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)

Because gastrointestinal dysfunction is a major problem in children with human immunodeficiency virus (HIV) infection, we utilized breath hydrogen measurements to determine the relationship between disaccharide malabsorption and gastrointestinal dysfunction in HIV-infected children. We found a strong association between lactose intolerance and persistent diarrheal disease in this population (p less than 0.007, Mann-Whitney U test). We also found evidence of sucrose malabsorption and persistent diarrheal disease in three of the children. Extensive microbiologic evaluations failed to reveal an etiologic agent related to the occurrence of gastrointestinal symptoms. Our findings indicate that disaccharide intolerance is a common occurrence in HIV-infected children with persistent diarrheal disease. Careful attention to dietary intake may be required to ameliorate clinical symptoms and to maintain adequate nutrition.
 ...
PMID:Gastrointestinal dysfunction and disaccharide intolerance in children infected with human immunodeficiency virus. 199 74

AIDS-related gastrointestinal disease is common, presenting a challenge to all nutritional support clinicians. Patients frequently suffer from weight loss, diarrhea, malabsorption, and cachexia. Many factors complicate the course of AIDS-related gastrointestinal disease, including decreased food intake (resulting from fatigue and malaise), increased metabolic demand and nutritional requirements, and identifiable gastrointestinal pathology. Gastrointestinal pathology is well-documented, and in approximately 50% of persons with AIDS-related gastrointestinal disease, a causative agent can be identified. In general, treatment of AIDS-related gastrointestinal disease is not always curative. Much of the chronic gastrointestinal dysfunction is caused by recurring opportunistic pathogens that are resistant to chemotherapy. Often, patient care and long-term management can focus only on fluid and electrolyte balance, nutritional support, and symptom control. Even clinically stable patients have been diagnosed as chronically malnourished and, for reasons that remain unclear, are prone to rapid nutritional deterioration during disease exacerbations. Published reports of nutritional assessment and intervention in persons with AIDS are now appearing in the literature. However, the eventual mortality associated with AIDS still results in a hesitancy on the part of many clinicians to prescribe aggressive nutritional support, especially parenteral nutrition. Who to treat and at what stage of illness becomes the question. As new agents, such as AZT, are prescribed on a more frequent basis for persons with AIDS, the use of nutritional support as adjunctive therapy early in the course of disease becomes an issue. Although improving nutrition has not been shown to reverse any of the cellular immunodeficiency caused by HIV infection, quality of life may be improved. In specific cases, nutritional support, whether through diet counseling, food programs, or intervention with enteral or parenteral nutrition, appears to improve strength and endurance, thus enhancing quality of life.
 ...
PMID:Gastrointestinal manifestations of the acquired immunodeficiency syndrome. 249 50

We have previously reported our efforts to minimize postgastrectomy symptoms in two patients with benign disease who underwent resection of the head of the pancreas and the duodenum. In these cases the pylorus and first portion of the duodenum were preserved during pancreaticoduodenectomy. Our experience has now been extended to encompass 18 patients, eight of whom were available for comprehensive evaluation an average of six months postoperation. These studies have attempted to differentiate malabsorption of pancreatic insufficiency from possible gastrointestinal dysfunction of the new alimentary connection. Pancreatic insufficiency was evaluated by a 72-hour stool collection and radioactive trioctanoate (RATO) test. Gastrointestinal absorption was evaluated by D-xylose excretion and the Schilling test, as well as serum vitamin. A, vitamin B-12, carotene, folate, iron, and total iron binding capacity. Gastrointestinal secretion and motility were assessed by using pyloric fluoroscopy, gastric barium emptying, the Hunt test, and gastric acid analysis. Finally, a questionnaire regarding clinical symptoms of postgastrectomy syndromes and malabsorption was answered. Although every patient exhibited marked pancreatic insufficiency by laboratory tests, 88% described normal formed bowel movements, and weight loss was claimed by only 25%. Other test findings were generally normal. While the follow-up period has been limited to three years, the current data demonstrate that gastrointestinal function subsequent to preservation of the pylorus has not thus far predisposed to postgastrectomy syndromes or marginal ulcers. All of the patients required intensive pancreatic enzyme replacement.
 ...
PMID:Preservation of the pylorus in pancreaticoduodenectomy a follow-up evaluation. 741 28

