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Examination of fixed brain tissue sent to NPDPSC demonstrated no lesions indicative of CJD, and immunohistochemical testing with antibody to the prion protein did not demonstrate the granular deposits seen in prion diseases.
Because the confirmation of CJD and the detection of a new prion disease require neuropathologic study of brain tissue, physicians are encouraged to contact NPDPSC (http:// www.cjdsurveillance.com; telephone, 216-368-0587) to confirm diagnoses of CJD and to distinguish its various subtypes.
Frozen tissue from the next two cases received and cut fresh on the same brass plate following the CJD sample should be identified and withdrawn from research and either stored with appropriate biohazard labeling or transferred to NPDPSC.
Samples of blood, urine, and CSF were sent to the NPDPSC and the Medical Research Council Prion Unit (London, UK).
The panel of diagnostic tests for CJD used for many years at the NPDPSC includes level determinations of 14-3-3 and Tau proteins in the CSF.
El diagnostico definitivo fue obtenido por el Centro Nacional de Patologia Para la Vigilancia de Enfermedades por Prion (NPDPSC por sus siglas en ingles), en Cleveland, Ohio, Estados Unidos.
The National Prion Disease Pathology Surveillance Center (NPDPSC) in Cleveland, Ohio, USA, was contacted and agreed to fly to Puerto Rico to perform the autopsy.
The clinical and histopathological features of this case fit well with those of the sCJDMMl subtype, as confirmed by the genetic and molecular data carried out by the NPDPSC.
Two more sCJD cases of patients native and resident to Puerto Rico were listed in the NPDPSC data bank.
The diagnosis was later confirmed by brain autopsy at the NPDPSC. This report represents the first detailed description of sCJD in a Puerto Rican family.
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