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Creutzfeldt-Jakob disease: typical imaging findings

Amplified and Homozygously Deleted Genes in Glioblastoma: Impact on Gene Expres...

BACKGROUND: Glioblastoma multiforme (GBM) displays multiple amplicons and homozygous deletions that involve relevant pathogenic genes and other genes whose role remains unknown. METHODOLOGY: Single-nucleotide polymorphism (SNP)-arrays were used to determine the frequency of recurrent amplicons and homozygous deletions in GBM (n = 46), and to evaluate the impact of copy number alterations (CNA) on mRNA levels of...

Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in ...

Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, ...

Intratumoral patterns of clonal evolution in gliomas

Few studies have explored the patterns of clonal evolution in gliomas. Here, we investigate the cytogenetic patterns of intratumoral clonal evolution of gliomas and their impact on tumor histopathology and patient survival. Cytogenetic analysis of 90 gliomas was performed in individual tumor cells (>200 cells/tumor) using multicolor (N = 16 probes) interphase-FISH. Overall, chromosome gains were more frequent t...

Intraventricular Lesion

Síndroma de Cushing ACTH-dependente: estudo retrospectivo

AIM: To evaluate the characteristics and outcomes of the patients diagnosed as ACTH-dependent Cushing syndrome, registered in the department. MATERIAL AND METHODS: We reviewed the files of forty-three patients followed from 1974 to 2002. RESULTS: A progressive rise in the number of patients diagnosed was found, being 80% females. Clinical suspicion was based mostly on the typical fat distribution; hirsutism and...

Choroid plexus tumours: a surgically treated series

Choroid plexus tumours-carcinomas and papillomas are rare, especially in adults, and they pose some problems in their diagnosis and management. We have reviewed a series of nine cases from our institution surgically treated during the last 18 years. Their clinical charts, neuroradiological examinations, surgical technique, neuropathology and follow-up were analysed. In only one case total removal proved to be i...

Cystic intraventricular schwannoma: case report and review of the literature

Intraventricular schwannoma is an exceedingly rare tumour with only 6 cases described in the literature. One case of a cystic intraventricular schwannoma operated on at our Institution is analyzed and the other cases reported in the literature are reviewed. Complete removal was achieved and no recurrence was noted after a follow-up period of 10 years. Intraventricular schwannomas are rare tumours that are amena...

Frontal lobe-type dementia associated with motor neuron disease.

A case of presenile dementia with dominant frontal disfunction, progressive aphasia and Motor Neuron Disease with prominent bulbar signs is reported. Considering the clinical examination, the measurements of the regional cerebral flow (SPECT) and the histological appearances, we suggest the diagnosis of Dementia of Frontal Lobe Type and Motor Neuron Disease. We reviewed other disorders labelled Primary Frontal ...