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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The biopsy diagnosis of prolapsing rectal mucosa syndrome can be difficult. We present two newly described features--'diamond-shaped' crypts and mucosal elastin--which appear to be helpful in histological diagnosis. Of 32 biopsies of prolapsing rectal mucosa syndrome, all showed diamond-shaped crypts or mucosal elastin, and 28 contained both. Control biopsies comprised cases of normal or irritable bowel syndrome (46), irradiation colitis and ischaemic colitis (16), inflammatory bowel disease (26), and adenomas (30). Mucosal elastin and 'diamond-shaped' crypts with distinctive scalloped edges, which were never seen in prolapse, were observed in half the cases of irradiation and ischaemic colitis. Diamond-shaped crypts were seen in one case of inflammatory bowel disease. Diamond-shaped crypts and elastin were seen in the base of adenomas large enough to cause localized prolapse, and in four biopsies from patients with irritable bowel syndrome, all of whom had given a history of straining at stool.
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PMID:'Diamond-shaped' crypts and mucosal elastin: helpful diagnostic features in biopsies of rectal prolapse. 222 37

Pectus excavatum is a common malformation in diseases of elastic tissue (Marfan, Ehlers-Danlos...). When observed apparently alone it may represent a minor form of dystrophy, implying the same risk of a cardiac lesion. Abnormalities of the thoracic skeleton and echocardiographic mitral valve prolapse is a well established association, suggesting a common disorder of connective tissue. However, there is no absolute proof that this is a statistically significant association. Histological connective tissue changes relating these two markers have yet to be found. Clinical and echocardiographic examinations and skin biopsies were performed in 17 patients with pectus excavatum. Mitral valve prolapse was detected in 65% of cases (associated in 1 out of 3 cases with tricuspid valve prolapse). In 53% of cases electron microscopy showed abnormal skin collagen and elastin. Collagen abnormalities were twice as common as those of elastin and could be associated. Mixed changes of thinning of elastin and collagen fibres of irregular calibre were particularly suggestive. Pectus excavatum would therefore seem to be the expression of a minor form of dystrophy of collagen and elastin tissues and a clinical marker of possible mitral valve prolapse.
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PMID:[Mitral valve prolapse and pectus excavatum. Expressions of connective tissue dystrophy?]. 309 Sep 60

Histologic, immunohistochemical, and ultrastructural studies were performed on 12 floppy mitral valves, 4 mitral valves showing focal myxomatous changes without prolapse, and 3 normal mitral valves. All floppy mitral valves were thickened by deposits of proteoglycans and also showed diverse structural abnormalities in collagen and elastic fibers. From these observations we conclude that (1) the structure of all major components of connective tissue in floppy mitral valves is abnormal; (2) alterations in collagen and accumulations of proteoglycans are nonspecific changes that may be caused by the abnormal mechanical forces to which floppy mitral valves are subjected because of their excessively large surface area; (3) the presence of excessive amounts of proteoglycans may interfere with the normal assembly of collagen and elastic fibers; (4) abnormalities of elastic fibers resemble those in other conditions characterized by structural dilatation or tissue expansion; and (5) alterations in elastin could result from defective formation, increased degradation, or both.
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PMID:Abnormalities in elastic fibers and other connective-tissue components of floppy mitral valve. 775 47

'Cap polyposis' is a poorly recognised condition with distinct clinical, sigmoidoscopic, and pathological features that may be confused with other inflammatory conditions of the large intestine including pseudomembranous colitis and idiopathic chronic inflammatory bowel disease. The pathogenesis is unknown but on the basis of the characteristic histological appearances, which are similar to those seen in situations where mucosal prolapse is the underlying mechanism, it has been suggested that the latter may be an important aetiological factor. Two cases are described. Histological features in the first (presence of intramucosal elastin) and clinical features in the second (rectal prolapse) support the above hypothesis.
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PMID:Cap polyposis--an unusual cause of diarrhoea. 849 8

Myxomatous mitral-valve prolapse (MMVP), also called Barlow disease, is a common cardiac abnormality and affects up to 5% of the population. It is characterized by an excess of tissue that leads to billowing of the mitral leaflets, sometimes complicated by prolapse. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Previous reports have proposed an autosomal dominant inheritance of the trait, with age- and sex-dependent expression. By systematic echocardiographic screening of the first-degree relatives of 17 patients who underwent mitral-valve repair, we have identified four pedigrees showing such an inheritance. Genomewide linkage analysis of the most informative pedigree (24 individuals, three generations) showed a significant linkage for markers mapping to chromosome 16p, with a two-point maximum LOD score for D16S3068 (Zmax=3.30 at straight theta=0). Linkage to D16S3068 was confirmed in a second family (Zmax=2.02 at straight theta=0) but was excluded for the two remaining families, thus demonstrating the genetic heterogeneity of the disease. Multipoint linkage analysis performed, with nine additional markers, on the two families with linkage gave maximum multipoint LOD scores of 5.45 and 5.68 for D16S3133, according to a conservative and a stringent model, respectively. Haplotype analysis defined a 5-cM minimal MMVP-1 locus between D16S3068 (16p11.2) and D16S420 (16p12. 1) and a 34-cM maximal interval between D16S404 and D16S3068 when recombination events were taken into account only in affected individuals. The identification of this locus represents a first step toward a new molecular classification of mitral-valve prolapse.
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PMID:Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. 1052 Dec 88

