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

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

Piebaldism, an autosomal dominant trait, is characterized by patchy hypopigmentation of the face, anterior chest, abdomen, and limbs, heterochromia/bicolored irises, congenital megacolon, and deafness. A 4-month-old Inuit (Eskimo) boy with these manifestations also had left pulmonic artery stenosis, ocular ptosis, and unilateral duplication of the renal collecting system. Evidence is presented for both qualitative and quantitative derangement of neural crest derivatives in this syndrome. Histologically, hypoganglionosis, hyperganglionosis, and ectopic ganglia in lamina propria (neuronal colonic dysplasia [NCD]) were documented in the rectum. The appendix, proximal to the clinical transition zone, showed similar dysplasia. In the hypopigmented skin, multiple microscopic sections were devoid of melanocytes, with no melanin in adjacent basal cells. The hyperpigmented skin contained melanin throughout the basal layer, but the melanocytes were unevenly distributed. Most tissues affected in this boy are of neural crest origin; pathogenesis could be due to faulty migration along the established pathways involving either the borders (basal laminae) or the components of the extracellular matrix (fibronectin, cytotactin, laminin, glycosaminoglycans, and collagen). The similarities between piebaldism and the Waardenburg syndromes are discussed.
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PMID:Piebaldism-Waardenburg syndrome: histopathologic evidence for a neural crest syndrome. 226 Jun 12

The present classification of first, second, and third grade hemorrhoids only reflects variation in size of a normal human tissue and does not relate to "hemorrhoidal disease." Cross-sections and coronal sections of the anal canal in 32 fetuses, with ages ranging from 28 to 38 weeks of development, were studied and the following fundamental facts were found: in the lumen of the anal canals of fetuses, there are prominences of mucosa formed by conjunctive and muscular tissue, arterial and venous vessels and glands, arranged without following any particular pattern, which resemble similar formations found in the adult that protrude equally in the inside of the canal, known as hemorrhoids. The muscular tissue, smooth or striated, is grouped in bundles, and bunches of collagen fibers of homogeneous, nonfragmented, and regular aspect are found between them. Blood vessels have an ample lumen with a defined structure of collagen tissue as well as muscular tissue in its walls. Prominences of mucosa are connected to the remainder of the intestinal wall by defined conjunctive thick, nonfragmented fibers, that permit firm adherence. In healthy adults, the findings were similar but there was an evident degenerative process in the collagen fibers. In 100 surgical specimens of hemorrhoidectomies, the histologic investigation demonstrated a severe inflammatory reaction that especially affected the blood vessel wall and conjunctive tissue, which probably produced an ischemic lesion of the mucosa that could condition the onset of a vascular thrombosis, allowing displacement of the mucosa and its protrusion through the anus. The files of 815 patients suffering from hemorrhoidal disease were also studied. The main physical findings were bleeding, thrombosis of the internal hemorrhoidal plexus, prolapse of the anal cushions, or a combination of these. The authors propose to classify hemorrhoidal disease as bleeding, prolapsing, thrombotic, and mixed hemorrhoidal disease, aiming toward a rational treatment.
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PMID:Histoclinical basis for a new classification of hemorrhoidal disease. 337 71

Mitral valve prolapse was sought clinically and with phonocardiography and M mode and sector echocardiography in 15 women aged 22-57 years with joint hypermobility syndrome. The type III:III + I collagen ratio was measured in skin biopsy specimens and was found to be raised in seven of 10 patients sampled. Thirteen patients had increased aortic wall compliance measured by the continuous wave Doppler ultrasound technique. Ten (67%) patients had mitral valve prolapse shown by auscultatory signs or echocardiography or both--a prevalence at least three times greater than that in the general adult population. It is concluded that if the abnormality of collagen biosynthesis found in skin biopsy samples in these patients is also present in their mitral valve tissue this may predispose them to prolapse of the valve.
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PMID:Mitral valve prolapse, aortic compliance, and skin collagen in joint hypermobility syndrome. 390 69

