RESUMEN
The purpose of this study was to determine the accuracy of autofluorescence techniques for diagnosing oral mucosa lesions, using as reference pattern for comparison the visual diagnosis made by a clinical specialist. A pilot study was conducted with 60 patients divided in a control group without mucosal pathology and a study group with known clinical history for mucosal pathology. Both groups were examined by an oral medicine specialist and by a general dentist who used VELscope(r) system, which applies tissue fluorescence visualization to identify oral mucosal abnormalities. Using the VELscope(r) system, the general dentist made overdiagnosis in two cases and underdiagnosis in one case. The sensitivity and specificity for the oral medicine specialist were 1 (95% CI: 0.884 to 1). For the general dentist, the sensitivity did not improve significantly with the use of VELscope(r) system [0.53 (95% CI: 0.343 to 0.717) versus 0.49 (95% CI: 0.406 to 0.773)] and the specificity was 0.80 (95% CI: 0.614 to 0.923). A limitation of the study is the small sample size, which does not fully represent a population and extrapolation of the data should be done carefully. Based on the obtained results, no clinical benefits were obtained using this VELscope(r) system.
Resumo O objetivo deste estudo foi determinar a precisão das técnicas de autofluorescência para o diagnóstico de lesões da mucosa oral, utilizando como padrão de referência para comparação o diagnóstico visual feito por um especialista clínico. Um estudo piloto foi realizado com 60 pacientes, divididos em um grupo controle sem patologia da mucosa oral e um grupo de estudo com história clínica conhecida de patologia da mucosa oral. Ambos os grupos foram examinados por um especialista em medicina oral e por um dentista clínico geral que usou o sistema VELscope(r), que aplica a visualização por fluorescência para identificar anormalidades do tecido da mucosa oral. Usando o sistema VELscope(r), o dentista geral realizou sobrediagnóstico em dois casos e subdiagnóstico em um caso. A sensibilidade e especificidade para o especialista em medicina oral foi 1 (IC 95%: 0,884 a 1). Para o dentista geral, a sensibilidade não melhorou significativamente com o uso do sistema de VELscope(r) [0,53 (95% CI: 0,343 to 0,717) versus 0,49 (95% CI: 0,406 to 0,773)], e a especificidade foi de 0,80 (IC de 95% : 0,614-0,923). Uma limitação do estudo é o pequeno tamanho da amostra, que não representa totalmente a população e a extrapolação dos dados deve ser feita com cuidado. Com base nos resultados obtidos, não houve benefícios clínicos com o uso do sistema VELscope(r).
Asunto(s)
Humanos , Mucosa Bucal/patología , Estudios de Casos y Controles , Proyectos PilotoRESUMEN
The purpose of this study was to determine the accuracy of autofluorescence techniques for diagnosing oral mucosa lesions, using as reference pattern for comparison the visual diagnosis made by a clinical specialist. A pilot study was conducted with 60 patients divided in a control group without mucosal pathology and a study group with known clinical history for mucosal pathology. Both groups were examined by an oral medicine specialist and by a general dentist who used VELscope(r) system, which applies tissue fluorescence visualization to identify oral mucosal abnormalities. Using the VELscope(r) system, the general dentist made overdiagnosis in two cases and underdiagnosis in one case. The sensitivity and specificity for the oral medicine specialist were 1 (95% CI: 0.884 to 1). For the general dentist, the sensitivity did not improve significantly with the use of VELscope(r) system [0.53 (95% CI: 0.343 to 0.717) versus 0.49 (95% CI: 0.406 to 0.773)] and the specificity was 0.80 (95% CI: 0.614 to 0.923). A limitation of the study is the small sample size, which does not fully represent a population and extrapolation of the data should be done carefully. Based on the obtained results, no clinical benefits were obtained using this VELscope(r) system.
Asunto(s)
Mucosa Bucal/patología , Estudios de Casos y Controles , Humanos , Proyectos PilotoRESUMEN
Cornelia de Lange Syndrome (CdLS) is a congenital autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder characterized by facial dysmorphism, pre and postnatal growth retardation, developmental delay and/or intellectual disability, and multiorgan involvement. Musculoskeletal malformations are usually bilateral and affect mainly the upper limbs; the range goes from brachyclinodactyly to severe reduction defects. Instead lower extremities are usually less and mildly involved. Here, we report on a 3-year-old Senegalese boy with typical craniofacial CdLS features, pre and postnatal growth retardation, atrial septal defect, developmental delay and right ipsilateral limb malformations, consistent with oligodactyly of the 3rd and 4th fingers, tibial agenesis and fibula hypoplasia. Exome sequencing and Sanger sequencing showed a novel missense mutation in NIPBL gene (c.6647A>G; p.(Tyr2216Cys)), which affects a conserved residue located within NIPBL HEAT repeat elements. Pyrosequencing analysis of NIPBL gene, disclosed similar levels of wild-type and mutated alleles in DNA and RNA samples from all tissues analyzed (oral mucosa epithelial cells, peripheral blood leukocytes and fibroblasts). These findings indicated the absence of somatic mosaicism, despite of the segmental asymmetry of the limbs, and confirmed biallelic expression for NIPBL transcripts, respectively. Additionally, conditions like Split-hand/foot malformation with long-bone deficiency secondary to duplication of BHLHA9 gene have been ruled out by the array-CGH and MLPA analysis. To our knowledge, this is the first CdLS patient described with major ipsilateral malformations of both the upper and lower extremities, that even though this finding could be due to a random event, expands the spectrum of limb reduction defects in CdLS.