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Archive for November, 2011
A familial case of Paget’s disease of bone with mutation at exon 8 of the sequestosome gene
25, Nov 2011Introduction Paget’s disease of bone (PDB) is a disorder of bone metabolism reported to affect up to 3% of Caucasian over 55 years of age. PDB is a genetically heterogeneous disorder characterized by abnormal osteoclastic activity leading to bone destruction and macroscopic deformities, which cause bone pain and pathological fractures. There is evidence of genetic [...]
A clinical case of familial Paget’s disease of bone complicated by early osteogenic sarcoma: Discussion
14, Nov 2011Familial Paget’s disease accounts for about 20% of PDB cases, and it is often found to segregate in an autosomal dominant pattern. Mutations of p62/sequestosome 1 gene (SQSTM1/p62) account for familial forms of PDB. It is well known that the presentation of familial PDB is most frequently poliostotic than in sporadic cases, and that levels [...]
A clinical case of familial Paget’s disease of bone complicated by early osteogenic sarcoma
9, Nov 2011Case presentation A 65 years-old Italian woman came to our attention at the Me- dicina-Malattie Metaboliche dell’Osso Department. She came as an outpatient and the reason of the visit was persistent bone pain. Through family history of the patient, it was possible to ascertain a familial form of Paget’s disease of bone (PDB), because the [...]
Paget’s disease of the hip: Treatment
1, Nov 2011Management of patients with Paget’s disease can be challenging. The mainstay of treatment is to relieve pain and improve function. This often necessitates administration of nonsteroidal anti-inflammatory medications and other analgesics. In order to retard excessive osteoclastic activity bisphosphonate drugs may be administered. Joint arthroplasty for Paget’s patients with end-stage symptomatic arthritis may be indicated. [...]