Useful References Published Articles Here are just a selection of the many published articles relating to Paget’s disease. If you have something you would like to add to this list please contact us: helpline@paget.org.uk 2015 Rami Obaid, Sachin E. Wani, Asim Azfer, Toby Hurd, Ruth Jones, Philip Cohen, Stuart H. Ralston, Omar M.E. Albagha, (2015), Optineurin Negatively Regulates Osteoclast Differentiation by Modulating NF-κB and Interferon Signaling: Implications for Paget’s Disease. Cell Reports. 13, 1–7 November 10. Maheva Vallet, Dinesh C. Soares, Sachin Wani, Antonia Sophocleous, Jon Warner, Donald M. Salter, Stuart H. Ralston and Omar M.E. Albagha, (2015), Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone, Human Molecular Genetics, Oxford University Press. Rendina, D., De Filippo, G., Ralston, S. H., Merlotti, D., Gianfrancesco, F., Esposito, T., Muscariello, R., Nuti, R., Strazzullo, P. and Gennari, L. (2015), Clinical Characteristics and Evolution of Giant Cell Tumor Occurring in Paget's Disease of Bone. J Bone Miner Res, 30: 257–263 Zimmermann, E. A., Köhne, T., Bale, H. A., Panganiban, B., Gludovatz, B., Zustin, J., Hahn, M., Amling, M., Ritchie, R. O. and Busse, B. (2015), Modifications to Nano- and Microstructural Quality and the Effects on Mechanical Integrity in Paget's Disease of Bone. J Bone Miner Res, 30: 264–273 Merashli, M., Jawad, A., (20915) Paget’s Disease of Bone among Various Ethnic Groups, Sultan Qaboos Univ Med J. Feb; 15(1): e22–e26. Published online 2015 Jan 21. Khan, A. A., Morrison, A., Hanley, D. A., Felsenberg, D., McCauley, L. K., O'Ryan, F., Reid, I. R., Ruggiero, S. L., Taguchi, A., Tetradis, S., Watts, N. B., Brandi, M. L., Peters, E., Guise, T., Eastell, R., Cheung, A. M., Morin, S. N., Masri, B., Cooper, C., Morgan, S. L., Obermayer-Pietsch, B., Langdahl, B. L., Al Dabagh, R., Davison, K. S., Kendler, D. L., Sándor, G. K., Josse, R. G., Bhandari, M., El Rabbany, M., Pierroz, D. D., Sulimani, R., Saunders, D. P., Brown, J. P., Compston, J. and on behalf of the International Task Force on Osteonecrosis of the Jaw (2015), Diagnosis and Management of Osteonecrosis of the Jaw: A Systematic Review and International Consensus. J Bone Miner Res, 30: 3–23. 2014 Goode A, Long JE, Shaw B, Ralston SH, Visconti MR, Gianfrancesco F, Esposito T, Gennari L, Merlotti D, Rendina D, Rea SL, Sultana M, Searle MS, Layfield R. Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function. Biochim Biophys Acta. 2014;1842(7):992-1000. 1 Rea SL, Majcher V, Searle MS, Layfield R. SQSTM1 mutations - bridging Paget disease of bone and ALS/FTLD. Exp Cell Res. 2014;325(1):27-37. Devogelaer, J., Geusens, P., Daci, E., Gielen, E., Denhaerynck, K., MacDonald, K., Hermans, C., Vancayzeele, S., Abraham, I., Boonen, S. (2014), Remission Over 3 Years in Patients with Paget Disease of Bone Treated with a Single Intravenous Infusion of 5 mg Zoledronic Acid. Calcified Tissue International. March, Volume 94, Issue 3, pp 311-318 M J Haddaway, M W J Davie, I W McCall, and S Howdle, (2014), Effect of age and gender on the number and distribution of sites in Paget's disease of bone. The British Institute of Radiology, Vol 80, Issue 955. Tan, A., Ralston, S.H., (2014), Clinical Presentation of Paget's