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https://www.readbyqxmd.com/read/27908413/trace-element-and-cytokine-concentrations-in-patients-with-fibrodysplasia-ossificans-progressiva-fop-a-case-control-study
#1
Laura Hildebrand, Timo Gaber, Peter Kühnen, Rolf Morhart, Heinz Unterbörsch, Lutz Schomburg, Petra Seemann
Fibrodysplasia Ossificans Progressiva (FOP) is a rare inherited disease characterized by progressive heterotopic ossification. Disease onset, severity and symptoms vary between FOP patients, as does the frequency and activity of so-called flare-ups, during which tendons, ligaments, muscle and soft tissue are replaced by bone. Traumata, infections or other stressors are known inducers of flare-ups, and the hormone Activin A may be involved in disease activity; however, reliable biomarkers for FOP activity are missing, and the basal trace element and inflammatory state of patients are unknown...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27887014/intra-abdominal-myositis-ossificans-in-an-asymptomatic-patient-during-closure-of-a-hartmann-s-colostomy
#2
Georgios Sahsamanis, Panagiotis Triantafylakis, Konstantinos Gkouzis, Konstantinos Katis, Georgios Dimitrakopoulos
Intra-abdominal myositis ossificans, also known as heterotopic mesenteric ossification, defines the formation of bone-like lesions inside the abdominal cavity. It is a rare medical condition, usually following abdominal surgery or trauma. A 55-year-old male presented for closure of a Hartmann's colostomy, created 6 months ago because of sigmoid adenocarcinoma. Intraoperative findings consisted of an elongated bone-like lesion attached on the peritoneum and protruding inside the abdominal cavity, while two more stiff calcified nodules were found in the mesocolon...
November 24, 2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27881824/two-tissue-resident-progenitor-lineages-drive-distinct-phenotypes-of-heterotopic-ossification
#3
Devaveena Dey, Jana Bagarova, Sarah J Hatsell, Kelli A Armstrong, Lily Huang, Joerg Ermann, Ashley J Vonner, Yue Shen, Agustin H Mohedas, Arthur Lee, Elisabeth M W Eekhoff, Annelies van Schie, Marie B Demay, Charles Keller, Amy J Wagers, Aris N Economides, Paul B Yu
Fibrodysplasia ossificans progressiva (FOP), a congenital heterotopic ossification (HO) syndrome caused by gain-of-function mutations of bone morphogenetic protein (BMP) type I receptor ACVR1, manifests with progressive ossification of skeletal muscles, tendons, ligaments, and joints. In this disease, HO can occur in discrete flares, often triggered by injury or inflammation, or may progress incrementally without identified triggers. Mice harboring an Acvr1(R206H) knock-in allele recapitulate the phenotypic spectrum of FOP, including injury-responsive intramuscular HO and spontaneous articular, tendon, and ligament ossification...
November 23, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27881797/deterioration-of-vestibular-cells-in-labyrinthitis
#4
Serdar Kaya, Patricia A Schachern, Vladimir Tsuprun, Michael M Paparella, Sebahattin Cureoglu
OBJECTIVE: To quantitatively assess the effect of serous labyrinthitis, suppurative labyrinthitis, and labyrinthitis ossificans on vestibular hair cells, dark cells, and transitional cells. METHODS: We examined human temporal bone specimens with serous labyrinthitis, suppurative labyrinthitis, and labyrinthitis ossificans, then compared them with age-matched control groups without labyrinthitis. We evaluated the density of type I and II vestibular hair cells, dark cells, and transitional cells in the peripheral sensorial organs...
November 22, 2016: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/27867996/towards-a-cure-for-fibrodysplasia-ossificans-progressiva
#5
EDITORIAL
Gonzalo Sanchez-Duffhues, David J J de Gorter, Peter Ten Dijke
No abstract text is available yet for this article.
