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https://www.readbyqxmd.com/read/28449239/the-role-of-the-nuclear-envelope-protein-man1-in-mesenchymal-stem-cell-differentiation
#1
Sandra Bermeo, Ahmed Al-Saedi, Moustapha Kassem, Christopher Vidal, Gustavo Duque
Mutations in MAN1, a protein of the nuclear envelope, cause bone phenotypes characterized by hyperostosis. The mechanism of this pro-osteogenic phenotype remains unknown. We increased and decreased MAN1 expression in mesenchymal stem cells (MSC) upon which standard osteogenic and adipogenic differentiation were performed. MAN1 knockdown increased osteogenesis and mineralization. In contrast, osteogenesis remained stable upon MAN1 overexpression. Regarding a mechanism, we found that low levels of MAN1 facilitated the nuclear accumulation of regulatory smads and smads-related complexes, with a concurrently high expression of nuclear β-Catenin...
April 27, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28434888/melorheostosis-exome-sequencing-of-an-associated-dermatosis-implicates-postzygotic-mosaicism-of-mutated-kras
#2
Michael P Whyte, Malachi Griffith, Lee Trani, Steven Mumm, Gary S Gottesman, William H McAlister, Kilannin Krysiak, Robert Lesurf, Zachary L Skidmore, Katie M Campbell, Ilana S Rosman, Susan Bayliss, Vinieth N Bijanki, Angela Nenninger, Brian A Van Tine, Obi L Griffith, Elaine R Mardis
Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a representation of the pathogenetic process of MEL, overlie the bony changes, and sometimes MEL becomes malignant. Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3...
April 20, 2017: Bone
https://www.readbyqxmd.com/read/28431581/sacroiliitis-mimics-a-case-report-and-review-of-the-literature
#3
Maria J Antonelli, Marina Magrey
BACKGROUND: Radiographic sacroiliitis is the hallmark of ankylosing spondylitis (AS), and detection of acute sacroiliitis is pivotal for early diagnosis of AS. Although radiographic sacroiliitis is a distinguishing feature of AS, sacroiliitis can be seen in a variety of other disease entities. CASE PRESENTATION: We present an interesting case of sacroiliitis in a patient with Paget disease; the patient presented with inflammatory back pain which was treated with bisphosphonate...
April 22, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28412700/takayasu-arteritis-and-spondyloarthritis-coincidence-or-association-a-study-of-14-cases
#4
Elodie Rivière, Laurent Arnaud, Mikael Ebbo, Yannick Allanore, Pascal Claudepierre, Emmanuelle Dernis, Jean-Marc Ziza, Corinne Miceli-Richard, Peggy Philippe, Christophe Richez, Martin Soubrier, Rakiba Belkhir, Raphaèle Seror, Xavier Mariette, Stephan Pavy
OBJECTIVE: Spondyloarthritis (SpA) and Takayasu arteritis (TA) are 2 chronic inflammatory diseases; their coexistence in a single patient is uncommon. The aims of our study were to describe clinical features of patients having SpA associated with TA and to identify some characteristics of the types of patients with SpA associated with TA. We also analyzed treatments used in this context. METHODS: This French multicenter retrospective survey called for observations on behalf of the Club Rhumatismes et Inflammations, with a standardized questionnaire established by the investigators...
April 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28406001/disabling-osteopetrosis-in-an-young-lady
#5
Gouranga Santra, Shinjan Patra, Partha Pratim Chakraborty
Osteopetrosis is a rare disorder of osteoclastic bone resorption leading to hyperostosis. Albers-Schonberg disease, an autosomal dominant variant of osteopetrosis occurs in young adults and has a benign course. A 17 year old female presented with generalized weakness and pallor for last two months. She had insidious onset and gradually progressive loss of vision and hearing for last two years. Plain x-ray of skull revealed increased radio-opacity of skull bones specially in the base, severe under-pneumatization of frontal and sphenoidal sinuses...
December 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28403046/bacterial-osteomyelitis-or-nonbacterial-osteitis-in-children-a-study-involving-the-german-surveillance-unit-for-rare-diseases-in-childhood
#6
MULTICENTER STUDY
Veit Grote, Colen C G Silier, Agnes M Voit, Annette F Jansson
BACKGROUND: Although bacterial osteomyelitis (BO) is a commonly recognized diagnosis in pediatrics, it is often difficult to distinguish from nonbacterial osteitis (NBO). The goal of our study was to distinguish between the 2 disease entities and better define NBO. METHODS: Using the German Surveillance Unit for Rare Diseases in Childhood (Erhebungseinheit für Seltene Paediatrische Erkrankungen in Deutschland), this prospective study during a 5-year period captured 657 patients at first diagnosis of either BO (n = 378) or NBO (n = 279) while analyzing epidemiologic, clinical and radiologic data...
