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C11orf95‐RELA fusion present in a primary intracranial extra‐axial ependymoma: Report of a case with literature review 下载免费PDF全文
Aruna Nambirajan Prit Benny Malgulwar Mehar C. Sharma Anutosh Singh Pankaj Pathak Guru Dutta Satyarthee Ajay Garg 《Neuropathology》2016,36(5):490-495
Ependymomas are gliomas that recapitulate the ependymal cells microscopically and ultrastructurally. They commonly occur along the ventricular surfaces and central canal of the brain and spinal cord. Intracranial extra‐axial ependymoma (IEAE) is a rare entity and is commonly misdiagnosed clinically and radiologically as a meningioma. The histogenesis of such IEAEs is obscure. A novel recurrent oncogenic fusion involving the C11orf95 and RELA genes was recently described in supratentorial ependymomas. A 9‐year‐old girl presented with a dural based parafalcine mass that, in addition to exhibiting classical immunohistochemical features of an ependymoma, also demonstrated C11orf95‐RELA fusion, characteristic of supratentorial ependymomas. We suggest that IEAEs share their histogenesis with their intra‐axial counterparts, arising either from dural extension of subcortical, subependymal rests or directly from ectopic dural rests. 相似文献
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LexGrid: A Framework for Representing, Storing, and Querying Biomedical Terminologies from Simple to Sublime 总被引:1,自引:0,他引:1
Jyotishman Pathak Harold R. Solbrig James D. Buntrock MS Thomas M. Johnson Christopher G. Chute MD DrPH 《J Am Med Inform Assoc》2009,16(3):305-315
Many biomedical terminologies, classifications, and ontological resources such as the NCI Thesaurus (NCIT), International Classification of Diseases (ICD), Systematized Nomenclature of Medicine (SNOMED), Current Procedural Terminology (CPT), and Gene Ontology (GO) have been developed and used to build a variety of IT applications in biology, biomedicine, and health care settings. However, virtually all these resources involve incompatible formats, are based on different modeling languages, and lack appropriate tooling and programming interfaces (APIs) that hinder their wide-scale adoption and usage in a variety of application contexts. The Lexical Grid (LexGrid) project introduced in this paper is an ongoing community-driven initiative, coordinated by the Mayo Clinic Division of Biomedical Statistics and Informatics, designed to bridge this gap using a common terminology model called the LexGrid model. The key aspect of the model is to accommodate multiple vocabulary and ontology distribution formats and support of multiple data stores for federated vocabulary distribution. The model provides a foundation for building consistent and standardized APIs to access multiple vocabularies that support lexical search queries, hierarchy navigation, and a rich set of features such as recursive subsumption (e.g., get all the children of the concept penicillin). Existing LexGrid implementations include the LexBIG API as well as a reference implementation of the HL7 Common Terminology Services (CTS) specification providing programmatic access via Java, Web, and Grid services. 相似文献
96.
Sunscreens. Topical and systemic approaches for the prevention of acute and chronic sun-induced skin reactions 总被引:2,自引:0,他引:2
M A Pathak 《Dermatologic Clinics》1986,4(2):321-334
In this article, practical and clinical aspects of photoprotection are discussed with emphasis on topical sunscreens. Protection against the adverse effects of sunlight includes prevention of the following: sunburn in normal individuals; acute phototoxic and photoallergic reactions; chronic skin damage (dermatoheliosis) and skin cancer; and specific disease-oriented responses (such as porphyria or polymorphous photodermatitis). 相似文献
97.
A series of new fluorine-containing 3,5-disubstituted aryl/alkylisoxazoles has been synthesized by the condensation of hydroxylamine with appropriate beta-diketones in the presence of pyridine and characterized by IR and 1H NMR spectral studies. These isoxazoles have been screened for their antibacterial activity against the gram positive bacteria, Staphylococcus albus, Streptococcus nonhemolyticus and the gram negative bacterium Escherichia coli. 相似文献
98.
J. Haque M.S. B. Mukherjee M.S. G. R. Prasad M.Sc. S. K. Mitra F.R.C.S. I. C. Pathak F.A.M.S. 《Indian journal of pediatrics》1985,52(1):107-109
A rare case of giant hydronephrosis due to ureterovesical junction obstruction is presented. 相似文献
99.
Pattern of neoplasms in children under 15 years is reviewed. Of 1424 lesions, 57 per cent were benign. The common malignant
tumours in order of frequency were; lymphoma, central nervous system (CNS) tumors, soft tissue sarcomas, bona sarcomas, retinoblastoma,
Wilms' tumour and carcinomas. Males were affected more often than females (ratio of 2·6∶1). Malignant tumours were commonest
in the first five year of life. 相似文献
100.
An ecofriendly synthesis for 1,2,3,4,5,6,8-octahydro- 3-amino-2-thioxo-benzothieno[2,3-d]pyrimidin-4-one (7A, B) has been developed. A series of hitherto unreported compounds (2a-i, 3a-c) have been synthesized by treating 3-Amino-2-mercaptopyrimidinones (7A, B) with one carbon donors like chloroacetyl chloride or chloroacetic acid and subsequently replacing the chloro group by various nucleophiles. Compound 2f was successfully synthesized by an alternate route. All the new compounds were characterized by elemental and spectral analyses. They were screened for analgesic activity in mice. Compounds 2a, b, 3a, b, and 2e, showed very good activity. 相似文献