Disease: Evaluation of a Contemporary Cohort and Systematic Review, Calcified Tissue International, Aug 27. Frederick R. Singer, Henry G. Bone, III, David J. Hosking, Kenneth W. Lyles, Mohammad Hassan Murad, Ian R. Reid, and Ethel S. Siris, (2014), Paget’s Disease of Bone: An Endocrine Society Clinical Practice Guideline, The Journal of Clinical Endocrinology & Metabolism, Vol 99, Issue 12 Shapiro, Irving; Layfield, Robert; Lotz, Martin; Settembre, Carmine; and Whitehouse, Caroline, (2014), "Boning up on autophagy: the role of autophagy in skeletal biology." Department of Orthopaedic Surgery Faculty Papers. Paper 69. 2013 Joanne L Welton, Matt P Morgan, Salvador Martí, Michael D Stone,Bernhard Moser, Andrew K Sewell, Jane Turton, Matthias Eberl. Monocytes and γδ T cells control the acute phase response to intravenous zoledronate: Insights from a phase IV safety trial. JBMR 2013 28: 464-471 Cundy, T., Bolland, M.J., (2013), Paget’s disease of bone: clinical review and update. Journal of Clinical Pathology. Nov; 66(11): 924-7 Patel DV, Horne A, House M, Reid IR, McGhee CN. (2013), The incidence of acute anterior uveitis after intravenous zoledronate. Ophthalmology. 120:773–776. Ralston SH (2013) Clinical practice. Paget’s disease of bone. N Engl J Med 368:644–650 Corral-Gudino L, Garcia-Aparicio J, Sanchez-Gonzalez MD, Miron-Canelo JA, Blanco JF, Ralston SH, Del PinoMontes J. (2013) Secular changes in Paget’s disease: contrasting changes in the number of new referrals and in disease severity in two neighboring regions of Spain. Osteoporos Int 24:443–450 2 Albagha OM, Visconti MR, Alonso N, Wani S, Goodman K, Fraser WD, Gennari L, Merlotti D, Gianfrancesco F, Esposito T, Rendina D, Di Stefano M, Isaia G, Brandi ML, Guisti F, Del Pino-Montes J, Corral-Gudino L, Gonzalez-Sarmiento R, Ward L, Rea SL, Ratajczak T, Walsh JP, Ralston SH (2013) Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget’s disease. J Bone Miner Res 28:2238–2246 Corral-Gudino L, Borao-Cengotita-Bengoa M, Del Pino-Montes J, Ralston SH (2013) Epidemiology of Paget’s disease of bone: a systematic review and meta-analysis of secular changes. Bone 55:347–352 Qureshi, A., Zahid, K. F., Ibrahim, S. I., & Burney, I. (2013). Osteosarcoma arising on a background of Paget's disease report of an unusual case. BMJ Case Rep Reid, I.R., Brown, J.P., Levitt, N., Román Ivorra, J.A., Bachiller-Corral, J., Ross, I.L., Su, G., Antunez-Flores, O., Aftring, R.P., (2013), Re-treatment of relapsed Paget’s disease of bone with zoledronic acid: results from an open-label study. BoneKEy Reports, 2, 442. Available at www.nature.com 2012 Ian R Reid, Kenneth Lyles, Guoqin Su, Jacques P Brown, John P Walsh, Javier del Pino-Montes, Paul D Miller, William D Fraser, Susan Cafoncelli, Christina Bucci-Rechtweg, David J Hosking (2012) A Single Infusion of Zoledronic Acid Produces Sustained Remissions in Paget Disease: Data to 6.5 Years. Journal of Bone Mineral Research. Sep; 26(9):2261-70. Wark JD, Bensen W, Recknor C, et al. (2012), Treatment with acetaminophen/paracetamol or ibuprofen alleviates post-dose symptoms related to intravenous infusion with zoledronic acid 5 mg. Osteoporos. Int. 23:503–512. Hocking, L. J., Whitehouse, C. and Helfrich, M. H. (2012) Autophagy: A new player in skeletal maintenance? J Bone Miner Res, 27: 1439–1447 Peter Schwarz, Anne Qvist Rasmussen, Torben M. Kvist, Ulrik B. Andersen, et al. (2012) Paget's disease of the bone after treatment with Denosumab: A case report Bone Vol. 50 (5), 1023-1025 How T.L., George G.H.M. (2012) Paget’s disease. Geriatric Medicine. 