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)

Fermentation, the process whereby anaerobic bacteria break down carbohydrates to short-chain (C2-C6) fatty acids (SCFAs), is an important function of the large bowel. SCFAs constitute approximately two-thirds of the colonic anion concentration (70-130 mmol/l), mainly as acetate, propionate, and butyrate. Gastroenterologists have, in spite of these facts, addressed this scientific field surprisingly late, in contrast to veterinarians, for whom the fermentative production of SCFAs has been acknowledged as a principal mechanism of intestinal digestion in plant-eating animals for decades. Interest in the effects of SCFA production on the human organism has been growing rapidly in the last 10 years, because gastrointestinal functions and beneficial effects are associated with these acids. SCFAs are of major importance in the understanding of the physiological function of dietary fibre and their possible role for colonic neoplasia. SCFA production and absorption are closely related to the nourishment of the colonic mucosa and sodium and water absorption, and mechanisms of diarrhoea. Patients with severe malabsorption compensate by the fermentation of otherwise osmotic active saccharides to SCFAs, which are readily absorbed and used as energy fuels in the organism. SCFA production from dietary carbohydrates is a mechanism whereby considerable amounts of calories can be salvaged in short-bowel patients with remaining colonic function if dietary treatment is adjusted. SCFA enemas are a new and promising treatment modality for patients with ulcerative colitis. The effect has been attributed to the oxidation of SCFAs in the colonocytes. An impressive number of papers have described the effects of butyrate on various cell functions, the significance of which is still unknown. Up until now, attention has been related especially to cancer prophylaxis and treatment. Diminished production of SCFAs appears to be involved in antibiotic-associated diarrhoea, diversion colitis, and possibly in pouchitis. The interaction between bacterial fermentation, ammonia metabolism, and bacterial growth and protein synthesis appears to be the main mechanism of action of lactulose treatment in hepatic coma. Pathological and extremely high rates of saccharide fermentation explain the severe deterioration in patients with D-lactate acidosis. Hence, this scientific field has come late to clinical working gastroenterologists, but as work is progressing the production of SCFAs in the large bowel becomes involved in several well-known intestinal disorders.
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PMID:Short-chain fatty acids in the human colon: relation to gastrointestinal health and disease. 872 86

The role of cholestasis and ileal dysfunction on sterol metabolism was studied in 79 patients with inflammatory bowel diseases (IBDs) and in 23 irritable bowel syndrome (IBS) controls by determining serum sterol/cholesterol proportions. The sterols included cholesterol precursors (delta 8-cholestenol, desmosterol and lathosterol), markers of cholesterol synthesis, cholestanol and plant sterols (campesterol and sitosterol), markers of cholesterol absorption and biliary secretion. The IBD patients were subgrouped into distal ulcerative colitis (dUC, n = 21), pancolitis (pUC, n = 29), ileal Crohn's disease (iCD, n = 20) and colonic Crohn's disease (cCD, n = 9). The cholestanol proportions were increased in the 3 colonic IBD groups, up to two times in cCD patients and seven times in a case with clinically overt primary sclerosing cholangitis, but were within the control IBS levels in the patients with iCD. The sitosterol, but not campesterol, proportion was significantly increased only in the pUC group. In the iCD group only the serum precursor sterol proportions, especially those for delta 8-cholestenol and lathosterol, were elevated probably due to ileal dysfunction induced bile acid malabsorption and compensatorily increased cholesterol synthesis. In conclusion, the findings suggest that the increased cholestanol proportion in colonic IBD is determined mainly by impaired biliary elimination of this sterol, while in ileal affision the dominating change in sterol balance is activated cholesterol synthesis. Thus increased serum cholestanol is a novel finding in colonic IBD, apparently indicating the presence of subclinical cholestasis in a marked number (20-50%) of IBD patients.
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PMID:Serum cholesterol, cholesterol precursors and plant sterols in different inflammatory bowel diseases. 878 5

Review of the medical records of 43 patients with common variable immunodeficiency (CVID) and 23 patients with X-linked agammaglobulinemia (XLAG) revealed a high incidence of chronic gastrointestinal complaints, most commonly diarrhea. Thirty-eight biopsies, four small-bowel resection specimens, and one autopsy from 10 patients with CVID and one patient with XLAG showed a wide range of abnormalities. A pattern resembling acute graft-versus-host disease, with apoptotic bodies and lymphocytes in crypts, was seen in the stomach (four patients), small bowel (three patients), and colon (three patients). Small-bowel specimens from three CVID patients with malabsorption showed mild to severe villous atrophy. Three CVID patients had Giardia in biopsies. Two cases of small bowel lymphoma associated with nodular lymphoid hyperplasia were identified in CVID patients. One patient's small bowel contained foamy histiocytes in the lamina propria, resembling Whipple's disease or chronic granulomatous disease, with numerous apoptotic bodies in crypts. Ultrastructurally, the histiocytes contained cellular debris. The patient with XLAG had recurrent fissuring necrosis of small bowel resembling Crohn's disease; a patient with CVID had colitis with features similar to ulcerative colitis. Poorly formed granulomas were seen in the stomach (one CVID patient) and the colon (two CVID patients). Lymphocyte populations were dominated by T cells; B cells were scarce except in lymphoid follicles in CVID patients with nodular lymphoid hyperplasia. Patients with CVID and XLAG manifest a spectrum of abnormalities in the gastrointestinal tract, with patterns superficially resembling graft-versus-host disease, inflammatory bowel disease, and Whipple's disease, but often lacking some of the diagnostic features of the diseases. Many of the CVID patients with chronic gastrointestinal complaints (62%) also had evidence of autoimmune phenomena, suggesting that in some patients the inflammatory process in the gastrointestinal tract has an autoimmune component.
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PMID:Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. 882 31