October 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/27800117/myositis-ossificans-progressive-case-report
#6
Sofia Talbi, Nassira Aradoini, Iman El Mezouar, Fatima Ezzahra Abourazzak, Taoufik Harzy
Myositis ossificans progressiva (MOP) is an autosomal dominant disorder. There is a progressive ectopic ossification and skeletal malformation, mainly in the connective tissue of muscle. The diagnosis is based on the clinical findings and radiological demonstration of the skeletal malformations. A 38-year-old female patient was admitted to our department with progressive increase of the thigh. Results of laboratory studies were normal. The radiography of the right thigh showed multiple intramuscular calcifications...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27794120/bmp-smad-id-promotes-reprogramming-to-pluripotency-by-inhibiting-p16-ink4a-dependent-senescence
#7
Yohei Hayashi, Edward C Hsiao, Salma Sami, Mariselle Lancero, Christopher R Schlieve, Trieu Nguyen, Koyori Yano, Ayako Nagahashi, Makoto Ikeya, Yoshihisa Matsumoto, Ken Nishimura, Aya Fukuda, Koji Hisatake, Kiichiro Tomoda, Isao Asaka, Junya Toguchida, Bruce R Conklin, Shinya Yamanaka
Fibrodysplasia ossificans progressiva (FOP) patients carry a missense mutation in ACVR1 [617G > A (R206H)] that leads to hyperactivation of BMP-SMAD signaling. Contrary to a previous study, here we show that FOP fibroblasts showed an increased efficiency of induced pluripotent stem cell (iPSC) generation. This positive effect was attenuated by inhibitors of BMP-SMAD signaling (Dorsomorphin or LDN1931890) or transducing inhibitory SMADs (SMAD6 or SMAD7). In normal fibroblasts, the efficiency of iPSC generation was enhanced by transducing mutant ACVR1 (617G > A) or SMAD1 or adding BMP4 protein at early times during the reprogramming...
November 15, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27756329/pre-surgical-ct-assessment-of-neurogenic-myositis-ossificans-of-the-hip-and-risk-factors-of-recurrence-a-series-of-101-consecutive-patients
#8
Bruno Law-Ye, Chloé Hangard, Adrien Felter, Dominique Safa, Philippe Denormandie, François Genet, Robert-Yves Carlier
BACKGROUND: Neurogenic Myositis Ossificans (NMO) is a rare disabling pathology characterized by peri-articular heterotopic ossifications following severe peripheral or central nervous system injuries. It results in ankylosis and vessels or nerves compressions. Our study aimed to describe the pre-operative findings of patients with NMO of the hip using biphasic computerized tomography (CT). METHODS: Between 2006 and 2012, we retrospectively analyzed 101 consecutive patients with hip NMO...
October 18, 2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/27713089/the-fibrodysplasia-ossificans-progressiva-fop-mutation-p-r206h-in-acvr1-confers-an-altered-ligand-response
#9
Laura Hildebrand, Katja Stange, Alexandra Deichsel, Manfred Gossen, Petra Seemann
Patients with Fibrodysplasia Ossificans Progressiva (FOP) suffer from ectopic bone formation, which progresses during life and results in dramatic movement restrictions. Cause of the disease are point mutations in the Activin A receptor type 1 (ACVR1), with p.R206H being most common. In this study we compared the signalling responses of ACVR1(WT) and ACVR1(R206H) to different ligands. ACVR1(WT), but not ACVR1(R206H) inhibited BMP signalling of BMP2 or BMP4 in a ligand binding domain independent manner. Likewise, the basal BMP signalling activity of the receptor BMPR1A or BMPR1B was inhibited by ACVR1(WT), but enhanced by ACVR1(R206H)...
October 4, 2016: Cellular Signalling
https://www.readbyqxmd.com/read/27691970/myositis-ossificans-traumatica-in-a-vampire-bat-desmodus-rotundus
#10
Jennifer C Hausmann, Jorden Manasse, Sarah Churgin, Howard Steinberg, Victoria L Clyde, Roberta Wallace
A 15-yr-old sexually intact female vampire bat ( Desmodus rotundus ) was diagnosed with myositis ossificans traumatica of the abdominal wall. The bat presented with a large ulcerated firm mass along the abdomen. Radiographs and cytology were performed, followed by surgical exploration. The mass was determined to be nonresectable and the bat was euthanized. Histopathology showed severe necrotizing, degenerative, and pyogranulomatous myositis with osseous and cartilaginous metaplasia, fibrosis, and ulceration, which were consistent with myositis ossificans traumatica...
