Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A kindred contained at least 18 members with visceral myopathy. Sixteen had symptoms of chronic obstruction of the gastrointestinal or urinary tracts. Of six patients with megaduodenum on contrast roentgenograms, two were asymptomatic. Four patients had redundant colon on barium enema, and four had megacystis. Specimens from duodenum, jejunum, ileum, colon, or urinary bladder from five patients showed thinning and extensive collagen replacement of the longitudinal muscle layer; ganglion cells were normal by light and electron microscopy. Esophageal manometry in three patients showed decreased gastroesophageal sphincter pressures and no contractions in the smooth muscle segment of the esophagus; duodenal manometry showed a low frequency and amplitude of contractions. Three patients developed fever and signs of peritonitis after operations to bypass dilated segments. This seems to be a generalized smooth muscle disease with variable clinical manifestations and with an autosomal dominant or sex-linked dominant mode of inheritance.
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PMID:A familial visceral myopathy. 71 27

We report the histologic and ultrastructural findings on two sisters with familial visceral myopathy who presented with acquired megacolon that necessitated subtotal colectomy. Both patients were mentally retarded and had repeated episodes of constipation and fecal impaction. Each presented near the age of 30 with massive dilatation of the colon and without clinical evidence of small intestinal involvement. Histologic abnormalities primarily involved smooth muscle and included marked nuclear enlargement and irregularity, interstitial fibrosis, and cytoplasmic vacuolation. These changes were most severe in the muscularis propria, but similar abnormalities were found in the muscularis mucosae and blood vessels. In the most advanced stages, collagen had completely replaced the muscularis propria, with extreme thinning of the intestinal wall. Abnormalities were noted in all segments of the colon and the appendix, but there was little correlation between severity of involvement and the segment examined. This study not only confirms the variable nature of morphologic changes in familial visceral myopathy, but also provides evidence of more extensive involvement of intestinal smooth muscle than has been previously reported.
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PMID:Familial visceral myopathy. Evidence of diffuse involvement of intestinal smooth muscle. 367 82

Forty patients with neuromuscular disorders of the gastrointestinal tract were evaluated histologically and radiologically. Eighteen patients with progressive systemic sclerosis had predominant circular muscle thinning and fibrosis. Visceral myopathy (11 patients) was characterized by vacuolar degeneration of the smooth muscle cells with thinning and fibrosis typically affecting the longitudinal layers. Visceral neuropathy (five patients) had degeneration of myenteric plexus neurons with various patients having intranuclear inclusions, Schwann cell proliferation, or inflammatory cell infiltration. Radiologically, these syndromes had diffuse abnormalities of gastrointestinal motor function manifested by small and large intestinal dilatation, esophageal hypomotility (progressive systemic sclerosis and visceral myopathy), or disordered hypercontractility (visceral neuropathy). Marked duodenal enlargement typified visceral myopathy, and although all types may have dilated small intestine, only progressive systemic sclerosis has packing of valvulae. Colonic sacculations were found in progressive systemic sclerosis, lack of haustrations and increased colonic caliber in visceral myopathy, and hypercontractility in visceral neuropathy. Complete barium contrast examination will assist in differentiation of true obstruction from pseudoobstruction, will define the diffuse nature of the syndrome, and will help establish an accurate diagnosis by identifying features specific for these entities.
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PMID:Radiologic and histologic differentiation of neuromuscular disorders of the gastrointestinal tract: visceral myopathies, visceral neuropathies, and progressive systemic sclerosis. 633 63

Two siblings and a first degree cousin of a consanguinous marriage were afflicted with recessive generalized myotonia (RGMy). All had muscle weakness which was particularly prominent after rest, thinning of the forearms, weakness of anterior compartment muscles, and muscular contractures. The first degree cousin was the most severely afflicted with congenital myotonia. Muscle biopsy and electromyography were consistent with a myopathy. Exercise after rest demonstrated a marked reduction in muscle membrane excitability in all patients.
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PMID:Autosomal recessive generalized myotonia. 685 98

A patient is described who had unexplained, vague abdominal pain for 7 years and subsequently presented with worsening pain and mild dilatation of the distal small intestine. Gross examination of a resected ileal segment demonstrated thinning of the muscularis propria. Light- and electron-microscopic examination revealed a myopathy which preferentially involved the external longitudinal layer of the muscularis propria and was characterized by vacuolar degeneration of smooth muscle cells. No inflammatory infiltrate or neural or vascular lesions were present. These features characterize hollow visceral myopathy and differentiate it from other myopathic and degenerative disorders which involve gastrointestinal smooth muscle.
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PMID:Hollow visceral myopathy: a light- and electron-microscopic study. 710 5

