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Paget's disease of bone

Iris A L Silva, Natércia Conceição, Édith Gagnon, Jacques P Brown, M Leonor Cancela, Laëtitia Michou
Paget's disease of bone (PDB) is a chronic bone disorder and although genetic factors appear to play an important role in its pathogenesis, to date PDB causing mutations were identified only in the Sequestosome 1 (SQSTM1) gene at the PDB3 locus. PDB6 locus, also previously linked to PDB, contains several candidate genes for metabolic bone diseases. We focused our analysis in the most significantly associated variant with PDB, within the Optineurin (OPTN) gene, i.e. the common variant rs1561570. Although it was previously shown to be strongly associated with PDB in several populations, its contribution to PDB pathogenesis remains unclear...
2018: PloS One
Inga-Marie Schaefer, Jonathan A Fletcher, G Petur Nielsen, Angela R Shih, Marco L Ferrone, Jason L Hornick, Xiaohua Qian
BACKGROUND: Diagnosing giant cell-rich bone tumors can be challenging on limited biopsies. H3 histone family member 3A (H3F3A) (G34W/V/R/L) mutations are present in the majority of giant cell tumors (GCTs) of bone and H3 histone family member 3B (H3F3B) (K36M) mutations are present in nearly all chondroblastomas, but are absent in histologic mimics. Mutation-specific immunohistochemistry (IHC) is highly specific for GCT and chondroblastoma in surgical excisions. The objective of the current study was to validate H3G34W and H3K36M IHC in the diagnosis of giant cell-rich bone tumors on fine-needle aspiration and core needle biopsy specimens...
May 14, 2018: Cancer Cytopathology
Sejad Al-Tahan, Ebaa Al-Obeidi, Hiroshi Yoshioka, Anita Lakatos, Lan Weiss, Marjorie Grafe, Johanna Palmio, Matt Wicklund, Yadollah Harati, Molly Omizo, Bjarne Udd, Virginia Kimonis
Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). We report the clinical, histological, and molecular findings in four new patients/families carrying novel VCP mutations: c.474 G > A (p.M158I); c.478 G > C (p...
April 17, 2018: Neuromuscular Disorders: NMD
Igor Kravets
Paget's disease of bone is a common bone disorder characterized by disorganized bone remodeling. The most likely etiology is a slow paramyxoviral viral infection in genetically susceptible individuals, however the exact cause is unknown. Enhanced bone resorption due to and increased activity of osteoclasts recruits numerous osteoblasts to resorption sites with large quantities of new bone matrix produced as a result. The accelerated bone resorption and formation are not as closely coupled as in a healthy bone; a disorganized bone tissue is formed...
May 9, 2018: American Journal of Medicine
Martin G Campolongo, Marco Cabras, Luca Bava, Paolo G Arduino, Mario Carbone
OBJECTIVE: To present a case of early diagnosis mandibular Paget's disease of bone (PDB), recognised by a general dentist. BACKGROUND: PDB is responsible of rapid bone resorption and disorganised bone formation. MATERIALS AND METHODS: The patient was a 72-year-old female patient complaining of dental malposition and blatant prognathism. CONCLUSION: Clinicians should consider PDB in differential diagnosis for an elderly patient undergoing unexplained alteration in face profile and occlusion...
June 2018: Gerodontology
Myriame Bou Antoun, Salim Kemel, Marc Polivka, Damien Bresson, Jean-Denis Laredo
Osteoporosis circumscripta is sometimes observed at the skull vault and corresponds to the initial stage of Paget's disease of the bone. Differentiating osteoporosis circumscripta from other reasons for osteolytic images of the vault may be difficult. We report a case of osteoporosis circumscripta of the frontal bone. A lucent rim seen on CT scan, which was enhanced on gadolinium-enhanced MRI, delineated the abnormal bone. The patient was a 50-year-old woman who had CT scans of the skull for chronic sinusitis...
May 5, 2018: Skeletal Radiology
Domenico Rendina, Gianpaolo De Filippo, Loredana Postiglione, Bianca Covelli, Margherita Ricciardone, Séverine Guillaume, Gaetano Di Spigna, Carmine Selleri, Daniela Merlotti, Simone Bianciardi, Maria Materozzi, Riccardo Muscariello, Francesca De Pascale, Lanfranco D'Elia, Ranuccio Nuti, Pasquale Strazzullo, Luigi Gennari
The interleukin (IL)-6 biological system plays a key role in the pathogenesis of Paget's disease of bone (PD) and pathological bone pain. Bone pain, particularly in the lower back region, is the most frequent symptom in patients with PD. This case-control study aimed to evaluate the relationship between the IL-6 system and low back pain (LBP) in patients with PD. We evaluated 85 patients with PD, with the disease localized in the lumbar spine, pelvis, and/or sacrum, and classified them based on the presence or absence of LBP, before and after aminobisphosphonate treatment...
