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Paget's disease of bone

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https://www.readbyqxmd.com/read/28525684/223ra-dichloride-response-in-a-patient-with-paget-disease-and-bone-metastases-secondary-to-castration-resistant-prostate-cancer
#1
Lina García Cañamaque, Cristina Rioja Parada, Paloma García De la Peña
PURPOSE: Paget disease is commonly asymptomatic and discovered when an imaging test is performed for another clinical indication or when elevated serum alkaline phosphatase is found. Bone pain usually appears late in the disease process and is only present in a minority of patients. For diagnosis, X-ray and bone scan are the most recommended imaging methods; radionuclide imaging of the skeleton has become the standard, since it is the most sensitive test for detecting increased bone activity...
May 18, 2017: Tumori
https://www.readbyqxmd.com/read/28525460/coexistent-superscan-and-lincoln-sign-on-bone-scintigraphy
#2
Mukta Kulkarni, Atul Soni, Shubhangi Shetkar, Momin Amer, Amruta Mulavekar, Prathamesh Joshi
A 70-year-old man underwent Tc-methylene diphosphonate scintigraphy for staging of adenocarcinoma prostate. Scintigraphy revealed diffuse increased tracer uptake in skeletal system along with faint renal visualization, a pattern compatible with metastatic superscan. The scintigraphy also revealed increased radiotracer uptake in the body of the mandible-Lincoln sign or black beard sign. Radiological imaging revealed sclerotic lesions throughout the skeleton including the mandible, confirming widespread skeletal metastases...
May 19, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28524179/a-fkbp5-mutation-is-associated-with-paget-s-disease-of-bone-and-enhances-osteoclastogenesis
#3
Bingru Lu, Yulian Jiao, Yinchang Wang, Jing Dong, Muyun Wei, Bin Cui, Yafang Sun, Laicheng Wang, Bingchang Zhang, Zijiang Chen, Yueran Zhao
Paget's disease of bone (PDB) is a common metabolic bone disease that is characterized by aberrant focal bone remodeling, which is caused by excessive osteoclastic bone resorption followed by disorganized osteoblastic bone formation. Genetic factors are a critical determinant of PDB pathogenesis, and several susceptibility genes and loci have been reported, including SQSTM1, TNFSF11A, TNFRSF11B, VCP, OPTN, CSF1 and DCSTAMP. Herein, we report a case of Chinese familial PDB without mutations in known genes and identify a novel c...
May 19, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/28512218/ubiquitin-and-atp-dependent-unfoldase-activity-of-p97-vcp%C3%A2-nploc4%C3%A2-ufd1l-is-enhanced-by-a-mutation-that-causes-multisystem-proteinopathy
#4
Emily E Blythe, Kristine C Olson, Vincent Chau, Raymond J Deshaies
p97 is a "segregase" that plays a key role in numerous ubiquitin (Ub)-dependent pathways such as ER-associated degradation. It has been hypothesized that p97 extracts proteins from membranes or macromolecular complexes to enable their proteasomal degradation; however, the complex nature of p97 substrates has made it difficult to directly observe the fundamental basis for this activity. To address this issue, we developed a soluble p97 substrate-Ub-GFP modified with K48-linked ubiquitin chains-for in vitro p97 activity assays...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28506889/nfam1-signaling-enhances-osteoclast-formation-and-bone-resorption-activity-in-paget-s-disease-of-bone
#5
Yuvaraj Sambandam, Kumaran Sundaram, Takamitsu Saigusa, Sundaravadivel Balasubramanian, Sakamuri V Reddy
Paget's disease of bone (PDB) is marked by the focal activity of abnormal osteoclasts (OCLs) with excess bone resorption. We previously detected measles virus nucleocapsid protein (MVNP) transcripts in OCLs from patients with PDB. Also, MVNP stimulates pagetic OCL formation in vitro and in vivo. However, the mechanism by which MVNP induces excess OCLs/bone resorption activity is unclear. Microarray analysis identified MVNP induction of NFAM1 (NFAT activating protein with ITAM motif 1) expression. Therefore, we hypothesize that MVNP induction of NFAM1 enhances OCL differentiation and bone resorption in PDB...
May 12, 2017: Bone
https://www.readbyqxmd.com/read/28498272/paget-s-disease-of-the-temporal-bone-a-single-institution-contemporary-review-of-27-patients
#6
Nicholas L Deep, Jake G Besch-Stokes, John I Lane, Colin L W Driscoll, Matthew L Carlson
OBJECTIVES: To report a contemporary review from a single-institution series on Paget's disease of the temporal bone (PDTB). STUDY DESIGN: Retrospective chart review of patients evaluated from 1998 to 2016. SETTING: Quaternary referral center. PATIENTS: Patients with radiographically confirmed PDTB. MAIN OUTCOME MEASURES: Clinical, audiological, and radiological features and management strategies of PDTB...
