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
Health-related quality of life (QoL) has become increasingly important, but few studies have dealt with that of patients who have been treated for mandibular fractures. Our aim was to assess this. Patients with mandibular fractures (n=148) were studied prospectively and QoL after treatment was assessed using the General Oral Health Assessment Index (GOHAI). The male-female ratio was 8.3:1 and their ages ranged from 14 to 70 years. QoL after treatment of the fractures declined initially (on the first postoperative day) but thereafter improved steadily. There was no significant difference between the mean QoL of those treated by closed, and those treated with open, reduction. Limitations in the options of food to eat, and difficulty in chewing and swallowing, were identified as their most important concerns in the early postoperative period. The improvement in QoL after the first postoperative day was similar however the patients were treated.
Asunto(s)
Fracturas Mandibulares/psicología , Calidad de Vida , Adolescente , Adulto , Anciano , Analgésicos/uso terapéutico , Antibacterianos/uso terapéutico , Estudios Transversales , Deglución/fisiología , Ingestión de Alimentos/fisiología , Femenino , Estudios de Seguimiento , Fijación Interna de Fracturas/psicología , Humanos , Técnicas de Fijación de Maxilares/psicología , Masculino , Fracturas Mandibulares/cirugía , Masticación/fisiología , Persona de Mediana Edad , Dolor/psicología , Estudios Prospectivos , Rango del Movimiento Articular/fisiología , Adulto JovenRESUMEN
BACKGROUND:The aims of this study were to determine the pattern and frequency of oral lesions and to compare the prevalence of HIV-related oral lesions in paediatric Nigerian patients on HAART with those not on HAART.MATERIALS AND METHODS: All patients aged 15 years and below attending the Infectious Disease Clinic of Aminu Kano Teaching Hospital with a diagnosis of HIV were consecutively examined in a cross-sectional study over a 2-year period. Information was obtained by history, physical examinations, HIV testing, and enumeration of CD+ T cells. The results are presented. A P-value of <0.05 was considered significant.RESULTS:A total of 105 children comprising 63 males and 42 female who met the inclusion criteria participated in the study, mean age in months was 53.3±42.2, with a mean of 3.4±2.2 for male and 2.8±1.8 for female respectively. Oral lesions occurred in 61.9% of the children Overall, 22 (21.0%) had at least one oral lesion, 43 (41.0%) had multiple lesion. The most common lesion was oral candidiasis (79.1%). The angular cheilitis (43.8%) variant was most frequent. The mean CD4 counts were 1138 cells/mm(3), 913 cells/mm(3) and 629 cells/mm(3) for those without oral lesion, with single lesion and multiple oral lesions respectively. These differences were not statistically significant (ANOVA: F=0.185, df=2, 80, 82, P=0.831. Patients on HAART comprised about 61.9% and these were found to have reduced risk for development of such oral lesions as angular cheilitis (OR=0.76; 95% CI=0.56-1.02; P=0.03), pseudomembranous candidiasis (OR=0.71; 95% CI=0.54-0.94; P=0.024) and HIV-gingivitis (OR=0.59; 95% CI=0.46-0.75; P=0.001). HAART had some beneficial but insignificant effect on development of HIV-periodonttitis (OR=0.60; 95% CI=0.51-0.70; P=0.09). The chances of occurrence of other oral lesions were not significantly reduced by HAART (Kaposi sarcoma, OR=1.24; 95% CI=0.31-5.01; P=0.47, erythematous candidiasis, OR=1.13; 95% CI=0.62-2.06).CONCLUSION: HIV-related Oral lesions are frequently seen in HIV-infected Nigerian children. Paediatric patients receiving HAART had significantly lower prevalence of oral lesions, particularly oral candidiasis and HIV-gingivitis