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1.
Am J Hum Genet ; 101(1): 149-156, 2017 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-28686854

RESUMO

Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically. To date, four loci (2p22.1, 2p23.3-p22.3, 5q13-q22, and 11p15) have been mapped to autosomes and one gene (SOS1) has been associated with the HGF trait observed to segregate in a dominant inheritance pattern. Here we report 11 individuals with HGF from three unrelated families. Whole-exome sequencing (WES) revealed three different truncating mutations including two frameshifts and one nonsense variant in RE1-silencing transcription factor (REST) in the probands from all families and further genetic and genomic analyses confirmed the WES-identified findings. REST is a transcriptional repressor that is expressed throughout the body; it has different roles in different cellular contexts, such as oncogenic and tumor-suppressor functions and hematopoietic and cardiac differentiation. Here we show the consequences of germline final-exon-truncating mutations in REST for organismal development and the association with the HGF phenotype.


Assuntos
Éxons/genética , Fibromatose Gengival/genética , Predisposição Genética para Doença , Mutação/genética , Proteínas Repressoras/genética , Adolescente , Sequência de Bases , Segregação de Cromossomos/genética , Família , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem
2.
Ulus Travma Acil Cerrahi Derg ; 19(4): 299-304, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23884670

RESUMO

BACKGROUND: Metal alloys utilized in the management of jaw fractures may exert genotoxic effects. Our purpose was to compare the genotoxicity of intermaxillary fixation devices containing nickel and chromium to that of titanium miniplates utilized in treatment of jaw fractures through the analysis of sister chromatid exchange. METHODS: In this prospective study, in a total of 28 non-smoker patients (10 females, 18 males; mean age 33.43±10.76; range 15 to 60 years) with jaw fractures, 14 were treated with intermaxillary fixation by administration of nickel-chromium wire and arch bar and 14 with titanium miniplates to investigate the genotoxicity of different metal alloys. The outcome variable was the frequency of sister chromatide exchange in peripheral lymphoctyes, determined through the analysis of venous blood samples obtained preoperatively and 4 to 6 weeks postoperatively. RESULTS: The frequency of the average sister chromatid exchange was found to be significantly higher in patients treated with the nickel-chromium intermaxillary fixation devices than those treated by titanium miniplates (1.29±0.29 vs. 0.46±0.39, p<0.001). CONCLUSION: Although titanium miniplate osteosynthesis is an invasive technique in comparison with the nickel-chromium-containing intermaxillary fixation devices, titanium seems to exert less genotoxic effect than the nickel-chromium alloy. However, this finding should be supported in clinical studies with a larger sampling size.


Assuntos
Ligas de Cromo/efeitos adversos , Fixação Interna de Fraturas/efeitos adversos , Fixadores Internos/efeitos adversos , Fraturas Mandibulares/cirurgia , Troca de Cromátide Irmã/efeitos dos fármacos , Titânio/efeitos adversos , Adolescente , Adulto , Ligas de Cromo/administração & dosagem , Feminino , Humanos , Masculino , Fraturas Mandibulares/sangue , Fraturas Mandibulares/genética , Pessoa de Meia-Idade , Mutagênicos/administração & dosagem , Mutagênicos/efeitos adversos , Estudos Prospectivos , Titânio/administração & dosagem , Adulto Jovem
3.
Yonsei Med J ; 49(5): 742-7, 2008 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-18972594

RESUMO

PURPOSE: Non-steroidal anti-inflammatory drugs (NSAID) are frequently used in oral surgical procedures in dentistry. The evaluation of the frequency of sister chromatid exchange (SCE) is accepted as a reliable cytogenetic method to assess the genotoxic effects of environmental factors. MATERIALS AND METHODS: In this study, the genotoxic effects of various NSAIDs were assessed in 30 patients to who they were administered following encluosed third molar surgery using SCE analysis before and after the operation. The frequency of SCE was evaluated before the operation and after 3 days of etodolac, nimesulid and naproxen use. RESULTS: There was no statistically significant difference in the frequency of SCE between the preoperative and postoperative states in patients given etodolac, nimesulid or naproxen sodium. CONCLUSION: Short term use of selective and non-selective NSAIDs was not associated with a significant genotoxic effect that could be detected using the SCE method in peripheric lymphocytes.


Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Dente Serotino/cirurgia , Troca de Cromátide Irmã/efeitos dos fármacos , Adulto , Etodolac/efeitos adversos , Feminino , Humanos , Masculino , Testes de Mutagenicidade , Naproxeno/efeitos adversos , Estudos Prospectivos , Sulfonamidas/efeitos adversos
4.
J Neurosurg ; 103(3 Suppl): 285-8, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16238086

RESUMO

Juvenile hyaline fibromatosis (JHF) is a rare systemic disease characterized by papulonodular skin lesions, gingival hyperplasia, joint contractures, and osteolytic lesions on long bones and the skull. It has recently been reported that the disease is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG-2). To date, fewer than 60 cases have been published in the literature. Partial disease expression is common, but no cases featuring a solitary calvarial lesion have been reported. The authors discuss this 4-year-old boy with a solitary calvarial osteolytic lesion whose histopathological examination exhibited findings characteristic of JHF. Mutational analysis, however, revealed that there were no mutations in the CMG-2 gene. Two years after surgery, he was free of any complaints as well as gingival hyperplasia, joint contractures, and new skull or skin lesions. This patient's condition may represent clinical or genetic heterogeneity associated with JHF. Whether solitary lesions mimicking JHF can arise from somatic mutation of the CMG-2 gene remains to be proven.


Assuntos
Fibroma/complicações , Fibroma/patologia , Artropatias/etiologia , Crânio/patologia , Pré-Escolar , Contratura , Análise Mutacional de DNA , Hipertrofia Gengival/etiologia , Humanos , Masculino , Osteólise/etiologia
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