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https://www.readbyqxmd.com/read/28716575/strategic-targeting-of-multiple-bmp-receptors-prevents-trauma-induced-heterotopic-ossification
#1
Shailesh Agarwal, Shawn J Loder, Christopher Breuler, John Li, David Cholok, Cameron Brownley, Jonathan Peterson, Hsiao H Hsieh, James Drake, Kavitha Ranganathan, Yashar S Niknafs, Wenzhong Xiao, Shuli Li, Ravindra Kumar, Ronald Tompkins, Michael T Longaker, Thomas A Davis, Paul B Yu, Yuji Mishina, Benjamin Levi
Trauma-induced heterotopic ossification (tHO) is a condition of pathologic wound healing, defined by the progressive formation of ectopic bone in soft tissue following severe burns or trauma. Because previous studies have shown that genetic variants of HO, such as fibrodysplasia ossificans progressiva (FOP), are caused by hyperactivating mutations of the type I bone morphogenetic protein receptor (T1-BMPR) ACVR1/ALK2, studies evaluating therapies for HO have been directed primarily toward drugs for this specific receptor...
July 15, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28716551/application-of-human-induced-pluripotent-stem-cells-to-model-fibrodysplasia-ossificans-progressiva
#2
Emilie Barruet, Edward C Hsiao
Fibrodysplasia ossificans progressiva (FOP) is a genetic condition characterized by massive heterotopic ossification. FOP patients with mutations in the Activin A type I receptor (ACVR1), a bone morphogenetic protein (BMP) receptor. FOP is a progressive and debilitating disease characterized by bone formation flares that often occur after trauma. Since it is often difficult or impossible to obtain large amounts of tissue from human donors due to the risks of inciting more heterotopic bone formation, human induced pluripotent stem cells (hiPSCs) provide an attractive source for establishing in vitro disease models and for applications in drug screening...
July 14, 2017: Bone
https://www.readbyqxmd.com/read/28705683/periodontal-ligament-fibroblasts-as-a-cell-model-to-study-osteogenesis-and-osteoclastogenesis-in-fibrodysplasia-ossificans-progressiva
#3
Teun J de Vries, Ton Schoenmaker, Dimitra Micha, Jolanda Hogervorst, Siham Bouskla, Tim Forouzanfar, Gerard Pals, Coen Netelenbos, E Marelise W Eekhoff, Nathalie Bravenboer
Fibrodysplasia Ossificans Progressiva (FOP) is a progressive disease characterized by periods of heterotopic ossification of soft connective tissues, including ligaments. Though progress has been made in recent years in unraveling the underlying mechanism, patient-derived cell models are necessary to test potential treatment options. Periodontal ligament fibroblasts (PLF) from extracted teeth can be used to study deviant bone modeling processes in vitro since these cells are derived from genuine ligaments. They further provide a tool to study the hitherto unknown role of the bone morphogenesis protein receptor type 1 (BMPR-1) Activin A type 1 receptor ACVR1-R206H mutation in osteoclastogenesis...
July 10, 2017: Bone
https://www.readbyqxmd.com/read/28688556/pediatric-langerhans-cell-histiocytosis-of-the-lateral-skull-base
#4
Ananya Majumder, Cameron C Wick, Rebecca Collins, Timothy N Booth, Brandon Isaacson, J Walter Kutz
OBJECTIVE: Describe the presentation, imaging characteristics, management, and outcomes of pediatric patients with Langerhans cell histiocytosis (LCH) of the temporal bone. METHODS: A retrospective chart review was performed between 2000 and 2014 at a single tertiary care children's hospital. Fourteen patients were identified with a diagnosis of LCH and involvement of the temporal bone. RESULTS: Ten patients were female and ten were Caucasian...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28679511/traumatic-myositis-ossificans-circumscripta-moc
#5
Manel Landolsi, Tej Mrad
We report a case of a 29-year-old man who had been a victim of a public road accident. Four weeks later, the patient developed an isolated right thigh mass located ventrally in the distal one-third of the thigh. The mass was painful and associated with fever and inflammatory syndrome. Plain radiographs showed a bilateral calcified thickening of soft tissues with well-defined bony margins. Ultrasound objectified diffuse calcifications of soft tissues.CT scan-confirmed the diagnosis of myositis ossificans circumscripta, showing a bilateral thickening of the vastus intermedius chief of the quadriceps dotted with calcifications, extending along the femur axis...
