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A case of adult type 1 Gaucher disease complicated by temporal intestinal hemorrhage.

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A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucosidase

Effect of glucocorticoids on release of lysosomal enzymes in liver ischemia and hemorrhagic shock in pigs.

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The effect of glucocorticoids on the release of lysosomal enzymes was studied in liver ischemia created by dearterialization and in hemorrhagic shock in pigs. In shock the treatment with glucocoticoids suppressed the release of beta-glucosidase and beta-galactosidase into the circulation. The

[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].

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Gaucher disease is an autosomal recessive lysosomal storage disorder characterized by deficiency of beta-glucosidase that would lead to the accumulation of glucosylceramide mainly in cells of the mononuclear phagocytic system causing systemic effectations. We present a patient of twenty years who is

[Therapeutic objectives in Gaucher disease].

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Evidence-based therapeutic goals have been developed by European and North American experts in the field of Gaucher disease (GD, lysosomal acid beta glucosidase deficiency, OMIM 230 800) in an attempt to reverse the entire disease phenotype, improve quality of life and prevent life-threatening

Rapid detection and identification of Brachyspira aalborgi from rectal biopsies and faeces of a patient.

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This study reports for the first time the detection of Brachyspira aalborgi in faeces and rectal biopsies of a female suffering for 3-4 months of abdominal pain with long-standing mucosal diarrhoea, rectal bleeding and suspected carcinoma of the rectum. After pre-treatment of samples (faeces and

[Bone changes in Gaucher disease].

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Among Ashkenazi-Jews, Gaucher' disease, an autosomal-recessive hereditary genetic defect of sphingolipid metabolism, occurs more frequently than in the general population. Because of lack of the specific b-glucosidase, glucocerebrosidase, there is increased deposition of glucocerebrosides in the

Plasma activities of lysosomal enzymes after hepatic dearterialization in man.

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Six patients with liver metastases from carcinoid or colon carcinoma underwent hepatic derterialization. This operation, known to cause both tumor necrosis and liver cell damage, caused considerable increases of several lysosomal acid hydrolases in the circulation. Thus, beta-glucosidase showed a

An improved method for adrenalectomy of suckling rats. The influence of thrombin treatment and deoxycorticosterone substitution on survival and on hepatic and renal enzyme activities.

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Adrenalectomy of suckling rats is complicated by a high mortality rate, caused by the loss of blood (early mortality) and by the disturbed sodium-potassium balance (late mortality). Treatment of the abdominal cavity with a thrombin solution and a daily administration of deoxycorticosterone glucoside

The management of pregnancy in Gaucher disease.

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Gaucher disease (GD), characterized by deficient acid β-glucosidase activity, is the most common lysosomal storage disorder. The disease is progressive with manifestations that include anemia, thrombocytopenia, organomegaly and bone disease. Pregnancy has the potential to exacerbate these

Degradation of intestinal glycoproteins by Bacteroides vulgatus.

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Bacteroides vulgatus, isolated from a patient with Crohn's disease, produced in gnotobiotic rats 7 constitutive enzymes that might be concerned with the degradation of intestinal glycoproteins. Furthermore Bacteroides vulgatus caused an almost complete loss of blood group antigenicity of the

Gaucher's disease with myocardial involvement in pregnancy.

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BACKGROUND Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The

Phenotypic and molecular characterization of a novel strongly hemolytic Brachyspira species, provisionally designated "Brachyspira hampsonii".

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Since 2007, outbreaks of severe bloody diarrhea and hemorrhagic colitis have been reported in the United States and Canada. Though the primary causative agent of swine dysentery is Brachyspira hyodysenteriae, which is strongly hemolytic, the current report describes the isolation of a novel strongly

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