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https://www.readbyqxmd.com/read/29145736/longitudinal-study-of-the-activities-of-daily-living-and-quality-of-life-in-japanese-patients-with-fibrodysplasia-ossificans-progressiva
#1
Yasuo Nakahara, Hiroshi Kitoh, Yasuharu Nakashima, Junya Toguchida, Nobuhiko Haga
PURPOSE: Fibrodysplasia ossificans progressiva is a rare congenital disorder that causes systemic heterotopic ossification, leading to systemic ankyloses and mobility losses. This study aimed to ascertain the natural history of Fibrodysplasia ossificans progressiva. METHODS: In addition to the medical history questionnaire, patients aged 16 years and older were asked to complete activities of daily living and quality of life surveys using the Barthel Index, MOS 36-Item Short-Form Health Survey, and Health Assessment Questionnaire...
November 16, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29139166/animal-models-of-fibrodysplasia-ossificans-progressiva
#2
REVIEW
Melissa LaBonty, Pamela C Yelick
No abstract text is available yet for this article.
November 15, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/29134511/correction-to-rarely-occurring-mutation-of-acvr1-gene-in-moroccan-patient-with-fibrodysplasia-ossificans-progressiva
#3
Ilham Ratbi, Renata Bocciardi, Asmaa Regragui, Roberto Ravazzolo, Abdelaziz Sefiani
One of the author's name on this article was incorrectly spelled as "Renata Borcciadi". The correct spelling is "Renata Bocciardi" and is now presented correctly in this article.
November 13, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29128351/drosophila-models-of-fop-provide-mechanistic-insight
#4
REVIEW
Viet Le, Edward Anderson, Takuya Akiyama, Kristi A Wharton
Fibrodysplasia ossificans progressiva (FOP) is a rare bone disease characterized by episodic events of heterotopic ossification (HO). All cases of FOP have been attributed to mutations in the ACVR1 gene that render the encoded BMP type I ALK2 receptor hypersensitive, resulting in the activation of BMP signaling, at inappropriate times in inappropriate locations. The episodic or sporadic nature of HO associated with FOP rests with the occurrence of specific 'triggers' that push the hypersensitive ALK2-FOP receptor into full signaling mode...
November 8, 2017: Bone
https://www.readbyqxmd.com/read/29120519/palovarotene-inhibits-osteochondroma-formation-in-a-mouse-model-of-multiple-hereditary-exostoses
#5
Toshihiro Inubushi, Isabelle Lemire, Fumitoshi Irie, Yu Yamaguchi
Multiple hereditary exostoses (MHE), also known as multiple osteochondromas (MO), is an autosomal dominant disorder characterized by the development of multiple cartilage-capped bone tumors (osteochondromas). The large majority of patients with MHE carry loss-of-function mutations in the EXT1 or EXT2 gene, which encodes a glycosyltransferase essential for heparan sulfate (HS) biosynthesis. Increasing evidence suggests that enhanced BMP signaling resulting from loss of HS expression plays a role in osteochondroma formation in MHE...
November 9, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29100956/hints-on-transcriptional-control-of-essential-players-in-heterotopic-ossification-of-fibrodysplasia-ossificans-progressiva
#6
REVIEW
Roberto Ravazzolo, Serena Cappato, Renata Bocciardi
Signaling of the Bone Morphogenetic Protein (BMP) pathway is influenced by the level of expression of its components, in particular receptors, intracellular molecules and target genes which largely depends on gene transcription. One peculiar aspect of Fibrodysplasia Ossificans Progressiva (FOP) relates to the cell types in which the genetic mutation exerts its effects, then not only those involved in the heterotopic ossification processes but also others that participate in the inflammatory phases preceding and triggering heterotopic ossification...
October 31, 2017: Bone
https://www.readbyqxmd.com/read/29097342/variable-signaling-activity-by-fop-acvr1-mutations
#7
REVIEW
Julia Haupt, Meiqi Xu, Eileen M Shore
Most patients with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of heterotopic ossification, have the same causative mutation in ACVR1, R206H. However, additional mutations within the ACVR1 BMP type I receptor have been identified in a small number of FOP cases, often in patients with disease of lesser or greater severity than occurs with R206H mutations. Genotype-phenotype correlations have been suggested in patients, resulting in classification of FOP mutations based on location within different receptor domains and structural modeling...
October 30, 2017: Bone
https://www.readbyqxmd.com/read/29092643/arachnoiditis-ossificans-associated-with-syringomyelia-a-case-report
#8
Changbing Wang, Zhong Chen, Deyong Song, Tianhang Xuan
The association of arachnoiditis ossificans with syringomyelia is a rare pathological entity. We present an unusual case who presented with progressive myelopathy caused by arachnoidits ossificans and syringomyelia. The pathophysiology and treatment strategy of this rare entity are still controversial.
