Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myopathy associated with desmin-type intermediate filaments is an uncommon disorder of skeletal and/or cardiac muscle. The present study focuses on a 28-year-old man with generalized muscular atrophy, cardiomyopathy, and intestinal malabsorption and pseudo-obstruction. Abundant sarcoplasmic granular and filamentous aggregates that were ultrastructurally continuous with Z lines or dense bodies and exhibited intense immunostaining for desmin were present throughout the skeletal musculature, myocardium, and smooth muscle of the intestine. Moreover, neurofilament-immunoreactive axonal spheroids were identified in the spinal cord and roots. These widely distributed findings illustrate the multisystemic character of desmin myopathy, which in this instance first adds intestinal smooth muscle involvement to its already known skeletal and cardiac muscle manifestations. The additional presence of neurofilament aggregates in the spinal cord and roots constitutes an extremely rare conjunction of intermediate filament pathology of the neuromuscular system.
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PMID:Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. 767 86

Brown bowel syndrome is a rare intestinal disorder associated with the deposition of lipofuscin pigment in the smooth muscle cells. We report two such cases presenting with intestinal pseudo-obstruction, abdominal pain, and body weight loss. Both cases had malabsorption and fatty liver. Exploratory laparotomy revealed brownish discoloration of the small bowel wall and enlargement of mesenteric lymph nodes. Light microscopy, autofluorescence and ultrastructure studies confirmed the deposition of lipofuscin pigments in the intestinal muscle cells and reticuloendothelial cells of mesenteric lymph nodes. In addition, the calf muscle biopsy of case 1 displayed myopathy and fatty replacement. Skeletal muscle strength of both patients was partially restored after parenteral and oral vitamin E supplement and other conservative treatment, but gastrointestinal symptoms of both patients continued to deteriorate. Thus, brown bowel syndrome associated with prolonged and severe malnutrition and possibly vitamin E deficiency appears only partially responsive to vitamin E supplementation.
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PMID:Brown bowel syndrome: report of two cases. 791 59

A 32-year-old man with chronic alcoholism over 10 years developed skin eruptions, dark-red tongue and severe watery diarrhea, followed by weakness of bilateral lower extremities. Physical examination revealed hyperpigmented skin eruptions with scales on the dorsa of his hands and extensor aspects of his forearms. Neurological examination showed proximal muscle weakness of both lower extremities, hyperactive knee and ankle jerks, positive Chaddock reflexes and stocking type sensory disturbances. Laboratory data revealed elevation of myolytic enzyme, hypokalemia and decrease of niacin level in the blood. Diagnosis of hypokalemic myopathy and pellagra was made. With the correction of serum potassium level, muscle weakness improved rapidly and with the supplement of niacin, other physical signs and symptoms improved. In this case hypokalemic myopathy could be attributed to the alcoholic malnutritional state such as pellagrous diarrhea, malnutrition, malabsorption and others.
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PMID:[A case of alcoholism presenting pellagra and hypokalemic myopathy]. 812 77

Acute and chronic ethanol ingestion causes a variety of pathological changes in the gastrointestinal tract, including gross morphological lesions and functional changes. We review whether these alterations also include changes in protein turnover, to explain the frequently observed villus atrophy and smooth muscle myopathy. The possibility that different regions of the gastrointestinal tract express diverse sensitivities is explored. Acute ethanol dosage profoundly reduced the synthesis of proteins in proximal regions of the rat gastrointestinal tract, but distal regions were less affected. In response to chronic ethanol exposure, similar regional sensitivities of the intestine were observed. In chronic studies the small intestine effects were characterised by selective losses of RNA, principally from the stomach and jejunum. We speculate whether the effects on protein synthesis were primarily due to ethanol or the consequence of acetaldehyde formation. We also determined whether changes in protein synthesis occurred secondary to alterations in nucleotide composition. The possible mediation by free-radical formation or impaired antioxidant status are also discussed. The overall results indicate that both acetaldehyde and ethanol are potent protein synthetic inhibitors and may contribute to the genesis of intestinal myopathy, possibly contributing towards motility disturbances and secondary malnutrition via malabsorption.
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PMID:Gastrointestinal protein turnover and alcohol misuse. 817 97

The ratio of mtDNA and a nuclear reference gene was estimated by Southern blotting in the skeletal muscle DNA of a 3-year-old girl who suffered from congenital brain damage, focal epilepsy, hepatomegaly, malabsorption syndrome and severe myopathy. The signal ratio of mtDNA versus 18S rDNA was 22% of the mean value obtained from controls. No major deletions or insertions were found and the MERRF, MELAS and NARP mutations were ruled out. Mitochondrial DNA-encoded enzyme activities and mitochondrial respiration were reduced. The analysis of the NAD(P)H and flavoprotein redox states of intact fibres revealed the presence of mitochondrial dysfunction. In tissue sections a moderate elevation of type I and type II fibre diameter variation was detected, aberrant NADH- and succinate dehydrogenase staining and some ragged red fibres. This suggested that a mitochondrial disorder caused by a decrease in the amount of intact wild-type mtDNA was responsible for the severe myopathy.
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PMID:mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy. 970 May 97

