RESUMEN
Uneven replication creates artifacts during whole genome amplification (WGA) that confound molecular karyotype assignment in single cells. Here, we present an improved WGA recipe that increased coverage and detection of copy number variants (CNVs) in single cells. We examined serial resections of glioblastoma (GBM) tumor from the same patient and found low-abundance clones containing CNVs in clinically relevant loci that were not observable using bulk DNA sequencing. We discovered extensive genomic variability in this class of tumor and provide a practical approach for investigating somatic mosaicism.
Asunto(s)
Glioblastoma/genética , Cariotipificación/métodos , Variaciones en el Número de Copia de ADN , Humanos , Análisis de Secuencia de ADN , Análisis de la Célula Individual , Secuenciación Completa del GenomaRESUMEN
Oropouche virus (OROV), of the family Bunyaviridae, is the second most frequent arbovirus causing febrile disease in Brazil. In spite of this, little is known about pathogenesis of OROV infection. This report describes an experimental model of OROV in golden hamster (Mesocricetus auratus). Following subcutaneous inoculation of OROV, over 50% of the animals developed disease characterized by lethargy, ruffled fur, shivering, paralysis, and approximately one third died. Animals were sacrificed on days 1, 3, 5, 8 and 11 post-inoculation to collect tissue samples from brain, heart, liver, lung, spleen, muscle and blood for virus titration, histology and OROV immunohistochemistry. OROV was detected in high titers in blood, liver and brain, but not in the other organs. Histopathology revealed meningoencephalitis and hepatitis, with abundant OROV antigen detected in liver and brain. Diffuse galectin-3 immunostaining in brain and liver supports microglial and Kupfer cells activation. This is the first description of an experimental model for OROV infection and should be helpful to study pathogenesis and possibly to test antiviral interventions such as drugs and vaccine candidates.
Asunto(s)
Infecciones por Bunyaviridae/veterinaria , Modelos Animales de Enfermedad , Orthobunyavirus/patogenicidad , Enfermedades de los Roedores/patología , Enfermedades de los Roedores/virología , Estructuras Animales/patología , Estructuras Animales/virología , Animales , Brasil , Infecciones por Bunyaviridae/patología , Infecciones por Bunyaviridae/virología , Cricetinae , Hepatitis Viral Animal/patología , Hepatitis Viral Animal/virología , Histocitoquímica , Masculino , Meningoencefalitis/patología , Meningoencefalitis/veterinaria , Meningoencefalitis/virología , Mesocricetus/virología , MicroscopíaAsunto(s)
Autopsia , Causas de Muerte , Errores Diagnósticos , Humanos , Control de Calidad , Estándares de ReferenciaAsunto(s)
Humanos , Autopsia , Causas de Muerte , Errores Diagnósticos , Control de Calidad , Estándares de ReferenciaRESUMEN
Apresentamos um caso de forma pulmonar de actinomicose, no qual, apesar de intensa investigaçäo, incluse com biopsia pulmonar a céu aberto, o diagnóstico só foi possível post mortem. É feita referência à resposta parcial à Hidrazida e Rifampicina, fato que associado a um PPD de 20 mm induziu a uma impressäo diagnóstica errônea, postergando uma determinaçäo etiológica correta. Ressaltamos a importância de incluir actinomicose no diagnóstico dos processos intersticiais nodulares, visto que, com uma terapêutica adequada, se observa boa resposta
Asunto(s)
Adulto , Humanos , Masculino , Actinomicosis/diagnóstico , Enfermedades Pulmonares/diagnóstico , Diagnóstico DiferencialRESUMEN
Os autores apresentam o caso de um menino de 11 anos de idade com manifestaçöes neurológicas há três dias antes da internaçäo. O diagnóstico clínico básico foi tumor de ponte de etiologia näo definida e o diagnóstico anátomo-patológico principal foi astrocitoma maligno da ponte com edema cerebral. Discute-se o valor da biópsia nestes casos