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)

An 8-yr-old intact male Grant's zebra (Equus burchelli bohmi) was referred to the Veterinary Medical Teaching Hospital of the University of California-Davis after being found in the owner's pasture obtunded and in lateral recumbency. The animal was hypothermic, weak, and unwilling to rise. There was no evidence of trauma, and the zebra had seemed normal the preceding evening. There was no extensor rigidity, and cranial nerve reflexes were normal. Flexor and extensor reflexes were weak upon initial examination. A complete blood count and serum biochemistry analysis revealed a mild leukocytosis, hyperfibrinogenemia, hypoglycemia, hyponatremia, hypochloremia, hypocalcemia, and hypoalbuminemia. Urinalysis was normal, and a urine toxicology screen for alkaloids was negative. No toxic substance was found in the hay or pasture grasses although the owner reported the presence of yellow star thistle and mushrooms in the pasture. The cerebrospinal fluid cytologic and biochemical analyses were normal, but antibodies to Sarcocystis neurona were detected. The zebra died despite aggressive supportive therapy over a 4-day period. The necropsy demonstrated severe gastrointestinal nematodiasis that could account for hypoalbuminemia and electrolyte abnormalities. Histopathologic examination of the nervous system revealed focal areas of perivascular cuffing in the brainstem that were comprised mainly of lymphocytes, monocytes, and plasma cells. Immunohistochemical staining identified the presence of S. neurona merozoites associated with the lesions. This zebra probably died from severe endoparasitism that resulted in malabsorption, weakness, and recumbency rather than from encephalitis associated with S. neurona merozoites. Equine protozoal myeloencephalitis has not been reported previously in nondomestic equids.
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PMID:Detection of Sarcocystis neurona in the brain of a Grant's zebra (Equus burchelli bohmi). 1088 30

Microsomal triglyceride transfer protein (MTP) is a dimeric protein complex consisting of protein disulfide isomerase and a unique 97 kDa subunit. In vitro, MTP accelerates the transport of triglyceride, cholesteryl ester, and phospholipid between vesicles. It was recently demonstrated that abetalipoproteinemia, a disease characterized as an inability to produce chylomicrons and very low density lipoproteins in the intestine and liver, respectively, is the result of a genetic absence of MTP. Downstream effects resulting from this defect, include very low plasma cholesterol and triglyceride levels, absence of plasma apolipoprotein B and a lipid malabsorption syndrome, leading to lipo-soluble vitamin deficiencies. A low fat diet is instituted to eliminate the diarrhea. In addition, a therapy with vitamins A and E is essential to prevent patients from developing secondary effects such as neuropathy, muscle weakness, and retinopathy.
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PMID:[Microsomal triglyceride transfer protein and abetalipoproteinemia]. 1089 63

The worldwide increase of celiac disease prompted us to assess its prevalence in the Italian general population. The 3483 inhabitants of Campogalliano were tested for immunoglobulin A anti-endomysial antibodies. Twenty subjects showed antibody positivity and duodenal biopsy detected typical mucosal lesions of celiac disease in 17 of them; the remaining three cases had a normal villous architecture, but the finding of increased gamma/delta intraepithelial lymphocytes in all and the heterodimer DQA1*0501, DQB1*0201 in two of them was consistent with potential celiac disease. Only one patient had an overt malabsorption syndrome, characterized by diarrhea, weight loss, and severe weakness. In eight subjects atypical symptoms of celiac disease, such as dyspepsia and depression, were present, whereas the remaining subjects were silent. Celiac disease was more frequent in younger age groups. Our cross-sectional design study demonstrates that celiac disease prevalence in the Italian general population is 4.9 per 1000 (95% CI 2.8-7.8), increasing up to 5.7 per 1000 (95% CI 3.5-8.8) with the inclusion of potential cases.
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PMID:High prevalence of celiac disease in Italian general population. 1147 2

