Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone.

Paget's disease of bone (PDB) is characterized by focal or multifocal increase in bone turnover. One of the most well-established candidate genes for susceptibility to PDB is Sequestosome 1 (SQSTM1). Mutations in SQSTM1 have been documented among Western-European, British and American patients with PDB.

Polymorphisms of CSF1 and TM7SF4 genes in a case of mild juvenile Paget's disease found using next-generation sequencing.

Juvenile Paget's disease (JPD) is a rare autosomal-recessive condition. It is diagnosed in young children and characterized by a generalized increase in bone turnover, bone pain, and skeletal deformity. Our patient was diagnosed after a pathological fracture when she was 11 years old.

[Paget's disease: clinical update].

Paget's disease is a chronic disorder of bone remodeling, characterized by an abnormal increase of osteoclast and, hence, osteoblast activity. The imbalance of bone turnover results in the formation of unhealthy and fragile bone. It also leads to impairment of adjacent joints and to a risk of various complications.

Gene expression profiling in Paget's disease of bone: upregulation of interferon signaling pathways in pagetic monocytes and lymphocytes.

Unlabelled: We examined the gene expression profile of genes involved in bone metabolism in 23 patients with PD compared with 23 healthy controls. We found a significant overexpression of the genes of the IFN pathway along with a downregulation of tnf-alpha. Our result suggest that IFN-mediated signaling may play important roles in aberrant osteoclastogenesis of PD.

Age- and sex-related regional compressive strength characteristics of human lumbar vertebrae in osteoporosis.

Objective: To obtain the compressive load bearing and energy absorption capacity of lumbar vertebrae of osteoporotic elderly for the everyday medical praxis in terms of the simple diagnostic data, like computed tomography (CT), densitometry, age, and sex.

Methods: Compressive test of 54 osteoporotic cadaver vertebrae L1 and L2, 16 males and 38 females (age range 43-93, mean age 71.6 ± 13.

Epidemiology of Paget's disease in Europe: the prevalence is decreasing.

Unlabelled: This study estimated changes in the age- and sex-specific prevalence of Paget's disease of bone in six European towns over a 20-year period. Declines in prevalence were observed in this disorder, occurring among both men and women.

Introduction: To estimate secular changes in the age-and sex-specific prevalence of Paget's disease of bone in Europe, we conducted a second radiographic survey using identical sampling and methods in six European towns where a baseline study was performed in 1978-1979.

Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.

Unlabelled: Three novel missense mutations of SQSTM1 were identified in familial PDB, all affecting the UBA domain. Functional and structural analysis showed that disease severity was related to the type of mutation but was unrelated to the polyubiquitin-binding properties of the mutant UBA domain peptides.

Introduction: Mutations affecting the ubiquitin-associated (UBA) domain of Sequestosome 1 (SQSTM1) gene have recently been identified as a common cause of familial Paget's disease of bone (PDB), but the mechanisms responsible are unclear.

Atypical form of active melorheostosis and its treatment with bisphosphonate.

We present the case of a 38-year-old man in whom extensive bilateral melorheostosis was associated with elevated serum alkaline phosphatase, swelling of the right foot and progressive deformity of the left hand, left leg and right foot. Radiography, computed tomography and bone scintigraphy were performed. Following treatment with bisphosphonate (30 mg/day of pamidronate for 6 days) infusion, the pain and swelling of his right foot showed improvement and his elevated serum alkaline phosphatase decreased.