xanthomatosis/phosphatase

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Evaluation of the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis.

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The primary purpose of the present study is to evaluate the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis.This retrospective study was conducted between June 2013 and December 2018 with

Lipid storage disease: Part I. Ultrastructure of xanthoma cells in various xanthomatous diseases.

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The fundamental ultrastructure of lipid storage in the xanthoma cells of various xanthomatous diseases, including familial hyperlipoproteinemia type IIa, III, and V, cerebrotendinous xanthomatosis, Wolman's disease, Tangier disease, Hand-Schüller-Christian disease, and normolipidemic cutaneous

Xanthoma of the prostate: a mimicker of high-grade prostate adenocarcinoma.

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Prostatic xanthoma may mimic high-grade prostatic adenocarcinoma or prostate cancer treated with hormone therapy. From 1995 to 2006, 40 cases of prostatic xanthoma were diagnosed at The Johns Hopkins Hospital. Thirty-four cases were received in consultation from outside institutions. Hematoxylin and

Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function.

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We investigated the mechanism for reduced cholesterol biosynthesis in sitosterolemia with xanthomatosis. The conversion of acetate to cholesterol and total and active hydroxymethylglutaryl (HMG) coenzyme A (CoA) reductase activities, enzyme protein mass, and catalytic efficiency were related to

Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis.

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Significant osteoporosis determined by skeleton radiography and bone densitometry was found in 15 patients with cerebrotendinous xanthomatosis (CTX) whose mean age was 31 +/- 11 years. In three CTX patients, bone biopsies confirmed osteoporosis. Nine patients also sustained bone fractures following

Soft tissue giant cell tumor of low malignant potential: a proposal for the reclassification of malignant giant cell tumor of soft parts.

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Although "giant cell tumor of soft parts" has traditionally been considered a single entity as reflected in the original term "malignant giant cell tumor of soft parts (MGCT)" and later by the term "malignant fibrous histiocytoma, giant cell type" the degree of atypia and mitotic activity varies in

[Hypertrophic osteoarthropathy and hypophosphatemic osteomalacia associated with tumor].

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Hypertrophic osteoarthropathy and hypophosphatemic osteomalacia are both associated with neoplasm and unusual clinical syndromes. Although the etiologies of these conditions are unknown, their clinical courses are interesting, so we are reporting two cases of these conditions separately. Case 1: A

A 20-year follow-up of a male patient with type Ia glycogen storage disease.

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Glycogen storage diseases (GSDs) or glycogenoses comprise several rare inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen. We report on a male patient with type Ia GSD (GSD Ia) who was followed-up for more than 20 years. He had been

Chronic intrahepatic cholestasis of sarcoidosis.

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The development of the syndrome of chronic intrahepatic cholestasis in five young, black men who had systemic granulomatous disease and clinical features consistent with those of sarcoidosis is described. Clinical and biochemical aspects, similar to those of primary biliary cirrhosis, included

Eruptive histiocytoma of childhood.

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A 9-year-old girl had a widespread papular eruption that was histologically characterized by benign histiocytes that were acid phosphatase-positive, but that lacked Langerhans' granules ultrastructurally. New lesions had continued to develop since the patient was 3 months old, and individual lesions

The clinical effectiveness and safety of chronic plasmapheresis in patients with primary biliary cirrhosis.

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Primary biliary cirrhosis (PBC) is a chronic nonsuppurative, destructive cholangitis, whose etiology is unknown. Morbidity arises early from pruritus and later from hypercholesterolemia with xanthoma formation. Therapy is supportive and directed at the complications of cholestasis. Plasmapheresis

Role of plasmapheresis in primary biliary cirrhosis.

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Five patients with primary biliary cirrhosis and prolonged cholestasis underwent intensive plasmapheresis. The indications for plasmapheresis included intractable pruritus or hypercholesterolemia and xanthomatous neuropathy. Patients noted a rapid improvement of pruritus and fatigue which was

Early features of primary biliary cirrhosis: an analysis of 85 patients.

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A standardized clinical, laboratory, and histological assessment was carried out on 85 patients with primary biliary cirrhosis within 1 year of developing symptoms. Presenting symptoms included pruritus (n = 30), jaundice (n = 9), variceal bleeding (n = 6), ascites (n = 5), fatigue (n = 4), and

Malabsorption of liposoluble vitamins in a child with bile acid deficiency.

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A male born to first cousins presented at 12 months with hypocalcemic convulsions, rickets, epistaxis due to vitamin K deficiency, and extremely low serum levels of beta-carotene and vitamin A. Liver function was altered moderately (glutamic-oxaloacetic transaminase, 55 U/L; glutamic-pyruvic

[Clinical-dispensary finding of patients with primary biliary cirrhosis].

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Ten patients with primary biliary cirrhosis (PBC) were clinically followed under the conditions of follow-up care. The diagnosis of the patients was made vie biochemical immunologic, histological and instrumental investigations. The average term for follow up was 4 years and 5 months. All patients

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