Artículos ScieloArtículos indexados en base de datos Scielohttps://repositorio.umayor.cl/xmlui/handle/sibum/662024-03-28T10:16:14Z2024-03-28T10:16:14ZGenome sequencing reveals molecular subgroups in oral epithelial dysplasiaMárquez, AgustínMujica, IsidoraJordán, NataliaBáez, PabloTarquinio, SandraNunes, JeanAdorno, DanielaMartínez, Benjamín [Univ Mayor, Fac Dent, Santiago, Chile]Morales-Pisón, Sebastián [Univ Mayor, Precis Oncol Ctr, Santiago, Chile]Fernández-Remires, Ricardo [Univ Mayor, Fac Med & Heatlh Sci, Santiago, Chile]https://repositorio.umayor.cl/xmlui/handle/sibum/94952024-03-21T21:40:32Z2023-07-16T00:00:00ZGenome sequencing reveals molecular subgroups in oral epithelial dysplasia
Márquez, Agustín; Mujica, Isidora; Jordán, Natalia; Báez, Pablo; Tarquinio, Sandra; Nunes, Jean; Adorno, Daniela; Martínez, Benjamín [Univ Mayor, Fac Dent, Santiago, Chile]; Morales-Pisón, Sebastián [Univ Mayor, Precis Oncol Ctr, Santiago, Chile]; Fernández-Remires, Ricardo [Univ Mayor, Fac Med & Heatlh Sci, Santiago, Chile]
This study aimed to analyze the molecular characteristics of oral epithelial dysplasia (OED), highlighting the pathways and variants of genes that are frequently mutated in oral squamous cell carcinoma (OSCC) and other cancers. Ten archival OED cases were retrieved for retrospective clinicopathological analysis and exome sequencing. Comparative genomic analysis was performed between high-grade dysplasia (HGD) and low-grade dysplasia (LGD), focusing on 57 well-known cancer genes, of which 10 were previously described as the most mutated in OSCC. HGD cases had significantly more variants; however, a similar mutational landscape to OSCC was observed in both groups. CASP8+FAT1/ HRAS, TP53, and miscellaneous molecular signatures were also present. FAT1 is the gene that is most affected by pathogenic variants. Hierarchical divisive clustering showed division between the two groups: "HGD-like cluster" with 4HGD and 2LGD and "LGD-like cluster" with 4 LGD. MLL4 pathogenic variants were exclusively in the "LGD-like cluster". TP53 was affected in one case of HGD; however, its pathway was usually altered. We describe new insights into the genetic basis of epithelial malignant transformation by genomic analysis, highlighting those associated with FAT1 and TP53. Some LGDs presented a similar mutational landscape to HGD after cluster analysis. Perhaps molecular alterations have not yet been reflected in histomorphology. The relative risk of malignant transformation in this molecular subgroup should be addressed in future studies.
2023-07-16T00:00:00ZWhole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genesAdorno-Farias, DanielaNunes dos Santos, JeanGonzález-Arriagada, WilfredoTarquinio, SandraSantibáñez Palominos, Rodrigo Alberto [Univ Mayor UMAYOR, Ctr Genom & Bioinformat, Sch Sci, Network Biol Lab, Santiago, Chile]Martin Martin, Alberto JesúsFernández-Ramires, Ricardohttps://repositorio.umayor.cl/xmlui/handle/sibum/94942024-03-21T21:18:12Z2023-03-23T00:00:00ZWhole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes
Adorno-Farias, Daniela; Nunes dos Santos, Jean; González-Arriagada, Wilfredo; Tarquinio, Sandra; Santibáñez Palominos, Rodrigo Alberto [Univ Mayor UMAYOR, Ctr Genom & Bioinformat, Sch Sci, Network Biol Lab, Santiago, Chile]; Martin Martin, Alberto Jesús; Fernández-Ramires, Ricardo
The genetic basis of oral epithelial (OED) is unknown, and there is no reliable method for evaluating the risk of malignant transformation. Somatic mutations are responsible for the transformation of dysplastic mucosa to invasive cancer. In addition, these genomic variations could represent objective markers of the potential for malignant transformation. We performed whole-exome sequencing of 10 OED samples from Brazilian and Chilean patients. Using public genetic repositories, we identified 41 deleterious variants that could produce high-impact changes in the amino acid structures of 38 genes. In addition, the variants were filtered according to normal skin and Native American genome profiles. Finally, 13 genes harboring 15 variants were found to be exclusively related to OED. High-grade epithelial dysplasia samples showed a tendency to accumulate highly deleterious variants. We observed that 62% of 13 OED genes identified in our study were also found in head and neck squamous cell carcinoma. Among the shared genes, eight were not identified in oral squamous cell carcinoma. To our knowledge, we have described for the first time 13 genes that are found in OED in a Latin American population, of which five genes have already been observed in oral squamous cell carcinoma. Through this study, we identified genes that may be related to basal biological functions in OED.
