Relevant bibliographies by topics / Bone disease

Academic literature on the topic 'Bone disease'

Author: Grafiati
Published: 4 June 2021
Last updated: 10 March 2023

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Journal articles on the topic "Bone disease"

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Jain, Ekta, Rajpal S. Punia, Amrita Bhattacharya, and Sudhir Garg. "Hydatid Disease of The Bone." Annals of Pathology and Laboratory Medicine 6, no. 12 (December 24, 2019): C133–135. http://dx.doi.org/10.21276/apalm.2596.

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Terpos, Evangelos. "BONE DISEASE." HemaSphere 6 (April 2022): 6. http://dx.doi.org/10.1097/01.hs9.0000829544.33044.41.

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Smergel, Eleanor M., and Marie A. Capitanio. "Bone disease." Current Opinion in Pediatrics 2, no. 1 (February 1990): 9–16. http://dx.doi.org/10.1097/00008480-199002000-00003.

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Chivima, Brenda. "Bone disease." Nursing Standard 28, no. 10 (November 6, 2013): 61. http://dx.doi.org/10.7748/ns2013.11.28.10.61.s51.

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Lipkin, Edward W. "METABOLIC BONE DISEASE IN GUT DISEASES." Gastroenterology Clinics of North America 27, no. 2 (June 1998): 513–23. http://dx.doi.org/10.1016/s0889-8553(05)70016-9.

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Zeng, Zhipeng, Xuchang Zhou, Yan Wang, Hong Cao, Jianmin Guo, Ping Wang, Yajing Yang, and Yan Wang. "Mitophagy—A New Target of Bone Disease." Biomolecules 12, no. 10 (October 4, 2022): 1420. http://dx.doi.org/10.3390/biom12101420.

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Bone diseases are usually caused by abnormal metabolism and death of cells in bones, including osteoblasts, osteoclasts, osteocytes, chondrocytes, and bone marrow mesenchymal stem cells. Mitochondrial dysfunction, as an important cause of abnormal cell metabolism, is widely involved in the occurrence and progression of multiple bone diseases, including osteoarthritis, intervertebral disc degeneration, osteoporosis, and osteosarcoma. As selective mitochondrial autophagy for damaged or dysfunctional mitochondria, mitophagy is closely related to mitochondrial quality control and homeostasis. Accumulating evidence suggests that mitophagy plays an important regulatory role in bone disease, indicating that regulating the level of mitophagy may be a new strategy for bone-related diseases. Therefore, by reviewing the relevant literature in recent years, this paper reviews the potential mechanism of mitophagy in bone-related diseases, including osteoarthritis, intervertebral disc degeneration, osteoporosis, and osteosarcoma, to provide a theoretical basis for the related research of mitophagy in bone diseases.
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Duursma, SA, JA Raymakers, and HJJ Verhaar. "Osteoporosis, osteomalacia and Paget’s disease of bone." Reviews in Clinical Gerontology 7, no. 2 (February 1997): 127–36. http://dx.doi.org/10.1017/s0959259897000142.

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Three diseases of bone are common in the elderly: osteoporosis, osteomalacia and Paget’s disease of bone. Osteoporosis is the result of bone loss, caused by a change in factors that regulate bone cell metabolism. The process of bone loss itself, resulting in osteoporosis, does not cause symptoms. It is the consequences of osteoporosis, fractures and bone deformity, that patients complain of. Osteomalacia is a defect in the process of mineralization of bone, nearly always due to vitamin D deficiency. In contrast to osteoporosis, patients with osteomalacia may have complaints of bone pain and muscle weakness. Page’s disease of bone is probably caused by a slow virus, which initially affects osteoclasts, followed by stimulation of osteoblasts. The process of increased bone cell turnover itself does not usually cause complaints. However, it results in deformation of bones and joints causing a painful secondary osteoarthritis. Pain resulting from high bone cell turnover responds remarkably quickly to treatment. In exceptional cases local pain in the long bones occurs. In an earlier review the problems of origin, diagnosis and treatment of osteoporosis were discussed. This paper focuses on diagnostic procedures and therapeutic regimens.
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Bandeira, Francisco, Natalie E. Cusano, Barbara C. Silva, Sara Cassibba, Clarissa Beatriz Almeida, Vanessa Caroline Costa Machado, and John P. Bilezikian. "Bone disease in primary hyperparathyroidism." Arquivos Brasileiros de Endocrinologia & Metabologia 58, no. 5 (July 2014): 553–61. http://dx.doi.org/10.1590/0004-2730000003381.

