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  • 1
    ISSN: 1432-0428
    Keywords: Genetics ; Type 1 (insulin-dependent) diabetes mellitus ; Type 2 (non-insulin-dependent) diabetes mellitus ; HLA ; haptoglobin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Epidemiologic data suggest that having a parent with Type 2 (non-insulin-dependent) diabetes mellitus increases the risk for Type 1 (insulin-dependent) diabetes in siblings of a Type 1 diabetes proband. This increase in risk is consistent with a shared genetic susceptibility between Type 1 diabetes and Type 2 diabetes. We contrast genetic risk factors in three sets of families, consisting of (1) a single Type 1 diabetic child (proband) and non-diabetic parents, (2) multiple Type 1 diabetic siblings and non-diabetic parents, and (3) at least one Type 1 diabetic child and at least one Type 2 diabetic parent. Previous studies have demonstrated that HLA region genes, which elevate the risk in Type 1 diabetes, have no significant effect with respect to the risk for developing Type 2 diabetes. An earlier report cited a contribution by the haptoglobin locus to genetic susceptibility for Type 2 diabetes. We provide evidence that a high risk HLA antigen (HLA-DR3) is decreased to a greater extent in Type 1 patients with a Type 2 parent than in Type 1 patients in which the parents are not diabetic. The role of HLA-DR4 is maintained in these families, with an unexpectedly significant increased rate of transmission of the HLA-DR4 allele from Type 2 parent to Type 1 offspring. The role of haptoglobin in these families does not appear to be important, either with respect to association with diabetes or with respect to linkage with a secondary susceptibility locus. These results indicate that families with a Type 2 parent and Type 1 child, heavily determined by HLA-DR4 linked factors, may represent a homogeneous subset of diabetes susceptibility.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1084
    Keywords: Angiography, digital subtraction ; Lung, radionuclide imaging ; Pulmonary embolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Patients with symptoms of acute pulmonary thromboembolism (APE) of short duration were investigated with digital subtraction angiography (DSA) and ventilation/perfusion lung scintigraphy (V/Q scan), and a standardised clinical evaluation was performed. Forty-six angiograms (96%) were diagnostic at the segmental level and were used as reference. In all V/Q scans classified as normal or of high probability for APE, a complete agreement with DSA was found. In scan categories with low or intermediate probability, where the incidence of APE was 32%, there was considerable inter-observer disagreement. Clinical assessment alone was of limited value, but in patients with low clinical suspicion no APE was found. The results indicate that normal and high probability V/Q scans are very reliable for excluding and identifying APE, respectively, but also that fairly large APE cannot be diagnosed with lung scanning. Subdivision of V/Q scans into more than three categories (normal, high probability and inconclusive) seems to be of no practical value. Using a pulsed sequence technique, high frame rate and central injection, DSA is a valuable clinical tool for diagnosing APE down to the segmental level.
    Type of Medium: Electronic Resource
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