glucocerebroside/nekroza

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Effects on inflammatory responses by the sphingoid base 4,8-sphingadienine.

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Prijava / prijava

Sphingolipids (SLs) are a class of lipids, which are structural cell components involved in the regulation of cellular processes such as cell proliferation, differentiation, apoptosis and inflammation. Dietary SLs are enzymatically hydrolyzed in the gut lumen into metabolites, namely ceramides and

Partial splenectomy in Gaucher's disease.

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Prijava / prijava

In 11 children with hypersplenism due to Gaucher's disease, partial splenectomy was planned with the aim to prevent the development of postsplenectomy sepsis and also to slow the advance of the disease in the rest of the reticuloendothelial system by permitting continuing accumulation of the

99mTc-MDP Bone Scintigraphy in Gaucher Disease

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Prijava / prijava

In this case report, we present the bone scintigraphic findings of a 9-year-old boy with Gaucher disease who has a history of fractures to evaluate the extent of his osseous lesions. Gaucher disease is a genetic deficiency of lysosomal enzyme glucocerebrosidase, which results in the accumulation of

Coxarthritis as the presenting symptom of Gaucher disease type 1.

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Prijava / prijava

Gaucher disease (GD) type 1 is the most common lysosomal storage disorder due to beta glucocerebrosidase deficiency leading to an abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system. The disease presentation is usually characterized by signs and symptoms

Bone, bone marrow, and MIBI scintigraphic findings in Gaucher's disease "bone crisis".

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Prijava / prijava

OBJECTIVE The authors report the utility of Tc-99m MIBI imaging in Gaucher's disease, which results in the accumulation of glucocerebroside in macrophages. Inflated macrophages, or Gaucher's cells, involve the reticuloendothelial organs. METHODS A 38-year-old man with type I Gaucher's disease,

Increased red blood cell aggregation in patients with Gaucher disease is non-inflammatory.

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Prijava / prijava

Red blood cell (RBC) aggregation is enhanced in the presence of ongoing inflammation, because of plasma protein effects, especially fibrinogen. Large RBC aggregates, in addition to being a marker of systemic inflammation, may hinder tissue perfusion and oxygenation. Gaucher disease, the most common

[Bone changes in Gaucher disease].

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Prijava / prijava

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

Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family.

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Prijava / prijava

Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was determined from peripheral blood lymphocytes and cultured skin fibroblasts of eight full sibs in a French-Canadian family at risk for Gaucher disease, an autosomal recessive sphingolipidosis resulting from deficient

Use of plain radiography to optimize skeletal outcomes in children with type 1 Gaucher disease in Brazil.

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Prijava / prijava

BACKGROUND Gaucher disease is the most common lysosomal storage disease and is caused by deficient production and activity of the lysosomal enzyme beta-glucosidase (glucocerebrosidase), resulting in progressive accumulation of glucosylceramide (glucocerebroside) in lysosomes of cells of the

Gaucher disease: a diagnostic challenge for internists.

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Prijava / prijava

Gaucher disease (GD), the most common inherited lysosomal storage disorder, is a multiorgan disease due to an autosomal recessive defect of the gene encoding glucocerebrosidase enzyme, responsible for the accumulation of glucosylceramide (glucocerebroside) into reticuloendothelial cells,

Gaucher disease: a comprehensive review.

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Prijava / prijava

Gaucher disease (GD) is an inherited error of metabolism due to a deficiency of glucocerebrosidase. This leads to excessive storage of glucocerebroside in the liver, spleen, bone, and bone marrow. Patients develop anemia, thrombocytopenia, hepatosplenomegaly, bone infarcts, aseptic necrosis of bone,

Orthopaedic manifestations of Gaucher disease.

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Prijava / prijava

Gaucher disease is a rare, hereditary disease caused by lack of a lysosomal enzyme. This results in the accumulation of glucocerebroside in the cells of the reticuloendothelial system, including the bone marrow. The orthopaedic manifestations of this disease are important for the orthopaedic surgeon

Bone disease in patients with Gaucher disease.

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Prijava / prijava

Gaucher disease is an inborn error of metabolism due to a deficiency of the lysosomal enzyme glucocerebrosidase. As a result of this deficiency, the substrate glucocerebroside accumulates in the liver, spleen, bone and bone marrow. Bone involvement can lead to abnormalities in bone growth, bone

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