Genotyping method for point mutation detection in the endothelial nitric oxide synthase exon 7 using fluorescent probes. Clinical validation in systemic sclerosis patients.
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Biomedical subjects
Publications and source records attributed to W Porreca.
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The release of vasoactive substances produces reversible changes of endothelial permeability with consequent edematous syndromes. We present 899 patients referred to our clinic for "non-hydrostatic non-hyponcotic" recurrent edema problems. Personal and family histories were recorded and a complete physical examination was carried out for each patient. In chronic situations laboratory tests [blood cell count, cryoglobulins, thyroid hormones, complement components (C3, C4, C1 inhibitor), total IgE, skin testing] were performed. Four subgroups of angioedema are identified for relevant clinical and etiopathogenetic differences. Seventy-three percent of patients had an urticaria-angioedema syndrome responding to antihistamine and/or corticosteroid treatment (histamine-dependent angioedema). Twenty-three percent had an angioedema related to a deficiency in C1 esterase inhibitor (complement-dependent angioedema). In a minority of patients, angioedema was due to the pharmacological effect of a drug (pharmacological angioedema) or was of a totally unknown origin (idiopathic angioedema). A generalized increase in vascular permeability was reported in 3 patients (systemic capillary leak syndrome). A brief survey of the literature is given with the review of our patients.