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Bone disease in severe primary hyperparathyroidism (PHPT) is described classically as osteitis fibrosa cystica (OFC). Bone pain, skeletal deformities and pathological fractures are features of OFC. Bone mineral density is usually extremely low in OFC, but it is reversible after surgical cure. The signs and symptoms of severe bone disease include bone pain, pathologic fractures, proximal muscle weakness with hyperreflexia. Bone involvement is typically characterized as salt-and-pepper appearance in the skull, bone erosions and bone resorption of the phalanges, brown tumors and cysts. In the radiography, diffuse demineralization is observed, along with pathological fractures, particularly in the long bones of the extremities. In severe, symptomatic PHPT, marked elevation of the serum calcium and PTH concentrations are seen and renal involvement is manifested by nephrolithiasis and nephrocalcinosis. A new technology, recently approved for clinical use in the United States and Europe, is likely to become more widely available because it is an adaptation of the lumbar spine DXA image. Trabecular bone score (TBS) is a gray-level textural analysis that provides an indirect index of trabecular microarchitecture. Newer technologies, such as high-resolution peripheral quantitative computed tomography (HR-pQCT), have provided further understanding of the microstructural skeletal features in PHPT.
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Eriksen, Erik Fink, and Bente Langdahl. "Bone changes in metabolic bone disease." Acta Orthopaedica Scandinavica 66, sup266 (January 1995): 195–201. http://dx.doi.org/10.3109/17453679509157690.

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Brandenburg, V. M., and J. Floege. "Adynamic bone disease--bone and beyond." Clinical Kidney Journal 1, no. 3 (May 16, 2008): 135–47. http://dx.doi.org/10.1093/ndtplus/sfn040.

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Dissertations / Theses on the topic "Bone disease"

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Wedin, Rikard. "Metastatic bone disease /." Stockholm, 2000. http://diss.kib.ki.se/2000/91-628-3829-6/.

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Putman, Melissa. "Cystic Fibrosis Related Bone Disease." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17613728.

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Over the past several decades, life expectancy for patients with cystic fibrosis (CF) has increased significantly. As patients live longer, other nonpulmonary co-morbidities related to CF have become increasingly prevalent, including CF-related bone disease. Because CF related bone disease has only recently emerged as a clinical problem, and the underlying bone alterations and pathogenesis of this condition have not been established. This thesis explores the underlying bone micro-architecture and strength alterations found in adults with CF using state-of-the-art bone imaging techniques and explores whether improvements in the treatment of patients with CF over the past 15 years has led to similar improvements in bone health.
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Goodyear, Simon R. "Physicochemical methods for measuring the properties of bone and their application to mouse models of disease." Thesis, University of Aberdeen, 2009. http://digitool.abdn.ac.uk:80/webclient/DeliveryManager?pid=133992.

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This thesis describes a toolbox of complementary techniques that together measure and mechanical properties of bone. Three-point bending is used to measure the mechanical properties of bone; micro computed tomography provides cortical geometry and parameters describing trabecular bone.  The material properties, elastic modulus and density, are measured directly using ultrasound and Archimedes’ principle, while composition and bone chemistry are investigated by ashing and Raman microscopy.  These methods are used to characterise bone from the naturally occurring Gunmetal mouse and the engineered neuronal nitric oxide synthase (nNOS) knockout mouse. Comparison was also made between femora and tibiae and cortical and trabecular bone from wild type mice. Gunmetal mice had inferior mechanical properties, but unaffected material and chemical properties.  Cortical area but not second moment of area was also reduced.  nNOS knockouts had superior bone mechanically, due to increased mineralisation and geometrical parameters.  Femora and tibiae had different mechanical and material properties that were not linked to the size or shape of the bones.  Cortical bone  had characteristics of older bone compared to trabecular material, possibly due to the lower turnover rate. These results show the necessity for measuring material properties directly, rather than inferring them from mechanical and geometrical properties.  The differences in femora and tibiae suggest testing only femur or tibia may result in the risk of missing important results.  Application of this toolbox of methods provides a comprehensive description of bone’s overall fitness for purpose and an understanding of the origin of any defect or enhancement in its properties.
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Abdelhadi, Mohamed Mohamed. "Posttransplantation bone disease : the effect of immunosuppressive drugs on bone: clinical and experimental studies /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-384-8/.

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Nixon, Matthew Frank. "Metabolic bone disease and arthroplasty loosening." Thesis, University of Leicester, 2009. http://hdl.handle.net/2381/8448.

