نتایج جستجو برای: lipogranulomatosis
تعداد نتایج: 79 فیلتر نتایج به سال:
We describe imaging findings of a 45-year-old man with a 6-month history of gradually increasing diffuse swelling of the neck. CT showed diffuse thickening and infiltration of the superficial and deep soft tissues bilaterally. On further investigation of his history, the patient stated that he had injected mineral oil into his neck to clean out his body from drugs. Biopsy results showed multinu...
A 35 month old girl had suffered from painful joint contractures of the whole body since a few months after birth, and she gradually developed numerous periarticular and subcutaneous nodules, hoarseness, swallowing difficulty with recurrent respiratory infections, nystagmus, and mental and developmental retardation. She was misdiagnosed as having juvenile rheumatoid arthritis at several univers...
Lipogranulomatosis or Farber's disease in a rare autosomal recessive disorder characterized by swollen, tender joints, periarticular and subcutaneous nodules, horsncss and progressive aphonia. Hepatosplcnomcgaly and C.N.S. involvements arc also reported in certain patients. The disorder is caused by a deficiency of acid ceramidase which may be best diagnosed by missing ceramidasc activity at a...
This paper develops a theoretical search framework to analyse the wage losses experienced by displaced workers. We underline the importance of accounting for two different sources of wage losses whose consequences might differ, namely the loss of rents earned on their predisplacement job and the loss of accumulated firm-specific human capital. We then turn to the measurement and decomposition o...
[This corrects the article DOI: 10.1371/journal.pgen.1005591.].
Introduction Farber lipogranulomatosis (Farber Disease; FD) is an ultra-rare lysosomal storage disorder resulting from the inherited deficiency of the enzyme acid ceramidase, and the accumulation of the lipid substrate, ceramide. Ceramide is a pro-inflammatory and pro-apoptotic lipid that has been implicated in the pathogenesis of cartilage disorders. Farber Disease has a heterogeneous presenta...
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