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

A new inherited neuromuscular disease was identified in 4 patients (1 male, 3 females), offspring of consanguineous marriages, belonging to the same kindred. The proband was a 24-year-old female with history of ptosis and ophthalmoplegia since childhood and progressive intestinal pseudo-obstruction for the last 4 years of her life. A sural nerve biopsy showed axonal and demyelinating neuropathy. Muscle biopsies of pectoral and gastrocnemius revealed myopathic alterations with marked variation in muscle fiber size, atrophy of both fiber types and normal mitochondria. An upper gastrointestinal study showed barium in the stomach after 8 h and jejunal diverticula. Tests for absorption of fat, protein, carbohydrate, folic acid and vitamin B12 were normal. Serum levels of vitamin A and lipoproteins were also normal. The patient underwent partial gastrectomy and gastrojejunostomy. Postoperatively, she developed severe pancreatitis, sepsis, peritonitis and expired. Tissue samples from the proband and from her brother, revealed normal mucosa, but degeneration of smooth muscle of the stomach and small intestine. The myenteric plexus and vagus nerves were normal. The biochemical studies of contractile proteins (myosin, actin, tropomyosin) in the fresh and cultured smooth muscle cells of the proband obtained at the time of gastrectomy showed a 50-75% decrease in the synthesis of different contractile proteins. Turnover of contractile proteins and synthesis and turnover of collagen showed normal values. The reduction in synthesis of contractile proteins may account for the weak peristalsis and be a factor in the pathogenesis of the intestinal pseudo-obstruction.
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PMID:Inherited ophthalmoplegia with intestinal pseudo-obstruction. 668 98

Difficulty in rectal emptying, incontinence, solitary ulcer with bleeding, physical finding of lax puborectalis musculature, obtuseness of the anorectal angle, and bulging of the anterior rectal wall into the proctoscope suggest incontinence amenable to puborectalis plication. Puborectalis plication sphincteroplasty is useful in correcting patulousness and incontinence attendant with rectal procidentia, as well as certain cases of lax or nonresponsive puborectalis muscle related to idiopathic collagen disorders. Anorectal burning after correction of patulousness is related to irritable bowel aggravation, as occurred in one of my nine patients. Despite the short follow-up, preliminary results seem to warrant puborectalis sphincteroplasty in selected patients.
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PMID:Puborectalis sphincteroplasty for anal incontinence. 671 Jan 96

One early and two late recurrent herniations located at the same interspace as the original prolapse were studied by light and electron microscopy. In the early recurrent herniation, most chondrocytes appeared to be actively engaged in protein synthesis, and the intercellular matrix contained densely packed collagen fibers, numerous matrix vesicles, and abundant electron-dense amorphous material. In late recurrent herniations, chondrocytes had scant endoplasmic reticulum and extensive cytoplasmic filaments, and the intercellular matrix showed intermediate features between fibrocartilage and fibrous connective tissue. On the basis of these morphologic characteristics, it seems reasonable to assume that the newly formed disc tissue arose mainly from remnants of the original herniation in the early recurrent prolapse and from the annulus fibrous and the granulation tissue invading the disc space after discectomy in the late recurrent herniations.
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PMID:An ultrastructural study of recurrent disc herniation: a preliminary report. 689 Nov 1

Clinical evidence for an abnormally of extracardiac connective tissue was sought in 21 patients with idiopathic mitral valve prolapse and was compared to that in 21 matched controls. The incidence of rheumatic and orthopaedic complaints and the prevalence of hypermobile joints, Marfanoid habitus, and skeletal deformity were compared in the 2 groups. Skin thickness and elasticity were measured, and the mean values in the 2 groups were compared. hypermobile joints were significantly commoner in patients with mitral valve prolapse. Easy bruising was reported significantly more commonly by patients with mitral prolapse; the incidence of other rheumatic complaints was similar in the 2 groups. There was no significant difference in skin thickness, skin elasticity, and the prevalence of either skeletal deformity or Marfanoid habitus between patients with mitral valve prolapse and controls. The results support previous evidence of an association between mitral valve prolapse and benign hypermobility of the joints, but emphasise that many patients with mitral valve prolapse have no clinically apparent connective tissue abnormality outside the heart. It remains uncertain whether the valve lesion in these patients represents a tissue-specific abnormality of mitral valve collagen or the only clinical expression of a minor systemic connective tissue abnormality.
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PMID:Mitral valve prolapse and joint hypermobility: evidence for a systemic connective tissue abnormality? 711 17

The clinical features in a 42 year old man with malignant atrophic papulosis with CNS involvement are described. They included mental dysfunction, paraesthesiae, weakness of left limbs, with pyramidal tract signs, bilateral ptosis, progressing to total ophthalmoplegia and obtundation. There were two crops of characteristic papular lesions on trunk and limbs, with terminal evidence of a coagulopathy and bruises, resulting in death in six months. Papular biopsy revealed multiple microinfarcts in the dermal collagen. The brain showed multiple small haemorrhagic infarcts of both hemispheres, the lower mid-brain, pons and a cerebellar peduncle. Microscopy showed fibrin exudation in the leptomeninges, various stages of thrombosis of small arteries without inflammatory reaction, and corresponding acute and subacute microinfarcts. The pathogenetic basis of the disease appeared to be a combined vasculopathy and coagulopathy.
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PMID:CNS involvement in malignant atrophic papulosis (Kohlmeier-Degos disease): vasculopathy and coagulopathy. 721 73


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