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Joint degeneration requiring arthroplasty surgery and the consequences of osteoporosis are the two fundamental pathologies in orthopaedics. There are around 44,000 Medline-indexed journals about osteoporosis, and around 30,000 concerned with arthroplasty. However despite both typically occurring in a similar elderly population, only 350 (less than 0.5%) are cross-indexed. Aseptic loosening is the commonest cause of hip arthroplasty failure, with revision surgery being the only current treatment. Recent work has increased the understanding of the aetiology of aseptic loosening and studies suggest that this process may be inhibited by the use of drugs that are normally used to treat osteoporosis, such as the bisphosphonates. It has also been shown that the occult incidence of metabolic bone disease may be as high as 40% in patients undergoing primary hip arthroplasty. This study is a progression of similar work on the aetiology and control of aseptic loosening done in the same department over the proceeding few years. In the first instance a cellular model of aseptic loosening was investigated by Ong and Taylor [published in 2003]. This laboratory based project used mouse bone, and exposing it to interface membrane tissue sampled at the time of revision arthroplasty surgery. This model was described by Reynolds and Dingle in 1970, and shown to activate osteoclasts. Ong and Taylor demonstrated that osteoclast activation could be inhibited with doxycycline, suggesting that matrix metalloproteinases may be important in the pathophysiology of aseptic loosening, and that the process is potentially preventable. The work was progressed further by Ibrahim and Taylor [2004] who developed a live model of particle induced osteolysis. They measured radio-labelled calcium uptake in mouse femora following implantation of ceramic particles, sham surgery and in controls. This was shown to be a useful model of quantifying osteolysis, although they did not find a difference between the controls and those exposed to ceramic particles. The original aim of this work was to follow on from the previous work and demonstrate that osteolysis could be inhibited or reversed using pharmacological agents. Ideally this would be done in a human clinical model, and a number of drugs were considered, including doxycycline, bisphosphonates and statins. Such a project would have involved recruiting patients to a clinical trial, followed by either randomisation to treatment or control groups before commencing treatment on participants. The ideal end-point would be revision for aseptic loosening (although radiological development of loosening would be an alternative). Because hip arthroplasty is such a successful operation these end-points are both rare and often not seen for many years. Even if we assume a rather optimistic reduction in loosening of 50% using our agent, we would have to recruit several hundred participants and wait at least 10 years to get meaningful results. We therefore have had to sacrifice some of the principles of strong research in favour of a project that could be completed with a limited time-frame and a limited budget. We studied patients that had already had an arthroplasty in situ for a number of years, and in view of the multi-factorial nature of loosening (as discussed below), limited this to one type of arthroplasty. The hypothesis of this study is that patients who have an underlying disorder of bone metabolism (such as osteoporosis or vitamin D deficiency) are more likely to develop aseptic loosening. In addition we hypothesise that there are measurable clinical, radiographic and biochemical markers that help predict those likely to develop loosening. This hypothesis was investigated in 127 patients (78 patients with a loose cemented total hip replacement matched by age, gender, race, prosthesis and time from surgery with 49 patients with a well-fixed stable hip replacement)/ We then conducted four connected studies involving, clinical, radiological, DEXA and biochemical assessment for markers of loosening. The aims are detailed below, but were principally to see whether patients with loosening are more likely to markers of osteoporosis or poor bone health. Unfortunately, this study takes us no further forward with regard to whether aseptic loosening can be inhibited by specific therapeutic agents, but hopefully it helps us to better understand the pathophysiological processes involved with arthroplasty failure. These can be used in future research to help improve arthroplasty function and longevity.
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Lucas, Gavin J. A. "Genetics of Paget's disease of bone." Thesis, University of Aberdeen, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.430978.

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Chapter 3 describes the results of mutation screening of a candidate gene, SQSTM1, from one of the linkage regions implicated in the pathogenesis of PDB in families of mainly British descent.  Seven mutations that segregated with the disease were identified and all clustered in the ubiquitin-associated (UBA) domain of the protein. In Chapter 4, an association study and haplotype analysis was conducted in PDB families using SNPs in SQSTM1.  This revealed that the most common SQSTM1 mutation was predominantly carried on one of two common haplotype backgrounds, suggesting that a strong founder effect exists in this population.  The P392L mutations occurred on the same haplotype background in sporadic cases as in the PDB families, indicating that many ‘sporadic’ PDB cases may have occult familial PDB. A syndrome of PDB associated with inclusion body myopathy and dementia has recently been shown to be caused by mutations that cluster in the CDC48 domain of the VCP gene.  In Chapter 5, the VCP gene was screened for mutations in familial PDB and an association study was conducted in patients with sporadic PDB.  No mutations in this gene were found in the PDB families.  Haplotype analysis of a region spanning this gene also failed to support the involvement of polymorphisms in this gene in determining risk of sporadic PDB. In Chapter 6, genome-wide linkage analysis was conducted in PDB families without SQSTM1 mutations.  This revealed significant evidence of linkage at a locus on chromosome 10p13 (PDB6).  All families involved in this analysis were found to have a high likelihood of linkage at this locus.
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Hocking, Lynne J. "Genetics of Paget's disease of bone." Thesis, University of Aberdeen, 2002. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU160239.