November 2, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29089672/radiological-requirements-for-surgical-planning-in-cochlear-implant-candidates
#9
Mohamad Hasan Alam-Eldeen, Usama Mohamed Rashad, Al Hussein Awad Ali
OBJECTIVE: This study is concerned with clarification of radiological findings that should be addressed and reported in patients listed for cochlear implant (CI) operation. These findings may force a surgeon to consider modifications of the surgical approach by a CI surgeon. MATERIALS AND METHODS: The study was performed from January 2015 to January 2016. It included 50 patients with severe-to-profound sensorineural hearing loss who fulfilled the criteria for CI...
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29044622/sonographic-diagnosis-of-neuritis-ossificans-of-the-median-nerve
#10
Ki Hyun Lee, Yu Mi Jeong, Ji Young Jeon, Taeseong Im, Sheen-Woo Lee, So Hyun Park, Jeong Ho Kim
We report the sonographic appearance of a rare case of neuritis ossificans of the median nerve at the wrist, which appeared as a hyperechoic lesion around the nerve. Diagnosis was confirmed with magnetic resonance imaging (MRI).
October 17, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/29033382/clinical-pathological-correlations-in-three-patients-with-fibrodysplasia-ossificans-progressiva
#11
Kelly L Wentworth, Katherine Bigay, Tea V Chan, Jennifer P Ho, Blanca M Morales, Joseph Connor, Erin Brooks, M Shahriar Salamat, Henry Charles Sanchez, Geoffrey Wool, Robert J Pignolo, Frederick S Kaplan, Edward C Hsiao
OBJECTIVE: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder in which heterotopic bone forms in the soft tissues. This often occurs in response to injury or inflammation, leading to joint immobilization and significant disability. There are currently no definitive treatment options for this devastating disease. Although the most dramatic phenotype in FOP is the episodic and progressive heterotopic ossification, patients report a number of symptoms that affect other organ systems...
October 13, 2017: Bone
https://www.readbyqxmd.com/read/28988329/ultrasonography-and-return-to-play-of-the-different-clinical-grading-of-quadriceps-contusions-a-case-series
#12
Rolando Junior L Torres, Soichi Hattori, Yuki Kato, Shin Yamada, Hiroshi Ohuchi
Prognostication of quadriceps contusion is based on the patient's active knee flexion after the injury. Unlike ultrasonography, clinical grading does not define the extent of soft tissue injury and may provide inaccurate time for return to play. The purposes of this report are to describe the ultrasound findings of the different clinical grading of quadriceps contusion and document the return to play of each case. Seven patients were evaluated in this series. Results showed discrepancies in the disability time between clinical grading and ultrasound findings...
October 7, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28986986/depletion-of-mast-cells-and-macrophages-impairs-heterotopic-ossification-in-an-acvr1-r206h-mouse-model-of-fibrodysplasia-ossificans-progressiva
#13
Michael R Convente, Salin A Chakkalakal, EnJun Yang, Robert J Caron, Deyu Zhang, Taku Kambayashi, Frederick S Kaplan, Eileen M Shore
Heterotopic ossification (HO) is a clinical condition that often reduces mobility and diminishes quality of life for affected individuals. The most severe form of progressive HO occurs in those with fibrodysplasia ossificans progressiva (FOP; OMIM #135100), a genetic disorder caused by a recurrent heterozygous gain-of-function mutation (R206H) in the bone morphogenetic protein (BMP) type I receptor ACVR1/ALK2. In individuals with FOP, episodes of HO frequently follow injury. The first sign of active disease is commonly an inflammatory "flare-up" that precedes connective tissue degradation, progenitor cell recruitment, and endochondral HO...
October 7, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28985649/peripheral-blood-mononuclear-cell-immunophenotyping-in-fibrodysplasia-ossificans-progressiva-patients-evidence-for-monocyte-dnam1-up-regulation
#14
Genny Del Zotto, Francesca Antonini, Irma Azzari, Claudio Ortolani, Gino Tripodi, Francesca Giacopelli, Serena Cappato, Lorenzo Moretta, Roberto Ravazzolo, Renata Bocciardi
Background Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder caused by sporadic heterozygous mutations in ACVR1 gene which progressively leads to severe heterotopic ossification. FOP is characterized by episodic flare-ups triggered by different factors such as viral infections, tissue injuries, vaccinations or occurring without a recognizable cause. The sporadic course of the disease, the documented presence of an important inflammatory reaction in early lesions and the partial response to corticosteroids support the idea that the immune system, and in particular the innate component, may play a role in FOP pathogenesis...
October 6, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28963080/cartilage-derived-retinoic-acid-sensitive-protein-cd-rap-a-stage-specific-biomarker-of-heterotopic-endochondral-ossification-heo-in-fibrodysplasia-ossificans-progressiva-fop
#15
Carter M Lindborg, Tracy A Brennan, Haitao Wang, Frederick S Kaplan, Robert J Pignolo
BACKGROUND: Genesis of a cartilaginous scaffold is an obligate precursor to bone formation in heterotopic endochondral ossification (HEO). We tested the hypothesis that cartilage-derived retinoic acid-sensitive protein (CD-RAP) can serve as a plasma biomarker for the pre-osseous cartilaginous stage of HEO. Palovarotene, a retinoic acid receptor-gamma (RARγ) agonist, has been proposed as a possible treatment for fibrodysplasia ossificans progressiva (FOP) and is a potent inhibitor of HEO in mouse models...
