Browsing by Author "Vargas Innocenti, Paula Andrea"
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- ItemAnother face of RASA1: report of familial germline variant in RASA1 with dysmorphic features(WILEY, 2024) Hume Venegas, Esteban; Cossio Traverso, María Laura; Vargas Innocenti, Paula Andrea; Cubillos, María Paz; Maccioni Romero, Andrea Ana; Lay-Son Rodríguez, Guillermo RobertoRASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients. We phenotypically delineated a large family of individuals with multifocal fast-flow capillary malformations, severe lymphatic anomalies of perinatal onset, and dysmorphic features not previously described. Sequencing studies were performed on probands and related family members, confirming the segregation of dysmorphic features in affected members of a novel heterozygous variant in RASA1 (NM_002890.3:c.2366G>A, p.(Arg789Gln)). In this work, we broaden the phenotypic spectrum of CM-AVM type 1 and propose a new RASA1 variant as likely pathogenic.
- ItemComparison of two identification and susceptibility test kits forUreaplasmaspp andMycoplasma hominisin amniotic fluid of patients at high risk for intra-amniotic infection(2020) Kusanovic, Juan Pedro; Vargas Innocenti, Paula Andrea; Ferrer Márquez, Fernando Andrés; Díaz, F.; Córdova, V.; Martinovic, C.; Valdés, R.; Rosas, A.; Luna Fernández, Daniela Fanny; Silva, P.; Silva, K.; Nilo, M. E.; Silva, M. J.; Espejo, E.; Zambrano, M. A.; García, J.; Parra Lara, L. G.; Escobar, M. F.
- ItemDiagnóstico prenatal de malformaciones congénitas y alteraciones cromosómicas : resultado de la experiencia CIMAF - Hospital Dr. Sótero Del Río(2020) Vargas Innocenti, Paula Andrea; Mergudich, T.; Martinovic, C.; Córdova, V.; Valdés, R.; Luna, D.; Prieto, J. F.; Silva Silva, Juan Pablo; Silva, K.; Kusanovic, Juan Pedro; Lay-Son Rodríguez, Guillermo Roberto
- ItemExpectativas de estudiantes de medicina de pregrado en relación al perfil de médico esperado(2006) García-Huidobro Munita, Diego Nicolás; Nuñez, Felipe; Vargas Innocenti, Paula Andrea; Astudillo Mihovilovic, Smiljan Osvaldo; Hitschfeld Arriagada, Mario Javier; Gennero Riganti, Rubén Carlo; Salvatierra López, Loreto Olivia; Benavente Carrasco, Angela MaríaBackground: During the last few years, multiple new medical schools have emerged in Chile, associated to the constant preoccupation to provide a good quality medical care. This created the need to evaluate medical training programs and to open a discussion about the attributes that a good physician should have. Aim: To evaluate the medical student's perception of the ideal medical doctor profile. Material and methods: An analytical, descriptive and cross sectional study was designed. Eleven second year, 11 third year, nine fourth year, 13 fifth year, 6 sixth year and 8 seventh year students were studied. Data collection was gathered by focus groups. Codes and triangulation were used for data analysis. Results: As attitudes and moral-ethical values, students valued the absence of discrimination a listening attitude and empathy. Among job related issues, they valued responsibility and punctuality. Emotional and legal self-care were valued as self related attitudes. Among skills, competences and capacities, a value was given to communicational skills, team work and professional easiness. Knowledge about medical and non medical topics was appraised. The valued attributes among duties and activities were patient diagnosis, treatment and education, team leadership and continuous medical training. Conclusions: These findings should help to design new curricula for medical schools.
- ItemHemorragia intracraniana en un feto con Trisomia 21 y rabdomiomas cardiacos. Diagnostico diferencial de Esclerosis Tuberosa. Estudio antenatal a propósito de un caso.(2020) Christhian Rivera, V.; Vargas Innocenti, Paula Andrea
- ItemIsoform Alpha of PKC May Contribute to the Maintenance of Pregnancy Myometrial Quiescence in Humans(2013) Jofré, N.; Delpiano, N.; Cuello F., Mauricio; Poblete L., José A.; Vargas Innocenti, Paula Andrea; Carvajal C., Jorge A.
- ItemResultado de estudio prenatal invasivo para el diagnóstico de aneuploidía en el Hospital Sótero del Río(2016) Vargas Innocenti, Paula Andrea; Sepúlveda M., Sebastián; Kusanovic, Juan Pedro; Parra, Zasha; Mellado Sagredo, Cecilia; Pardo, Rosa; Silva, Karla; Díaz, Francisco; Ferrer Márquez, Fernando Andrés; Córdova, Víctor; Valdés, Rafael; Martinovic, Carolina; Salas, Carolina; Cortés, Patricio
- ItemTransabdominal collection of amniotic fluid "sludge" and identification of Candida albicans intra-amniotic infection(2018) Kusanovic, Juan Pedro; Romero, Roberto; Martinovic, Carolina; Silva, Karla; Erez, Offer; Maymon, Eli; Diaz, Francisco; Ferrer Márquez, Fernando Andrés; Valdes, Rafael; Cordova, Victor; Vargas Innocenti, Paula Andrea; Elena Nilo, Maria; Le Cerf, Patricio