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

An 18-month-old child, who had no evidence of liver disease, malabsorption, or chronic ingestion of coumarin compounds, was found to have plasma deficiencies of factors II, VII, IX and X. Assays for factor II and X by immunological techniques (antibody neutralization and immunoelectrophoresis) revealed normal or elevated antigenic activity of these factors, suggesting the presence of abnormal protein variants in the patient's plasma. On two-dimensional immunoelectrophoresis of the patient's plasma in calcium, a normal and an abnormal population of prothrombin were seen. The abnormal prothrombin had a mobility more anodal than that of normal prothrombin, but less anodal than that of acarboxyprothrombin. The abnormal prothrombin, in contrast to acarboxyprothrombin, adsorbed readily to both aluminum hydroxide and barium citrate, and could be identified by two-dimensional immunoelectrophoresis of a barium citrate eluate. We suspect that the abnormal variant represents a partially carboxylated prothrombin.
 ...
PMID:Characterization of a variant prothrombin in a patient congenitally deficient in factors II, VII, IX and X. 737 10

A progressive neurologic syndrome developed in six children with longstanding cholestatic liver disease. The neurologic abnormalities included areflexia, gait disturbance, decreased proprioceptive and vibratory sensation, and paresis of gaze. Serum vitamin E concentrations were uniformly low. Neuropathological studies carried out in two of the three fatal cases revealed degeneration of the posterior column, selective loss of large-caliber, myelinated axons in peripheral nerve, and spheroids in the gracile and cuneate nuclei. These lesions are similar to those found in animals with experimentally induced vitamin E deficiency. We therefore speculate that the neurologic syndrome in these children may be the result of chronic vitamin E malabsorption.
 ...
PMID:A progressive neurologic syndrome in children with chronic liver disease. 745 84

Macroamylasemia is a benign acquired condition, characterized by a serum amylase unusually large in molecular size that has been found to occur in apparently healthy humans as well as in a variety of diseases including liver disease, diabetes, cancer malabsorption and autoimmune disorders. Most commonly macroamylasemia results from the formation of immune complexes between amylase and immunoglobulins. We describe the first case of an association between macroamylasemia/hyperamylasemia and rheumatoid arthritis characterized by the absence of immunoglobulins, as amylase binding globulins, within the macroamylase complex. Failure to identify macroamylase as the cause of unexplained but benign hyperamylasemia correctly, can lead to costly studies (e.g. ultrasonography, computerized tomography) to rule out pancreatic disease, and could induce prescription of unnecessary elemental diets and replacement therapies, as reported in our patient.
 ...
PMID:Macroamylasemia: a possible cause of unexplained hyperamylasemia in rheumatoid arthritis. 753 58

In recent years knowledge of the basic defect of CF has increased enormously. Many new drugs and treatment strategies are being introduced in the clinic. Nevertheless, there are a number of unsolved problems in the treatment of malabsorption and malnutrition. In spite of innovative technical and pharmacological improvement of pancreatic enzyme preparations maldigestion is still a problem. Better enzymes and coatings are needed. The integrated action of enzymatic digestion, intestinal motility and absorption is not under control. The role of malnutrition in the development of complications and in the outcome of the disease is still under discussion. The importance of a high energy intake is now generally accepted, but the question is how to achieve this. Tube feeding, endoscopic gastrostomy and the use of diets with a high energy content are becoming more popular. In CF the relationship between gastro-oesophageal reflux and lung complications is not well understood, but GER is frequently recognized. In the absence of CF GER is also associated with a number of pulmonary and upper airway diseases. The incidence of liver fibrosis and cholestatic liver disease is increasing with age. The problem is how to identify the patients at risk. The use of choleretic drugs has shown promising results in preliminary studies. Gene therapy in pancreatic and gastrointestinal pathology will be restricted to the liver. The biliary tract could be an interesting target, if patients at risk can be identified. In conclusion, new drugs and new strategies are necessary for the future implementation of the results of new insights in CF.
 ...
PMID:Present and future treatment modalities for gastrointestinal diseases in cystic fibrosis. 764 42