A patient with hollow visceral myopathy is reported in whom light microscopical studies of the small and large intestine showed typical features of degeneration, thinning, and fibrous replacement of smooth muscle of the gastrointestinal tract. Electron microscopy showed a striking increase in collagen with minimal fibroblast proliferation. Smooth muscle fibres had a range of ultrastructural abnormalities including myofilament disarray, electron lucency of the cytoplasm, and proliferation of the endoplasmic reticulum. Some fibres seemed to have typical ultrastructural characteristics of myofibroblasts, and others to be transition forms between typical smooth muscle cells and typical myofibroblasts. It seems likely that the fibrosis typical of this disorder has its origin in the transformation of smooth muscle fibres from a purely contractile to a myofibroblast collagen synthetic phenotype.
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PMID:Myofibroblasts in hollow visceral myopathy: the origin of gastrointestinal fibrosis? 834 91

Decompensated eccentric ventricular hypertrophy characterizes the transition from compensated pressure or volume over-load hypertrophy to myocardial dysfunction and failure. Myocyte loss is the major etiologic factor of wall thinning and chamber dilation and may condition the progression of the cardiac myopathy. Myocyte death can occur by apoptosis or necrosis, but the activation of the suicide program of myocytes exceeds necrotic cell death in the pathologic heart of ischemic origin. Whether reactive fibrosis constitutes a primary event in the initiation of ventricular dysfunction or a secondary reaction to myocyte death is an important unanswered question.
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PMID:Myocyte death in heart failure. 883 66

A 45-yr-old man with primary pigmented nodular adrenocortical disease (PPNAD) is described. This patient underwent unilateral adrenalectomy for ACTH-independent Cushing's syndrome (CS) in 1969. Although his daily urinary free cortisol (UFC) excretion rate normalized, and the major clinical manifestations of CS subsided, loss of a circadian cortisol rhythm persisted after surgery. Twenty-seven years later, the patient presented again with short stature, severe osteopenia, skeletal deformities, thinning of the skin, and myopathy.
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PMID:Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy. 910 Jun 6

A 43 year old male presented with slowly progressive weakness of limbs and hypertrophy of triceps, brachioradialis and calf muscles for four years. There was thinning of quadriceps muscles in both thighs. Histological study was compatible with Becker muscular dystrophy (BMD). Genomic DNA analysis showed a deletion of the Hind III fragments, spanning exons 45-47. A junction fragment of 11.0 kb was observed along with a deletion of a 3.4 kb PstI fragment containing exon 51 in the patient, and in one of his two sisters. The clinical and laboratory characteristics in this patient are in keeping with what has been described 'quadriceps myopathy' and fall within the phenotypic variants of BMD as has been shown by others.
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PMID:Detection of deletion in the dystrophin gene of a patient with quadriceps myopathy. 1075 17

Golden Retriever muscular dystrophy is an inherited, degenerative myopathy due to the absence of dystrophin and is used as a model of Duchenne muscular dystrophy of young boys. This report describes the radiographic abnormalities of Golden Retriever muscular dystrophy in 26 dogs. The thoracic abnormalities included diaphragmatic asymmetry (18/26), diaphragmatic undulation (18/26), and gastro-esophageal hiatal hernia (6/26). Pelvic abnormalities included narrowing of the body of the ilia (14/19), ventral deviation and curvature of the tuber ischii (14/19), elongation of the obturator foramen with a decrease in opacity of the surrounding bone (12/19), and lateral flaring of the wings of the ilia (12/19). Abdominal abnormalities consisted of hepatomegaly (14/22) and poor serosal detail (12/22). The unique thoracic abnormalities were a consistent finding in affected Golden Retriever muscular dystrophy dogs. The diagnosis of muscular dystrophy should be included in the differential list if the combination of diaphragm undulation and asymmetry, and gastro-esophageal hiatal hernia are identified. These diaphragmatic abnormalities are related to hypertrophy and hyperplasia of the diaphragm. Additionally, the skeletal changes of pelvic tilt, elongation of the pelvis, widening of the obturator foramina and thinning of the ischiatic tables appear to be specific to Golden Retriever muscular dystrophy in dogs. These pelvic abnormalities are most likely secondary to bone remodeling associated with the progressive skeletal myopathy and subsequent contracture/fibrosis.
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PMID:Radiographic features of Golden Retriever muscular dystrophy. 1715 67


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