Prediction of human pigmentation traits, one of the most differentiable externally visible characteristics among individuals, from biological samples represents a useful tool in the field of forensic DNA phenotyping. In spite of freckling being a relatively common pigmentation characteristic in Europeans, little is known about the genetic basis of this largely genetically determined phenotype in southern European populations. In this work, we explored the predictive capacity of eight freckle and sunlight sensitivity-related genes in 458 individuals (266 non-freckled controls and 192 freckled cases) from Spain. Four loci were associated with freckling (MC1R, IRF4, ASIP and BNC2), and female sex was also found to be a predictive factor for having a freckling phenotype in our population. After identifying the most informative genetic variants responsible for human ephelides occurrence in our sample set, we developed a DNA-based freckle prediction model using a multivariate regression approach. Once developed, the capabilities of the prediction model were tested by a repeated 10-fold cross-validation approach. The proportion of correctly predicted individuals using the DNA-based freckle prediction model was 74.13%. The implementation of sex into the DNA-based freckle prediction model slightly improved the overall prediction accuracy by 2.19% (76.32%). Further evaluation of the newly-generated prediction model was performed by assessing the model's performance in a new cohort of 212 Spanish individuals, reaching a classification success rate of 74.61%. Validation of this prediction model may be carried out in larger populations, including samples from different European populations. Further research to validate and improve this newly-generated freckle prediction model will be needed before its forensic application. Together with DNA tests already validated for eye and hair colour prediction, this freckle prediction model may lead to a substantially more detailed physical description of unknown individuals from DNA found at the crime scene.
Desde su invención a principios del siglo XX por Hans Christian Jacobaeus, la artroscopia ha supuesto un cambio radical en el tratamiento de muchas patologías en el campo de la Cirugía Ortopédica y la Traumatología. Para poder llevarla a cabo, se necesitan tanto materiales que permi-tan el acceso al interior de la articulación (bisturís, agujas, fuentes de luz, etc), como utensilios que permitan tratar la lesión en cuestión (pinzas, motores, vaporizadores, etc). Un elemento fundamen-tal en este procedimiento será la torre de artroscopia. Por sus características, la artroscopia se bene-ficia de las ventajas de la cirugía mínimamente invasiva, minimizando el dolor y la agresión quirúr-gica, las complicaciones postoperatorias o la estancia hospitalaria, entre otros. No obstante, hay que tener en cuenta su dificultad técnica y la necesidad de una curva de aprendizaje. En el presente trabajo, pretendemos realizar un barrido por los puntos básicos más importantes que componen este procedimiento de diagnóstico y tratamiento de la patología articular, desde su definición hasta sus beneficios y modalidades.
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