The most distinguishing serologic feature of antiphospholipid syndrome (APS) is the moderate to high blood titers of antiphospholipid-binding antibodies (aPL). The pathogenic mechanisms of APS are poorly understood, but may occur as a result of the interaction between anticardiolipin antibodies (aCL), beta-2 glycoprotein-I (beta(2)GP-I) (the aCL cofactor) and blood platelets. However, the relationship between aCL/beta(2)GP-I complexes and platelet aggregation has yet to be clearly elucidated. This article will briefly review aPL, beta(2)GP-I and platelet physiology with respect to recent hypotheses relating aCL/beta(2)GP-I complexes and platelets.
Summary. The sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) profiles of an easily and rapidly prepared soluble protein fraction were used in conjunction with conventional techniques to identify different strains of Mycobacterium tuberculosis, M. bovis, M . bovis BCG, M . africanum, M. avium, M . kansasii, M . marinurn, M . gastri, M . simiae and M . malmoense. Complete concordance of results from both methods was obtained with all species except those of the M. tuberculosis complex. With the SDS-PAGE technique, all strains of the M. tuberculosis complex were recognised as belonging to one species. By visual analysis of the SDS-PAGE polypeptide profiles, only minor differences between strains of the same species were seen and each species showed a characteristic polypeptide profile. Quantitation of the data by calculation of the Dice coefficient of similarity of the band positions obtained by densitometry indicated that the similarity between different strains of one species was 90-100% and the similarity between the species was in the range 30-45%. The results indicate that SDS-PAGE is a simple and rapid method for identifying mycobacterial strains.
Fraser syndrome (MIM 219000) is a rare genetic disorder with major features including cryptophthalmos, syndactyly, and genital anomalies. We report 2 independently autopsied children of the same nonconsanguineous parents. The siblings exhibit similar clinical features, all of which are consistent with a diagnosis of Fraser syndrome. The gross and microscopic findings provide insight into the highly variable clinical presentation of Fraser syndrome. Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome. This raises the possibility that other genes or undetected mutations in the FRAS1/FREM2 genes may cause Fraser syndrome.
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