July 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28666455/prevalence-of-fibrodysplasia-ossificans-progressiva-fop-in-france-an-estimate-based-on-a-record-linkage-of-two-national-databases
#6
Geneviève Baujat, Rémy Choquet, Stéphane Bouée, Viviane Jeanbat, Laurène Courouve, Amélie Ruel, Caroline Michot, Kim-Hanh Le Quan Sang, David Lapidus, Claude Messiaen, Paul Landais, Valérie Cormier-Daire
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies found that the FOP prevalence was about one in every two million lives. The aim of this study is to estimate the FOP prevalence in France by probabilistic record-linkage of 2 national databases: 1) the PMSI (Programme de médicalisation des systèmes d'information), an administrative database that records all hospitalization activities in France and 2) CEMARA, a registry database developed by the French Centres of Reference for Rare Diseases...
June 30, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28641932/myositis-ossificans-in-elbow-mimicking-soft-tissue-sarcoma-similar-clinical-and-radiological-findings
#7
Elena Espinosa Muñoz, Diego Ramírez Ocaña, Ana María Martín García, Carmen Puentes Zarzuela
No abstract text is available yet for this article.
June 19, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28629737/the-obligatory-role-of-activin-a-in-the-formation-of-heterotopic-bone-in-fibrodysplasia-ossificans-progressiva
#8
Dana M Alessi Wolken, Vincent Idone, Sarah J Hatsell, Paul B Yu, Aris N Economides
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder that presents at birth with only minor patterning defects, but manifests its debilitating pathology early in life with episodic, yet progressive and cumulative, heterotopic ossification (HO) of ligaments, tendons, and a subset of major skeletal muscles. The resulting HO lesions are endochondral in nature, and appear to be linked to inflammatory stimuli arising in association with known injuries, or from inflammation linked to normal tissue repair...
June 16, 2017: Bone
https://www.readbyqxmd.com/read/28627475/joint-specific-risk-of-impaired-function-in-fibrodysplasia-ossificans-progressiva-fop
#9
Robert J Pignolo, Blythe P Durbin-Johnson, David M Rocke, Frederick S Kaplan
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) causes progressive disability due to heterotopic ossification from episodic flare-ups. Using data from 500 FOP patients (representing 63% of all known patients world-wide), age- and joint-specific risks of new joint involvement were estimated using parametric and nonparametric statistical methods. RESULTS: Compared to data from a 1994 survey of 44 individuals with FOP, our current estimates of age- and joint-specific risks of new joint involvement are more accurate (narrower confidence limits), based on a wider range of ages, and have less bias due to its greater comprehensiveness (captures over three-fifths of the known FOP patients worldwide)...
June 13, 2017: Bone
https://www.readbyqxmd.com/read/28623757/heterotopic-mesenteric-and-abdominal-wall-ossification-two-case-reports-in-one-institution
#10
Cátia Ferreira, Carina Gomes, Ana Melo, Nádia Tenreiro, Bruno Pinto, Herculano Moreira, Artur Ribeiro, Paulo Avelar
INTRODUCTION: Heterotopic ossification occurs when bone develops in tissues which usually don't undergo ossification. Heterotopic mesenteric ossification, also known as intra-abdominal myositis ossificans, is a rare and benign form of ossification, usually related with previous abdominal surgery or trauma. PRESENTATION OF CASES: We report two cases of heterotopic ossification both after multiple abdominal surgeries, with intraoperative findings of mesenteric and abdominal wall ossification...