The ability of inflammatory bowel disease (IBD) patients to tolerate dairy products and the guidance they receive from physicians and nutritionists on this subject are important considerations in the management of their IBD. Although most affected persons are able to consume a glass of milk daily without discomfort, additional consideration must be given to specific factors that can be relevant to certain individuals. The declaration by patients that they are "dairy sensitive" may be related to lactose intolerance or malabsorption, the long-chain triacylglycerol content of milk, allergy to milk proteins, as well as psychologic factors and the misconception that dairy products can be detrimental to their health. The prevalence of lactose malabsorption is significantly greater in patients with Crohn disease involving the small bowel than it is in patients with Crohn disease involving the colon or ulcerative colitis. In the latter colonic conditions the prevalence of lactose malabsorption is mainly determined by ethnic risk, which is based on genetic factors. In addition, lactose malabsorption in Crohn disease of the small bowel may be determined by factors other than lactase enzyme activity, such as bacterial overgrowth and/or small bowel transit time. Physicians differ widely in the advice they give their patients: some dogmatically advise avoidance of dairy products when the diagnosis is made whereas others discount the possible role of dairy in the management of IBD. IBD patients avoid dairy products more than they would need to based on the prevalence of lactose malabsorption and/or milk intolerance, probably partly because of incorrect patient perceptions and arbitrary advice from physicians and authors of popular diet books. Adequate scientific and clinical information is now available to permit recommendations about the intake of dairy products for each IBD patient.
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PMID:Dairy sensitivity, lactose malabsorption, and elimination diets in inflammatory bowel disease. 902 46

A 77 year-old man developed intermittent diarrhoea and malabsorption. Endoscopic findings and preliminary histological examination indicated ulcerative colitis. Special staining of biopsies from the duodenum and colon revealed amyloid deposits. Classification of the amyloid fibril protein verified AL-amyloidosis, and the diagnosis primary idiopathic amyloidosis was made. Amyloid deposit in the gastrointestinal tract are a common feature of primary and secondary amyloidosis. The symptoms and findings are nonspecific and resemble those of chronic inflammatory bowel disease and ischemic colitis. Secondary amyloidosis can be seen as a rare complication of Crohn's disease and ulcerative colitis. Special staining is necessary to show amyloid deposit, and the distinction between primary and secondary amyloidosis requires immunohistochemistry.
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PMID:[Gastrointestinal amyloidosis. Differential diagnosis or a complication of inflammatory bowel disease?]. 941 5

To assess the clinical use of the breath hydrogen test in a large community hospital using a <10 ppm cutoff, we reviewed 222 tests performed over a 5-year period to evaluate patients for disaccharidase deficiency or bacterial overgrowth of the small intestine. Of these, the vast majority (195) were for lactose malabsorption, although fructose (17), sucrose (8) and lactulose (2) were also occasionally administered. One hundred eleven tests (50 percent) were positive, with an increase of at least 10 ppm hydrogen above the fasting level and a maximum value most commonly observed (42.3 percent of the time) at 3 hours post-administration. Only 34 patients (15.3 percent) had symptoms noted during the test, as compared with 185 (83.3 percent) who had experienced persistent intestinal problems prior to the test. Recent conditions which may have caused intestinal distress, such as transient disaccharidase deficiency, infections, surgery or other disorders like Crohn's disease, ulcerative colitis or food poisoning, were recorded in only 14 cases. Patterns consistent with bacterial overgrowth of the small intestine were observed in only 3 cases. Of 111 positives, 9 cases had increases between 10 and 20 ppm hydrogen and 7 showed the increase in the 3-hour sample, possibly reflecting a delayed transit through the intestine. Final diagnoses in 6 of these where information was available were for conditions other than malabsorption. We conclude that using a rise of 10 ppm to interpret a positive test does not contribute significantly to an increased frequency of false positives, but that patients with increases between 10 and 20 ppm probably are not lactase deficient.
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PMID:Using a cutoff of <10 ppm for breath hydrogen testing: a review of five years' experience. 1007 62

