Gene/Protein Disease Symptom Drug Enzyme Compound
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 47,337 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This controlled study examined the characteristics of serologic abnormalities in 52 patients receiving procainamide for cardiac arrhythmias, who had no symptoms of a connective tissue disease. Antinuclear antibodies occurred in 43 patients (83%). Significant elevation of antibody binding to single-stranded DNA (mean +/- SEM 30 +/- 2.6%), double-stranded DNA (13 +/- 1.1%), Z-DNA (optical density 0.54 +/- 0.06), and poly A (7.2 +/- 0.6%) was seen (P less than 0.001). Thirty-four patients (65.4%) had antibodies to total histones, most frequently, the H2A/2B dimer. IgG antibodies to H2A/2B correlated with the cumulative procainamide dose. One patient subsequently developed drug-related lupus.
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PMID:Serologic evaluation of patients receiving procainamide. 138 15

Previous studies have shown an association of sickle cell disease with generalized connective tissue disorders such as pseudoxanthoma elasticum. We recently documented an unexpectedly high prevalence of mitral valve prolapse, a connective tissue disorder, in sickle cell disease. To investigate this association, skin biopsies were analyzed from 32 sickle cell disease patients, 11 of whom had mitral prolapse. Total and type III collagen, collagen solubility, and uronic acid were not different between the patients with or without mitral prolapse (p greater than 0.05). Computerized morphometric quantitation of the volume fraction of elastic fibers was greater in sickle cell disease patients than in 10 normals (3.1 +/- 0.1 mean +/- SEM vs 2.0 +/- 0.3%; p less than 0.01) but less than in three patients with pseudoxanthoma elasticum (9.7 +/- 0.6%; p less than 0.001). Desmosine radioimmunoassay (an index of elastic fibers) was greater in sickle cell disease patients with mitral prolapse than those without (239.3 +/- 9.3 vs 171.7 +/- 25.4 ng/mg wet weight; p less than 0.02). Histopathologic grading showed a similar trend (p = 0.07). The combined probabilities of these three independent tests of elastic fiber quantity showed an increased elastic fiber concentration in mitral prolapse patients compared to those without mitral prolapse (p less than 0.02). Thus, there is no evidence for a specific collagen defect; rather, sickle cell disease appears to be associated with a spectrum of elastic tissue disorders, a feature that could predispose to mitral valve prolapse.
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PMID:Mitral valve prolapse in sickle cell disease: manifestation of a generalized connective tissue disorder. 398 3

The aim of this study was to investigate the biochemical basis of biomechanical and morphological alterations of upper esophageal sphincter, which have been reported in patients with Zenker's diverticulum. 4-L-Hydroxyproline (4-Hyp) (collagen), isodesmosine (Ides), and desmosine (Des) (elastin) contents were measured in samples of cricopharyngeal muscle (CPM) and muscularis propria of the esophagus below the CPM. The specimens were collected from seven patients operated for Zenker's diverticulum and eight cadavers, without esophageal and connective tissue disease, 4-Hyp was assayed colorimetrically, Ides and Des by high-performance liquid chromatography. Mean (+/-SEM) values were compared by Mann-Whitney U test. In patients, collagen content was significantly increased, both in CPM and in the muscularis propria of the esophagus below the CPM (P < 0.05). In CPM, Ides to Des and collagen to elastin ratios were significantly higher in patients than in controls (P < 0.05). Both the CPM and the upper muscular cuff of the esophagus appear to be involved in the pathogenesis of Zenker's diverticulum. This finding supports the extension of the myotomy to the muscularis propria of the esophagus below the CPM. The alterated Ides to Des ratio suggests a primary disease of CPM as a cause of Zenker's diverticulum.
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PMID:Biochemical markers of upper esophageal sphincter compliance in patients with Zenker's diverticulum. 922 26