2011 Ian R. Reid , D.J. Hosking (2011) Bisphosphonates in Paget's disease. Bone 49, 89–94 Laëtitia Michou, Jacques P Brown. (2011) Drug Design Emerging strategies and therapies for treatment of Paget’s disease of bone, Development and Therapy, 5 225–239 R. Graham, G. Russell. (2011), Bisphosphonates: The first 40 years, UK Bone 49, 2–19 3 Calabro, T., Mavrogenis, A. F., & Ruggieri, P. (2011). Osteoblastic osteosarcoma in monostotic Paget's disease. Musculoskelet Surg, 95(1), 37-40. 2010 Anne Sutcliffe (2010) Paget’s: The neglected bone disease. International Journal of Orthopaedic and Trauma Nursing 14, 142–149 A Goode, R Layfield (2010) Recent advances in understanding the molecular basis of Paget disease of bone J Clin Pathol;63:199e203. Gennari, L., Gianfrancesco, F., Di Stefano, M., Rendina, D., Merlotti, D., Esposito, T., Gallone, S., Fusco, P., Rainero, I., Fenoglio, P., Mancini, M., Martini, G., Bergui, S., De Filippo, G., Isaia, G., Strazzullo, P., Nuti, R. and Mossetti, G (2010), SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone. J Bone Miner Res, 25: 1375–1384. Z. Fojtik, K. Stary, L. Prochazkova, M. Obrovska (2010) Monostotic Paget's disease of the mandible Bone Vol. 47Supplement 1, Page S226 Mays, S. (2010) Archaeological skeletons support a northwest European origin for Paget's disease of bone. J Bone Miner Res, 25: 1839–1841 Visconti, M. R., Langston, A. L., Alonso, N., Goodman, K., Selby, P. L., Fraser, W. D. and Ralston, S. H. (2010) Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone. J Bone Miner Res, 25: 2368–2373 Langston A.L., Campbell M. K., Fraser W.D., MacLennan G.S., Selby P., Ralston S.H. 2010 Randomised trial of intensive versus symptomatic management in Paget’s disease of bone. Journal of Bone and Mineral Research. 25: 1 20-31 2007 – 2009 Mangham DC, MW Davie, RJ Grimer. (2009) Sarcoma arising in Paget’s disease of bone: declining incidence and increasing age at presentation. Bone 44 (3): 431–36 Ralston S.H. (2008) Juvenile Paget's disease, familial expansile osteolysis and other genetic osteolytic disorders. Best Practice Res Clin Rheumatol 22 (1):101–111 Langston AL, Campbell MK, Fraser WD, MacLennan G, Selby P, Ralston SH. (2007) Clinical determinants of quality of life in Paget’s disease of bone. Calcif Tissue Int. 80:1–9. 4 Singer F.R.(2009) Paget disease: when to treat and when not to treat Nature reviews. Rheumatology, vol./is. 5/9(483-489), 1759-4804 Ralston S.H., Langston A.L., Reid I.R. (2008) Pathogenesis and management of Paget’s Disease of bone. Lancet. 372; 155-163. Ralston S.H. (2008) Pathogenesis of Paget's disease of bone Bone,. 