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  • 1995-1999  (125)
  • 1995  (125)
  • Magnetic resonance imaging  (81)
  • Genetics  (44)
  • 1
    ISSN: 1432-1440
    Keywords: Adrenergic receptors ; Human genetics ; Restriction fragment length polymorphism ; Chromosome mapping ; Linkage ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have genetically mapped the genes encoding four human adrenergic receptors (ARs) of subtypes α1C, α2A, α2B, and β1, which are prototypic G protein coupled receptors that mediate the physiological effects of neurotransmitters, hormones, and drugs. We placed these genes onto the Cooperative Human Linkage Center (CHLC) and Genethon framework maps, within confidence intervals with greater than 1000∶1 odds. With multipoint analysis the α1C gene (locus ADRA1C) mapped to the interval between NEFL and D8S283; α2-C4, the gene encoding the α2C AR (locus ADRA2C), mapped to the interval between D4S126 and D4S62; and the α2-C10 (α2A AR)/β1 haplotype (loci ADRA2A/ ADRB1) mapped to the interval between D10S259 and D10S187. A fifth AR gene, β2, yielded significant LOD scores with markers on the long arm of chromosome 5; however, this locus (ADRB2) could not be mapped to any specific interval with odds of greater than 1000∶1. The two AR genes that are completely linked, α2-C10 and β1, were oriented on their shared 225-kb genomic fragment relative to the direction of transcription, with β1 being 5′ to α2-C10. The positioning of these genes on high-density framework maps allows them to be tested as candidates in a spectrum of diseases that might involve AR dysfunction.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 0192-253X
    Keywords: X-chromosome inactivation ; imprinting ; retinoblastoma ; transmission-ratio distortion ; methylation ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: We have begun a search for heritable variation in X-chromosome inactivation pattern in normal females to determine whether there is a genetic effect on the imprinting of X-chromosome inactivation in humans. We have performed a quantitative analysis of X-chromosome inactivation in lymphocytes from mothers in normal, three-generation families. Eight mothers and 12 grandmothers exhibited evidence of highly skewed patterns of X-chromosome inactivation. We observed that the male offspring of females with skewed X-inactivation patterns were three times more likely to inherit alleles at loci that were located on the inactive X chromosome (Xi) than the active X chromosome (Xa). The region of the X chromosome for which this phenomenon was observed extends from XP11 to -Xq22. We have also examined X-chromosome inactivation patterns in 21 unaffected mothers of male bilateral sporadic retinoblastoma patients. Six of these mothers had skewed patterns of X-chromosome inactivation. In contrast to the tendency for male offspring of skewed mothers from nondisease families to inherit alleles from the inactive X chromosome, five of the six affected males inherited the androgen receptor alleles from the active X chromosome of their mother. © 1995 Wiley-Liss, Inc.
    Additional Material: 1 Ill.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1920
    Keywords: Leukoencephalopathy ; White matter swelling ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In children, several neurological disorders are characterised by spongiform leukoencephalopathy. MRI of the brain typically shows white matter swelling, but does not enable differentiation of the various underlying disorders. The aim of this article is optimisation of the diagnostic value of MRI in leukoencephalopathy accompanied by swelling. MRI-based inclusion criteria were met by 20 patients in our database. The images were analysed using a detailed scoring list. In 13 of the 20 patients the clinical diagnosis was known (11 definite and 2 probable diagnoses). Characteristic MRI abnormalities could be defined in these patients. Of the 7 patients without a diagnosis, 5 had identical MRI abnormalities: difuse hemisphere swelling and typical cysts in frontoparietal subcortical white matter and the tips of the temporal lobes. The clinical picture was also similar in these patients, suggesting a similar disease.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1920