September 28, 2017: Bone
https://www.readbyqxmd.com/read/28943457/clinical-staging-of-fibrodysplasia-ossificans-progressiva-fop
#16
Robert J Pignolo, Frederick S Kaplan
Fibrodyplasia ossificans progressiva (FOP) is an ultra-rare genetic condition of heterotopic ossification (HO) that results in progressive loss of joint function, ultimately rendering movement impossible. Death is most commonly the result of thoracic insufficiency syndrome, or complications related to recurrent respiratory infections. There are no current treatments for FOP, but early and emerging clinical trials offer hope for this devastating disease. With the recent reporting of a comprehensive global natural history study, scales to assess joint dysfunction, and a more accurate prediction of joint survival, it is now possible to construct a conceptual framework for the clinical staging of FOP...
September 21, 2017: Bone
https://www.readbyqxmd.com/read/28918311/structural-basis-for-the-potent-and-selective-binding-of-ldn-212854-to-the-bmp-receptor-kinase-alk2
#17
Eleanor Williams, Alex N Bullock
Individuals with the rare developmental disorder fibrodysplasia ossificans progressiva (FOP) experience disabling heterotopic ossification caused by a gain of function mutation in the intracellular region of the BMP type I receptor kinase ALK2, encoded by the gene ACVR1. Small molecule BMP type I receptor inhibitors that block this ossification in FOP mouse models have been derived from the pyrazolo[1,5-a]pyrimidine scaffold of dorsomorphin. While the first derivative LDN-193189 exhibited pan inhibition of BMP receptors, the more recent compound LDN-212854 has shown increased selectivity for ALK2...
September 12, 2017: Bone
https://www.readbyqxmd.com/read/28866367/the-fop-connection-registry-design-of-an-international-patient-sponsored-registry-for-fibrodysplasia-ossificans-progressiva
#18
Neal Mantick, Eric Bachman, Genevieve Baujat, Matt Brown, Oliver Collins, Carmen De Cunto, Patricia Delai, Marelise Eekhoff, Roger Zum Felde, Donna Roy Grogan, Nobuhiko Haga, Edward Hsiao, Sharon Kantanie, Frederick Kaplan, Richard Keen, Jelena Milosevic, Rolf Morhart, Robert Pignolo, Xiaobing Qian, Maja di Rocco, Christiaan Scott, Adam Sherman, Marin Wallace, Nicky Williams, Keqin Zhang, Betsy Bogard
The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry is an international, voluntary, observational study that directly captures demographic and disease information initially from patients with FOP (the patient portal) and in the near future from treating physicians (the physician portal) via a secure web-based tool. It was launched by the International FOP Association (IFOPA) with a guiding vision to develop and manage one unified, global, and coordinated Registry allowing the assembly of the most comprehensive data on FOP...
August 30, 2017: Bone
https://www.readbyqxmd.com/read/28855331/drosophila-nociceptive-sensitization-requires-bmp-signaling-via-the-canonical-smad-pathway
#19
Taylor L Follansbee, Kayla J Gjelsvik, Courtney L Brann, Aidan L McParland, Colin A Longhurst, Michael J Galko, Geoffrey K Ganter
Nociceptive sensitization is a common feature in chronic pain, but its basic cellular mechanisms are only partially understood. The present study used the Drosophila melanogaster model system and a candidate gene approach to identify novel components required for modulation of an injury-induced nociceptive sensitization pathway presumably downstream of Hedgehog. This study demonstrates that RNAi silencing of a member of the Bone Morphogenetic Protein (BMP) signaling pathway, Decapentaplegic (Dpp), specifically in the Class IV multidendritic nociceptive neuron, significantly attenuated ultraviolet injury-induced sensitization...
August 30, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28851540/mast-cell-inhibition-as-a-therapeutic-approach-in-fibrodysplasia-ossificans-progressiva-fop
#20
Tracy A Brennan, Carter M Lindborg, Christian R Bergbauer, Haitao Wang, Frederick S Kaplan, Robert J Pignolo
BACKGROUND: Episodic flare-ups of fibrodysplasia ossificans progressiva (FOP) are characterized clinically by severe, often posttraumatic, connective tissue swelling and intramuscular edema, followed histologically by an intense and highly angiogenic fibroproliferative reaction. This early inflammatory and angiogenic fibroproliferative response is accompanied by the presence of abundant mast cells far in excess of other reported myopathies. RESULTS: Using an injury-induced, constitutively-active transgenic mouse model of FOP we show that mast cell inhibition by cromolyn, but not aprepitant, results in a dramatic reduction of heterotopic ossification...
August 26, 2017: Bone
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