Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a collection of 3,571 patient's files admitted in the University Teaching Hospital and the Yaounde General Hospital, we studied 27 patients suspected of chronic pancreatitis. 20 patients with calcified chronic pancreatitis benefited from a detailed history, physical examination and a complete paraclinical work-up. From the data collected, chronic alcoholism seemed to have been the main aetiology. Industrial beer from barley alone and/or associated with other traditional liquors was most consumed. The majority of patients were heavy alcoholics and daily consumption varied from 75 to 124 g of pure alcohol. The natural history of the disease and physical examination were identical to that observed in the western countries. Associated pathology was observed in 10% of the patients. This included peptic ulcer disease, cirrhosis and bile stones. Complications included diabetics, obstructive jaundice, and malabsorption syndrome. As a conclusion, chronic pancreatitis is a pathology whose prevalence seems to be progressing constantly.
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PMID:[Chronic pancreatitis in Cameroon. Analysis of etiological and clinical aspects]. 151 63

Wolman's disease is a fatal disorder characterized by absence of acid lipase and accumulation of cholesterol esters. Inanition due to malabsorption and intractable diarrhea has been the most prominent cause of early demise within the first year. Further complications have included cirrhosis and pulmonary failure due to cholesterol ester storage in respective cells. Although sustained caloric balance can be maintained by total parenteral nutrition, this has not altered the eventual course of disease. The acid lipase deficiency in leucocytes in Wolman's disease can be corrected subsequent to bone marrow transplantation. This has proven to be the case in two patients so transplanted. In two other patients, engraftment was not obtained following bone marrow transplantation. The concept of treatment of Wolman's disease by providing normalization of the acid lipase activity by allogeneic bone marrow transplantation remains valid. However, improvement of bone marrow transplant procedure needs to be implemented since pre-existing morbid pathology enhances toxicity and may prevent engraftment. Alternative modifications for accomplishing sustained engraftment without toxicity need to be examined. Other potential therapies need to be inspected in treatment of patients with Wolman's disease. The capability of reducing cellular cholesterol synthesis by use of lovastatin, an inhibitor of 3-hydroxy-3-methylglutaryl-CoA reductase, is now available. In the future, isolation and purification of acid lipase will allow for direct infusion of missing enzyme. The molecular biology now known concerning acid lipase gene holds promise for the future for recombinant manufacturing of acid lipase. And, gene therapy with its use of autologous bone marrow transplantation will be tried in future.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Wolman's disease: a review of treatment with bone marrow transplantation and considerations for the future. 152 Oct 99

Antibodies to gliadin IgA (IgA-AGA) were detected by enzyme-linked-immunosorbent-technique (ELISA) in 30 healthy controls, 20 coeliac patients and 25 patients with non coeliac malabsorption. All the controls had levels of IgA-AGA in the normal range (25AV). Three of the 25 patients with non coeliac malabsorption presented high titres of IgA-AGA. Thirty six determinations of IgA-AGA were made on the coeliac patients. All but one of the determinations made during the symptomatic phase of the disease were 25AV. The highest titres corresponded either to untreated patients or patients with complications (cirrhosis, lymphoma). In our study the sensitivity and the specificity of the test for symptomatic patients were 94.4% and 94.5% respectively.
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PMID:[The usefulness of determining antigliadin IgA antibodies for the detection and follow-up of adult celiac disease]. 154 29

The second step in the pathway for synthesis of bile acids from cholesterol is catalysed by the enzyme 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase. Deficiency of this enzyme has been reported to produce cholestatic liver disease with progressive cirrhosis. Treatment with chenodeoxycholic acid led to clinical and biochemical improvement in one patient. We report a further child with this disorder who presented with prolonged neonatal jaundice followed by symptoms of malabsorption of fat-soluble vitamins. Bile acid replacement therapy resulted in clinical and biochemical improvement; it was also possible to demonstrate improvement in the histological appearance of the liver biopsy 4 months after commencing treatment.
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PMID:3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology. 158 74

The alpha 1-antitrypsin deficient subject (protease inhibitor (PI) phenotype ZZ) has an increased susceptibility to liver disease. The condition is most commonly identified in early infancy as a conjugated hyperbilirubinaemia with hepatitis (11%) or a bleeding state due to vitamin K malabsorption (2%). 50% of cases have cirrhosis and 25% die in the first decade of life. A further 2% present with cirrhosis in later childhood. Adult males are at risk of hepatoma development with or without cirrhosis. Diagnosis is by isoelectric focussing or allele-specific oligonucleotide hybridization. The treatment is that of cholestasis and cirrhosis including transplantation. The pathobiology of the deficiency state, the mechanism of liver damage and the vulnerability of the newborn liver are discussed in this review. A plea is made for a trial of infusions of alpha 1-antitrypsin in early infancy, as is used safely but without proven efficacy in the emphysematous PIZZ subject. Prospects of therapy by gene modification are also reviewed.
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PMID:Alpha 1-antitrypsin deficiency and liver disease: clinical presentation, diagnosis and treatment. 174 15