April 23, 2018: Pain
Karolina Slowicka, Geert van Loo
Optineurin (OPTN) was identified 20 years ago in a yeast-two-hybrid screen with a viral protein known to inhibit the cytolytic effects of tumor necrosis factor. Since then, OPTN has been identified as a ubiquitin-binding protein involved in many signaling pathways and cellular processes, and mutations in the OPTN gene have been associated with glaucoma, Paget's disease of bone and neurodegenerative pathologies. Its role in autophagy, however, has attracted most attention in recent years and may explain (some of) the mechanisms behind the disease-associated mutations of OPTN...
2018: Frontiers in Immunology
Krzysztof Kanecki, Aneta Nitsch-Osuch, Paweł Goryński, Magdalena Bogdan, Patryk Tarka, Piotr Zbigniew Tyszko
INTRODUCTION: Paget's disease (PDB) is a focal disorder of bone remodeling that occurs commonly in older people with decreasing prevalence reported in European countries. This disease is most often asymptomatic, but it can cause a variety of medical complications resulting in considerable morbidity and reduced quality of life. There is little information regarding the epidemiology of PDB in Poland. To the best of the authors' knowledge, this is the first large epidemiological analysis of this disease in Poland...
March 14, 2018: Annals of Agricultural and Environmental Medicine: AAEM
Long Guo, Nursel H Elcioglu, Ozge K Karalar, Mert O Topkar, Zheng Wang, Yuma Sakamoto, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa
Dysosteosclerosis (DOS) is a form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. Its mode of inheritance is autosomal recessive. SLC29A3 mutations have been reported as the causal gene in two DOS families, however, genetic heterogeneity has been suggested. By whole-exome sequencing in a Turkish patient with DOS, we found a novel splice-site mutation in TNFRSF11A. TNFRSF11A mutations have previously been reported in two autosomal dominant diseases (osteolysis, familial expansile and Paget disease of bone 2, early-onset) and an autosomal recessive disease (osteopetrosis, autosomal recessive 7)...
March 22, 2018: Journal of Human Genetics
Frank Zach, Franziska Polzer, Alexandra Mueller, André Gessner
The sequestosome 1 gene encodes the p62 protein and is the major genetic risk factor associated with Paget's disease of bone. In 2004, p62 was reported to up-regulate osteoclast differentiation by activating the transcription factors Nfatc1 and NF-κB. Here, we characterized the osteoclastogenic potential of murine p62-/- -derived cells compared with WT cells. Our data confirmed previous findings indicating that that p62 is induced during murine osteoclast differentiation. Surprisingly, an indispensable role for p62 in i n vitro osteoclast differentiation was not reproducible, since p62-deficient osteoclasts exhibited robust activation of Nfatc1, NF-κB, and osteoclast marker enzymes...
March 19, 2018: Journal of Biological Chemistry
Paul Glendenning, S A Paul Chubb, Samuel Vasikaran
Bone turnover marker (BTMs) concentrations in blood and urine reflect bone-remodelling activity, and may be useful adjuncts in the diagnosis and management of metabolic bone diseases. Newer biomarkers, mainly bone regulatory proteins, are currently being investigated to elucidate their role in bone metabolism and disease and may in future be useful in clinical diagnosis and management of metabolic bone disease. BTM concentrations increase around menopause in women, and at a population level the degree of increase in BTMs reflect bone loss...
June 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
E N Gonc, A Ozon, G Buyukyilmaz, A Alikasifoglu, O P Simsek, N Kandemir
Juvenile Paget's disease (JPD) is a rare autosomal recessive osteopathy. There is still a question about the most effective treatment modality in long-term prognosis. A 9-month-old boy who suffered from bone pain and deformities with a very high alkaline phosphatase level was diagnosed as JPD by radiographic findings. Genetic analysis showed a homozygous large deletion in TNFRSF11B gene encoding osteoprotegerin. Clinical improvement was observed with intravenous pamidronate therapy. However, the effect of drug reduced in time so the annual dose per kilogram body weight was increased after 2 years...
