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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Varicose vein disease is a frequently occurring pathology with multifactorial causes and a genetic component. An intense remodelling of the varicose vein wall has been described and could be at the origin of its weakness and altered elasticity. We have described previously a dysregulation of collagen synthesis in cultured smooth muscle cells from saphenous veins and in dermal fibroblasts from the skin of patients with varicose veins, suggesting a systemic defect in their connective tissue. The present study describes comparative morphological and immunohistochemical data in both the skin and saphenous veins of eight control subjects (undergoing coronary bypass surgery) and eight patients with varicose veins. Histological staining of glycoproteins, the elastic fibre network and collagen bundles showed that the remodelling and fragmentation of elastic fibres observed in varicose veins were also present in the skin of the patients. When compared with control subjects, we observed in both the veins and skin of patients with varicose veins (i) an increase in the elastic network, as quantified by image analysis; (ii) an accumulation of collagen type I, fibrillin-1 and laminin; and (iii) an overproduction of MMP (matrix metalloproteinase)-1, MMP-2 and MMP-3, analysed by immunohistochemistry, but normal levels of other MMPs (MMP-7 and MMP-9) and their inhibitors (TIMP-1, TIMP-2 and TIMP-3). An imbalance of extracellular matrix production/degradation was thus observed in veins as well as in the skin of the patients with varicose veins and, taken together, these findings show that remodelling is present in different organs, confirming systemic alterations of connective tissues.
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PMID:Comparison of extracellular matrix in skin and saphenous veins from patients with varicose veins: does the skin reflect venous matrix changes? 1702 May 41

Varicosity is a complex venous pathology affecting the lower extremities. The exact etiology and physiopathology of varicose vein disease remain, however, unclear. Several theories exist from incompetence of the valves to a disturbance of the smooth muscle cells (SMC) and extra-cellular matrix (ECM) organization providing a weakness of the venous wall. Multiple studies have been performed to explain the underlying mechanisms of varicosity inducing alterations in the expression patterns of the endothelium, SMC, and ECM. In that respect, most attention has been focused on the alteration of the endothelium due to blood stasis and hypoxia inducing migration/proliferation of the medial SMC into the intima. Also, studies in the deformation of the ECM induced by alterations of the expression patterns of the metalloproteinases (MMP) and their inhibitors (TIMPs) have been put forward to explain the etiology of varicosity. However, less attention has been paid to the hormonal changes that occur during pregnancy and menopause, crucial factors to be involved in the etiology of varicosity. Since alteration of the estrogen receptor-b (ERb) expression could enhance directly the cellular volume of SMC and thus the disorganization of the contractile-elastic units, hypertrophy of SMC must be accounted a pivotal role that could induce the weakness of the venous wall. Altogether, this review summarizes an overview of the latest findings of varicosity with respect to the histopathological changes of the different cellular components of the varicose vein wall related to functional and morphologic alterations.
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PMID:The histopathology of varicose vein disease. 1706 76

The distal myopathies are a group of rare diseases that in the past were primarily classified by eponyms. Classification criteria were the beginning of the disease, the distribution of the muscle weakness, the course of the disease, the prognosis, and histological changes in the muscle biopsy. Advances of molecular genetics have identified various genes and mutations in many of the clinical phenotypes. This led to modifications and extensions of the existing clinical classification. Our own study on 42 patients with distal myopathy including 15 patients from six families with matrin-3 mutation suggests that in distal myopathies (1) there seem to be no monogenetic classical phenotypes; (2) there are phenotypes with different genotypes and (3) phenotypes with genotypes that are usually associated with other than distal phenotypes. Some of these phenotypes could not be classified according to the traditional clinical classification. In matrin-3 associated myopathy most but not all patients had predominant distal weakness. Also in the initial families distal weakness myopathy was associated with vocal cord and pharyngeal weakness, this was observed in half of our patients. Three of 15 patients met the criteria of Welander-phenotype. The recent classification by Udd distinguishes major groups of myopathies based on age of onset, mode of inheritance, and morphological changes in muscle biopsy. In many but not all subforms of these major groups the genotype has been established so far.
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PMID:Distal myopathies: from clinical classification to molecular understanding. 2384 31