RESUMEN
INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are mesenchymal neoplasms usually caused by somatic mutations in the genes KIT (c-kit) or PDGFRA. Mutation characterization has become an important exam for GIST patients because it is useful in predicting the response to the inhibitors of receptor tyrosine kinase (RTK). OBJECTIVES: The aim of this study was to determine the frequency of KIT and PDGFRA mutations in 25 GIST samples collected over two years at two national reference hospitals in Peru. There were 21 samples collected from the Instituto Nacional de Enfermedades Neoplásicas (INEN, national cancer center) and 4 samples collected from Hospital A. Loayza. METHODS AND MATERIALS: In this retrospective study, we performed polymerase chain reaction (PCR) amplification and deoxyribonucleic acid (DNA) sequencing of KIT (exons 9, 11, 13, and 17) and PDGFRA (exons 12 and 18) genes in 20 FFPE (formalin-fixed, paraffin-embedded) and 5 frozen GIST samples. RESULTS: We report 21 mutations, including deletions, duplications, and missense, no mutations in 2 samples, and 2 samples with no useful DNA for further analysis. Eighty-six percent of these mutations were located in exon 11 of KIT, and 14 % were located in exon 18 of PDGFRA. CONCLUSIONS: Our study identified mutations in 21 out of 25 GIST samples from 2 referential national hospitals in Peru, and the mutation proportion follows a global tendency observed from previous studies (i.e., the majority of samples presented KIT mutations followed by a minor percentage of PDGFRA mutations). This study presents the first mutation data of the KIT and PDGFRA genes from Peruvian individuals with GIST.
Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias Gastrointestinales/genética , Tumores del Estroma Gastrointestinal/genética , Mutación , Proteínas Proto-Oncogénicas c-kit/genética , Receptor alfa de Factor de Crecimiento Derivado de Plaquetas/genética , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Perú , Estudios RetrospectivosRESUMEN
PURPOSE: The aim of this study was to characterize a representative sample of the Peruvian population suffering open-angle glaucoma (OAG) with respect to the myocilin gene (MYOC) mutations, glaucoma phenotype, and ancestry for future glaucoma risk assessment. METHODS: DNA samples from 414 unrelated Peruvian subjects, including 205 open-angle glaucoma cases (10 juvenile glaucoma [JOAG], 19 normal-tension glaucoma [NTG], and 176 POAG) and 209 randomly sampled controls, were screened for nucleotide changes in MYOC exon 3 by conformational sensitive gel electrophoresis (CSGE) and mutation screening. RESULTS: We identified a probable causative novel MYOC missense mutation, Gly326Ser, in one POAG case and found a consistent genotype-phenotype correlation in eight of his relatives. We also found the known causative MYOC mutation Trp286Arg in one JOAG case and one POAG case. A known causative single base MYOC deletion, T1357, was found in one POAG case. Two previously reported silent polymorphisms, Thr325Thr and Tyr347Tyr, were found in both the case and the control populations. A novel missense variant, Met476Arg, was identified in two unrelated controls. CONCLUSIONS: The screening of exon 3 of MYOC in a representative sample of 205 independent POAG patients from Peru and 209 matched controls identified novel and previously reported mutations (both pathogenic and nonpathogenic) from other global regions. These results reflect the complex admixture of Amerindian and Old World ancestry in urban populations of Latin America, in general, and in Peru, in particular. It will be important to gather information about the ancestral origin of MYOC and other POAG gene mutations to develop screening panels and risk assessment for POAG in Peru.
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Proteínas del Citoesqueleto/genética , Etnicidad , Proteínas del Ojo/genética , Estudios de Asociación Genética , Glaucoma de Ángulo Abierto/genética , Glicoproteínas/genética , Mutación Missense , Adolescente , Anciano , Anciano de 80 o más Años , Secuencia de Bases , Estudios de Casos y Controles , Análisis Mutacional de ADN , Exones , Femenino , Glaucoma de Ángulo Abierto/etnología , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Linaje , Perú/epidemiología , Polimorfismo de Nucleótido Simple , RiesgoRESUMEN
During 1997, two new viruses were isolated from outbreaks of disease that occurred in horses, donkeys, cattle and sheep in Peru. Genome characterization showed that the virus isolated from horses (with neurological disorders, 78% fatality) belongs to a new species the Peruvian horse sickness virus (PHSV), within the genus Orbivirus, family Reoviridae. This represents the first isolation of PHSV, which was subsequently also isolated during 1999, from diseased horses in the Northern Territory of Australia (Elsey virus, ELSV). Serological and molecular studies showed that PHSV and ELSV are very similar in the serotype-determining protein (99%, same serotype). The second virus (Rioja virus, RIOV) was associated with neurological signs in donkeys, cattle, sheep and dogs and was shown to be a member of the species Yunnan orbivirus (YUOV). RIOV and YUOV are also almost identical (97% amino acid identity) in the serotype-determining protein. YUOV was originally isolated from mosquitoes in China.
Asunto(s)
Enfermedades de los Caballos/virología , Orbivirus/aislamiento & purificación , Infecciones por Reoviridae/veterinaria , Animales , Secuencia de Bases , Bovinos , Culicidae/virología , Brotes de Enfermedades/veterinaria , Perros , Equidae/virología , Enfermedades de los Caballos/epidemiología , Caballos/virología , Microscopía Electrónica de Transmisión , Epidemiología Molecular , Northern Territory , Orbivirus/clasificación , Orbivirus/genética , Orbivirus/patogenicidad , Perú , Filogenia , ARN Viral/genética , Infecciones por Reoviridae/epidemiología , Infecciones por Reoviridae/virología , Serotipificación , Proteínas Virales/genéticaRESUMEN
A través de la historia de la medicina, su enseñanza ha variado desde la demostración de procedimientos con enfermos, el uso de cadáveres, animales para vivisección y experimentación, réplicas del cuerpo humano y de sus componentes y muchos más. Los cambios que se suscitan ahora están relacionados con la aparición de medios audiovisuales, electrónicos y el computador.
Asunto(s)
Humanos , Materiales de Enseñanza , Metodología como un TemaRESUMEN
Se hace necesario desarrollar propuestas operativas con un enfoque interdisciplinario, procurando una mayorparticipación comunitaria, en la cual actúen los estudiantes, formando así profesionales conocedores de la realidadsanitaria de nuestro país y comprometidos con su formación como personas y ciudadanos. Especialmente ahora, que existe la participación gubernamental, la organización de Municipalidades y Comunidades saludables.
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Humanos , Estudiantes de Medicina , Promoción de la SaludRESUMEN
En tiempos en los que tenemos nuevos paradigmas educativos que giran en función a la Educación centrada en el estudiante, priorizando su aprendizaje autónomo y eliminando la educación centrada en el docente y con un contenido que asegure el aprendizaje con una integración del conocimiento (5). Por lo que debemos poner en agenda el tema de la persona con discapacidad para sensibilizar y cumplir con el objetivo de enseñar una Medicina Inclusiva.
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Humanos , Educación Médica , Investigación Biomédica , Medicina , PerúRESUMEN
En las últimas décadas se ha resaltado la relevancia de la empatía en la disposición prosocial de las personas y su función inhibidora de la agresividad. El desarrollo de las técnicas de neuroimagen ha hecho posible el avance en el conocimiento de las estructuras neuronales implicadas en diversosprocesos psicológicos y comportamientos complejos. En los últimos años, hubo un notable incremento del número de estudios focalizados en analizar y comprender el funcionamiento de los circuitos cerebrales implicados en la empatía.