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Paget's disease of bone

Paul Glendenning, S A Paul Chubb, Samuel Vasikaran
Bone turnover marker (BTM's) 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 BTM's reflect bone loss...
March 12, 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 S di Carlo, N Petrillo, T Esposito, F Gianfrancesco
Paget's disease of bone (PDB) is a skeletal disorder whose molecular basis are 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...
March 1, 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...
February 26, 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...
February 19, 2018: Journal of Clinical Investigation
Rachel Kama, Galina Gabriely, Vydehi Kanneganti, Jeffrey E Gerst
Cdc48/p97 is known primarily for the retro-translocation of misfolded proteins in ER-associated protein degradation (ERAD). Here, we uncover a novel function for both Cdc48 and the conserved UBA-UBL ubiquitin receptor (ubiquilin) proteins in yeast ( e.g. Ddi1, Dsk2, Rad23), which deliver ubiquitinated proteins to the proteasome for degradation. We show that Cdc48, its core adaptors Npl4 and Ufd1, and the ubiquilins confer the constitutive anterograde delivery of carboxypeptidase S (Cps1), a membranal hydrolase, to the multivesicular body (MVB) and vacuolar lumen...
February 14, 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
Julien Paccou, Laetitia Michou, Sami Kolta, Françoise Debiais, Bernrard Cortet, Pascal Guggenbuhl
A finding of high bone mineral density (BMD) from routine dual-energy X-ray absorptiometry (DXA) screening is not uncommon. No consensus exists about the definition of high BMD, and T-score and/or Z-score cutoffs of ≥+2.5 or ≥+4 have been suggested. The many disorders that can result in high BMD are usually classified based on whether the BMD changes are focal vs. generalized or acquired vs. constitutional. In over half the cases, careful interpretation of the DXA report and images identifies the cause as an artefact (e...
January 30, 2018: Joint, Bone, Spine: Revue du Rhumatisme
Omar Abdulla, Mohammed Jawad Naqvi, Sameer Shamshuddin, Marwan Bukhari, Robin Proctor
No abstract text is available yet for this article.
February 1, 2018: Rheumatology
Koji Takada, Shinichiro Kashiwagi, Wataru Goto, Yuka Asano, Tamami Morisaki, Satoru Noda, Tsutomu Takashima, Naoyoshi Onoda, Masahiko Ohsawa, Kosei Hirakawa, Masaichi Ohira
Adenoma of the nipple is a rare benign tumor, and it is important to distinguish from Paget's disease or breast cancer. A 45- year-old woman had found induration under the right areola before 2 months and visited our hospital. Ultrasonography showed a 2.4 cm solid tumor in a cystic lesion, which had high blood flow in E area of the right mammary gland. The tumor suspected as duct papillomatosis by core needle biopsy. No metastasis lesion was found by computed tomography and bone scintigraphy. But magnetic resonance imaging showed as a marginally clear tumor with contrast enhanced findings that were relatively early reinforced and prolonged...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
Young-Kyun Lee, Hong Seok Kim, Hwan Seong Cho, Kyung-Hoi Koo
Atypical femoral fracture (AFF) has been widely issued since the American Society for Bone and Mineral Research (ASBMR) taskforce stated a possible association with long-term use of bisphosphonate in 2010. ASBMR taskforce recommended to include Paget's disease as one of variables to investigate the AFF in 2010. On the other hand, the ASBMR taskforce in 2014 excluded Paget's disease in the definition of AFF. Still, any rationale has been barely documented about this change. We described the rationale by reporting an 85-year-old man who had a subtrochanteric fracture with features of atypical femoral fracture which turned out to be Paget's disease of bone in the pathology...
September 2017: Clinical Cases in Mineral and Bone Metabolism
Tim Rolvien, Sebastian Butscheidt, Jozef Zustin, Michael Amling
PURPOSE: Paget's disease of bone (PDB) is a common skeletal disorder that is associated with locally increased bone turnover, skeletal deformity and pain. We report a case of skeletal dissemination in PDB of the spine. METHODS: Case report. RESULTS: A 46-year-old former professional athlete suffered from disseminated PDB throughout the spine and hips after various surgical interventions including spondylodesis, bone grafting and bone morphogenetic protein (rhBMP-2) administration...
January 17, 2018: European Spine Journal
Yu-Tzu Shih, Yi-Ping Hsueh
The endoplasmic reticulum (ER) is the biggest organelle in cells and is involved in versatile cellular processes. Formation and maintenance of ER morphology are regulated by a series of proteins controlling membrane fusion and curvature. At least six different ER morphology regulators have been demonstrated to be involved in neurological disorders-including Valosin-containing protein (VCP), Atlastin-1 (ATL1), Spastin (SPAST), Reticulon 2 (RTN2), Receptor expression enhancing protein 1 (REEP1) and RAB10-suggesting a critical role of ER formation in neuronal activity and function...
January 8, 2018: Journal of Biomedical Science
Moriharu Misaki, Osamu Hasegawa, Toshiaki Takeuchi
No abstract text is available yet for this article.
December 27, 2017: Internal Medicine
V Patel, J Mansi, S Ghosh, J Kwok, M Burke, D Reilly, N Nizarali, C Sproat, K Chia
Medication-related osteonecrosis of the jaw (MRONJ) has most commonly been associated with bisphosphonates. The routine uses of these drugs are now well established predominantly in metastatic cancer with bone involvement, multiple myeloma, hypercalcaemia, osteoporosis and Paget's disease. Recently, however, the use of bisphosphonates in early breast cancer has shown a reduction in breast cancer recurrence and breast cancer deaths. This new indication for their use approximates to a further 20,000 women per year in the UK being prescribed bisphosphonates...
December 15, 2017: British Dental Journal
Takefumi Kamakura, Joseph B Nadol
Bone remodeling within the otic capsule has been reported to be inhibited especially at or near the cochlea, except under some pathological conditions such as otosclerosis, Paget's disease, or mastoiditis, when bone remodeling can occur. Microcavitations found in periosteal and endosteal layers of human temporal bone specimens without otosclerosis, Paget's disease, or inflammation as reported in the current study are consistent with osteoclastic bone resorption. Thirty-three temporal bones from 33 patients were prepared for light microscopy and classified into 4 groups: histologically proven dehiscence of the superior semicircular canal (SSCD) (n = 3, group 1), age 20 years or younger (n = 10, group 2), age 90 years or older and with otosclerosis (n = 10, group 3), and age 90 years or older without otosclerosis (n = 10, group 4)...
December 9, 2017: Audiology & Neuro-otology
Luis Corral-Gudino, Adrian Jh Tan, Javier Del Pino-Montes, Stuart H Ralston
BACKGROUND: Bisphosphonates are considered to be the treatment of choice for people with Paget's disease of bone. However, the effects of bisphosphonates on patient-centred outcomes have not been extensively studied. There are insufficient data to determine whether reducing and maintaining biochemical markers of bone turnover to within the normal range improves quality of life and reduces the risk of complications. OBJECTIVES: To assess the benefits and harms of bisphosphonates for adult patients with Paget's disease of bone...
December 1, 2017: Cochrane Database of Systematic Reviews
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
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