March 3, 2018: Osteoporosis International
Chiara Rossetti, Lidia Pasquinelli, Andrea Verzeletti, Giuseppe Armocida, Marta Licata, Ezio Fulcheri
An excavation conducted in 2002 by the Lombardy Archaeological Heritage in the St. Giulio Church (Cassano Magnago-Northern Italy) revealed an adult skeleton with an important alteration of the left femur. The femur, longer than the contralateral, exhibited an expansion of the full diaphysis; the surface was coarsened and porous. In cross section, it appeared that almost all the cortical bone had been converted into cancellous bone. Macroscopic and radiological alterations are suggestive of the monostotic form of Paget's disease, a chronic disorder, characterized by focal areas of excessive osteoclastic bone resorption followed by a secondary increase in osteoblastic bone formation...
March 2018: International Journal of Paleopathology
G Divisato, F Scotto di Carlo, N Petrillo, T Esposito, F Gianfrancesco
Paget's disease of bone (PDB) is a skeletal disorder whose molecular basis is not fully elucidated. However, 10% of patients show a familial PDB and 35% of them carry mutations in the SQSTM1 gene. We recently reported a founder mutation (p.Pro937Arg) in the ZNF687 gene, underlying PDB complicated by giant cell tumor (GCT/PDB) and rarely occurring in PDB patients without neoplastic degeneration. Since 80% of Italian GCT/PDB patients derive from Avellino, we hypothesized that ZNF687 mutation rate was higher in this region than elsewhere...
June 2018: Clinical Genetics
Rajendra Kumar, Meena Kumar, Kavin Malhotra, Shreyaskumar Patel
PURPOSE OF REVIEW: Osteosarcoma is mostly seen in bones of children and young adults. When it occurs in older persons, the tumor is considered secondary usually complicating Paget disease or irradiated bone. However, there is a second incidence peak of primary osteosarcoma later in life when these tumors occur de novo. This article describes the clinical, imaging, and treatment of POS in older patients, including demographic data of patients from our institution. FINDINGS: We present our experience with 920 cases of osteosarcoma that were seen between 1984 and 2003 at the University of Texas MD Anderson Cancer Center in Houston, TX, USA...
February 28, 2018: Current Oncology Reports
Lihong Fan, Shutao Yin, Enxiang Zhang, Hongbo Hu
p62 is a multifunctional adaptor protein implicated in various cellular processes. It has been found to regulate selective autophagy, cell survival, cell death, oxidative stress, DNA repair and inflammation, and to play a role in a number of diseases, such as tumourigenesis, Paget's disease of bone, neurodegenerative disease, diabetes, and obesity. Cell death induction is an important cellular process. The dysregulation of cell death induction is involved in the pathogenesis of various diseases, such as cancer, neurodegeneration diseases, and diabetes...
April 2018: Apoptosis: An International Journal on Programmed Cell Death
YouJin Lee, Per Harald Jonson, Jaakko Sarparanta, Johanna Palmio, Mohona Sarkar, Anna Vihola, Anni Evilä, Tiina Suominen, Sini Penttilä, Marco Savarese, Mridul Johari, Marie-Christine Minot, David Hilton-Jones, Paul Maddison, Patrick Chinnery, Jens Reimann, Cornelia Kornblum, Torsten Kraya, Stephan Zierz, Carolyn Sue, Hans Goebel, Asim Azfer, Stuart H Ralston, Peter Hackman, Robert C Bucelli, J Paul Taylor, Conrad C Weihl, Bjarne Udd
Multisystem proteinopathy (MSP) involves disturbances of stress granule (SG) dynamics and autophagic protein degradation that underlie the pathogenesis of a spectrum of degenerative diseases that affect muscle, brain, and bone. Specifically, identical mutations in the autophagic adaptor SQSTM1 can cause varied penetrance of 4 distinct phenotypes: amyotrophic lateral sclerosis (ALS), frontotemporal dementia, Paget's disease of the bone, and distal myopathy. It has been hypothesized that clinical pleiotropy relates to additional genetic determinants, but thus far, evidence has been lacking...
March 1, 2018: Journal of Clinical Investigation
Rachel Kama, Galina Gabriely, Vydehi Kanneganti, Jeffrey E Gerst
Cdc48/p97 and the ubiquilin family of UBA-UBL proteins are known for their role in the retrotranslocation of damaged proteins from the endoplasmic reticulum. We demonstrate that Cdc48 and the ubiquilin-like proteins in yeast also play a role in the anterograde trafficking of proteins, in this case the vacuolar protease, Cps1.
April 15, 2018: Molecular Biology of the Cell
Bing Q Chiu, Edmund Tsui, Syed Amal Hussnain, Irene A Barbazetto, R Theodore Smith
PURPOSE: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. METHODS: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. RESULTS: Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks...
February 13, 2018: Retinal Cases & Brief Reports
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