September 2016: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/27672859/poster-92-identifying-nonhereditary-myositis-ossificans-traumaticus-in-a-community-hospital
#11
Quoc P Tran, Kannan Thanikachalam
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27659092/a-solitary-phlebolith-in-the-buccal-mucosa-report-of-a-rare-entity-and-clinicopathologic-correlation
#12
A Nagaraja, N Govindraj Kumar, B Jambukeshwar Kumar, Raghavendra M Naik, Y Jyoti Sangineedi
Pathological conditions can give rise to calcifications within oral mucosa representing either a local or systemic disturbance. Inflammation, trauma, debris acting as nidus and vascular lesions have been attributed as principal causes for occurrence of calcifications within the oral mucosa. Occurrence of multiple calcified thrombi (phleboliths) is considered pathognomonic for hemangiomas and vascular malformations in the oral and maxillofacial region. Isolated occurrence of phlebolith in oral mucosa though very rare, especially without any underlying vascular lesions, can be diagnostically challenging...
2016: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/27646893/-significance-of-satb2-in-the-pathologic-diagnosis-of-osteosarcoma
#13
M Li, Y P Cai, K Y Lu, Y Chen, X Zhu, Y Yin, J Tang
Objective: To investigate the role of SATB2 in the pathological diagnosis and differential diagnosis of osteosarcoma. Methods: Immunostaining of SATB2 was performed in 47 cases of osteosarcomas, 5 osteoblastomas, 4 fibrous dysplasias, 5 myositis ossificans, 10 chondroblastomas, 8 chondrosarcomas, 5 Ewing sarcomas, 5 undifferentiated pleomorphic sarcomas, 6 fibrosarcomas and 2 leiomyosarcomas. Results: All osteoblastomas (5/5) and myositis ossificans (5/5), 83.0%(39/47) of osteosarcomas and 2/10 of chondroblastomas showed nuclear immunoreactivity for SATB2...
September 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/27642411/-myositis-ossificans-circumscripta-an-unusual-location-about-a-case-and-review-of-the-literature
#14
Ikram Taam, Khouloud Boussouni, Bouchaib Redouane, Touriya Amil, Rachida Saouab
Myositis ossificans circumscripta (MOC) is a rare condition characterized by nontumoral heterotopic ossification of the soft tissues. This condition affects young subjects, occurring mainly after trauma. It is ubiquitous, predominantly located in girdles and limbs. We report the case of a young patient with paravertebral MOC without traumatic context; the aim of this study was to recall diagnostic criteria and imaging aspects.
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27604694/correction-high-throughput-screening-for-modulators-of-acvr1-transcription-discovery-of-potential-therapeutics-for-fibrodysplasia-ossificans-progressiva
#15
Serena Cappato, Laura Tonachini, Francesca Giacopelli, Mario Tirone, Luis J V Galietta, Martina Sormani, Anna Giovenzana, Antonello E Spinelli, Barbara Canciani, Silvia Brunelli, Roberto Ravazzolo, Renata Bocciardi
No abstract text is available yet for this article.
September 1, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27595081/synovial-sarcoma-mimicking-myositis-ossificans
#16
Mehmet Sabri Balik, Adem Erkut, Yılmaz Guvercin, Recep Bedir
A calcification mass was incidentally found in the soft tissue of a patient who had a history of trauma to the extremity during examination. The patient had no symptom. The pathological analysis of the mass revealed it was an early-phase synovial sarcoma (SS). The diagnosis was made before the onset of symptoms and proper surgical intervention was performed. Therefore, in case of a <1 cm lesion clinically suspicious of myositis ossificans, SS should be taken into consideration as a possible diagnosis.