Elastic fibers are components of the extracellular matrix and confer resilience. Once laid down, they are thought to remain stable, except in the uterine tract where cycles of active remodeling occur. Loss of elastic fibers underlies connective tissue aging and important diseases including emphysema. Failure to maintain elastic fibers is explained by a theory of antielastase-elastase imbalance, but little is known about the role of renewal. Here we show that mice lacking the protein lysyl oxidase-like 1 (LOXL1) do not deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation. Distinct from the prototypic lysyl oxidase (LOX), LOXL1 localizes specifically to sites of elastogenesis and interacts with fibulin-5. Thus elastin polymer deposition is a crucial aspect of elastic fiber maintenance and is dependent on LOXL1, which serves both as a cross-linking enzyme and an element of the scaffold to ensure spatially defined deposition of elastin.
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PMID:Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. 1474 49

This report describes a patient with Costello syndrome associated with moyamoya-like vasculopathy. His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with deep palmar and plantar creases, bilateral cryptorchidism, and delays in growth and development. Brain magnetic resonance imaging and cerebral angiography revealed moyamoya-like vasculopathy. A skin biopsy from the extensor surface of the right thigh revealed shortening and rupture of elastic fibers. Electron microscopy indicated reduced depositions of elastin. Formation of a stable elastic fiber system may be impaired in patients with Costello syndrome, and brain magnetic resonance imaging and magnetic resonance angiography would be recommended for these patients.
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PMID:Costello syndrome showing moyamoya-like vasculopathy. 1586 41

To investigate the changes in the connective tissues located in the upper portion of the anterior vaginal wall, which are associated with anterior vaginal wall prolapse, 23 women with anterior vaginal wall prolapse were included in the study group and 15 women with normal genital support served as control group. The anterior vaginal wall tissue samples were obtained for immunohistochemical staining of collagen (type I, III, IV, V, VI), elastin, and glycoproteins from the extracellular matrix (fibronectin, vitronectin, laminin). The number of capillaries per arteriole and mitochondria numbers per smooth muscle cell were evaluated for demonstrating whether the anatomical prolapse affect on blood supply to these tissues. Collagen III was significantly less in the anterior vaginal wall of patients with anterior vaginal wall prolapse. Quantitative immunoreactivity of collagen I and III had significant positive correlations with ageing.
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PMID:Changes in the extracellular matrix in the anterior vagina of women with or without prolapse. 1654 86

Improved knowledge of mitral valve (MV) mechanics is essential to understanding normal MV function and design; however, there is limited information about the mechanical properties of the MV during physiologic loading. These studies utilized different techniques to characterize the mechanical properties of the MV. Histological techniques were used to examine collagen, elastin, and cellular distribution on the chordae. Vessels were observed in both the longitudinal and circumferential directions. The presence of vessels characterize the chordae as complex living components that must work with the PM and MV leaflets to prevent MV prolapse and regurgitation. Force and strain distribution on the chordae and anterior leaflet were measured in a pathological papillary muscle (PM) positions. Tension distribution results showed that the intermediate chords on their respective leaflets. The slack PM position led to a delay in complete valve closure and more rapid leaflet loading in late systole. The chordae showed physiological strains, reaching maximum strain during valve closure. The in vitro studies demonstrated that chordal force distribution and valve function depend on the mechanical environment of the valve and the geometric relationships between its components.
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PMID:Mechanics of the mitral valve: in vitro studies. 1727 Nov 4

Cutis laxa (CL) is an extremely inherited or acquired connective tissue disorder characterised by a markedly reduced systemic elastin content. Genital abnormalities in patients with CL have been rarely reported. We report such a case in a 48-year-old CL patient affected by genital prolapse, focusing on immunohistological and molecular biology assessment of elastin and collagen type I, III, VI content in the main uterine ligaments. The woman was referred to our department for the onset of a rapidly progressing genital prolapse and urinary incontinence. The patient underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy and sacrocolpopexy. Punch biopsies from both cardinal and uterosacral ligaments revealed a dramatic reduction in elastin and an increase in collagen type VI content. The present report seems to underline the central role exerted primarily by elastin in the supportive connective tissue and might contribute to the knowledge of extracellular matrix abnormalities at the basis of genital abnormalities in CL patients.
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PMID:Association of cutis laxa and genital prolapse: a case report. 1745 26


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