May 11, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28481796/18f-sodium-fluoride-pet-ct-in-paget-disease
#7
Francesca Cucchi, Lene Simonsen, Annemette Geilager Abild-Nielsen, Rikke Broholm
Paget disease (PD) of bone is a benign but chronic disorder of bone metabolism. We report a case of an 85-year-old man with several fractures in the pelvis and radiograph raising suspicion of metastases. An F-NaF PET/CT demonstrated high F-NaF uptake in the same regions. The integrated assessment of imaging findings, supported by biochemistry, allowed diagnosing PD. The F-NaF PET/CT is a supplementary diagnostic instrument in the diagnosis of PD, and use of F-NaF PET/CT in this context, especially finalized to the differential diagnosis with metastatic lesions, requires the physician to be familiar with imaging patterns of this disease...
May 6, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28473965/total-hip-arthroplasty-in-patients-with-paget-s-disease-of-bone-a-systematic-review
#8
Sammy A Hanna, Sebastian Dawson-Bowling, Steven Millington, Rej Bhumbra, Pramod Achan
AIM: To investigate the clinical and functional outcomes following total hip arthroplasty (THA) in patients with Paget's disease. METHODS: We carried out a systematic review of the literature to determine the functional outcome, complications and revision rates of THA in patients with Paget's disease. Eight studies involving 358 hips were reviewed. The mean age was 70.4 years and follow-up was 8.3 years. There were 247 cemented THAs (69%), 105 uncemented THAs (29%) and 6 hybrid THAs (2%)...
April 18, 2017: World Journal of Orthopedics
https://www.readbyqxmd.com/read/28454368/anti-osteoclastic-agent-denosumab-for-a-giant-cell-tumor-of-the-bone-with-concurrent-paget-s-disease-a-case-report
#9
Takaaki Tanaka, John Slavin, Sue-Anne McLachlan, Peter Choong
Paget's disease of the bone may predispose the development of malignant bone tumors such as osteosarcoma. Giant cell tumor (GCT) as a consequence of Paget's disease is rare. Bone GCT is characterized by rapid growth, the destruction of bone, extension to the surrounding soft tissue and abnormal bone turnover caused by an abnormality of the receptor activator of nuclear factor-κB (RANK)-RANK ligand (RANKL) pathway. Denosumab is a RANK-RANKL inhibitor, which is used to treat osteoporosis and bone GCT. In the current study, a 60-year-old male presented with severe pain located between the right thigh and the knee...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28430378/treating-paget-s-disease-why-and-how-much
#10
Tim Cundy
Paget's disease (PDB) is a benign chronic focal disorder of older people. Affected bones have greatly accelerated bone turnover, a chaotic structure and are highly vascular. People with PDB are commonly asymtomatic but can also suffer chronic bone pain. Affected bones may become enlarged and deformed; and they are also liable to fracture. This article is protected by copyright. All rights reserved.
April 21, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28406527/modified-weekly-regimen-of-cisplatin-epirubicin-and-paclitaxel-induced-a-durable-response-in-two-cases-of-metastatic-extramammary-paget-s-disease
#11
Ikuko Hirai, Takeru Funakoshi
Metastatic extramammary Paget's disease (EMPD) is a rare cancer with no standardized treatment. We report two cases of metastatic EMPD treated with a modified weekly PET (cisplatin, epirubicin and paclitaxel) regimen given biweekly (i.e. 2 weeks on/2 weeks off) that had durable responses. Case 1 was a 74-year-old man with EMPD metastatic to lymph nodes, lung, and bone who presented with a hemorrhagic tumor on the scrotum. We tried the PET regimen weekly, but adjusted the interval to biweekly after two doses because of hematological side-effects...
April 13, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28396816/psma-pet-ct-positive-paget-disease-in-a-patient-with-newly-diagnosed-prostate-cancer-imaging-and-bone-biopsy-findings
#12
Michael Froehner, Marieta Toma, Klaus Zöphel, Vladimir Novotny, Michael Laniado, Manfred P Wirth
A 67-year-old man diagnosed with Gleason score 4 + 5 = 9 clinically localized prostate cancer with (68)Ga-labeled prostate-specific membrane antigen-targeted ligand positron emission tomography/computed tomography (PSMA-PET/CT) positive Paget bone disease is described. Immunohistochemical staining revealed weak PSMA positivity of the bone lesion supporting the hypothesis that neovasculature might explain positive PSMA-PET/CT findings in Paget disease.
2017: Case Reports in Urology
https://www.readbyqxmd.com/read/28389692/familial-early-onset-paget-s-disease-of-bone-associated-with-a-novel-hnrnpa2b1-mutation
#13
Xuan Qi, Qianqian Pang, Jiawei Wang, Zhen Zhao, Ou Wang, Lijun Xu, Jiangfeng Mao, Yan Jiang, Mei Li, Xiaoping Xing, Wei Yu, Asan, Weibo Xia
Paget disease of bone (PDB) is a common metabolic bone disease characterized by increased bone resorption and disorganized bone formation which affect single or multiple sites of bones. Although the exact cause of PDB is still controversial, genetic factors are considered to play an important role in PDB. Several genes involved in the differentiation or function of osteoclast were shown to be associated with PDB or related syndrome such as SQSTM1, TNFRSF11A, TNFRSF11B, and ZNF687. Multisystem proteinopathy (MSP), a newly proposed syndrome including inclusion body myopathy (IBM), PDB, frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), is mainly caused by mutation in VCP gene...
