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Paget's disease of bone

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https://www.readbyqxmd.com/read/29145829/effect-of-a-rare-genetic-variant-of-tm7sf4-gene-on-osteoclasts-of-patients-with-paget-s-disease-of-bone
#1
Emilie Laurier, Nathalie Amiable, Edith Gagnon, Jacques P Brown, Laëtitia Michou
BACKGROUND: Dendritic Cell-Specific Transmembrane Protein (DC-STAMP) is involved in osteoclastogenesis with a key role in mononucleated osteoclasts fusion. We reported in patients with Paget's disease of bone (PDB) a rare variant (rs62620995) in the TM7SF4 gene, encoding for DC-STAMP, which changes a highly conserved amino acid, possibly damaging according to in silico predictions. This study aimed at determining the functional effects of this variant on osteoclast phenotype in PDB. METHODS: Fifty ml of peripheral blood were collected in pagetic patients carrier of this variant (n = 4) or not (n = 4) and healthy controls (n = 4)...
November 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29131108/genetic-and-pathological-assessment-of-hnrnpa1-hnrnpa2-b1-and-hnrnpa3-in-familial-and-sporadic-amyotrophic-lateral-sclerosis
#2
Jennifer A Fifita, Katharine Y Zhang, Jasmin Galper, Kelly L Williams, Emily P McCann, Alison L Hogan, Neil Saunders, Denis Bauer, Ingrid S Tarr, Roger Pamphlett, Garth A Nicholson, Dominic Rowe, Shu Yang, Ian P Blair
BACKGROUND: Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Mutations were also described in the prion-like domain of hnRNPA1 in patients with classic ALS. Another hnRNP protein, hnRNPA3, has been found to be associated with the ALS/frontotemporal dementia protein C9orf72...
November 11, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29127544/a-brazilian-family-with-inclusion-body-myopathy-associated-with-paget-s-disease-of-bone-and-frontotemporal-dementia-linked-to-the-vcp-pgly97glu-mutation
#3
REVIEW
Samuel Katsuyuki Shinjo, Sueli Mieko Oba-Shinjo, Antonio Marcondes Lerario, Suely Kazue Nagahashi Marie
The objective of this study is to report a Brazilian patient and his family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD). A systematic review of the literature on the valosin-containing protein (VCP) mutation was also performed. The proband (patient) was initially treated as a case of possible refractory polymyositis with Paget's disease and later as an inclusion body myopathy. However, after admission to our service, and considering his personal and familial antecedents, whole exome sequencing was performed revealing valosin-containing protein (VCP) c...
November 10, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29098360/established-models-and-new-paradigms-for-hypoxia-driven-cancer-associated-bone-disease
#4
REVIEW
Thomas R Cox, Janine T Erler, Robin M H Rumney
The five-year survival rate for primary bone cancers is ~ 70% while almost all cases of secondary metastatic bone cancer are terminal. Hypoxia, the deficiency of oxygen which occurs as the rate of tumour growth exceeds the supply of vascularisation, is a key promoter of tumour progression. Hypoxia-driven effects in the primary tumour are wide ranging including changes in gene expression, dysregulation of signalling pathways, resistance to chemotherapy, neovascularisation, increased tumour cell proliferation and migration...
November 2, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29081061/zoledronic-acid-bevacizumab-and-dexamethasone-induced-apoptosis-mitochondrial-oxidative-stress-and-calcium-signaling-are-decreased-in-human-osteoblast-like-cell-line-by-selenium-treatment
#5
Tayfun Yazıcı, Gülperi Koçer, Mustafa Nazıroğlu, İshak Suat Övey, Ahmi Öz
Increased intracellular free calcium ion (Ca(2+)) concentration induces excessive oxidative stress and apoptosis. Medical procedures such as zoledronic acid (Zol), bevacizumab (Bev), and dexamethasone (Dex) are usually used in the treatment of bone diseases (osteoporosis, Paget's disease, etc.) and to prevent metastasis in the bone although the procedures induce osteonecrosis of the jaw through excessive production of reactive oxygen species (ROS). Recently, we observed regulator roles of selenium (Se) on apoptosis and Ca(2+) entry through transient receptor potential vanilloid 1 (TRPV1) channels in the cancer cell lines...
October 28, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/29080812/juvenile-paget-disease
#6
Stergios A Polyzos, Tim Cundy, Christos S Mantzoros
Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). Loss of OPG action causes generalized, extremely rapid bone turnover. The clinical manifestations are both skeletal - progressive skeletal deformity that develops in childhood - and extra-skeletal, including hearing loss, retinopathy, vascular calcification and internal carotid artery aneurysm formation. The severity of the phenotype seems to be related to the severity of TNFRSF11B gene deactivation...