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In Chapter 4, I investigated the roles of the RANK signalling partners RANK ligand (RANKL) and osteoprotegerin (OPG) in the pathogenesis of sporadic and familial PDB. One polymorphism in the RANK gene and five polymorphisms in the OPG gene were examined in sporadic PDB cases and in sex- and age-matched controls. No allele-disease or genotype-disease association was observed for the RANKL polymorphism, suggesting RANKL is not directly involved in susceptibility to sporadic PDB. Genotypes at two OPG polymorphisms did significantly predict disease status in individuals affected with sporadic PDB, suggesting a role for OPG in the pathogenesis of sporadic PDB. The five OPG polymorphisms were also examined in families affected with PDB. No evidence was found to either suggest or exclude the involvement of any of the OPG polymorphisms in familial PDB. In Chapter 5, I performed a genome-wide search for PDB susceptibility loci in families with inherited PDB. Three regions of potential linkage were identified at 2q36, 5q35 and 10p11. Fine mapping was performed for the candidate region on chromosome 5q35, and eight families with a high probability of linkage to 5q35 were identified. In seven of the families, a shared haplotype transmitted only with affected family members was present. The shared haplotype varied between families and no common allele existed in the seven families for any of the nine markers studied. However, one area of shared haplotype occurred in all seven families across three of the markers, supporting evidence for a susceptibility gene for PDB on 5q35 in these families and narrowing the candidate region. In summary, this study has further highlighted the importance of genetic heterogeneity in the pathogenesis of PDB, excluding the previously identified PDB2 susceptibility locus and identifying three novel regions potentially harbouring susceptibility loci in the families studied. This study has also further defined the role of members of the RANK signalling pathway in the pathogenesis of familial and sporadic PDB.
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Haarhaus, Mathias. "Bone alkaline phosphatase isoforms in chronic kidney disease : mineral and bone disorder." Doctoral thesis, Linköpings universitet, Avdelningen för mikrobiologi och molekylär medicin, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-111870.

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Chronic kidney disease (CKD) is associated with increased mortality and cardiovascular complications. Disturbances in mineral metabolism occur early <luring the course of CKD and several components of the CKD-mineral and bone disorder (CKD-MBD) are independent predictors of mortality. Alkaline phosphatase (ALP) is necessary for skeletal mineralization and is also involved in the process of vascular calcification. In recent years, ALP has evolved as a strong predictor of mortality in the CKD population. The significant role of ALP in the mineralization process renders it a putative target for the treatment and prevention of vascular calcification. Three circulating isoforms of bone ALP (BALP) have been identified (B/I, B 1, and B2). A fourth isoform, Blx, has been identified exclusively in serum from patients with CKD. The aim of the present thesis was to further elucidate the role ofthe BALP isoforms in CKD with respect to bone abnormalities and vascular calcification. In study I we identified the novel BALP isoform Blx in 20% of patients with mild to moderate CKD. Blx was associated with lower glomerular filtration rate and higher serum phosphate and calcium x phosphate product, which are risk factors for cardiovascular mortality in CKD. We also identified the BALP isoforms B/I, Bl and B2 as predictors of total hip bone mineral density. Study II was an experimental study, investigating the role of the BALP isoforms in phosphate induced calcification of human aortic smooth muscle cells (HASMCs). We found that the ALP expressed in HASMCs is exclusively BALP. Phosphate induced calcification of HASMCs was associated with increased BALP isoforms B/I, Blx, and B2 activities, which implies functional differences between the BALP isoforms in HASMC calcification. In study III we investigated the association of BALP isoforms in serum and histomorphometric parameters of bone in patients on chronic hemodialysis. W e identified the BALP isoform Blx as a novel marker for reduced osteoblastic activity. Study IV was a prospective cohort study of the association of serum BALP isoforms with aortic calcification and vascular stiffness in prevalent chronic dialysis patients. Blx was associated with baseline and time varying vascular stiffness, determined by pulse wave velocity, but not with calcification of the abdominal aorta. We also found an association of Blx with better event-free survival. In conclusion, these studies demonstrate that the BALP isoforms, especially isoform Blx, are involved in different aspects of CKD-MBD. This opens up for further research to identify the BALP isoforms as diagnostic markers and possible treatment targets in CKD-MBD.
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Porter, Ryan Michael. "Examination of Glucocorticoid Treatment on Bone Marrow Stroma: Implications for Bone Disease and Applied Bone Regeneration." Thesis, Virginia Tech, 2002. http://hdl.handle.net/10919/36365.