June 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28606101/international-physician-survey-on-management-of-fop-a-modified-delphi-study
#11
Maja Di Rocco, Genevieve Baujat, Marta Bertamino, Matthew Brown, Carmen L De Cunto, Patricia L R Delai, Elisabeth M W Eekhoff, Nobuhiko Haga, Edward Hsiao, Richard Keen, Rolf Morhart, Robert J Pignolo, Frederick S Kaplan
Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphogenetic protein (BMP) type I receptor. Presently, symptomatic management is possible, but no definitive treatments are available. Although extensive guidelines for symptomatic management are widely used, regional preferences exist. In order to understand if there was worldwide consensus among clinicians treating FOP patients, an expert panel of physicians directly involved in FOP patient care was convened...
June 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28600150/longitudinal-patient-reported-mobility-assessment-in-fibrodysplasia-ossificans-progressiva-fop
#12
Frederick S Kaplan, Mona Al Mukaddam, Robert J Pignolo
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling genetic disorder characterized by episodic soft tissue swelling (flare-ups) that leads to progressive heterotopic ossification and restricted joint mobility. METHODS: Here we present the first longitudinal patient-reported mobility assessment (PRMA) in FOP based on a simple evaluation tool. At initial presentation and follow-up (1-11year span; median: 6 year span), 64 patients (36 females; 28 males) with classic FOP completed a questionnaire designed to rapidly assess mobility at 15 sites (three axial; six upper limb, and six lower limb)...
June 6, 2017: Bone
https://www.readbyqxmd.com/read/28579631/fibrodysplasia-ossificans-progressiva-a-case-report
#13
Richard O Baidoo, Makafui S Dayie
Fibrodysplasia Ossificans Progressiva is a rare debilitating disorder of the musculoskeletal system affecting one in two million individuals. It is characterized by progressive extraskeletal ossification of soft tissues resulting in the original skeleton being encased in unyielding new bone leading to disability and ultimately death from cardiorespiratory failure. The present case brings to light the delays and potential pitfalls in diagnosis as a result of the rarity of the condition.
December 2016: Ghana Medical Journal
https://www.readbyqxmd.com/read/28549688/fibrodysplasia-ossificans-progressiva-the-patient-voice
#14
Ian L Cali, Laura Rossano
The following essays are the personal statements of two remarkable young individuals, Ian Cali and Laura Rossano, who candidly share their perspectives on living life with fibrodysplasia ossificans progressiva (FOP). These essays are excerpts from the opening comments that Ian and Laura delivered at The First and The Second International FOP Association Drug Development Forums in 2014 and 2016, respectively. We present these unedited essays in this special issue of BONE so that physicians, scientists, and researchers everywhere can glimpse the valiant challenges that envelop the lives of all individuals with FOP and can appreciate that diseases are not just biological processes but indelible human experiences...
May 23, 2017: Bone
https://www.readbyqxmd.com/read/28536749/extraskeletal-osteosarcoma-arising-in-myositis-ossificans-a-case-report-and-review-of-the-literature
#15
Deepika Savant, Shachar Kenan, Samuel Kenan, Leonard Kahn
We report a case of a 23-year-old female with pain and fullness in the right popliteal fossa. An MRI scan demonstrated an ossified enhancing soft tissue mass. Evaluation of the resected specimen showed a high-grade extraskeletal osteosarcoma juxtaposed to the three zones of myositis ossificans. At 1-year follow-up the patient is alive and disease free. A review of the literature purporting to document such an association failed to demonstrate a single case in which an osteosarcoma and MO with its zonal architecture co-existed...
