Biomedical subjects
Publications and source records attributed to C Bertini.
We used volume rendering technique (VRT) for generating three-dimensional (3D) images of the vasculature from spiral computed tomography (CT) data sets. This paper describes the methods used for volume rendering and focuses on the specific aspects of volume rendering as applied to vascular imaging.
BACKGROUND: Autosomal dominant butterfly-shaped macular dystrophy is associated with different mutations of the peripherin/RDS gene. We studied the phenotype of two families with a novel large deletion in the peripherin/RDS gene. METHODS: Clinical study, fluorescein angiography, color vision testing, automatic perimetry, electrophysiologic studies, and DNA analysis were performed on all the members of the two families. RESULTS: Fundus examination in patients aged 30 to 60 years showed yellow deposits in the macula with a butterfly-shaped pattern. Central choroidal atrophy was present in the older patients only. Macular visual function tests (color vision and central visual field) were abnormal, and electro-oculograms were slightly subnormal in five individuals tested. Electroretinograms and results of dark adaptometry were normal. Linkage analysis with intragenic polymorphic markers and quantitative polymerase chain reaction showed heterozygosity for a large deletion that removed exons 2 and 3 of the peripherin/RDS gene in all affected members of two families. CONCLUSIONS: This deletion escaped detection by direct analysis of amplified exons and was identified by intragenic polymorphic markers analysis, resulting in loss of heterozygosity from affected parents to affected children, and by quantitative polymerase chain reaction. The delineation of the molecular defect associated with the disease in these two families allows us to verify the presence or absence of the disease in clinically unaffected members.
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We analyzed mutations and defined the chromosomal haplotype in 127 patients and Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 Turks, and 6 Albanians. Haplotypes were derived by use of the microsatellite markers D13S301, D13S296, D13S297, and D13S298, which are linked to the WD locus. There were five common haplotypes in Sardinians, three in Italians, and two in Turks, which accounted for 85%, 32%, and 30% of the WD chromosomes, respectively. We identified 16 novel mutations: 8 frameshifts, 7 missense mutations, and 1 splicing defect. In addition, we detected the previously described mutations: 2302insC, 3404delC, Arg1320ter, Gly944-Ser, and His1070Gin. Of the new mutations detected. two, the 1515insT on haplotype I and 2464delC on haplotype XVI, accounted for 6% and 13%, respectively, of the mutations in WD chromosomes in the Sardinian population. Mutations H1070Q, 2302insC, and 2533delA represented 13%, 8%, and 8%, respectively, of the mutations in WD chromosomes in other Mediterranean populations. The remaining mutations were rare and limited to one or two patients from different populations. Thus, WD results from some frequent mutations and many rare defects.
BACKGROUND AND PURPOSE: Information on predictors of long-term change in functional capacity after a rehabilitation program in stroke patients is scant. This study describes the long-term evolution of self-reported functional ability after discharge from rehabilitation and its relation with age, level of neural impairment at discharge, and changes in neural impairment during follow-up. METHODS: Fifty patients (31 men and 19 women; mean +/- SD age, 66.0 +/- 9.9 years; range, 47-86 years) with a first unilateral stroke and no severe cognitive impairment were consecutively enrolled. Self-reported disability in activities of daily living and neural impairment measured by the Fugl-Meyer Scale were evaluated after discharge from a rehabilitation program and 3 and 6 months later. RESULTS: Functional disability was significantly reduced after 3 and 6 months. Attenuation of disability occurred mainly among those patients with more severe baseline neural impairment. In this group, patients aged > or = 65 years were more disabled at baseline than younger individuals, but they had the same rate of improvement. In patients aged < 65 years, changes in disability over time could be attributed to changes in neural function, whereas older patients' functional recovery was greater than that expected from their improvement in neural impairment alone. CONCLUSIONS: These results suggest that in stroke patients with severe neural damage further functional improvement occurs even after completion of a rehabilitation program. There is evidence that older patients may be more likely to employ compensatory strategies to overcome some of the neural impairment that remains after stroke.
The transcription factor GATA-1 is expressed in a subset of hemopoietic cells, where it mediates the cell-type specific expression of several genes. We have cloned the mouse and human GATA-1 genes. A region upstream to the first exon, and highly conserved between mouse and man, acts as an erythroid specific enhancer in transient assays, if linked to the GATA-1 or to the SV40 promoter. The activity of the enhancer is almost completely dependent on the integrity of a dimeric GATA-1 binding site.
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