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Long-term exposure to pharmacological doses of glucocorticoids has been associated with the development of osteopenia and avascular necrosis. Bone loss may be partially attributed to a steroid-induced decrease in the osteoblastic differentiation of multipotent progenitor cells found in the bone marrow. In order to determine if there is a change in the osteogenic potential of the bone marrow stroma following glucocorticoid treatment, Sprague-Dawley rats were administered methylprednisolone for up to six weeks, then sacrificed at 0, 2, 4, or 6 weeks during treatment or 4 weeks after cessation of treatment. Femurs were collected and analyzed for evidence of steroid-induced osteopenia and bone marrow adipogenesis. Although glucocorticoid treatment did inhibit bone growth, differences in ultimate shear stress and mineral content were not detected. The volume of marrow fat increased with increasing duration of treatment, but returned to near control levels after cessation of treatment. Marrow stromal cells were isolated from tibias, cultured in the presence of osteogenic supplements, and analyzed for their capacity to differentiate into osteoblast-like cells in vitro. Glucocorticoid treatment diminished the absolute number of isolated stromal cells, but did not inhibit the relative levels of bone-like mineral deposition or osteocalcin expression and secretion. Although pharmacological glucocorticoid levels induce bone loss in vivo, physiologically equivalent concentrations have been shown to enhance the formation of bone-like tissue in vitro. However, glucocorticoids have also been reported to inhibit proliferation and type I collagen synthesis in marrow stromal cell cultures. In order to assess the effects of intermittent dexamethasone treatment on the progression of osteogenesis in rat marrow stromal cell culture, this synthetic glucocorticoid was removed from the culture medium after a variable period of initial supplementation. Cell layers were analyzed for total cell number, collagen synthesis, phenotypic marker expression, and matrix mineralization. Prolonged supplementation with dexamethasone decreased proliferation, but did not significantly affect collagen synthesis. Furthermore, increased treatment duration was found to increase bone sialoprotein expression and mineral deposition. The duration of glucocorticoid treatment may be a key factor for controlling the extent of differentiation in vitro.
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Good, David Andrew, and n/a. "Genetic Loci for Paget's Disease of Bone." Griffith University. School of Biomolecular and Biomedical Science, 2003. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040319.125358.

