Bocas sanas: hacia un nuevo horizonte en los modelos de atención en odontología

El presente trabajo aborda una problemática del Subsector Público Municipal de la Ciudad de Córdoba, dentro del Sistema de Salud en Argentina, más precisamente, en el Centro de Atención Primaria de la Salud N° 33, perteneciente al Barrio de Argüello. Frente a la evidencia del impacto en el perfil epidemiológico del componente bucal de la Salud y enfermedades humanas, se ha relevado la necesidad de analizar el modelo de atención Odontológica qué prestó dicho servicio. Para ello se realizó un estudio cuantitativo, según el alcance descriptivo de diseño transversal, y en relación al tiempo retrospectivo de enero a diciembre de 2012. Mediante los datos recogidos, pudo observarse que el modelo de atención Odontológica para el Centro en estudio, durante el año 2012, tuvo un enfoque curativo tradicional. Dicho enfoque no permite resolver los problemas del componente bucal de la Salud, por lo que surge la necesidad de identificar y evitar errores en los procesos de atención, utilizando como instrumento novedoso la gestión de riesgo. Mediante líneas o estrategias de intervención, se proyecta implementar un nuevo modelo, basado en una cultura de seguridad del paciente, pensando en el cuidado de la Salud, y adecuado a las necesidades de la población, privilegiando el acceso, la promoción de la Salud y la prevención de enfermedades bucales.

This paper addresses a problem of Municipal Public Subsector Health System in Argentina, Córdoba City, more precisely in a Primary Health Care N° 33, belonging to the Neighborhood Argüello. Faced with the evidence of the impact on the epidemiological profile of the oral health component of human diseases, has relieved the need to analyze the model of Dental Care was provided in that service. This quantitative study was conducted according to the scope of cross-sectional descriptive and retrospective time compared to January to December 2012. Through the data gathered, the model was observed for Dental Care for the study center during 2012, presented a traditional curative care approach. These approach cannot solve the problems of oral health component, so there is a need to identify and prevent mistakes in processes of care, using new risk management tool and implement a new model by lines or strategies intervention based on a culture of patient safety, health planning, and appropriate to the needs of the population, favoring access, promotion of health and prevention of oral diseases.

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.

Mutations in the FBN1 gene are the major cause of Marfan syndrome (MFS), an autosomal dominant connective tissue disorder, which displays variable manifestations in the cardiovascular, ocular, and skeletal systems. Current molecular genetic testing of FBN1 may miss mutations in the promoter region or in other noncoding sequences as well as partial or complete gene deletions and duplications. In this study, we tested for copy number variations by successively applying multiplex ligation-dependent probe amplification (MLPA) and the Affymetrix Human Mapping 500 K Array Set, which contains probes for approximately 500,000 single-nucleotide polymorphisms (SNPs) across the genome. By analyzing genomic DNA of 101 unrelated individuals with MFS or related phenotypes in whom standard genetic testing detected no mutation, we identified FBN1 deletions in two patients with MFS. Our high-resolution approach narrowed down the deletion breakpoints. Subsequent sequencing of the junctional fragments revealed the deletion sizes of 26,887 and 302,580 bp, respectively. Surprisingly, both deletions affect the putative regulatory and promoter region of the FBN1 gene, strongly indicating that they abolish transcription of the deleted allele. This expectation of complete loss of function of one allele, i.e. true haploinsufficiency, was confirmed by transcript analyses. Our findings not only emphasize the importance of screening for large genomic rearrangements in comprehensive genetic testing of FBN1 but, importantly, also extend the molecular etiology of MFS by providing hitherto unreported evidence that true haploinsufficiency is sufficient to cause MFS.