October 25, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29037990/roles-for-the-vcp-co-factors-npl4-and-ufd1-in-neuronal-function-in-drosophila-melanogaster
#7
Dwayne J Byrne, Mark J Harmon, Jeremy C Simpson, Craig Blackstone, Niamh C O'Sullivan
The VCP-Ufd1-Npl4 complex regulates proteasomal processing within cells by delivering ubiquitinated proteins to the proteasome for degradation. Mutations in VCP are associated with two neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD), and extensive study has revealed crucial functions of VCP within neurons. By contrast, little is known about the functions of Npl4 or Ufd1 in vivo. Using neuronal-specific knockdown of Npl4 or Ufd1 in Drosophila melanogaster, we infer that Npl4 contributes to microtubule organization within developing motor neurons...
October 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28993189/effect-of-genetic-variants-of-optn-in-the-pathophysiology-of-paget-s-disease-of-bone
#8
Iris A L Silva, Natércia Conceição, Édith Gagnon, Helena Caiado, Jacques P Brown, Fernando Gianfrancesco, Laëtitia Michou, M Leonor Cancela
Paget's disease of bone (PDB) is the second most frequent metabolic bone disease after osteoporosis. Genetic factors play an important role in PDB, but to date PDB causing mutations were identified only in the Sequestosome 1 gene at the PDB3 locus. OPTN has been recently associated with PDB, however little is known about the effect of genetic variants in this gene in PDB pathophysiology. By sequencing OPTN in SQSTM1 non-carriers PDB patients we found 16 SNPs in regulatory, coding and non-coding regions. One of those was found to be associated with PDB in our cohort - rs2234968...
October 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28970065/valosin-containing-protein-vcp-is-a-novel-iq-motif-containing-gtpase-activating-protein-1-iqgap1-interacting-protein
#9
Norimichi Itoh, Taku Nagai, Takashi Watanabe, Kentaro Taki, Toshitaka Nabeshima, Kozo Kaibuchi, Kiyofumi Yamada
Scaffold proteins play a pivotal role in making protein complexes, and organize binding partners into a functional unit to enhance specific signaling pathways. IQ motif-containing GTPase activating protein 1 (IQGAP1) is an essential protein for spine formation due to its role in scaffolding multiple signal complexes. However, it remains unclear how IQGAP1 interacts within the brain. In the present study, we screened novel IQGAP1-interacting proteins by a proteomic approach. As a novel IQGAP1-interacting protein, we identified valosin-containing protein (VCP) which is a causative gene in patients with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD)...
December 2, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28969735/langerhans-cell-histiocytosis-involving-both-jaws-in-an-adult
#10
Hira Salam, Ruqaiya Shahid, Talat Mirza
Langerhans cell histiocytosis (LCH) is the latest terminology for a disorder of reticulo-endothelial system, previously known as histiocytosis X, and marked by aberrant proliferation of bone marrow derived Langerhans cells with variable inflammatory infiltrate including neutrophils, lymphocytes, plasma cells, eosinophils, and multinucleated giant cells. Although rare, the disorder frequently inflicts children with peak incidence recorded in 2-4 years age group. LCH is rare in adults. A22-year adult male presented with the complaint of teeth mobility...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28968976/the-distinct-clinical-features-of-giant-cell-tumor-of-bone-in-pagetic-and-non-pagetic-patients-are-associated-with-genetic-biochemical-and-histological-differences
#11
Giuseppina Divisato, Federica Scotto di Carlo, Laura Pazzaglia, Riccardo Rizzo, Domenico A Coviello, Maria Serena Benassi, Piero Picci, Teresa Esposito, Fernando Gianfrancesco
Giant Cell Tumor of Bone (GCT) is a tumor characterized by neoplastic mesenchymal stromal cells and a high number of osteoclast-like multinucleated giant cells. Rarely, GCT could arise in bones affected by Paget's disease of bone (GCT/PDB). Although it is already known that GCT/PDB and GCT show a different clinical profile regarding the age-onset and skeletal localization, our deep clinical comparison between the two GCT/PDB and GCT cohorts, permitted us to identify additional differences (e.g. focality, ALP serum levels, the 5-year survival rate and the familial recurrence), strongly suggesting a different molecular basis...
September 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28967630/determinants-of-quality-of-life-in-paget-s-disease-of-bone
#12
Gláucio Ricardo Werner de Castro, Silvania Ana Fernandes de Castro, Ivanio Alves Pereira, Adriana Fontes Zimmermann, Maria Amazile Toscano, Fabricio Souza Neves, Maria Aparecida Scottini, Juliane Paupitz, Julia Salvan da Rosa, Ziliani Buss, Tânia Silvia Fröde
OBJECTIVE: To evaluate the parameters associated with quality of life in patients with Paget's disease of bone. METHODS: Patients with Paget's disease of bone were evaluated with SF-36 and WHOQOL-bref questionnaires. Patients with other diseases that could cause significant impairment of their quality of life were excluded. We searched for correlations between the results and: age, time from diagnosis, type of involvement, pain related to Paget's disease of bone, limitation to daily activities, deformities, bone specific alkaline phosphatase, the extent of involvement and treatment...