We describe a patient with vitamin A deficiency phrynoderma caused by a combination of inadequate dietary intake of vitamin A and beta-carotene and malabsorption secondary to primary visceral myopathy and total colectomy.
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PMID:Vitamin A deficiency phrynoderma: due to malabsorption and inadequate diet. 1042 20

A 34-year-old woman presented with walking difficulty and pain in the legs 3 years after several abdominal operations for pancreatic cancer and intestinal obstruction thereafter. Corneal erosion, loss of deep sensation in the legs, polyneuropathy, myopathy, and memory disturbance were recognized. Deficiency of multiple vitamins (A, B1, B6, D, E, K) was found. The diagnoses were vitamin A-deficient corneal erosion, vitamin K-deficient bleeding abnormality (asymptomatic), and the neurological deficits caused by vitamin E, B1, B6 and D deficiency. Although the vitamin supplement started 2 years after the onset of the neurological disease, both clinical and electrophysiological recovery was seen. She was unable to walk on admission, but became able to walk after vitamin E supplement. To our knowledge, this is the first report showing multi-vitamin deficiency causing extensive neurological, ophthalmological, and hematological deficits. Recognition of this condition would prevent the progression of potentially irreversible neurological disorders in patients with malabsorption syndrome after extensive abdominal surgery.
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PMID:[A case of various neurological deficits caused by multi-vitamin deficiency associated with malabsorption syndrome after pancreatomy and small bowel resection]. 1058 28

We studied two siblings with a mitochondrial myopathy, familial thiamine deficiency, and an A3243G mutation of the mitochondrial DNA (mtDNA). The elder brother (patient 1, now 36 years old) developed myopathy and beriberi heart at 20 years of age. Thiamine therapy resolved the cardiac symptoms and hyperpyruvicemia and improved the myopathy. The younger brother presented aged 19 years with a myopathy (patient 2, now 35 years old). Thiamine deficiency was present in the siblings and parents, and ragged-red fibers (RRFs) were noted in muscle biopsies from the siblings. Analysis 17 years later demonstrated thiamine malabsorption and an A3243G mutation of the mtDNA in both siblings and their mother, progressive myopathy, and an increased number of RRFs and elevated serum CKMB activity in patient 1. Thiamine treatment decreased the serum concentrations of lactate and pyruvate in patient 2, but not patient 1. The role of thiamine in mitochondrial dysfunction caused by an electron transfer disorder in the setting of A3243G mtDNA mutation is discussed.
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PMID:Mitochondrial myopathy and familial thiamine deficiency. 1088 1

A squirrel monkey (Saimiri sciureus) presented with wasting, vomiting and diarrhoea. Haematology revealed elevation of creatinine phosphokinase, lactic dehydrogenase, alanine aminotransferase, amylase and lipase, together with azotaemia and hypoalbuminaemia. Prominent findings were chronic pancreatitis with acinar and ductal plugs, granulomatous and necrotizing peripancreatic steatitis, degenerative myopathy, testicular atrophy, candidiasis and bacterial necrotizing glossitis. Antioxidant analyses revealed low concentrations of serum vitamin E (and apparently A), hepatic selenium and hair zinc. Pancreatitis may have caused malabsorption and maldigestion, associated with deficiency of multiple antioxidants.
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PMID:Antioxidant status in a squirrel monkey (Saimiri sciureus) with chronic pancreatitis and degenerative myopathy. 1103 77

Selenium deficiency is a rare cause of cardiomyopathy that may be encountered by the forensic pathologist. Selenium deficiency is associated with a cardiomyopathy, myopathy and osteoarthropathy. In Asia and Africa, dietary selenium deficiency is associated with a cardiomyopathy known as Keshan disease and an osteoarthropathy called Kashin-Beck disease. Chronic selenium deficiency may also occur in individuals with malabsorption and long term selenium-deficient parenteral nutrition. Selenium deficiency causes myopathy as a result of the depletion of selenium-associated enzymes which protect cell membranes from damage by free radicals. We present a case of fulminant heart failure in a middle aged woman with a complex medical and surgical history including documented malabsorption and selenium deficiency. Pathological examination of the heart showed features consistent with Keshan disease.
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PMID:Fulminant heart failure due to selenium deficiency cardiomyopathy (Keshan disease). 1184 34


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