2023-03-23T00:00:00ZImplementación de una jornada virtual de telesalud y capacitación masiva para personas mayores chilenas y estudiantes de la salud: impacto en la coberturaGutiérrez, Myriam [Univ Mayor, Fac Med & Ciencias Salud, Santiago, Chile]Mauro, JorgeAsecio, JavieraAcevedo, FabrizioHerrada, Javiera [Univ Mayor, Fac Med & Ciencias Salud, Santiago, Chile]Torres, ConstanzaDelgado, CarolinaFasce, Gerardohttps://repositorio.umayor.cl/xmlui/handle/sibum/94902024-03-21T18:26:11Z2023-02-01T00:00:00ZImplementación de una jornada virtual de telesalud y capacitación masiva para personas mayores chilenas y estudiantes de la salud: impacto en la cobertura
Gutiérrez, Myriam [Univ Mayor, Fac Med & Ciencias Salud, Santiago, Chile]; Mauro, Jorge; Asecio, Javiera; Acevedo, Fabrizio; Herrada, Javiera [Univ Mayor, Fac Med & Ciencias Salud, Santiago, Chile]; Torres, Constanza; Delgado, Carolina; Fasce, Gerardo
Background: Aging increases the vulnerability to diseases and environmental changes such as the COVID-19 pandemic. Telehealth and tele-education are vital to prevent the deleterious effects of prolonged confinement, and to train the community, and constantly rotating medical students and health professionals. Aim: To assess the perception and impact of an online course about healthy aging aimed at the community and health care professionals. Material and Methods: An open online one-day course to promote healthy aging was carried out. A cross-sectional online survey about the course was answered by 386 attendants and a knowledge test was applied to 114 people. Results: Seventy-five percent of respondents attended the course synchronously. Of these, 79% were women, 20% were older people and 53% were caregivers of an older person. All respondents acquired new knowledge and were willing to participate again. The frequency of interest about self-care is three times greater than about caring for another person, In an older person, the interest is 101 more times about self-care than caring for another person. Ninety five percent of respondents felt more active and 84% felt more accompanied. Conclusions: The course facilitated access to information on the promotion of active and healthy aging in the community with a favorable perception and a positive impact. The coverage for older people with a digital gap should be improved.
2023-02-01T00:00:00ZESTADO ACTUAL Y TRANSFORMACIONES DEL EMPLEO RURAL EN AMÉRICA LATINA: UN ANÁLISIS DEL CASO DE CHILEPérez Silva, Rodrigo [Univ Mayor, Ctr Econ & Polit Soc, Chile]https://repositorio.umayor.cl/xmlui/handle/sibum/94892024-03-21T18:09:15Z2023-10-08T00:00:00ZESTADO ACTUAL Y TRANSFORMACIONES DEL EMPLEO RURAL EN AMÉRICA LATINA: UN ANÁLISIS DEL CASO DE CHILE
Pérez Silva, Rodrigo [Univ Mayor, Ctr Econ & Polit Soc, Chile]
El empleo rural de América Latina se ha mantenido históricamente en una situación desfavorable respecto de las áreas urbanas. Mientras los ingresos de los habitantes rurales son inferiores, el trabajo por cuenta propia, el trabajo agrícola y la pluriactividad, típicamente asociados a alta vulnerabilidad, son mayores en áreas rurales. Pese a lo anterior, en las últimas décadas los países de la región han observado modificaciones en sus estructuras de empleo rural. El objetivo del estudio es plasmar el estado actual y las transformaciones del empleo rural en América Latina, analizando los cambios recientes producidos en Chile. Se utilizan diversas encuestas de hogares para describir la situación del empleo rural para cuatro países de América Latina: Chile, Colombia, Guatemala y Nicaragua, y se analizan los cambios recientes producidos en Chile. Los resultados indican que, si bien las áreas rurales de América Latina se encuentran en condiciones desfavorable, en el Chile rural se observa una caída en el empleo agrícola y en el trabajo por cuenta propia, y una mayor participación femenina, lo que se condice con una mejora en las condiciones de vida de los habitantes rurales y una potencial convergencia económica hacia las áreas urbanas.
2023-10-08T00:00:00Z