RESUMEN
Introduction: The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%-60% of patients with pigmentary mosaicism, and in more than 80%, chromosomal abnormalities are present in the mosaic state. In patients with pigmentary mosaicism the most representative chromosomes involved in sSMCs are 3, 5, 6, 9, 10, 13, 15, 18, 20, and X. In this study, we included the complete clinical, cytogenetic, and molecular characterization of seven patients with pigmentary mosaicism associated with the presence of SMCs of different chromosomal origins. Methods: The patients were diagnosed by the Genetics and Dermatology Department of three different hospitals. Cytogenetic and FISH analyses were performed on peripheral blood, light skin, and dark skin. FISH analysis was performed using different probes, depending on the marker chromosome description. Different array analysis was performed. Results: To date, of the seven cases studied, the chromosomal origins of six were successfully identified by FISH or array analysis. The chromosomes involved in SMCs were 6, 9, 15, and 18, X. The most frequently found was the centric minute structure. Discussion: To date, this group of seven patients constitutes the largest clinical and cytogenetically finely described study of cases with pigmentary mosaicism associated with sSMCs. Undoubtedly, analysis of the two skin types is a fundamental part of our study, as numerical differences may occur in the cell lines found in each skin type. The knowledge generated in this study will help delineate a very heterogeneous entity more accurately, and in the future, analyzing more patients with PM will likely establish a more definite association with the presence of this genetic alteration.
Asunto(s)
Humanos , Masculino , Preescolar , Infecciones por Protozoos/diagnóstico , Líquido del Lavado Bronquioalveolar/parasitología , Parabasalidea/aislamiento & purificación , Enfermedades Pulmonares Parasitarias/diagnóstico , Enfermedades Pulmonares Parasitarias/etiología , Diagnóstico DiferencialRESUMEN
We investigated the presence of intestinal parasites in canine feces collected from public squares in Comodoro Rivadavia, Chubut, Argentina (45 degrees S, 68 degrees W) and determined the persistence of Echinococcus granulosus eggs in those droppings under natural environmental conditions in that region. In the first experiment, we analyzed 163 fecal samples collected from urban squares during 8 months time and found parasitic elements in 46.6%. The presence of parasites was independent of the condition of the feces (fresh or dried; P>0.05). Parasites potentially pathogenic in man were present, such as Toxocara species (spp.), Taenia spp./Echinococcus spp., Uncinarias spp., and Entamoeba spp. In the second experiment, we analyzed two canine fecal samples contaminated with E. granulosus eggs, deposited for 41 months within the natural environment. These parasitic elements persisted during the entire study as attested by light microscopy and the ELISA coproantigen test. We propose the study of the presence of intestinal parasites in canine feces within the environment as a general strategy for identifying and monitoring areas of risk for canine-related zoonoses since we were able to demonstrate the persistence of E. granulosus eggs in deposited canine feces for over 3 years within the area studied.