Skeletal muscle disorders manifested by muscle pain, fatigue, proximal weakness, and serum creatine kinase (CK) elevation have been reported in patients with selenium deficiency. The object of this report was to review the conditions in which selenium deficiency is associated with human skeletal muscle disorders and to evaluate the importance of mitochondrial alterations in these disorders. A systematic literature review using the Medline database and Cochrane Library provided 38 relevant articles. The main conditions associated with selenium deficiency fell into three categories: (1) insufficient selenium intake in low soil-selenium areas; (2) parenteral or enteral nutrition, or malabsorption; and (3) chronic conditions associated with oxidative stress, such as chronic alcohol abuse and human immunodeficiency virus (HIV) infection. In low soil-selenium areas, reversibility of muscle symptoms was similar after selenium supplementation and placebo administration, suggesting a role for other factors in the development of disease. In parenteral or enteral nutrition, or malabsorption, muscle symptoms improved after selenium supplementation in 18 of 19 patients (median delay: 4 weeks). The reason that only a minority of selenium-deficient patients present with skeletal muscle disorders is unclear and is possibly related to cofactors, such as viral infections and drugs. Prospective studies of selenium-deficient myopathies would be useful in critically ill patients, alcohol abusers, and HIV-infected patients.
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PMID:Skeletal muscle disorders associated with selenium deficiency in humans. 1276 76

In this case report, a 56-year-old woman with a reversible multiple organ disease with septic fever, arthritis, rash, weight loss, thrombocytopenia, severe disturbance of liver function, renal tubular dysfunction, general muscular weakness, pleural and pericardial effusions and elevated CRP, leukocytosis and a striking hyperferritinemia is presented. An autoimmune disease and a septic process were excluded. Because of the significantly decreased plasma phosphorus concentration (0.2 mmol/l), caused by malabsorption after Whipple's operation with lowered vitamin D and secondary hyperparathyroidism and by chronic alcoholism, severe phosphate deficiency was diagnosed. By substitution of phosphorus, all symptoms disappeared and laboratory findings normalized. Except for the patient's age, all criteria for the diagnosis of Still's disease were fulfilled. So we reflected upon Still's disease to be rather a disturbance of energy metabolism with secondary immunologic changes than an inflammatory rheumatic disease. Significant weight loss in Still's disease and osteopenia might be signs of decreased energy supply. Besides hypophosphatemia, deficiency of magnesium, which is involved in all ATP-dependent processes, and mitochondrial diseases cause disturbances of energy metabolism.
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PMID:[Adult Still's disease as a manifestation of severe hypophosphatemia. Still's disease--a disturbance of energy metabolism?]. 1282 5

Celiac disease (Celiacal sprue = gluten-sensitive enteropathy = netropic sprue) is the all-life genetically determined autoimmune disease with permanent intolerance to gluten, which damages the intestinal mucous membrane and alterates the immune system. The atrophy and typical inflammatory changes of mucous membrane results in malabsorption with diarrhea, general weakness, anemia and weight loss. The clinical picture of celiac disease is considerably heterologous. Only 20-30% of patients suffer from active-classical form of the disease. Non-diagnosed, inactive forms of the disease form 70-80% of cases of celiac disease in adult individuals. The therapy is based on diet without gluten. Application of the diet usually results in clinical improvement and signs of the disease are diminished. The relapse of celiac disease occurs after a gluten load. Celiac disease and dermatitis Duhring are considered to be two equal forms how gluten enteropathy becomes manifest. Celiac disease is often associated with other autoimmune diseases (e.g. insulin-dependent diabetes mellitus, autoimmune thyreoiditis). Untreated celiac disease still represents a serious medical risk, since it is an important precancerosis. Introduction of highly sensitive methods for the determination of antibodies against endomysium and tissue transglutaminase significantly extended possibilities of diagnosis and screening for celiac disease. It became obvious that the real incidence of celiac disease including the non-diagnosed forms of the disease in the European population is greater than 1:200 to 1:250.
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PMID:[Celiac disease--a severe disease]. 1450 71