April 7, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28361207/antibody-response-to-paramyxoviruses-in-paget-s-disease-of-bone
#14
Micaela Rios Visconti, Ricardo Usategui-Martín, Stuart H Ralston
Paget's disease of bone (PDB) is a common skeletal disorder characterised by focal abnormalities of increased and disorganised bone turnover. Genetic factors play a central role in the pathogenesis of PDB but environmental factors also contribute. Measles virus (MV), respiratory syncytial virus (RSV) and canine distemper virus (CDV) have all been implicated as potential disease triggers but the data are conflicting. Since chronic paramyxovirus infection with measles is known to be accompanied by increased production of antiviral antibodies, we have analysed circulating concentrations of antibodies to MV, CDV, and RSV as well as mumps, rubella and varicella zoster virus (VZV) in 463 patients with PDB and 220 aged and gender-matched controls...
March 31, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28358955/bilateral-ocular-pain-and-hyperemia-in-a-patient-with-paget-disease-of-the-bone
#15
Ali S Haider, Andrew M Burbidge, Anthony Dunlop
No abstract text is available yet for this article.
March 30, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28339664/adult-paget-s-disease-of-bone-a-review
#16
Stephen Paul Tuck, Robert Layfield, Julie Walker, Babitha Mekkayil, Roger Francis
Adult PD of bone is the second commonest metabolic bone condition after osteoporosis. The condition is characterized by increased bone cell activity, with bone-resorbing osteoclasts often larger and containing more nuclei than normal, and osteoblasts producing increased amounts of disorganized bone. This leads to expanded bone of poor quality possessing both sclerotic and lytic areas. PD of bone has a strong genetic element, with a family history being noted in 10-20% of cases. A number of genetic defects have been found to be associated with the condition...
February 17, 2017: Rheumatology
https://www.readbyqxmd.com/read/28339363/proangiogenic-gene-polymorphisms-are-associated-with-susceptibility-to-paget-s-disease-of-bone-and-with-its-clinical-features
#17
Ismael Calero-Paniagua, Ricardo Usategui-Martín, Luís Corral-Gudino, Judit García-Aparicio, Javier Del Pino-Montes, Rogelio González-Sarmiento
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March 23, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28337806/the-pharmacological-profile-of-a-novel-highly-potent-bisphosphonate-ox14-1-fluoro-2-imidazo-1-2-%C3%AE-pyridin-3-yl-ethyl-bisphosphonate
#18
M A Lawson, F H Ebetino, A Mazur, A D Chantry, J Paton-Hough, H R Evans, D Lath, M K Tsoumpra, M W Lundy, R L M Dobson, M Quijano, A A Kwaasi, J E Dunford, X Duan, J T Triffitt, G Jeans, R G G Russell
Bisphosphonates are widely used in the treatment of clinical disorders characterized by increased bone resorption, including osteoporosis, Paget's disease and the skeletal complications of malignancy. The anti-resorptive potency of the nitrogen-containing bisphosphonates on bone in vivo is now recognised to depend upon two key properties, namely mineral binding affinity and inhibitory activity on farnesyl pyrophosphate synthase (FPPS), and these properties vary independently of each other in individual bisphosphonates...
March 24, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28324123/long-term-bone-scintigraphy-results-after-intravenous-zoledronate-in-paget-s-disease-of-bone
#19
Ian R Reid, Katherine Maslowski
Zoledronate produces long-term normalization of biochemical markers in Paget's disease but whether this implies the absence of active disease is unknown. We have determined whether bone scintigraphy, a more sensitive index of disease activity, is also normalized ≥5 years after treatment with zoledronate. A consecutive case series of 11 individuals with Paget's disease treated with zoledronate 5 mg ≥5 years previously is reported. Eight patients received a single zoledronate infusion and were assessed 55-120 months later...
March 21, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28303975/a-conserved-inter-domain-communication-mechanism-regulates-the-atpase-activity-of-the-aaa-protein-drg1
#20
Michael Prattes, Mathias Loibl, Gertrude Zisser, Daniel Luschnig, Lisa Kappel, Ingrid Rössler, Manuela Grassegger, Altijana Hromic, Elmar Krieger, Karl Gruber, Brigitte Pertschy, Helmut Bergler
AAA-ATPases fulfil essential roles in different cellular pathways and often act in form of hexameric complexes. Interaction with pathway-specific substrate and adaptor proteins recruits them to their targets and modulates their catalytic activity. This substrate dependent regulation of ATP hydrolysis in the AAA-domains is mediated by a non-catalytic N-terminal domain. The exact mechanisms that transmit the signal from the N-domain and coordinate the individual AAA-domains in the hexameric complex are still the topic of intensive research...
March 17, 2017: Scientific Reports
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