نتایج جستجو برای: camurati
تعداد نتایج: 226 فیلتر نتایج به سال:
34-year old patient had history of muscular wasting, easy fatigability, pain in extremities and waddling gait since age of four. During the time, neuromuscular disease was suspected, but not confirmed. Elevated bone alkaline phosphatase as well as other bone turnover markers (osteocalcin, procollagen, telopeptide) indicated further skeletal evaluation. Symmetrical enhanced uptake on technetium ...
UNLABELLED Schnitzler's syndrome is a rare disease characterized by a monoclonal IgM (or IgG) paraprotein, a nonpruritic urticarial skin rash, and 2 (or 3) of the following: recurrent fever, objective signs of abnormal bone remodeling, elevated CRP level or leukocytosis, and a neutrophilic infiltrate on skin biopsy. It responds well to treatment with the interleukine-1-inhibitor anakinra. We re...
INTRODUCTION Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The symptoms usually develop during childhood. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. The epiphysis is strictly spared. The common clinical symptoms are pain of the extremitie...
BACKGROUND Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS We retrospectively r...
We hypothesized that losartan would help in achieving clinical remission in CED (Camurati Engelmann Disease) patients by blocking TGFB1(transforming growth factor beta 1) with fewer side-effects than steroids. CED characterised by progressive diaphyseal dysplasia is associated with debilitating bone pain in the limbs, muscle weakness, fatiguability and waddling gait [1]. Clinical manifestations...
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