    Keywords: Key words Leukoencephalopathy ; White matter swelling ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In children, several neurological disorders are characterised by spongiform leukoencephalopathy. MRI of the brain typically shows white matter swelling, but does not enable differentiation of the various underlying disorders. The aim of this article is optimisation of the diagnostic value of MRI in leukoencephalopathy accompanied by swelling. MRI-based inclusion criteria were met by 20 patients in our database. The images were analysed using a detailed scoring list. In 13 of the 20 patients the clinical diagnosis was known (11 definite and 2 probable diagnoses). Characteristic MRI abnormalities could be defined in these patients. Of the 7 patients without a diagnosis, 5 had identical MRI abnormalities: diffuse hemisphere swelling and typical cysts in frontoparietal subcortical white matter and the tips of the temporal lobes. The clinical picture was also similar in these patients, suggesting a similar disease.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1459
    Keywords: Acute myelopathy ; Magnetic resonance imaging ; Evoked potentials ; Multiple sclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Brain and spinal cord magnetic resonance imaging (MRI), multimodal evoked potentials (EPs) and cerebrospinal fluid (CSF) analysis were performed in 27 patients with acute myelopathy of unknown aetiology (AMUA), to detect the diagnostic and prognostic values of paraclinical tests at presentation. Spinal cord MRI was abnormal in 56% and brain MRI in 33% of the patients. Visual EPs were abnormal in 7%, median somatosensory EPs in 17%, tibial somatosensory EPs in 56% and motor EPs in 35% of the cases examined. Brain-stem acoustic EPs were normal in all the patients. CSF oligoclonal bands (OBs) were detected in 30% of cases. The patients were divided into subgroups according to the short-term clinical outcome (complete, partial or absent recovery). There were no significant differences among the three groups as regards MRI findings. Patients with complete recovery showed a significantly lower frequency of tibial somatosensory EP and motor EP abnormalities. According to the paraclinical findings at onset and on the basis of a long-term clinical follow-up (mean duration 24 months), 6 patients were diagnosed as having clinically definite multiple sclerosis, while 21 did not develop further neurological disturbances. Only the presence of CSF OBs was significantly more frequent in patients with definite multiple sclerosis. Our study indicates that EPs exploring spinal cord function are more powerful than spinal MRI for predicting the short-term outcome of AMUA, while the combined use of brain MRI and CSF OBs has the highest negative predictive value for the subsequent development of clinically definite multiple sclerosis.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1619-7089
    Keywords: Soft tissue sarcomas ; Thallium-201 ; Magnetic resonance imaging ; Post-therapy changes ; Residual/recurrent tumors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We performed a prospective study to evaluate the imaging potential of thallium-201 as compared with other imaging modalities in differentiating residual/re-current tumors from post-therapy changes in patients with musculoskeletal sarcomas.201TI scans, magnetic resonance imaging (17), X-ray computed tomography (6) or contrast angiography (6) studies in 29 patients previously treated for musculoskeletal sarcomas were correlated with either histopathologic findings (26 patients) or 2-year clinical follow-up (three patients). All imaging studies were acquired within 2 weeks. Ratios of201T1 tumor uptake to the contralateral (28 patients) or adjacent region of interest were calculated. When qualitative interpretation was in doubt, only those cases with a ratio of 1.5 or more were considered suggestive of recurrent or residual viable tumor tissue. Residual or recurrent tumor tissue was verified in 21 patients by biopsy. All had true-positive201Tl scans while the other imaging modalities were true-positive in 20 and equivocal in one. In eight patients, there was no evidence of viable tumor tissue as proven by biopsy in five and long-term clinical follow-up in three.201Tl scan was false-positive (ratio 1.5) in one patient and true-negative in seven while the other' imaging modalities had four false-positives. The average201T1 ratios were 3.8±1.1 in the true-positive cases and 1.3±0.3 in the true-negative cases. The percentage sensitivities, specificities, and accuracy for201T1 were 100%, 87.5%, and 96.5% versus 95%, 50%, and 82.7% respectively for other imaging modalities These results indicate that201T1 scintigraphy is more accurate than other imaging modalities in differentiating residual/recurrent musculoskeletal sarcomas from post-therapy changes.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-0533
