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1.
Clin Neuropathol ; 34(2): 64-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25373141

RESUMO

A 33-year-old female was found to have a rosette-forming glioneuronal tumor (RGNT) occurring within the fourth ventricle with multifocal extension to the third and lateral ventricles. She presented with headaches, blurred vision, nausea, and intermittent dizziness. A brain magnetic resonance imaging (MRI) scan showed hydrocephalus and multifocal nodules throughout the ventricular system with the largest mass occupying the fourth ventricle. An endoscopic third ventriculostomy and biopsy were performed. Histological examination demonstrated a glioneuronal neoplasm with the characteristic features of RGNT. While the histopathological features of our case are well in accord with those reported in the literature, the multifocal intraventricular growth pattern has only been described twice before. Moreover, RGNT of the fourth ventricle with dissemination throughout the supratentorial ventricles has only been described once before. Long-term studies are required to assess the best treatment modalities and clinical behavior of this extremely rare disseminated RGNT entity.


Assuntos
Neoplasias do Ventrículo Cerebral/patologia , Ganglioglioma/patologia , Adulto , Feminino , Humanos
2.
Genome Biol ; 15(11): 510, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25413302

RESUMO

BACKGROUND: Sparganosis is an infection with a larval Diphyllobothriidea tapeworm. From a rare cerebral case presented at a clinic in the UK, DNA was recovered from a biopsy sample and used to determine the causative species as Spirometra erinaceieuropaei through sequencing of the cox1 gene. From the same DNA, we have produced a draft genome, the first of its kind for this species, and used it to perform a comparative genomics analysis and to investigate known and potential tapeworm drug targets in this tapeworm. RESULTS: The 1.26 Gb draft genome of S. erinaceieuropaei is currently the largest reported for any flatworm. Through investigation of ß-tubulin genes, we predict that S. erinaceieuropaei larvae are insensitive to the tapeworm drug albendazole. We find that many putative tapeworm drug targets are also present in S. erinaceieuropaei, allowing possible cross application of new drugs. In comparison to other sequenced tapeworm species we observe expansion of protease classes, and of Kuntiz-type protease inhibitors. Expanded gene families in this tapeworm also include those that are involved in processes that add post-translational diversity to the protein landscape, intracellular transport, transcriptional regulation and detoxification. CONCLUSIONS: The S. erinaceieuropaei genome begins to give us insight into an order of tapeworms previously uncharacterized at the genome-wide level. From a single clinical case we have begun to sketch a picture of the characteristics of these organisms. Finally, our work represents a significant technological achievement as we present a draft genome sequence of a rare tapeworm, and from a small amount of starting material.


Assuntos
Diphyllobothrium/genética , Genoma , Esparganose/genética , Spirometra/genética , Animais , Sequência de Bases , Biópsia , Encéfalo/parasitologia , Encéfalo/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Esparganose/parasitologia , Spirometra/parasitologia , Reino Unido
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