Search results for "acid ceramidase"

showing 3 items of 3 documents

A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects

1985

A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions. Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the disease: a severe type, an intermediate type and a relative…

AdultPathologymedicine.medical_specialtyAcid CeramidaseAmidohydrolasesPathognomonicArthropathyCeramidasesmedicineHumansLipomatosisLymphocytesHistiocyteSkinFarber diseaseGranulomaHoarsenessbusiness.industryClinical coursemedicine.diseaseIntermediate typeAcid CeramidasePediatrics Perinatology and Child HealthUltrastructureFemaleJoint DiseasesbusinessEuropean Journal of Pediatrics
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High Levels of Exogenous C2-Ceramide Promote Morphological and Biochemical Evidences of Necrotic Features in Thyroid Follicular Cells

2002

CD95 and ceramide are known to be involved in the apoptotic mechanism. The triggering of CD95 induces a cascade of metabolic events that progressively and dramatically modifies the cell shape by intense membrane blebbing, leading to apoptotic bodies production. Although the CD95 pathway has been abundantly described in normal thyrocytes, the effects of cell permeable synthetic ceramide at morphological and biochemical levels are not fully known. In the present study, we show that thyroid follicular cells (TFC) exposed to 20 μM of C2-ceramide for 4 h are characterized by morphological features of necrosis, such as electron-lucent cytoplasm, mitochondrial swelling, and loss of plasma membrane…

C2-Ceramideacid ceramidaseSphingolipid
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Farber disease (acid ceramidase deficiency) epidemiology: literature review and patient cohort data indicate moderate and attenuated phenotypes are l…

2017

medicine.medical_specialtyFarber diseasePathologybusiness.industryEndocrinology Diabetes and Metabolismmedicine.diseaseBiochemistryPhenotypeAcid Ceramidase Deficiency03 medical and health sciences0302 clinical medicineEndocrinology030220 oncology & carcinogenesisInternal medicineCohortEpidemiologyGeneticsMedicinebusinessMolecular Biology030217 neurology & neurosurgeryMedical literatureMolecular Genetics and Metabolism
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