Infants and young children with HIV infection commonly suffer from gastrointestinal manifestations of their disease. Many HIV infected children have evidence of persistent diarrhoea, malabsorption, malnutrition or growth failure. The aetiology and pathogenesis of gastrointestinal dysfunction in HIV infected children have not been well defined. We performed immunocytochemical analyses on intestinal tissue from 19 HIV-infected children with gastrointestinal dysfunction or growth failure. None of these 19 children had microbial pathogens identified in faecal samples using standard microbiological methods. Intestinal tissues were obtained from the children by biopsy and were examined for antigens from Pneumocystis carinii, cytomegalovirus (CMV) and herpes simplex virus (HSV) using the avidin-biotin-complex immunohistochemical technique and monoclonal or monospecific antibodies. We detected at least one of these pathogens in samples from eight (42%) of 19 HIV infected children. P. carinii was the most prevalent pathogen, found in five of the eight HIV infected children. All of the children with intestinal pneumocystis infection were receiving prophylaxis directed at the prevention of pulmonary disease with this organism and none of them were undergoing active pulmonary infection. We also identified CMV antigens in intestinal tissues from four children and HSV antigens in intestinal tissues from one child. Two children were infected with more than one pathogen. On the other hand, none of these pathogens were found in the tissues obtained from 10 HIV-uninfected patients who had intestinal tissues obtained for chronic non-infectious diarrheal and inflammatory diseases (P < 0.01, Fisher's exact test). Our findings indicate that some children with HIV infection and gastrointestinal dysfunction may be infected with opportunistic pathogens despite negative analyses employing standard microbiological methods. Our study also indicates that HIV infected children can undergo intestinal infection with P. carinii despite the administration of standard immunoprophylactic regimens directed at the prevention of infection with this organism.
 ...
PMID:Enteric pathogens associated with gastrointestinal dysfunction in children with HIV infection. 873 89

Familial amyloidotic polyneuropathy (FAP), Portuguese type, is a hereditary amyloidosis caused by mutated transthyretin (ATTR) in which an exchange of valine for methionine at position 30 has taken place (ATTR Val30Met). Gastrointestinal complications, such as nausea, diarrhoea and malabsorption, have a significant impact on survival since the cause of death in the majority of cases is a consequence of extreme malnutrition due to dysmotility of the gastrointestinal tract. Recently, a role of the receptor for advanced glycation end products (RAGE) has been implicated in amyloid toxicity. Transthyretin (TTR) amyloid fibrils have been shown to have affinity for RAGE and subsequently induce NF-kappaB activation and apoptosis. Since gastrointestinal dysfunction plays an important role in FAP, we wanted to investigate if amyloid toxicity in the gastrointestinal tract is related to RAGE, NF-kappaB activation and apoptosis. Gastrointestinal tract autopsy samples were studied for the distribution of amyloid, RAGE, advanced glycation end products (AGE) and NF-kappaB. Furthermore, we examined the immunoreactivity of an apoptotic marker to investigate if an apoptotic pathway contributes to amyloid toxicity. The distribution of RAGE and AGE strongly correlated to that of amyloid deposits. Sequential immunofluorescence staining revealed a clear relationship between TTR, AGE and RAGE. No correlation between NF-kappaB, apoptotic marker and amyloid deposits was found. We conclude that RAGE-AGE or RAGE-TTR interaction might play important roles for gastrointestinal dysfunction and amyloid toxicity, although not through NF-kappaB activation and apoptosis.
 ...
PMID:Advanced glycation end products (AGE) and the receptor for AGE are present in gastrointestinal tract of familial amyloidotic polyneuropathy patients but do not induce NF-kappaB activation. 1241 Mar 91

