PURPOSE: To determine the usefulness of fluorescein angiography in studying Takayasu disease. METHODS: We examined 31 eyes in 16 patients with Takayasu disease using indirect ophthalmoscopy, color photography, and fluorescein angiography. Ophthalmoscopic and fluorescein angiographic findings were compared. RESULTS: Fluorescein angiography revealed no additional retinal changes in 10 eyes that had no retinal vein dilatation as seen by indirect ophthalmoscopy. Seven (33%) of 21 eyes that had dilated retinal veins also had additional abnormal findings, such as microaneurysms, arteriovenous shunts, retinal neovascularization, and avascular areas. Some differences in grading the stages of retinopathy were noted with these newly found retinal changes, as compared with the classifications determined by ophthalmoscopy alone. CONCLUSIONS: In Takayasu disease, studying the fundus of patients with fluorescein angiography is particularly important in correctly classifying the stages of retinopathy when the retinal vein appears dilated in ophthalmoscopic observation.

Adult↗

PubMedDate not supplied

Selective formation of oxindole- and formylkynurenine-type products from tryptophan and its peptides treated with a superoxide-generating system in the presence of iron(III)-EDTA: a possible involvement with iron-oxygen complex.

The oxygenation of tryptophan and its peptides by the superoxide-generating system hypoxanthine/xanthine oxidase in the presence of iron(III) and ethylenediaminetetraacetic acid (EDTA) has been investigated. The reaction of a tryptophan derivative, N-(tert-butoxycarbonyl)-L-tryptophan, with hypoxanthine/xanthine oxidase/Fe(III)-EDTA mainly resulted in the oxygenation of the pyrrole ring of the indole nucleus. 2-[(tert-Butoxycarbonyl)-amino]-3-(3-oxindolyl)propionic acid and N-(tert-butoxycarbonyl)-N'-formylkynurenine were identified as the major products. Similar oxindole- and formylkynurenine-type products were also obtained from the N-(tert-butoxycarbonyl) derivative of the tryptophan-containing peptides Ile-Trp, Trp-Leu, Gly-Trp-Leu, and Ala-Trp-Ile. In all cases, however, hydroxylation products of the benzene ring of the indole nucleus were scarcely detected, leading to the assumption that free hydroxyl radical did not play a role in the tryptophan oxidation of this system. Of interest was the fact that the reaction of N-(tert-butoxycarbonyl)-L-tryptophan with H2O2/horseradish peroxidase mainly afforded the same oxindole- and formylkynurenine-type products as those obtained in the hypoxanthine/xanthine oxidase/Fe(III)-EDTA system. Taken together, iron-oxygen complex-type active species may play a role in the tryptophan oxygenation in a superoxide-generating system in the presence of iron-EDTA.

Amino Acid Sequence↗

PubMedDate not supplied

alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

A deficiency in the plasma protease inhibitor alpha 1-antitrypsin can cause chronic obstructive emphysema or infantile liver cirrhosis. This deficiency results from a single amino acid substitution created by a G to A transition in the gene for alpha 1-antitrypsin. Chemically synthesized specific oligonucleotide probes (19-mer) have been used to develop a sensitive and direct test for the presence or absence of the mutant gene in any individual, which can be used for prenatal diagnosis of the deficiency syndrome.

Base Sequence↗

PubMedDate not supplied

Application of synthetic oligonucleotides to detect DQ beta genes transmission within insulin-dependent diabetes families.

Class II antigen genes encoded by the major histocompatibility complex region (HLA-D region) in man play an important role in susceptibility to insulin dependent diabetes mellitus (IDDM). Evidence suggests that the DQ subregion within the HLA-D region is more directly responsible for susceptibility to IDDM. Therefore, we designed a synthetic oligonucleotide specific for the DQ beta gene to further the understanding of the disease association with HLA-D region genes at the molecular level. Restriction fragment length polymorphism (RFLP) analysis was carried out using DNA isolated from nine families, each including at least two affected siblings (a total of 37 siblings). The segregation pattern of hybridizing fragments showed that: (1) for each of the DR2, DR3, and DR4 specificities, two different alleles can be identified by the DQ beta probe; (2) a 1.9 kb-Taq 1 fragment with the DR4 specificity and a 6.0 kb-Taq-1 fragment within the DR2 specificity tend to cosegregate with IDDM; (3) there was no preferential segregation of the two alleles detected within the DR3 specificity (one allele identified by a 4.7 kb-Taq 1 fragment is quite common among individuals with the DR3 specificity). The results from this study add to the evidence that certain DQ alleles appear to be more directly associated with the diabetogenic gene (or genes) in certain DR specificities.

Alleles↗