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Paget's disease of the bone is a skeletal disorder of unknown cause. This disease is characterised by excessive and abnormal bone remodelling brought about by increased bone resorption followed by disorganised bone formation. Increased bone turnover results in a disorganised mosaic of woven and lamellar bone at affected skeletal sites. This produces bone that is expanded in size, less compact, more vascular, and more susceptible to deformity or fracture than normal bone. Symptoms of Paget's disease may include bone pain, bone deformity, excessive warmth over bone from hypervascularity, secondary arthritis, and a variety of neurologic complications caused in most instances by compression of the neural tissues adjacent to pagetic bone. Genetic factors play a role in the pathogenesis of Paget's disease but the molecular basis remains largely unknown. The identification of the molecular basis of Paget's disease is fundamental for an understanding of the cause of the disease, for identifying subjects at risk at a preclinical stage, and for the development of more effective preventive and therapeutic strategies for the management of the condition. With this in mind, the aim of this project is to identify genetic loci, in a large pedigree, that may harbour genes responsible for Paget's disease of bone. A large Australian family with evidence of Paget's disease was recruited for these studies (Chapter 3). This pedigree has characterised over 250 individuals, with 49 informative individuals affected with Paget's disease of bone, 31 of whom are available for genotypic analysis. The pattern of disease in these individuals is polystotic, with sites of involvement including the spine, pelvis, skull and femur. Although the affected individuals have a severe early-onset form of the disease, the clinical features of the pedigree suggest that the affected family members have Paget's disease and not familial expansile osteolysis (a disease with some similarities to Paget's disease), as our patients have extensive skull and axial skeletal involvement. The disease is inherited as an autosomal dominant trait in the pedigree with high penetrance by the sixth decade. Due to the large size of this family and multiple affected members, this pedigree is a unique resource for the detection of the susceptibility gene in Paget's disease. The first susceptibility loci for Paget's disease of bone have been mapped by other investigators to chromosome 6p21 (PDB1) and 18q21.1-q22 (PDB2) in different pedigrees. Linkage analysis of the Australian pedigree in these studies was performed with markers at PDB1: these data showed significant exclusion of linkage, with LOD scores < - 2 in this region (Chapter 4). Linkage analysis of microsatellite markers from the PDB2 region excluded linkage with this region also, with a 30 cM exclusion region (LOD score < -2.0) centred on D18S42 (Chapter 4). This locus on chromosome 18q21.1-q22 contains a serine protease (serpin) cluster with similarities to chromosome 6p21. Linkage analysis of this region also failed to provide evidence of linkage to this locus (Chapter 4). These data are consistent with genetic heterogeneity of Paget's disease of bone. A gene essential for osteoclast formation encoding receptor activator of nuclear factor-kB (RANK), TNFRSF11A, has been previously mapped to the PDB2 region. Mutations in the TNFRSF11A gene have been identified segregating in pedigrees with Familial Expansile Osteolysis and early onset familial Paget's disease, however, linkage studies and mutation screening have excluded the involvement of RANK in the majority of Paget's disease patients. For the Australian pedigree, mutation screening at the TNFRSF11A locus revealed no mutations segregating with affected individuals with Paget's disease (Chapter 4). Based on these findings, our hypothesis is that a novel susceptibility gene relevant to the pathogenesis of Paget's disease of bone lies elsewhere in the genome in the affected members of this pedigree; this gene should be identifiable using a microsatellite genome-wide scan followed by positional cloning. A genome-wide scan of the Australian pedigree was carried out, followed by fine mapping and multipoint analysis in regions of interest (Chapter 5). The peak 2-point LOD scores from the genome-wide scan were LOD = 2.75 at D7S507 and LOD = 1.76 at D18S70. Two additional regions were also considered for fine mapping: chromosome 19p11-q13.1 with a LOD of 1.58 and chromosome 5q35-qter with a LOD of 1.57. Multipoint and haplotype analysis of markers flanking D7S507 did not support linkage to this region (Chapter 5). Similarly, fine mapping of chromosome 19p11-q13.1 failed to support linkage to this region (Chapter 5). Linkage analysis with additional markers in the region on chromosome 5q35-qter revealed a peak multipoint LOD score of 6.77 (Chapter 5). A distinct haplotype was shown to segregate with all members of the family, except the offspring of III-5 and III-6. Haplotype analysis of markers flanking D18S70 demonstrated a haplotype segregating with Paget's disease in a large sub-pedigree (descendants of III-3 and III-4) (Chapter 5). This sub-pedigree had a significantly lower age at diagnosis than the rest of the pedigree (51.2 + 8.5 vs. 64.2 + 9.7 years, p = 0.0012). Linkage analysis of this sub-pedigree demonstrated a peak two-point LOD score of 4.23 at marker D18S1390 (q = 0.00), and a peak multipoint LOD score of 4.71, at marker D18S70. An implication of these data is that 18q23 harbours a novel modifier gene for reducing the age of onset of Paget's disease of bone. A number of candidate Paget's genes have previously been identified on chromosome 18q23, including the nuclear factor of activated T cells (NFATc1), membrane-associated guanylated kinase (MAGUK) and a zinc finger protein. Candidate gene sequencing of these genes in these studies has failed to identify mutations segregating with affected family members in the sub-pedigree linked to chromosome 18q23 (Chapter 6). More recently, a mutation in the gene encoding the ubiquitin-binding protein sequestosome 1 (SQSTM/p62) has been shown to segregate with affected members of Paget's disease families of French-Canadian origin. In this study, a single base pair deletion (1215delC) was identified as segregating with the majority of affected members in the pedigree (Chapter 6). This deletion introduces a stop codon at amino acid position 392 which potentially results in early termination of the protein and loss of the ubiquitin binding domain. The three affected members of the family that do not share the affected haplotype do not carry a mutation in the coding region of SQSTM/p62. Screening of affected members from 10 further Paget's disease families identified the previously reported P392L mutation in 2 (20%) families. No SQSTM1/p62 coding mutations have been found in the remaining 8 families or in 113 aged matched controls. In conclusion, this project has identified genetic loci and mutations that segregate with individuals affected with Paget's disease. Further investigation of the functional significance of the genetic changes at these loci is expected to lead to a better understanding of the molecular basis of this disease.
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Books on the topic "Bone disease"

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McKillop, James H. Benign and malignant bone disease. Edinburgh: Churchill Livingstone, 1990.

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R, Reid I., ed. Metabolic bone disease. London: Baillière Tindall, 1997.

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Lecka-Czernik, Beata, and John L. Fowlkes, eds. Diabetic Bone Disease. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-16402-1.

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Diel, Ingo J., M. Kaufmann, and G. Bastert, eds. Metastatic Bone Disease. Berlin, Heidelberg: Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-642-78596-2.

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Roodman, G. David, ed. Myeloma Bone Disease. Totowa, NJ: Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60761-554-5.

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Randall, R. Lor, ed. Metastatic Bone Disease. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-5662-9.

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Roodman, G. David. Myeloma bone disease. New York: Humana, 2010.

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D, Tiegs Robert, ed. Metabolic bone disease. Philadelphia: Saunders, 1989.

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D, Tiegs Robert, ed. Metabolic bone disease. Philadelphia: Saunders, 1990.

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J, Maricic Michael, and Gluck Oscar S. 1949-2003, eds. Bone disease in rheumatology. Philadelphia: Lippincott Williams & Willkins, 2005.

