Posts Tagged ‘Paget’s disease of bone

Mutational screening of the exons 7 and 8 of the SQSTM1/p62 gene revealed the presence of a C/T transversion at position 1215 in exon 8 (Fig. 2) in the affected individuals (VB and VG). This mutation causes the substitution proline/leucine at codon 392 (P392L), and it has been described by other reports in dif­ferent populations. […]

In all patients pharmacological treatment was prescribed when serum AP and BAP levels firstly increased at least 25% above the upper limit of the normal range. During the whole observa­tion period we used in these PDB patients synthetic sCT at the dosage of 100 UI i.m/day for 6 months and bisphosphonates (clodronate, 300 mg i.v./day […]

Patients We monitored for a long period 3 members of a family affected by polyostotic PDB at the Bone Metabolic Unit of the IRCCS Ospedale Maggiore di Milano. The members of this family were a woman (proband), her brother, their father and the brother’s daughter (Fig. 1). Brother, sister and their father were visited since […]

Introduction 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 […]

Management 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. […]

Introduction First described by Sir James Paget in 1876, the exact etiolo­gy of the disease remains unknown today. Genetic predispo­sition, slow virus or bacterial infection has been postulated as possible causes. Although its incidence may be declining, Paget’s disease may affect up to 3.5 per cent of persons older than forty-five years. The pelvis and […]