours were predominant (99.8% of the cases), and odontoma was the most frequent type (41.4%), followed by keratocystic odontogenic tumours (25.5%) and ameloblastoma (14.6%). Odontogenic tumours were rarely detected in early childhood, and their prevalence increased with age. An almost equal distribution was observed with respect to sex and the site of the lesions. This study is the largest reported retrospective analysis describing odontogenic tumours in children and adolescents to date. The authors detected some variation in the relative frequency of odontogenic tumours compared with similar reports. Additional studies should be conducted based on the new WHO classification and predetermined age parameters to enable comparative analysis among different worldwide populations.
Assuntos
Tumores Odontogênicos/epidemiologia , Adolescente , Fatores Etários , Ameloblastoma/epidemiologia , Brasil/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Neoplasias Mandibulares/epidemiologia , Neoplasias Maxilares/epidemiologia , Odontoma/epidemiologia , Prevalência , Estudos Retrospectivos , Fatores SexuaisRESUMO
Central giant cell lesion (CGCL) is a reactive bone lesion that occurs mainly in the mandible, characterized by the multinucleated osteoclast-like giant cells in a background of oval to spindle-shaped mononuclear cells. The etiology is unknown and occurs more commonly in young adults. Cherubism, a rare disease found predominantly in females has histologic characteristics indistinguishable from those of CGCL and is caused by mutations mostly present in exon 9 of the SH3BP2 gene. In this study, we investigated four cases of CGCL and one case of cherubism. DNA was extracted from peripheral blood and tumor tissue and all coding and flanking regions of the SH3BP2 amplified by PCR and directly sequenced to identify underlying mutations. Two novel mutations were found; a heterozygous missense mutation c.1442A>T (Q481L) in exon 11 in one sporadic case of CGCL and a heterozygous germline and tumor tissue missense mutation c.320C>T (T107M) in exon 4 in one patient with cherubism. These findings open a new window to investigate the possible relationship between the pathogenesis of the cherubism and CGCL.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Querubismo/genética , Granuloma de Células Gigantes/genética , Doenças Maxilomandibulares/genética , Mutação/genética , Domínios de Homologia de src/genética , Adenina , Adulto , Criança , Citosina , Éxons/genética , Feminino , Mutação em Linhagem Germinativa/genética , Glutamina/genética , Heterozigoto , Humanos , Leucina/genética , Masculino , Metionina/genética , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/genética , Treonina/genética , Timina , Adulto JovemRESUMO
We describe an 8-year-old boy who presented with severe facial swelling. This progressed rapidly and 17 months later he died of gastrointestinal and pulmonary infections. The diagnosis was initially brown tumour associated with hyperparathyroidism, but this was revised in the light of laboratory investigations that were within the reference ranges, and normal appearance of the parathyroids on exploration to that of an extreme case of cherubism that behaved in a locally aggressive manner.