    Keywords: Key words Pes cavus ; Magnetic resonance imaging ; Pathology ; Morphometry ; Peroneus longus hypertrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Enlargement of the peroneus longus muscle is a common occurrence in patients with forefoot pes cavus, and may contribute to the cavus deformity. The present study compares the morphology of up to five lower leg muscles from 17 patients with forefoot pes cavus with those of normal muscles. Eight cases had an identifiable neurogenic cause for the cavus. In four cases of hereditary motor-sensory neuropathy, the tibialis anterior showed more severe damage than the peroneus longus. In two cases of cerebral palsy, fibre atrophy and increased oxidative enzyme activity were observed. In nine clinically idiopathic cases, the histological appearances ranged from normal to generalised fibre atrophy or hypertrophy in individual muscles. There was a trend for the mean fibre area to be greater in peroneus longus than in tibialis anterior in six of the idiopathic group of patients. The muscle cross-sectional area on magnetic resonance imaging was correlated closely with the mean fibre area measured on tissue sections. In idiopathic forefoot pes cavus, fibre hypertrophy in peroneus longus (relative to tibialis anterior) may contribute to the cavus deformity. Muscle fibre hyperplasia may contribute to the peroneal muscle enlargement in Friedreich's ataxia. In none of the cases was peroneus longus enlargement due to fat or fibrous tissue replacement.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-0533
    Keywords: Pes cavus ; Magnetic resonance imaging ; Pathology ; Morphometry ; Peroneus longus hypertrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Enlargement of the peroneus longus muscle is a common occurrence in patients with forefoot pes cavus, and may contribute to the cavus deformity. The present study compares the morphology of up to five lower leg muscles from 17 patients with forefoot pes cavus with those of normal muscles. Eight cases had an identifiable neurogenic cause for the cavus. In four cases of hereditary motor-sensory neuropathy, the tibialis anterior showed more severe damage than the peroneus longus. In two cases of cerebral palsy, fibre atrophy and increased oxidative enzyme activity were observed. In nine clinically idiopathic cases, the histological appearances ranged from normal to generalised fibre atrophy or hypertrophy in individual muscles. There was a trend for the mean fibre area to be greater in peroneus longus than in tibialis anterior in six of the idiopathic group of patients. The muscle cross-sectional area on magnetic resonance imaging was correlated closely with the mean fibre area measured on tissue sections. In idiopathic forefoot pes cavus, fibre hypertrophy in peroneus longus (relative to tibialis anterior) may contribute to the cavus deformity. Muscle fibre hyperplasia may contribute to the peroneal muscle enlargement in Friedreich's ataxia. In none of the cases was peroneus longus enlargement due to fat or fibrous tissue replacement.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1920
    Keywords: Key words Corpus callosum ; Hydrocephalus ; Dementia ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To investigate morphological changes in the corpus callosum in hydrocephalus and to correlate them with clinical findings we studied sagittal T2*-weighted cine MR images of 163 patients with hydrocephalus. The height, length and cross-sectional area of the corpus callosum were measured and related to the type of cerebrospinal fluid flow anomaly and to clinical features, especially dementia. With expansion of the lateral ventricles the corpus callosum showed mainly elevation of its body and, to a lesser degree, increase in length. Upward bowing was more pronounced in noncommunicating than in communicating hydrocephalus. Dorsal impingement on the corpus callosum by the free edge of the falx correlated with the height of the corpus callosum. Cross-sectional area did not correlate with either height, length or impingement; it was, however, the strongest anatomical discriminator between demented and nondemented patients. The area of the corpus callosum was significantly smaller in patients with white matter disease. Our findings suggest that, due to its plasticity, the corpus callosum can to some degree resist distortion in hydrocephalus. Dementia, although statistically related to atrophy of the corpus callosum, is possibly more directly related to white matter disease.
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  • 10
    ISSN: 1432-1920
    Keywords: Sjögren-Larsson syndrome ; Spastic diplegia ; Conduction aphasia ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a case of Sjögren-Larsson syndrome with spastic diplegia and conduction aphasia. MRI demonstrated the white matter changes deep in the cerebral hemispheres. We analyse the MRI findings and compare the results with neuropsychological signs.
    Type of Medium: Electronic Resource
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