September 2016: Knee Surgery & related Research
https://www.readbyqxmd.com/read/27582999/primum-non-nocere-a-case-of-a-humeral-fracture-in-a-patient-with-fibrodysplasia-progressiva-ossificans
#17
Alun Yewlett, Jeff Kitson, Andrew Redfern, Chris Smith
Fibrodysplasia progressiva ossificans (FPO) is an extremely rare condition characterized by abnormal heterotopic bone formation. The condition is eponymously known as 'stoneman' disease because patients can become effectively entombed within abnormal heterotopic bone. We present the first known case of a diaphyseal humeral fracture managed conservatively in an adult patient with this condition. This patient already had a pre-existing bony bar from a fusion mass involving the thoracic spine, scapula and ribs to her proximal humerus splinting the arm in a position of adduction with the palm of her hand facing towards her groin...
January 2016: Shoulder & Elbow
https://www.readbyqxmd.com/read/27565519/novel-asymptomatic-cns-findings-in-patients-with-acvr1-alk2-mutations-causing-fibrodysplasia-ossificans-progressiva
#18
Mariasavina Severino, Marta Bertamino, Domenico Tortora, Giovanni Morana, Sara Uccella, Renata Bocciardi, Roberto Ravazzolo, Andrea Rossi, Maja Di Rocco
BACKGROUND: Fibrodysplasia ossificans progressiva is an autosomal dominant disorder due to germline mutations of ACVR1/ALK2 causing progressive heterotopic endochondral ossifications. Evidence of central nervous system involvement has emerged only recently. METHODS: We performed an observational cross-sectional brain MRI study in 13 patients (8 females, mean age 20 years), examining the relationship of clinical and neuroradiological findings. RESULTS: All patients presented small asymptomatic lesions similar to hamartomas at the level of the dorsal medulla and ventral pons, associated with minor brainstem dysmorphisms and abnormal origin of the vestibulocochlear and facial nerves...
August 26, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27530160/the-acvr1-r206h-mutation-found-in-fibrodysplasia-ossificans-progressiva-increases-human-induced-pluripotent-stem-cell-derived-endothelial-cell-formation-and-collagen-production-through-bmp-mediated-smad1-5-8-signaling
#19
Emilie Barruet, Blanca M Morales, Wint Lwin, Mark P White, Christina V Theodoris, Hannah Kim, Ashley Urrutia, Sarah Anne Wong, Deepak Srivastava, Edward C Hsiao
BACKGROUND: The Activin A and bone morphogenetic protein (BMP) pathways are critical regulators of the immune system and of bone formation. Inappropriate activation of these pathways, as in conditions of congenital heterotopic ossification, are thought to activate an osteogenic program in endothelial cells. However, if and how this occurs in human endothelial cells remains unclear. METHODS: We used a new directed differentiation protocol to create human induced pluripotent stem cell (hiPSC)-derived endothelial cells (iECs) from patients with fibrodysplasia ossificans progressiva (FOP), a congenital disease of heterotopic ossification caused by an activating R206H mutation in the Activin A type I receptor (ACVR1)...
August 17, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27517079/total-ankylosis-of-the-upper-left-limb-a-case-of-progressive-osseous-heteroplasia
#20
Ali Birjandinejad, Mohammad-Hossein Taraz-Jamshidi, Sayyed Hadi Sayyed Hosseinian
Progressive osseous heteroplasia is a rare inherited disease that begins with skin ossification and proceeds into the deeper connective tissues. The disease should be distinguished from other genetic disorders of heterotopic ossification including fibrodysplasia ossificans progressiva (FOP) and Albright hereditary osteodystrophy (AHO). We report a case of progressive osseous heteroplasia in a twenty four years old male with a complaint of ankylosis of the entire upper left limb and digital cutaneous lesions and sparing of the other limbs and the axial skeleton...
June 2016: Archives of Bone and Joint Surgery
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