Elevated plasma homocystein (tHcy) is a marker for functional deficiency of folate and/or cobalamin. Malabsorption of these vitamins occurs in various gastroenterologic diseases. A frequent mutation (C677T) in the gene coding for the enzyme methyltetrahydrofolate reductase (MTHFR) is often associated with elevated values of tHcy. We have investigated 24 patients with tHcy > 40 mumol/l for gastrointestinal disease that can contribute to such elevation. Of these, 19 were homozygous for mutated MTHFR, four were heterozygous and one was normal. We found two cases of probable celiac disease, one case of Crohn's disease and one case of ulcerative colitis. These four were homozygous for the C667T mutation. Furthermore, we found eight persons who were anacidic; four homozygous, three heterozygous and one normal. All had gastritis histologically, six had serum gastrin > 50 pmol/l, and four were already on treatment with cobalamin injections. Helicobacter pylori-infection was found in nine out of 22 persons. Gastrointestinal disease occurs frequently in patients with tHcy > 40 mumol/l, but with the exception of conditions resulting in serious deficiency of cobalamin, these diseases alone do not seem sufficient to cause such high levels. We suggest that a reasonable approach to patients with homocystein values above 40 mumol/l is to exclude cobalamin deficiency, and that further investigations should be based upon thorough anamnesis and symptoms.
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PMID:[Gastrointestinal disease with elevated plasma homocysteine level]. 1056 75

The rheumatological, ophthalmological- and dermatological complications are the most common ones among the extraintestinal manifestations of inflammatory bowel diseases (IBD). The incidence of skin manifestations is estimated to be 15-20% in case of Crohn's disease and 10% in case of ulcerative colitis. The so called specific lesions (perianal fissures, metastatic Crohn's disease), which are part of the skin symptoms associated with IBD, show a intimate connections with the bowel disease itself, as they histologically show granulomatous inflammation with epitheloid cells, similar to the ones seen in the intestines. The reactive lesion (erythema nodosum, pyoderma gangraenosum), that form the second main group of skin changes, can also be found is other systemic diseases, but they are more frequently associated with IBD than the average. Cutaneous manifestations may occur due to malabsorption or drug therapy. Finally, there are dermatoses (epidermolysis bullosa acquisitia, acne fulminans) which have a still questionable connection with IBD. Authors present an overview of the IBD's possible skin and mucosal symptoms and their prognostic significance and they demonstrate some rare common skin manifestations found among the IBD patients of Borsod Country (580 ulcerative colitis, 265 Crohn's disease) in the last 25 years.
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PMID:[Cutaneous and mucosal manifestations of inflammatory bowel diseases]. 1093 82

The nutritional impact of inflammatory bowel disease is notable, both in Crohn's disease and ulcerative colitis. The causes of malnutrition include decreased intake, maldigestion, malabsorption, accelerated nutrient losses, increased requirements, and drug-nutrient interactions. Inflammatory bowel disease causes alterations in body composition and, because of these changes, affects energy expenditure. Various approaches have been most effective in correcting malnutrition, supporting growth, and managing short-bowel syndrome, but the success of primary therapy has been limited.
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PMID:Nutrition in inflammatory bowel disease. 1098 Sep 68

Although up to 20% of patients with Crohn's disease have their first flare during childhood or adolescence, there are no or only a few randomized, controlled studies. However, big differences and uncertainty may be observed between the diagnosis and therapy of pediatricians and gastroenterologists specialized for adults. In addition, special problems result from the enormous somatic and psychological evolution during adolescence. The diagnosis is done as in adult patients by enteroclysm and ileocolonoscopy (including multiple biopsies) whereas a deep sedoanalgesia or anesthesia should be performed routinely. Corticosteroids are the gold standard for therapy of Crohn's disease in the adolescence (especially in cases with high inflammatory activity), but also enteral nutrition over 4-12 weeks--or a combination of both. A recent randomized controlled study demonstrates the positive effect of 6-mercaptopurine in newly diagnosed patients with Crohn's disease in the adolescence. 5-aminosalicylates or the probably more effective azathioprine/6-mercaptopurine could be used for prevention of recurrence in Crohn's disease. The therapy of ulcerative colitis is performed as in adults including the very effective local rectal applications. An accompanying psychosomatic therapy is recommended especially in young patients with disturbed separation from the parents and inadequate coping. The indication for surgery is similar to adults. However, a specific indication for earlier surgery is given, if severe malabsorption and delay of growth takes place in spite of adequate therapy, because this delay of growth could be only caught up before puberty. A conservative therapeutic regimen is recommended in young patients with perianal Crohn's disease.
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PMID:[Consensus of the Chronic Inflammatory Bowl Disease Study Group of the Austrian Society of Gastroenterology and Hepatology on the topic of "diagnosis and therapy of chronic inflammatory bowel diseases in adolescence"]. 1107 75


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