Proctocolectomy modifies the enterohepatic circulation and activity of bacterial enzymes depending on the structure of the stoma and function of the terminal ileum. We evaluated in our comparative study effects of different colectomy constructions on cholesterol metabolism. Levels of lipoprotein cholesterol and triglycerides, noncholesterol sterols, and squalene in serum, fecal fat, and bile acids, cholesterol absorption efficiency, and cholesterol metabolism by sterol balance technique were analyzed in human subjects with ileal pouch-anal anastomosis (n = 34), conventional ileostomy (n = 8), ileorectostomy (n = 6), and controls (n = 29). Malabsorption of bile acids, but not of fat, and low serum levels of total and low-density lipoprotein cholesterol, but high levels of high-density lipoprotein cholesterol and increased cholesterol synthesis were evident in the colectomy groups. In contrast to the ileorectostomy group, expressing high absorption and biliary secretion of cholesterol, a low cholesterol absorption percentage accompanied by elevated serum proportions of cholesterol precursor sterols and phytosterols characterized the ileal pouch-anal anastomosis and conventional ileostomy groups. After colectomy, fecal excretion of secondary bile acids was low, whereas relative proportions of identifiable bile acids remained the same in each study group. Low serum levels of total and low-density lipoprotein cholesterol of colectomized subjects may decrease the risk of premature atherosclerosis. The favorable serum lipid profile was due to enhanced fecal loss of cholesterol as bile acids despite abnormally high cholesterol synthesis. Ileal dysfunction probably diminished cholesterol absorption in subjects with ileal pouch-anal anastomosis and conventional ileostomy, with no explanation for those with ileorectostomy with no clinical gastrointestinal dysfunction. Relative synthesis of identifiable primary bile acids remained unchanged postoperatively, but formation of secondary bile acids was weak due to scarce bacterial flora.
 ...
PMID:Ileal pouch-anal anastomosis, conventional ileostomy and ileorectal anastomosis modify cholesterol metabolism. 1548 17

McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene. In addition to the metaphyseal chondrodysplasia and the short-limb dwarfism, patients may present with a multisystemic disease, associating immune deficiency with recurrent infantile or childhood infections, hematological abnormalities, and gastrointestinal dysfunction. The probability of malignancy is increased in these patients, as are disimmune manifestations. We report on a 12-year-old girl with a new mutation of the RMRP gene and a severe multisystemic CHH (hematological and pulmonary lesions, severe immune deficiency, arthritis, pancreatic insufficiency, malabsorption, chronic diarrhea) receiving parenteral nutrition who presented with acute symptomatic hypocalcemia and hypercalciuria associated with the presence of autoantibodies directed against the calcium-sensor receptor. At the same time, there was an important escalation of diarrhea. Corticosteroids led to a progressive improvement of biological signs (hypocalcemia, hypoparathyroidism). By contrast, gastrointestinal symptoms and malabsorption did not improve. To our knowledge, this is the first report of autoimmune hypoparathyroidism in CHH.
 ...
PMID:Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. 1962 44

Cystic fibrosis gastrointestinal disease includes nutrient malabsorption and intestinal inflammation. We show that the abundances of Escherichia coli in fecal microbiota were significantly higher in young children with cystic fibrosis than in controls and correlated with fecal measures of nutrient malabsorption and inflammation, suggesting that E. coli could contribute to cystic fibrosis gastrointestinal dysfunction.
...
PMID:Escherichia coli dysbiosis correlates with gastrointestinal dysfunction in children with cystic fibrosis. 2417 46

Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation. For each of these novel components of APECED, specific autoantibodies against either lung autoantigens or peripheral nerves or tryptophan hydroxylase have been just recently identified.
...
PMID:APECED syndrome in childhood: clinical spectrum is enlarging. 2550 18