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Book chapters on the topic "Bone disease"

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Helliwell, Philip S., Howard A. Bird, and Verna Wright. "Bone Disease." In Rheumatology, 138–46. London: Springer London, 1989. http://dx.doi.org/10.1007/978-1-4471-1691-2_9.

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Terpos, Evangelos, Nikolaos Kanellias, and Noopur Raje. "Bone Disease." In Hematologic Malignancies, 111–40. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-25586-6_7.

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Mays, Simon. "Bone disease." In The Archaeology of Human Bones, 181–217. 3rd ed. Third edition. | New York : Routledge, 2021.: Routledge, 2021. http://dx.doi.org/10.4324/9781315171821-8.

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Terpos, Evangelos. "Bone disease." In Handbook of Multiple Myeloma, 79–90. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-18218-6_6.

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Bartl, Reiner, and Christoph Bartl. "Ischaemic Bone Disease." In Bone Disorders, 397–405. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-29182-6_71.

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Paulos, Jaime. "Paget’s Disease of Bone." In Bone Tumors, 177. London: Springer London, 2021. http://dx.doi.org/10.1007/978-1-4471-7501-8_30.

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Boyce, B. F., and H. Chen. "Normal Bone Remodeling and Metastatic Bone Disease." In Metastatic Bone Disease, 46–58. Berlin, Heidelberg: Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-642-78596-2_5.

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Revell, Peter A. "Metabolic Bone Disease." In Pathology of Bone, 113–46. London: Springer London, 1986. http://dx.doi.org/10.1007/978-1-4471-1377-5_5.

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Drake, Matthew T. "Myeloma Bone Disease." In Multiple Myeloma, 211–23. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8520-9_17.

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Kelekis, Alexios, and Dimitrios K. Filippiadis. "Bone Metastatic Disease." In Image-Guided Interventions in Oncology, 215–24. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-48767-6_12.

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Conference papers on the topic "Bone disease"

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Favus, Murray J., James C. Williams, Andrew P. Evan, James E. Lingeman, and James A. McAteer. "Hypercalciuric Bone Disease." In RENAL STONE DISEASE 2: 2nd International Urolithiasis Research Symposium. AIP, 2008. http://dx.doi.org/10.1063/1.2998016.

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Cox, L. G. E., C. C. van Donkelaar, B. van Rietbergen, and K. Ito. "Mechanoregulated Bone Remodeling May Explain Bone Structural Changes Observed in Osteoarthritis." In ASME 2010 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2010. http://dx.doi.org/10.1115/sbc2010-19583.

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Osteoarthritis (OA) affects both the articular cartilage and the subchondral bone. It is a complicated disease, associated with conditions varying from obesity and strenuous exercise to joint malalignment, anterior cruciate ligament (ACL) injury, and even metabolic bone diseases. Patients suffer from chronic joint pain and limitation of motion, and no cure is yet available. For many years, medical therapies have been focused on cartilage, because bone changes were thought not to play a major role in the OA disease process. However, it has been shown that bone changes occur in an early stage of OA, and that alterations to subchondral bone can lead to cartilage degeneration [1]. Therefore, currently the bone is considered as a therapeutic target as well.
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Alzahr, A., M. Mansour, and B. Knof. "Paget's disease in temporal bone." In Abstract- und Posterband – 89. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Forschung heute – Zukunft morgen. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1640234.

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Bahri, ME, S. Othmani, F. Msaddek, B. Louzir, and MO Bahri. "THU0162 Bone involvement in gaucher disease." In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.1064.

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Gamba, Gerardo, Daniela Riccardi, James C. Williams, Andrew P. Evan, James E. Lingeman, and James A. McAteer. "Cell Biology of Thiazide Bone Effects." In RENAL STONE DISEASE 2: 2nd International Urolithiasis Research Symposium. AIP, 2008. http://dx.doi.org/10.1063/1.2998060.

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Evan, Andrew P., Sharon B. Bledsoe, James C. Williams, Andrew P. Evan, James E. Lingeman, and James A. McAteer. "Bone Genes in the Kidney of Stone Formers." In RENAL STONE DISEASE 2: 2nd International Urolithiasis Research Symposium. AIP, 2008. http://dx.doi.org/10.1063/1.2998053.

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Hu, M., J. Cheng, S. Ferreri, F. Serra-Hsu, W. Lin, and Y. X. Qin. "Mitigation of Bone Loss by Dynamic Hydraulic Pressure Stimulation in a Rat Disuse Model." In ASME 2010 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2010. http://dx.doi.org/10.1115/sbc2010-19392.

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Osteoporosis is a skeletal disease resulting in diminished bone mass and altered bone microstructure, which leads to more fragile bones that have higher risk of fractures[1]. Approximately 44 million people have been diagnosed for osteoporosis nationwide[2]. It also causes nearly 1.5 million fractures annually. In order to prevent from such bone loss and to enhance bone quality, effective clinical treatments, e.g. using non-pharmacological approach, are in great need.
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Subramanian, Ganesh K., Tripti Papneja, and Elaine Yacyshyn. "Bone Health In Patients With Interstitial Lung Disease." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a1538.