Primary biliary cirrhosis is a chronic, usually progressive, cholestatic liver disease of presumed autoimmune etiology that affects predominantly young and middle-aged women. It is nearly always associated with an antibody directed against a component of the pyruvate dehydrogenase complex located on the inner wall of the mitochondria. The disease is associated with a number of other associated autoimmune disorders. No totally effective medical treatment has been established for the disease, although urosdeoxycholic acid appears promising. Complications of cholestasis such as fat malabsorption and fat-soluble vitamin deficiency should be excluded or corrected when found. Individual patient prognosis varies. Several models for estimating individual patient survival are available. Liver transplantation is recognized as a procedure to extend and improve the quality of life for patients with advanced disease.
 ...
PMID:Primary biliary cirrhosis. 771 16

This article reviews osteoporosis (OP) in adults with chronic liver disease. OP in this setting is characterized in general by low bone turnover. The pathogenesis is unclear but is probably not related to vitamin D abnormalities. Patients at high risk of OP include those with evidence of cirrhosis, hypogonadism, overt calcium malabsorption, steroid therapy and choleostatic liver disease (particularly primary biliary cirrhosis). OP is best managed by adequate calcium intake, regular weight bearing exercise, and the avoidance of alcohol and tobacco smoking. There is probably no reason for vitamin D supplementation. Hormonal replacement therapy when necessary is indicated in males and should be considered in females. Finally, liver transplantation has the potential to improve or stabilize OP in the median term, although it is associated with significant short-term deterioration.
 ...
PMID:Osteoporosis in chronic liver disease: pathogenesis, risk factors, and management. 785 Oct 1

Until the 1960s, liver disease of the alcoholic patient was attributed exclusively to dietary deficiencies. Since then, however, our understanding of the impact of alcoholism on nutritional status has undergone a progressive evolution. Alcohol, because of its high energy content, was at first perceived to act exclusively as 'empty calories' displacing other nutrients in the diet, and causing primary malnutrition through decreased intake of essential nutrients. With improvement in the overall nutrition of the population, the role of primary malnutrition waned and secondary malnutrition was emphasized as a result of a better understanding of maldigestion and malabsorption caused by chronic alcohol consumption and various diseases associated with chronic alcoholism. At the same time, the concept of the direct toxicity of alcohol came to the forefront as an explanation for the widespread cellular injury. Some of the hepatotoxicity was found to result from the metabolic disturbances associated with the oxidation of ethanol via the liver alcohol dehydrogenase (ADH) pathway and the redox changes produced by the generated NADH, which in turn affects the metabolism of lipids, carbohydrates, proteins and purines. Exaggeration of the redox change by the relative hypoxia which prevails physiologically in the perivenular zone contributes to the exacerbation of the ethanol-induced lesions in zone 3. In addition to ADH, ethanol can be oxidized by liver microsomes: studies over the last twenty years have culminated in the molecular elucidation of the ethanol-inducible cytochrome P450IIE1 (CYP2E1) which contributes not only to ethanol metabolism and tolerance, but also to the selective hepatic perivenular toxicity of various xenobiotics. Their activation by CYP2E1 now provides an understanding for the increased susceptibility of the heavy drinker to the toxicity of industrial solvents, anaesthetic agents, commonly prescribed drugs, 'over the counter' analgesics, chemical carcinogens and even nutritional factors such as vitamin A. Ethanol causes not only vitamin A depletion but it also enhances its hepatotoxicity. Furthermore, induction of the microsomal pathway contributes to increased acetaldehyde generation, with formation of protein adducts, resulting in antibody production, enzyme inactivation and decreased DNA repair; it is also associated with a striking impairment of the capacity of the liver to utilize oxygen. Moreover, acetaldehyde promotes glutathione depletion, free-radical mediated toxicity and lipid peroxidation. In addition, acetaldehyde affects hepatic collagen synthesis: both in vivo and in vitro (in cultured myofibroblasts and lipocytes), ethanol and its metabolite acetaldehyde were found to increase collagen accumulation and mRNA levels for collagen. This new understanding of the pathogenesis of alcoholic liver disease may eventually improve therapy with drugs and nutrients.
 ...
PMID:Aetiology and pathogenesis of alcoholic liver disease. 821 1