August 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28527295/periostitis-ossificans-arising-in-the-mandibular-bone-of-a-young-patient-report-of-an-unusual-case-and-review-of-the-literature
#16
Masakatsu Fukuda, Katsuyuki Inoue, Hideaki Sakashita
Periostitis ossificans, also known as Garré osteomyelitis, is a specific type of chronic osteomyelitis that forms new bone under the periosteum resulting from a periosteal reaction to chronic inflammation or infections. It commonly affects the mandible secondary to odontogenic infection. The therapeutic approach involves eliminating the infectious cause and antibiotic administration. This report describes an unusual case of periostitis ossificans arising from the mandible of an 11-year-old boy. The cause of infection was correlated with a lower right unerupted third molar, which had no obvious connection with the oral cavity...
April 26, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28484423/evaluation-of-salivary-cytokines-for-diagnosis-of-both-trauma-induced-and-genetic-heterotopic-ossification
#17
Hsiao Hsin Sung Hsieh, Michael T Chung, Ronald M Allen, Kavitha Ranganathan, Joe Habbouche, David Cholok, Jonathan Butts, Arminder Kaura, Ramkumar Tiruvannamalai-Annamalai, Chris Breuler, Caitlin Priest, Shawn J Loder, John Li, Shuli Li, Jan Stegemann, Steven L Kunkel, Benjamin Levi
PURPOSE: Heterotopic ossification (HO) occurs in the setting of persistent systemic inflammation. The identification of reliable biomarkers can serve as an early diagnostic tool for HO, especially given the current lack of effective treatment strategies. Although serum biomarkers have great utility, they can be inappropriate or ineffective in traumatic acute injuries and in patients with fibrodysplasia ossificans progressiva (FOP). Therefore, the goal of this study is to profile the cytokines associated with HO using a different non-invasive source of biomarkers...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28473268/the-congenital-great-toe-malformation-of-fibrodysplasia-ossificans-progressiva-a-close-call
#18
O Will Towler, Eileen M Shore, Meiqi Xu, Abbey Bamford, Ilse Anderson, Robert J Pignolo, Frederick S Kaplan
BACKGROUND: Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is a classic diagnostic feature of fibrodysplasia ossificans progressiva (FOP), a human genetic disease of extra-skeletal bone formation caused in nearly all cases by a gain-of-function mutation in Activin A Receptor I/Activin-like Kinase 2 (ACVR1/ALK2), which encodes a bone morphogenetic protein (BMP) Type 1 receptor. This toe malformation prompts the suspicion of FOP even before the appearance of extra-skeletal bone...
May 1, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28465250/a-cumulative-analogue-joint-involvement-scale-cajis-for-fibrodysplasia-ossificans-progressiva-fop
#19
Frederick S Kaplan, Mona Al Mukaddam, Robert J Pignolo
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is a catastrophic genetic disorder of progressive heterotopic ossification (HO). Assessment of functional mobility in FOP will be essential to support clinical trials of investigational agents. RESULTS: Of necessity, we developed a simple, rapidly-administered, cumulative analogue joint involvement scale (CAJIS) for FOP based on assessments in 144 individuals worldwide with classic FOP. CONCLUSIONS: CAJIS scores correlated with patient age, activities of daily living, and ambulatory function with excellent inter-rater variability...
April 29, 2017: Bone
https://www.readbyqxmd.com/read/28423433/-myositis-ossificans-traumatica-in-the-craniocervical-junction-a-case-report-and-review-of-literature
#20
Andreas Reinke, Michael Kraus, Alexander Wild
Background Myosits ossificans (MO) is a rare but important differential diagnosis for a heterotrophic bony tumor in the muscles. It is often misdiagnosed as a malignant tumor. With a previous trauma the diagnosis is myositis ossificans traumatic (MOT). In most cases, it is benign and predominantly seen in the big muscles. But there can be malignant etiologies too. Case Description We report a rare case of MO in the muscle of the craniocervical junction. This 37-year-old woman had a riding accident years ago...
June 2017: Zeitschrift Für Orthopädie und Unfallchirurgie
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