Search
Flickr PhotoStream
Archive for the ‘Disease’ Category
A familial case of Paget’s disease of bone with mutation at exon 8 of the sequestosome gene: Results
17, Dec 2011Mutational 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. [...]
A familial case of Paget’s disease of bone with mutation at exon 8 of the sequestosome gene: Treatment
16, Dec 2011In 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 [...]
A familial case of Paget’s disease of bone with mutation at exon 8 of the sequestosome gene: Materials and methods
15, Dec 2011Patients 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 [...]
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. [...]