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1.
Clin Radiol ; 66(3): 224-36, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21295201

ABSTRACT

The incidence of melanoma has been steadily increasing. Imaging plays an important role in tumour assessment as metastatic melanoma can involve multiple organs. Computed tomography (CT) is currently the most widely used technique for tumour staging, surveillance and assessment of therapeutic response, but ultrasound, magnetic resonance imaging (MRI) and positron-emission tomography (PET)-CT also play important roles in the imaging of this tumour. In this article, we review the pathways of spread, staging according to the recently updated TNM classification, pathology, typical and atypical imaging features at common and uncommon sites, and treatment of metastatic melanoma.


Subject(s)
Melanoma/secondary , Skin Neoplasms/pathology , Female , Humans , Lymphatic Metastasis , Magnetic Resonance Imaging/methods , Male , Melanoma/diagnosis , Melanoma/mortality , Melanoma/therapy , Neoplasm Staging/methods , Positron-Emission Tomography/methods , Prognosis , Skin Neoplasms/diagnosis , Skin Neoplasms/mortality , Tomography, X-Ray Computed
5.
Ann Neurol ; 43(4): 485-93, 1998 Apr.
Article in English | MEDLINE | ID: mdl-9546330

ABSTRACT

We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogenetic and molecular diagnosis of AS. All patients had 6 to 72 hours of closed-circuit television videotaping and digitized electroencephalogrpahic (EEG) telemetry. Patients from all genotypic classes had characteristic EEGs with diffuse bifrontally dominant high-amplitude 1- to 3-Hz notched or triphasic or polyphasic slow waves, or slow and sharp waves. Class I patients had severe intractable epilepsy, most frequently with atypical absences and myoclonias and less frequently with generalized extensor tonic seizures or flexor spasms. Epileptic spasms were recorded in AS patients as old as 41 years. Aged-matched class II, III, and IV patients had either no epilepsy or drug-responsive mild epilepsy with relatively infrequent atypical absences, myoclonias, or atonic seizures. In conclusion, maternally inherited chromosome 15q11-13 deletions produce severe epilepsy. Loss-of-function UBE3A mutations, uniparental disomy, or methylation imprint abnormalities in AS are associated with relatively mild epilepsy. Involvement of other genes in the chromosome 15q11-13 deletion, such as GABRB3, may explain severe epilepsy in AS.


Subject(s)
Angelman Syndrome/genetics , Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, Pair 15 , Epilepsy/genetics , Adolescent , Adult , Age Factors , Angelman Syndrome/physiopathology , Child , Child, Preschool , Chromosome Deletion , Chromosome Mapping , DNA Methylation , Electroencephalography , Epilepsy/physiopathology , Female , Genomic Imprinting , Genotype , Humans , Ligases/genetics , Male , Phenotype , Seizures/genetics , Seizures/physiopathology , Ubiquitin-Protein Ligases
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