Long-term trends in the incidence of Paget’s disease of bone

Tiegs, Robert D.; Lohse, Christine M.; Wollan, Peter C.; Melton, L. Joseph

doi:10.1016/s8756-3282(00)00333-1

Cited by 109 publications

(83 citation statements)

References 28 publications

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“…Moreover, an increased risk of mortality resulting from cancer, cardiovascular disease, pulmonary disease or gastrointestinal disease has not been reported in this study [11]; (iii) a drastic fall down of PDB prevalence (standardized both for age and gender) between 1974 and 1994 (follow-up prevalence study in 10 towns in Great Britain), as also observed in other European Countries; on the contrary, a previous US survey on the incidence of PDB (still from Olmsted County, MN), covering the period 1950 through 1994, revealed an increased incidence over the first part of the study period and then a decline [12]. As suggested by authors themselves, this finding could result from ascertainment bias, because the introduction of the 12-test automated serum chemistry panel in 1974 might have led to a sudden increase in the apparent incidence of PDB followed by a compensatory decrease.…”

Section: Secular Trends Of Paget's Disease Of Bone: Conflicting Resultssupporting

confidence: 55%

Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

Falchetti

Marini

Masi

et al. 2010

Eur J Clin Investigation

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Background A large amount of genetic studies have clearly demonstrated the existence of a genetic susceptibility to Paget's disease of bone (PDB). Although the disease is genetically heterogeneous, the SQSTM1 ⁄ p62 gene, encoding a protein with a pathophysiological role in both osteoclast differentiation and activity, has been found worldwide to harbour germline mutations in most of the PDB patients from geographically distant populations originating from different areas of Europe, both in sporadic and familial cases.

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Section: Secular Trends Of Paget's Disease Of Bone: Conflicting Resultssupporting

confidence: 55%

Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

Falchetti

Marini

Masi

et al. 2010

Eur J Clin Investigation

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“…Computerized tomography and magnetic resonance imaging may help where neoplastic involvement is being considered. The use of bone biopsy may be appropriate to confi rm the diagnosis (16,7,25,27).…”

Section: Resultsmentioning

confidence: 99%

Causes of High Bone Alkaline Phosphatase

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2007

Biotechnology & Biotechnological Equipment

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“…(1)(2)(3)(4)(5)(6)(7)(8)(9) The typical features are focal lesions where the bone remodeling process is accelerated, leading to a disorganized bone matrix. Consequently, symptoms such as bone pain, skeletal deformities, fractures, secondary osteoarthritis, deafness, and neurologic complications are observed.…”

mentioning

confidence: 99%

“…(10)(11)(12) However, up to 70% of PDB patients are asymptomatic. (4,7,13) At the histologic level, osteoclasts are most likely the primary defective cells. Osteoclasts in PDB patients are more numerous and larger in size and have more nuclei (>100) and a significantly higher activity than osteoclasts in healthy individuals.…”

mentioning

confidence: 99%

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone

Chung

Beyens

Riches

et al. 2010

Journal of Bone and Mineral Research

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RANK (receptor activator of nuclear factor-kB), encoded by TNFRSF11A, is a key protein in osteoclastogenesis. TNFRSF11A mutations cause Paget's disease of bone (PDB)-like diseases (ie, familial expansile osteolysis, expansile skeletal hyperphosphatasia, and early-onset PDB) and an osteoclast-poor form of osteopetrosis. However, no TNFRSF11A mutations have been found in classic PDB, neither in familial nor in isolated cases. To investigate the possible relationship between TNFRSF11A polymorphisms and sporadic PDB, we conducted an association study including 32 single-nucleotide polymorphisms (SNPs) in 196 Belgian sporadic PDB patients and 212 control individuals. Thirteen SNPs and 3 multimarker tests (MMTs) turned out to have a p value of between .036 and 3.17 Â 10 À4 , with the major effect coming from females. Moreover, 6 SNPs and 1 MMT withstood the Bonferroni correction ( p < .002). Replication studies were performed for 2 nonsynonymous SNPs (rs35211496 and rs1805034) in a Dutch and a British cohort. Interestingly, both SNPs resulted in p values ranging from .013 to 8.38 Â 10 À5 in both populations. Meta-analysis over three populations resulted in p ¼ .002 for rs35211496 and p ¼ 1.27 Â 10 À8 for rs1805034, again mainly coming from the female subgroups. In an attempt to identify the underlying causative SNP, we performed functional studies for the coding SNPs as well as resequencing efforts of a 31-kb region harboring a risk haplotype within the Belgian females. However, neither approach resulted in significant evidence for the causality of any of the tested genetic variants. Therefore, further studies are needed to identify the real cause of the increased risk to develop PDB shown to be present within TNFRSF11A. ß

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Long-term trends in the incidence of Paget’s disease of bone

Cited by 109 publications

References 28 publications

Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

Causes of High Bone Alkaline Phosphatase

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone

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