Short bowel syndrome is defined as malabsorption following small intestinal resection. There are many causes in children, most of whom present during infancy. The clinical presentation and physiologic consequences depend heavily on the segment of bowel removed and the extent of resection. The remaining intestine has the capacity to adapt anatomically and functionally, and stimulating the adaptation process is a major component of therapy. Clinical management of long-term complications, such as bacterial overgrowth, nutrient deficiency states, and parenteral nutrition-induced liver disease, are often key outcome determinants. The recent availability of intestinal transplantation now provides an additional therapeutic option for patients in whom all other forms of therapy fail.
 ...
PMID:Short bowel syndrome in children. 854 57

In approximately 2 to 4 percent of patients, laboratory evidence of macrocytosis is found. Macrocytic anemias are classified as those resulting from disorders of DNA synthesis of erythrocyte precursors in bone marrow (megaloblastic anemias) or those caused primarily by alcoholism, liver disease and hypothyroidism (nonmegaloblastic anemias). A blood smear should be performed to differentiate the two forms. Neutrophil hypersegmentation is one of the most sensitive and specific signs of megaloblastic anemia. Other testing should include vitamin B12 and red blood cell folate levels, reticulocyte count, and thyroid and liver function tests. The Schilling test can determine if B12 can be absorbed and, if not, whether adding intrinsic factor corrects the malabsorption. The most common form of nonmegaloblastic macrocytic anemia results from alcoholism. Nonmegaloblastic macrocytic anemias may be accompanied by increased reticulocyte counts (hemolysis, hemorrhage) or by normal or decreased reticulocyte counts (alcoholism, liver disease, hypothyroidism and various bone marrow disorders).
 ...
PMID:Macrocytic anemia. 870 32

Liver disease is increasingly recognized as a major cause of morbidity in cystic fibrosis (CF). Preliminary data suggest that ursodeoxycholic acid (UDCA) may be beneficial for treatment of this manifestation. We performed a double-blind, multicenter trial in these patients to establish efficacy and safety of UDCA in terms of the improvement of clinical and nutritional indicators besides standard liver function tests. We also intended to establish whether taurine supplementation has a beneficial effect in patients receiving UDCA. From June to December 1990, we enrolled in 12 centers 55 CF patients with liver disease (39 male subjects; median age, 13.8 years). They were randomly assigned to receive for 1 year one of the following treatments: UDCA (15 mg/kg body weight daily) plus taurine (30 mg/kg body weight daily), UDCA plus placebo, placebo plus taurine, or double placebo. Clinical and laboratory evaluations were performed every 3 months. After 1 year, deterioration of overall clinical conditions, as indicated by the Shwachman-Kulczycki score (SKS), occurred in patients who received placebo but not in those who received UDCA (P = .025). Patients treated with UDCA also showed an improvement in gamma-glutamyl transpeptidase (GGT) (P = .004) and 5'-nucleotidase (P = .006) levels. Treatment with taurine was followed by a significant increase in serum prealbumin levels (P = .053), a trend toward a reduction in fat malabsorption, and no effect on the biochemical profile. No severe side effects occurred with any treatment. Thus, we concluded that UDCA administration improves clinical and biochemical parameters in CF patients with liver disease. Taurine supplementation may be indicated in patients with severe pancreatic insufficiency and poor nutritional status.
 ...
PMID:Ursodeoxycholic acid for liver disease associated with cystic fibrosis: a double-blind multicenter trial. The Italian Group for the Study of Ursodeoxycholic Acid in Cystic Fibrosis. 867 68


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>