The authors studied ortho-I-hippurate kinetics in the blood and central lymph in two groups of intact rats and three groups of animals with induced pathological states (cirrhosis, uraemia, malabsorption). A differentiated lipid concentration in the central lymph was induced in intact animals by depriving them of food (the unfed group) or allowing them food (the fed group) before the experiment. All the hippurate kinetic parameters, including lymphatic bioavailability (FL), in the fed group were very close to those in the unfed group, which was also used as the control for the groups with induced pathological states. Cirrhosis, uraemia and malabsorption altered the blood and lymphatic kinetic parameters in many cases, but the changes mostly followed a parallel course so that FL was maintained (except in the uraemia group, in which it fell).
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PMID:Pharmacokinetics of ortho-I-hippurate in the blood and central lymph of the rat. 181 82

The effect of molecular weight, lymph quality (total lipid content) and pathological conditions (liver cirrhosis, malabsorption state, acute uremia) on the distribution of model drugs into central lymph after i.v. administration was studied in rats. Lymphatic bioavailability (FL), expressing the ratio of the areas under both the lymphatic and the blood concentration curves, served as the parameter of "lymphotropy". In model drugs with a low molecular weight (benzoates, hippurate, diazepam), the blood and lymphatic concentrations are steady (FL values are close to 1.00). Inulin (m.w. = 5600) in small doses (0.75 mg/kg) possesses a FL similar to low-molecular substances; additions of 10-fold and 50-fold doses significantly increase the FL. High--molecular HSA passes into the lymph to a limited degree only (FL = 0.49). The content of lipids in the central lymph determines the magnitude of FL for the lipophilic drug (diazepam) only. The induced pathological conditions affect the absolute values of both the blood lymphatic areas under the concentration curves, but the resultant FL varies only slightly.
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PMID:On the limiting factors affecting the distribution of model drugs from blood into the lymphatic system. 182 Sep 25

Deficiency of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase, the second enzyme in the sequence that catalyses the synthesis of bile acids from cholesterol, leads to chronic liver disease in childhood as well as to malabsorption of fat and fat soluble vitamins. A 4 year old boy with this condition has been successfully treated by oral administration of a bile acid--chenodeoxycholic acid. He had been jaundiced since birth, grew poorly because of rickets, and had severe pruritus. Plasma transaminase activities were persistently raised. Chenodeoxycholic acid 125 mg twice daily for two months, and then 125 mg daily, cured his jaundice and pruritus, returned his transaminase activities to normal, and eliminated the need for calcitriol for prevention of rickets. On this treatment he has so far remained well for two years. A diagnosis of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency should be considered in any child with unexplained chronic hepatitis or cirrhosis, especially if the liver disease is accompanied by a clinically obvious malabsorption of fat soluble vitamins. A simple colorimetric test of the urine confirms the diagnosis and effective treatment can be started.
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PMID:Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid. 224 2

Anatomical abnormalities of the small bowel that cause intestinal stagnation result in bacterial overgrowth and a blind loop syndrome (BLS). Bacterial breakdown of bile salts and deamination of protein lead to malabsorption, steatorrhea, and fat-soluble vitamin deficiencies. Four children developed BLS as a complication of necrotizing enterocolitis, jejunal atresia, gastroschisis, and biliary atresia. BLS was suggested by abdominal pain, feculent vomiting, steatorrhea, and hypoalbuminemia. Dilated, stagnant bowel loops were demonstrated in each instance by upper gastrointestinal contrast study. Positive intestinal bacterial aspirates were confirmatory. Antibiotic treatment in two patients improved symptomatology but all children ultimately required surgery. Surgical procedures consisted of blind loop resection, intestinal plication, and catheterization of the bilioenteric conduit. All patients are now asymptomatic but one child suffers from parenteral nutrition-related cirrhosis and another requires chronic antibiotic therapy.
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PMID:The blind loop syndrome in children. 240 46

During the past two decades, essentiality of zinc for man has been established. Deficiency of zinc in man attributable to nutritional factors and several diseased states has been recognized. High phytate content of cereal proteins decreases availability of zinc, thus the prevalence of zinc deficiency is likely to be high in the population subsisting on cereal proteins mainly. Zinc deficiency has been noted to occur in patients with malabsorption syndrome, chronic renal disease, cirrhosis of the liver, sickle cell disease, AE, and other chronically debilitating diseases. Growth retardation, male hypogonadism, skin changes, poor appetite, mental lethargy and delayed wound healing are some of the manifestations of chronically zinc-deficient human subjects. In severely zinc-deficient patients, dermatological manifestations, diarrhea, alopecia, mental disturbances and intercurrent infections predominate. If untreated, the condition becomes fatal. Zinc deficiency affects testicular functions adversely in man and animals. This effect of zinc is at the end-organ level. It appears that zinc is essential for spermatogenesis. Zinc is involved in many biochemical functions. Several zinc metalloenzymes have been recognized in the past decade. Zinc is required for each step of cell cycle in microorganisms and is essential for DNA synthesis. The effect of zinc on protein synthesis may be attributable to its vital role in nucleic acid metabolism. The activities of many zinc-dependent enzymes have been shown to be affected adversely in zinc-deficient tissues. Zinc atoms in some of the enzyme molecules participate in catalysis and also appear to be essential for maintenance of structure of apoenzymes. Zinc also plays a role in stabilization of biomembrane structure and polynucleotide confirmation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical and biochemical manifestation zinc deficiency in human subjects. 241 3


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