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28385821/diffuse-idiopathic-skeletal-hyperostosis-with-cervical-myelopathy
#7
Aria Nouri, Michael G Fehlings
No abstract text is available yet for this article.
March 13, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28371859/classification-criteria-for-diffuse-idiopathic-skeletal-hyperostosis-a-lack-of-consensus
#8
Jonneke S Kuperus, Erin E A de Gendt, F Cumhur Oner, Pim A de Jong, Stan C F M Buckens, Alie E van der Merwe, George J R Maat, Elizabeth A Regan, Donald L Resnick, Reuven Mader, Jorrit-Jan Verlaan
Objectives.: DISH is a condition characterized by flowing ossifications of the spine with or without ossifications of entheses elsewhere in the body. Studies on the prevalence and pathogenesis of DISH use a variety of partly overlapping combinations of classification criteria, making meaningful comparisons across the literature difficult. The aim of this study was to systematically summarize the available criteria to support the development of a more uniform set of diagnostic/classification criteria...
March 27, 2017: Rheumatology
https://www.readbyqxmd.com/read/28371491/imaging-findings-suggestive-of-axial-spondyloarthritis-in-diffuse-idiopathic-skeletal-hyperostosis
#9
Augustin Latourte, Stéphane Charlon, Adrien Etcheto, Antoine Feydy, Yannick Allanore, Maxime Dougados, Anna Molto
OBJECTIVE: 1) To describe the MRI findings in diffuse idiopathic skeletal hyperostosis (DISH) patients and 2) to assess the proportion of DISH patients whose MRI findings would fulfill the Assessment of SpondyloArthritis international Society (ASAS) criteria for a positive MRI of axial spondyloarthritis (axSpA). METHODS: This study involved all DISH patients who had a spine or sacroiliac joints (SIJ) MRI performed between January 2009 and December 2014. Sociodemographical and clinical data were collected...
March 28, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28369706/diffuse-idiopathic-skeletal-hyperostosis-dish-and-impaired-physical-function-the-rancho-bernardo-study
#10
Wendy B Katzman, Mei-Hua Huang, Donna Kritz-Silverstein, Elizabeth Barrett-Connor, Deborah M Kado
OBJECTIVES: Investigate associations of diffuse idiopathic skeletal hyperostosis (DISH) with self-reported and measured physical function in older adults. DESIGN: Cross-sectional analyses of data collected in 1992-96 from a longitudinal cohort. SETTING: Research clinic within a community. PARTICIPANTS: Community-dwelling men (n = 630) and women (n = 961), mean age 71.5 years (SD = 10.8), from the Rancho Bernardo Study...
March 29, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28364275/magnetic-resonance-imaging-in-diffuse-idiopathic-skeletal-hyperostosis-similarities-to-axial-spondyloarthritis
#11
Uri Arad, Ori Elkayam, Iris Eshed
Diffuse idiopathic skeletal hyperostosis (DISH) is a non-inflammatory condition that involves calcification and ossification of the spinal ligaments and entheses. While, characteristic magnetic resonance imaging (MRI) lesions of the spine in patients with axial spondyloarthritis, another enthesitis-related disease, have been described and defined, there is a paucity of information regarding the MRI findings in DISH. The aim of this study was to describe the MRI findings of patients with DISH. We collected computed tomography studies with findings characteristic of DISH and that also had corresponding and concurrent MRI studies of the spine...
March 31, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28363281/thoracic-spondylolisthesis-and-spinal-cord-compression-in-diffuse-idiopathic-skeletal-hyperostosis-a-case-report
#12
Yasutaka Takagi, Hiroshi Yamada, Hidehumi Ebara, Hiroyuki Hayashi, Takeshi Iwanaga, Kengo Shimozaki, Yoshiyuki Kitano, Kenji Kagechika, Hiroyuki Tsuchiya
BACKGROUND: Diffuse idiopathic skeletal hyperostosis has long been regarded as a benign asymptomatic clinical entity with an innocuous clinical course. Neurological complications are rare in diffuse idiopathic skeletal hyperostosis. However, if they do occur, the consequences are often significant enough to warrant major neurosurgical intervention. Neurological complications occur when the pathological process of ossification in diffuse idiopathic skeletal hyperostosis extends to other vertebral ligaments, causing ossification of the posterior longitudinal ligaments and/or ossification of the ligamentum flavum...