September 26, 2017: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/28965204/dental-manifestations-of-pediatric-bone-disorders
#13
REVIEW
Juan F Yepes
PURPOSE OF REVIEW: Several bone disorders affecting the skeleton often are manifest in the maxillofacial region. This review presents the most common bone disorders in children and their dental-oral manifestations: fibrous dysplasia, Paget's disease, osteogenesis imperfecta, renal osteodystrophy, hypophosphatasia, and osteoporosis. The specific intraoral characteristics will reviewed in detail. RECENT FINDINGS: Recent studies confirmed the close relationship between the mandible and the maxilla with the most prevalent systemic bone disorders in children...
September 30, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28891874/reply-to-letter-to-the-editor-paget-s-disease-of-the-temporal-bone-a-single-institution-contemporary-review-of-27-patients
#14
Nicholas L Deep, Jake G Besch-Stokes, John I Lane, Colin L W Driscoll, Matthew L Carlson
No abstract text is available yet for this article.
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28891870/letter-to-the-editor-regarding-deep-n-besch-stokes-j-lane-j-driscoll-c-carlson-m-paget-s-disease-of-the-temporal-bone-a-single-institution-contemporary-review-of-27-patients
#15
https://www.readbyqxmd.com/read/28884211/the-changing-presentation-of-paget-s-disease-of-bone-in-australia-a-high-prevalence-region
#16
Cameron Britton, Suzanne Brown, Lynley Ward, Sarah L Rea, Thomas Ratajczak, John P Walsh
Studies from several countries suggest that the incidence of Paget's disease of bone (PDB) and the severity of newly diagnosed cases are declining. The aim of this study was to examine secular changes in clinical presentation of PDB in Australia, which historically had the highest prevalence outside the United Kingdom. The participants were 293 patients (61% male) diagnosed between 1956 and 2013 with details recorded in the database of the Paget's Disease Research Group of Western Australia. The mean age at diagnosis was 62 years (range 28-90); 26% of participants had a family history of PDB and 11% had Sequestosome 1 (SQSTM1) mutations...
December 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28875143/a-case-of-bisphosphonate-related-osteonecrosis-of-the-jaw-with-a-particularly-unfavourable-course-a-case-report
#17
Massimo Viviano, Alessandra Addamo, Serena Cocca
Bisphosphonates are drugs used to treat osteoclast-mediated bone resorption, including osteoporosis, Paget disease, multiple myeloma, cancer-related osteolysis, and malignant hypercalcemia. The use of these drugs has increased in recent years as have their complications, especially bisphosphonate-related osteonecrosis of the jaw (BRONJ), which more frequently affects the mandible. Here we report a case of BRONJ with a particularly unfavorable course due to cervical inflammation that developed into necrotizing fasciitis, followed by multiorgan involvement leading to septic shock and death...
August 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/28860326/coexistence-of-multiple-myeloma-and-paget-disease-of-bone
#18
Maryam Pourabdollah, Hong Chang
No abstract text is available yet for this article.
August 31, 2017: Blood
https://www.readbyqxmd.com/read/28840181/measles-virus-nucleocapsid-protein-modulates-the-signal-regulatory-protein-%C3%AE-1-sirp%C3%AE-1-to-enhance-osteoclast-differentiation-in-paget-s-disease-of-bone
#19
Kumaran Sundaram, Yuvaraj Sambandam, Srinivasan Shanmugarajan, D Sudhaker Rao, Sakamuri V Reddy
Paget's disease of bone (PDB) is a chronic localized bone disorder in an elderly population. Environmental factors such as paramyxovirus are implicated in PDB and measles virus nucleocapsid protein (MVNP) has been shown to induce pagetic osteoclasts (OCLs). However, the molecular mechanisms underlying MVNP stimulation of OCL differentiation in the PDB are unclear. We therefore determined the MVNP regulated gene expression profiling during OCL differentiation. Agilent microarray analysis of gene expression identified high levels of SIRPβ1 (353-fold) expression in MVNP transduced human bone marrow mononuclear cells stimulated with RANKL...
December 2017: Bone Reports
https://www.readbyqxmd.com/read/28819613/aseptic-loosening-after-total-hip-arthroplasty-in-an-acromegalic-patient-a-case-report
#20
Simon Koulischer, Bilal Kapanci, Nicolas Bloemers, Tatiana Charles, Marc Jayankura
INTRODUCTION: Acromegaly is a rare disorder characterized by excess secretion of growth hormone and its principle mediator, insulin-like growth factor-1. Although acromegaly is frequently associated with osteoarthritis, the outcome of arthroplasty in this population is not documented. CASE REPORT: We report here a case of aseptic loosening of an uncemented total hip arthroplasty acetabulum in an acromegalic patient that was revised with a cemented cup. It has been suggested that the incidence of this complication is increased in other pathology with a similarly high bone-turnover (e...
March 2017: Journal of Orthopaedic Case Reports
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