Budd-Chiari syndrome is thrombosis of the hepatic veins, and associated conditions vary. Budd-Chiari and celiac sprue association is a rare condition. A 24-year-old woman was admitted to the clinic with complaints of weakness, distended abdomen and weight loss for four months. Results of investigation showed Budd-Chiari syndrome and malabsorption with endomysial antibodies and intestinal villous atrophy. All known etiological factors for Budd-Chiari syndrome were negative. Three months after initiation of a gluten-free diet and replacement therapy, she died from infection of ascitic fluid and renal failure following umbilical hernia rupture. Celiac sprue must be remembered especially in the event of Budd-Chiari syndrome and malabsorption.
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PMID:Budd-Chiari syndrome in a young patient with celiac sprue: a case report. 1504 2

The health effects of long-term ingestion of rare earth elements (REEs) on the villagers living in high-REE-background areas in South Jangxi Province, China were studied. Major health complaints from the REE area population included indigestion, diarrhea, abdominal distension, anorexia, weakness, and fatigue, especially after high-fat or high-protein intake. Liver function tests were conducted for adult villagers. Among them, 45 live in a heavy rare earth (HREE) area, 62 in a light rare earth (LREE) area, and 49 in the control area. Test results showed that serum total protein and globulin from both HREE and LREE areas, as well as albumin from the LREE area, were significantly lower (p < 0.01 - 0.01) compared to the results from the control area, whereas albumin from the HREE area showed no significant variance (p > 0.05). The chi-square test showed that Serum-glutamic pyruvic transaminase (SGPT) in both areas were not significant (p > 0.05), whereas the IgM in the HREE area was significantly elevated. It is our conclusion that long-term ingestion of REE affected activities of some digestive enzymes, causing malabsorption and indigestion, and might further lead to a low-protein effect for the villagers in the LREE area. However, the damage to the liver was rather mild. The elevation of IgM was probably the result of stimulation induced by the formation of a large amount of granules as a result of direct binding of REEs to globulin or albumin (combination of REEs with globulin or albumin).
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PMID:Investigation on liver function among population in high background of rare earth area in South China. 1585 27

Abdominal bloating is an extremely common symptom affecting up to 96% of patients with functional gastrointestinal disorders and even 30% of the general population. To date bloating has often been viewed as being synonymous with an actual increase in abdominal girth, but recent evidence suggests that this is not necessarily the case. This review examines the relationship between the symptom of bloating and the physical sign of abdominal distension, as well as examining the epidemiology, pathophysiology and treatment options available for this debilitating aspect of the functional gastrointestinal disorders. Pathophysiological mechanisms explored include psychological factors, intestinal gas accumulation, fluid retention, food intolerance and malabsorption of sugars, weakness of abdominal musculature, and altered sensorimotor function. Treatment options are currently rather limited but include dietary changes, pharmacological approaches, probiotics and hypnotherapy.
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PMID:Towards a better understanding of abdominal bloating and distension in functional gastrointestinal disorders. 1607 38

A nearly 5 year-old boy presented with proximal muscle weakness, reduced muscle bulk, a positive Gower sign and Trendelenburg gait. He was known to have cholestatic liver disease. Investigations revealed markedly low serum total calcium, elevated alkaline phosphatase, very low serum 25-hydroxyvitamin D, and radiographs consistent with active rickets despite the ongoing administration of a water-soluble preparation of vitamin D. Only i.v. calcitriol acutely corrected the hypocalcemia, despite trying several oral preparations, suggesting that malabsorption secondary to chronic liver disease was the cause of his rickets. Intramuscular calciferol quickly corrected his muscle weakness and X-ray findings. Myopathy secondary to vitamin D deficiency is an uncommon diagnosis in children. Intermittent calciferol is an inexpensive and practical treatment for vitamin D deficiency, especially if associated with malabsorption.
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PMID:Treatment of malabsorption vitamin D deficiency myopathy with intramuscular vitamin D. 1612 49


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