April 1, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28355107/pathology-of-aging-in-nod-scid-gamma-female-mice
#13
Sara F Santagostino, Rodolfo J Ricart Arbona, Melissa A Nashat, Julie R White, Sebastien Monette
In the past decade, NOD.Cg- Prkdc(scid) Il2rg(tm1Wjl)/SzJ (NSG, NOD scid gamma) mice have become a model of choice in several areas of biomedical research; however, comprehensive data on their spontaneous age-related pathology are not currently available in the literature. The prevalence of spontaneous morbidity affecting aged NSG female breeders enrolled in a parasitology study was documented with classification of neoplastic and non-neoplastic (inflammatory, metabolic, degenerative) lesions. Malignant mammary neoplasms were most commonly diagnosed, often accompanied by pulmonary metastases, while a low frequency of lymphoma and histiocytic sarcoma was documented...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28339360/critical-role-of-stir-mri-in-early-detection-of-post-streptococcal-periostitis-with-dysproteinaemia-goldbloom-s-syndrome
#14
Riccardo Papa, Alessandro Consolaro, Francesca Minoia, Roberta Caorsi, Gianmichele Magnano, Marco Gattorno, Angelo Ravelli, Paolo Picco
OBJECTIVES: In 1966, Goldbloom et al. described two children who developed a peculiar clinical picture characterized by intermittent daily bone pain in the lower limbs, fever spikes, increased acute phase reactants and dysproteinaemia. The syndrome occurred two weeks after a group A β-haemolytic streptococcus infection. So far, only a few cases have been reported in the medical literature in English. METHODS: We report two further cases of Goldbloom's syndrome with a review of the literature in English...
March 23, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28320544/-about-a-case-of-laryngeal-location-of-sapho
#15
L Vatin, E Jean, D Rivière, M Montava, A Giovanni, P Dessi, A Lagier
INTRODUCTION: Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) is a syndrome that combines dermatological, articular and osseous inflammatory manifestations. Bilateral laryngeal immobility relative to cricoarytenoid joint origin is very uncommon. This article presents a case of bilateral cricoarytenoid joint ankylosis in a SAPHO syndrome context. CASE REPORT: A 53-year-old patient presenting with a two year history of intermittent bouts of dyspnea. A SAPHO syndrome was discussed on repeated thoracic CT-scan...
March 17, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28314808/cervical-diffuse-idiopathic-skeletal-hyperostosis-dish-causing-oropharyngeal-dysphagia
#16
Nellowe Candelario, Kevin Bryan Lo, Mario Naranjo
Diffuse idiopathic skeletal hyperostosis (DISH) is a non-inflammatory condition characterised by calcification and ossification of the vertebral ligaments. It is most commonly seen to affect the thoracic and lumbar vertebrae and is usually seen among elderly men. The cause of this condition is unknown. Risk factors include male gender, obesity, diabetes and advancing age. The majority of these cases are found incidentally on imaging and patients are generally asymptomatic. Cervical DISH is less common than its thoracic and lumbar counterparts...
March 17, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28298382/diffuse-idiopathic-skeletal-hyperostosis-dish-an-unusual-cause-of-airway-obstruction
#17
Andrew Wesley Hoey, Keli Dusu, Simon Gane
No abstract text is available yet for this article.
March 15, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28289785/-incidental-findings-in-musculoskeletal-radiology
#18
F Wünnemann, C Rehnitz, M-A Weber
BACKGROUND: Increasing numbers of conventional X‑rays, computed tomography and magnetic resonance imaging in the inpatient, outpatient and scientific routine leads to an increasing number of incidental findings. The correct interpretation of these incidental findings with respect to the relevance and the evaluation concerning further work-up is an important task of radiologists. OBJECTIVE: Description of common incidental findings in musculoskeletal imaging and their clinical classification...
March 13, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28285293/infantile-cortical-hyperostosis-of-scapula-presenting-as-pseudoparalysis-in-an-infant
#19
Venkateswari Ramesh, Janani Sankar
No abstract text is available yet for this article.
February 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28283270/relationship-between-diffuse-idiopathic-skeletal-hyperostosis-abdominal-aortic-calcification-and-associated-metabolic-disorders-data-from-the-camargo-cohort
#20
Emilio Pariente-Rodrigo, Giusi Alessia Sgaramella, José Manuel Olmos-Martínez, Stefanie Francesca Pini-Valdivieso, Rosa Landeras-Alvaro, José Luis Hernández-Hernández
BACKGROUND AND OBJECTIVE: Diffuse idiopathic skeletal hyperostosis (DISH) and abdominal aortic calcification (AAC) are related to an increased cardiovascular risk. The aim of this study was to analyse a possible relationship between both entities and also the association between metabolic disorders and DISH. PATIENTS AND METHOD: Analytic cross-sectional study in a population-based cohort. DISH (with Resnick-Niwayama criteria) and AAC (with AAC-24 scale) were assessed on plain x-ray images...
March 7, 2017: Medicina Clínica
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