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1.
Mil Med ; 2021 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-34865142

RESUMO

INTRODUCTION: Catchment populations have several uses. A method using catchment population to estimate the incidence of sporadic Creutzfeldt-Jakob disease (sCJD) is described. MATERIALS AND METHODS: A cohort of nine consecutive patients diagnosed with sCJD, symptom onset spanning 26 months, were observed at a rural tertiary university medical center that has approximately 40,000 hospital discharges annually. An effective catchment population was determined using surrounding county utilization frequency that captured all nine sCJD patients and accounted for over 87% of discharges. RESULTS: The effective sCJD hospital catchment population was 1.266 million, implying an annual sCJD incidence rate of 3.39 per million (95% CIs, 1.55-6.43), assuming a Poisson distribution for sCJD occurrence. CONCLUSIONS: This annual incidence rate suggests that many sCJD patients are unrecognized and unreported. An advantage of this catchment population method is independence from death certificate accuracy, important in rare diseases that are both rapidly and invariably fatal. The relative absence of significant healthcare systems competition in this rural population enhances the reliability of this finding. The most likely explanation for the high sCJD incidence rate suggested by this study is enhanced clinical suspicion and improved diagnostic accuracy.

2.
Epilepsy Behav Rep ; 16: 100484, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34622193

RESUMO

Tumor-related epilepsy is a frequent complication of glioblastoma with seizures often representing the first manifestation of the malignancy. Though tumor resection is associated with improved seizure control, extensive surgery is not always feasible if eloquent cortex is involved in seizure generation and early propagation. We describe a case of a patient with glioblastoma with drug-resistant focal status epilepticus where fluorodeoxyglucose positron emission tomography imaging was successfully used to localize the seizure-onset and optimize tumor resection. This led to successful resection of hypermetabolic tumor tissue and resolution of focal status epilepticus without damage to eloquent cortex.

3.
CNS Oncol ; 10(3): CNS75, 2021 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-34469205

RESUMO

Glioblastoma multiforme is the most common malignant primary brain tumor in adults. Histone H3 mutations have been identified in pediatric and adult gliomas, with H3K27M mutations typically associated with a posterior fossa midline tumor location and poor prognosis. Leptomeningeal disease is a known complication of histone-mutant glioma, but uncommon at the time of initial diagnosis. We describe a case of glioblastoma with H3K27M mutation that initially presented with progressive vision loss due to diffuse leptomeningeal disease in the absence of a mass lesion other than a small cerebellar area of enhancement and with cerebrospinal fluid cytology negative for malignant cells on two occasions, highlighting the importance of including primary CNS malignancies in the differential of diffuse radiographic leptomeningeal enhancement.


Lay abstract Glioblastoma multiforme (GBM) is the most common malignant primary brain tumor in adults. Histones are molecules around which DNA winds. GBM and other gliomas sometimes have genetic alterations called mutations in histone genes. Of these, a specific alteration in histone 3 called H3K27M has been described in a variety of primary brain tumors. In adult gliomas, the H3K27M mutation is typically associated with tumors located within the brainstem or other structures in the midline of the central nervous system and a poor prognosis. Although previously reported, involvement of the leptomeninges (the thin membranes covering the brain and spinal cord) is uncommon at the time of initial diagnosis of gliomas harboring H3K27M mutations. We describe a case of GBM that initially presented with vision loss due to diffuse leptomeningeal involvement. Imaging and laboratory studies, including two cerebrospinal fluid analyses by lumbar puncture, did not establish a diagnosis. Brain biopsy confirmed the presence of a tumor, and genetic testing performed on the tumor tissue identified the histone mutation. This case highlights the importance of including primary central nervous system malignancies as a possible diagnosis when there is diffuse radiographic leptomeningeal enhancement.


Assuntos
Neoplasias Encefálicas , Glioblastoma , Glioma , Neoplasias Meníngeas , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Criança , Glioma/diagnóstico por imagem , Glioma/genética , Histonas/genética , Humanos , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/genética , Mutação/genética
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