RESUMEN
BACKGROUND: Orofacial clefts are the most common malformations of the head and neck, with a worldwide prevalence of 1 in 700 births. They are commonly divided into CL(P) and CP based on anatomic, genetic, and embryologic findings. A Nigerian craniofacial anomalies study (NigeriaCRAN) was set up in 2006 to investigate the role of gene-environment interaction in the origin of orofacial clefts in Nigeria. SUBJECTS AND METHODS: DNA isolated from saliva from Nigerian probands was used for genotype association studies and direct sequencing of cleft candidate genes: MSX1 , IRF6 , FOXE1, FGFR1 , FGFR2 , BMP4 , MAFB, ABCA4 , PAX7, and VAX1 , and the chromosome 8q region. RESULTS: A missense mutation A34G in MSX1 was observed in nine cases and four HapMap controls. No other apparent causative variations were identified. Deviation from Hardy Weinberg equilibrium (HWE) was observed in these cases (p = .00002). A significant difference was noted between the affected side for unilateral CL (p = .03) and bilateral clefts and between clefts on either side (p = .02). A significant gender difference was also observed for CP (p = .008). CONCLUSIONS: Replication of a mutation previously implicated in other populations suggests a role for the MSX1 A34G variant in the development of CL(P).
Asunto(s)
Población Negra/genética , Labio Leporino/genética , Fisura del Paladar/genética , Factor de Transcripción MSX1/genética , Mutación Missense/genética , Estudios de Casos y Controles , Niño , Preescolar , Labio Leporino/epidemiología , Fisura del Paladar/epidemiología , Femenino , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Nigeria/epidemiología , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADNRESUMEN
OBJECTIVE: To present the clinical spectrum of malignant neoplasms detected after extraction of teeth. DESIGN: Retrospective study. SETTING: Department of Oral and Maxillofacial Surgery, University of Benin Teaching Hospital, Nigeria. MAIN OUTCOME MEASURES: Demographic and clinical data of patients diagnosed with malignant neoplasms related to a history of tooth extraction. RESULTS: Twelve patients with histopathologically confirmed tumours detected after extraction of teeth were studied. There were 11 males and one female giving a male to female ratio of 11:1. They ranged in age from 15-85 years with a mean age of 53 years. Pain and swelling were the most common presenting complaints. The mandible was more often involved seven (58.3%) cases while five (41.7%) cases occurred in the maxilla. Squamous cell carcinoma (in 9 cases) was the most common malignant neoplasm among these patients. CONCLUSION: Malignant tumours can mimic periapical infections necessitating a high index of suspicion when faced with toothache of uncertain cause.