43/5(819-825), 8756-3282 Deyrup, A.T., et al., (2007) Sarcomas arising in Paget disease of bone: a clinicopathologic analysis of 70 cases. Arch Pathol Lab Med, 131 (6): 942-6. Langston, A.L., Campbell, M.K., Fraser, W.D., MacLennan, G., Selby, P., Ralston, S.H. for the PRISM Trial Group, (2007). Clinical determinants of life in Paget’s disease of bone. Calcif. Tissue Int. 80, 1–9. Stuart H Ralston, Anne L Langston, Ian R Reid Pathogenesis and management of Paget’s disease of bone (2008) Lancet 372: 155–63 Tuck SP, Fordham JN. The Current Management of Paget's Disease. Prescriber March 2001; 12 (5): 97-102. Wermers RA, Tiegs RD, Atkinson EJ, Achenbach SJ, Melton LJ. (2008) Morbidity and mortality associated with Paget’s disease of bone: a population based study. J. Bone Miner. Res. 6:819–825 European Medicines Agency (EMA), (2009). EMEA/CHMP/292475/2009. Questions and Answers on the Review of Bisphosphonates and the Risk of Osteonecrosis of the Jaw. Older Williams AE, O’Neill TW, Mercer S, Toro B, Nester CJ. Foot Pathology in Patients with Paget's Disease of Bone. J Am Podiatr Med Assoc 2006; 96(3): 226-231. Reid I.R., Miller P., Lyles K., et al. (2005) Comparison of a single infusion of zoledronic acid with risedronate for Paget’s disease. New England Journal of Medicine. 353:898-908. Tuck SP, Fordham JN. (2001), The Current Management of Paget's Disease. Prescriber, March; 12 (5): 97102. Parvizi J, Klein GR, Sim FH.(2006) Surgical management of Paget’s disease of bone. J Bone Miner Res ; 21 Suppl 2: 75–82 Choma TJ, et al., (2004) Paget’s disease of bone in patients younger than 40 years. Clin Orthop Relat Res 418: 202–4 5 Monsell, E.M., (2004) The mechanism of hearing loss in Paget’s disease of bone. Laryngoscope 114(4): 598–606 Mercer S, O’Neill TW. A brighter future for patients with Paget's disease. Professional Nurse 2002;17:36032. van Staa TP, et al. (2002) Incidence and natural history of Paget’s disease of bone in England and Wales. J Bone Miner Res. 17(3): 465–71 Hocking LJ, et al. (2002) Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget’s disease. Hum Mol Genet 11(22): 2735–9 Subramanian Shankar and David J Hosking (2006) Biochemical Assessment of Paget’s Disease of Bone JOURNAL OF BONE AND MINERAL RESEARCH Volume 21, Supplement 2 Poor G, Donath J, Fornet B, Cooper C. (2006) Epidemiology of Paget’s disease in Europe: the prevalence is decreasing. J. Bone Miner. Res. 21:1545–1549 Van Staa TP, Selby P, Leufkens HG, Lyles K, Sprafka JM, Cooper C. (2002) Incidence and natural history of Paget’s disease of bone in England and Wales. J. Bone Miner. Res. 17:465–471 Barker DJ, Chamberlain AT, Guyer PB, Garner MJ. (1980) Paget’s disease of bone: the Lancashire focus. BMJ. 280:1105–1107 Detheridge FM, Guyer PB, Barker DJ. (1982) European distribution of Paget’s disease of bone. Br. Med. J. (Clin. Res. Ed.). 285:1005–1008 Paget J. (1877) A form of chronic inflammation of bones (osteitis deformans). Med. Chir. Trans. (Lond.).;60:37–64 Tuck SP, Fordham JN. The Current Management of Paget's Disease. Prescriber March 2001; 12 (5): 97-102. Books The following books contain sections specifically relating to Paget’s disease. Genetics R.V., Whyte, M.P., Eisman, J., Igarashi, T., (Eds) (2012), Genetics of Bone Biology and Skeletal Disease (Academic Press), Oxford: Elsevier Science Publishing Co Inc. (Chapter 19: Paget’s Disease) Nursing Bullock, I., Macleod Clark, J., Rycroft-Malone, J., (Eds) (2012), Adult Nursing Practice, Oxford University Press. (Paget’s disease: p 42 – 45) 6 7