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Woo, D. G., Q. J. Lee, W. P. Park, C. Y. Ko, D. Lim, H. S. Kim, and B. Y. Lee. "Relationship Between Obesity and Osteopenia in Lumbar Spines of Rats Using Mechanical and Morphological Studies." In ASME 2008 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2008. http://dx.doi.org/10.1115/sbc2008-192537.

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Obesity (OB) and osteopenia (OP), grave consequences for human health, quality of life, and even the efficiency of the labor force and economy, are two common complex diseases. Two public health problems have exploded in prevalence over the past decade [1]. OB, now a major epidemic in the developed world and frequent among elderly subjects, is a condition of excessive body fat that causes or exacerbates several risk of developing non-insulin dependent diabetes mellitus, cardiovascular disease, cancer and other diseases [2]. OP is defined as a systemic skeletal disease caused by low bone mass and microstructural deterioration of the bone.
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Miller, Lisa M., David Hamerman, Mark R. Chance, and Cathy S. Carlson. "Analysis of bone protein and mineral composition in bone disease using synchrotron infrared microspectroscopy." In SPIE's International Symposium on Optical Science, Engineering, and Instrumentation, edited by G. L. Carr and Paul Dumas. SPIE, 1999. http://dx.doi.org/10.1117/12.366634.

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Reports on the topic "Bone disease"

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Hansen, Marc. The Nature of Expansion of Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, April 2013. http://dx.doi.org/10.21236/ada586286.

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Hansen, Marc F. Understanding the Delay in Onset of Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, September 2014. http://dx.doi.org/10.21236/ada613442.

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Hansen, Marc. On the Nature of Expansion of Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, October 2012. http://dx.doi.org/10.21236/ada573353.

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Kurihara, Noriyoshi. Role of TAF12 in the Increased VDR Activity in Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, October 2014. http://dx.doi.org/10.21236/ada613487.

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Kurihara, Noriyoshi. Role of TAF12 in the Increased VDR Activity in Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, October 2013. http://dx.doi.org/10.21236/ada599600.

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Wu, Zijian, Liang Li, Guiling Wu, Youqiong Xie, Jia Li, and Rui Peng. Effects of Tonifying Kidney and Strengthen Bone Therapy on Non-dialysis Patients With Chronic Kidney Disease-Mineral and Bone Disorder: a protocol for the systematic review and meta-analysis of randomized controlled trials. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, December 2020. http://dx.doi.org/10.37766/inplasy2020.12.0086.

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Xiang, Kemeng, Huiming Hou, and Ming Zhou. The efficacy of Cerus and Cucumis Polypeptide injection combined with Bisphosphonates on postmenopausal women with osteoporosis:A protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, May 2022. http://dx.doi.org/10.37766/inplasy2022.5.0067.

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Review question / Objective: The aim of this review is to evaluate the effectiveness of Cerus and Cucumis Polypeptide injection combined with Bisphosphonates for postmenopausal osteoporosis. Condition being studied: Postmenopausal osteoporosis (PMOP) is a disorder of bone metabolism caused by estrogen deficiency in women after menopause, which manifests clinically as pain, spinal deformities and even fragility fractures, affecting the quality of life of patients and possibly shortening their life span. Bisphosphonates are commonly used to control and delay the progression of the disease, improve the patient's symptoms and reduce the incidence of fragility fractures. However, single drugs are still lacking in controlling the progression of the disease, and the combination of drugs is the clinical priority.
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Goldstein, Neal. Epidemiology Blog of Neal D. Goldstein, PhD, MBI. Neal D. Goldstein, 2023. http://dx.doi.org/10.17918/goldsteinepi.

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Musings on topics related to epidemiology, epidemiological methods, public and clinical health. Written by Neal D. Goldstein, PhD, MBI. Dr. Goldstein is an Associate Professor of Epidemiology at the Drexel University Dornsife School of Public Health. With a background in biomedical informatics, he focuses on computational approaches in complex data settings, especially electronic health records and disease surveillance, to understand infectious disease transmission. This has been demonstrated through his work with blood borne pathogens (HIV and hepatitis C), COVID-19, vaccine preventable diseases, and healthcare associated infections.
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Kelman, Ilan. Climate change doesn’t have to mean more insect-borne disease. Edited by Sarah Bailey. Monash University, April 2022. http://dx.doi.org/10.54377/b810-1d8d.

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Anders, Katie. New tools needed to control the spread of mosquito-borne disease. Monash University, April 2022. http://dx.doi.org/10.54377/8fc0-e89d.

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