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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. A recent study suggested that a dodecamer duplication in exon 42 of the HOPA gene in Xq13 may be a significant factor in the etiology of X-linked mental retardation. In an effort to investigate this possibility, we determined the incidence of the dodecamer duplication in cohorts of non-fragile X males with mental retardation from three countries, cohorts of fragile X males from two countries, 43 probands from families with X-linked mental retardation and control cohorts from three countries. The duplication was found in 3.6–4.0% of male patients from two non-fragile X groups (Italy and South Carolina), in 1.2% from another non-fragile X group (South Africa), but in no male patients from families with X-linked mental retardation (South Carolina). The dodecamer duplication was also found in several white males with fragile X syndrome from France (5%) and South Africa (22.2%). Additionally, the duplication was found in 1.5% of South Carolinian newborn males, 2.5% South Carolinian male college students, 5% Italian male controls and 4.5% of the white South African controls. None of the black South African non-fragile X individuals with mental retardation, the fragile X or the control samples tested carried the duplication, suggesting that the duplication is rare in the black South African population. The incidence of the duplication was not significantly different between any of the groups in the study. Therefore, results of our studies in four different populations do not corroborate the findings of the previous study, and indicate that the HOPA dodecamer duplication does not convey an increased susceptibility to mental retardation.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1238
    Keywords: Vascular catheters ; Risk factors ; Bacterial contamination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aerobic, anaerobic and fungal cultures were performed on 70 vascular catheters from 57 non-infected patients. Despite the exclusion of any patient who developed non-catheter-related foci of infection, 46% of all cannulae became contaminated, usually with relatively non-pathogenic organisms. Multiple organisms were observed in one-third of all infected catheters, and six patients developed probable catheter related bacteraemia. Of the risk factors studied, only duration of placement exceeding 3 days was significant. Obsessive aseptic measures did not reduce the rate of contamination.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1573-0743
    Keywords: pulmonary vascular disease ; intravascular ultrasound
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To assess the ability of intravascular ultrasound (IVUS) to image changes in the pulmonary arterial wall associated with pulmonary hypertension (PHT), 10 subjects requiring diagnostic right and left heart catheterization were studied. In addition to measurements of pulmonary artery pressure and pulmonary vascular resistance and pulmonary angiography, when indicated, all underwent simultaneous IVUS imaging in the pulmonary arterial system using a 20 MHz ultrasound transducer mounted on a 2 mm diameter catheter. Four patients had normal pulmonary artery pressures and 6 had varying degrees of PHT. Satisfactory ultrasound images were obtained in 9 out of the 10 patients. In those with normal pulmonary artery pressures ultrasound showed a thin vessel wall with no destinction between separate layers. In patients with systemic PHT, a threelayered vessel wall was apparent and areas compatible with intimai proliferation were seen. In a patient with pulmonary embolic disease areas consistent with mural thrombus were detected at sites of luminal narrowing on the pulmonary angiogram. IVUS is capable of imaging some of the morphological changes in the wall of the pulmonary artery known to occur in longstanding PHT and may therefore become a useful adjunct to haemodynamic measurements and pulmonary angiography for thein vivo assessement of pulmonary vascular disease.
    Type of Medium: Electronic Resource
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