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https://www.readbyqxmd.com/read/29320714/a-case-report-of-mesenteric-heterotopic-ossification-histopathologic-and-genetic-findings
#1
REVIEW
Matthew Amalfitano, Billie Fyfe, Sumi V Thomas, Kevin P Egan, Meiqi Xu, Andrew G Smith, Frederick S Kaplan, Eileen M Shore, Robert J Pignolo
Mesenteric heterotopic ossification (MHO) is very rare and occurs in mid- to late-adulthood, usually in the context of prior abdominal surgery. The mechanisms of MHO are unknown. Here we describe the case of a 72-year-old man with MHO. Standard histological staining revealed that MHO occurred through an endochondral process. By comparison to known mutations in genetic conditions of HO such as fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH), DNA sequencing analysis demonstrated the presence of a commonly occurring heterozygous synonymous polymorphism (c...
January 7, 2018: Bone
https://www.readbyqxmd.com/read/29301813/paratesticular-myositis-ossificans-of-the-spermatic-cord
#2
Justin M Hintze, Kevin O'Hare, Ted McDermott, Arun Z Thomas
A 56-year-old man presented with a painless scrotal lump, enlarging over the preceding 1 month. The lump was roughly 1 cm in size, and located in his left hemiscrotum and separate from the testis. An ultrasound revealed an echogenic focus with dystrophic tissue calcification. Subsequent surgical excision and histopathological analysis revealed it to be late-stage myositis ossificans, a benign, extraosseous formation of the bone or cartilage. We report of only the second described case of myositis ossificans of the spermatic cord in the literature to date...
January 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29288875/ecsit-links-tlr-and-bmp-signaling-in-fop-connective-tissue-progenitor-cells
#3
REVIEW
Haitao Wang, Edward M Behrens, Robert J Pignolo, Frederick S Kaplan
Clinical and laboratory observations strongly suggest that the innate immune system induces flare-ups in the setting of dysregulated bone morphogenetic protein (BMP) signaling in fibrodysplasia ossificans progressiva (FOP). In order to investigate the signaling substrates of this hypothesis, we examined toll-like receptor (TLR) activation and bone morphogenetic protein (BMP) signaling in connective tissue progenitor cells (CTPCs) from FOP patients and unaffected individuals. We found that inflammatory stimuli broadly activate TLR expression in FOP CTPCs and that TLR3/TLR4 signaling amplifies BMP pathway signaling through both ligand dependent and independent mechanisms...
December 27, 2017: Bone
https://www.readbyqxmd.com/read/29259851/fibrodysplasia-ossificans-progressiva-basic-understanding-and-experimental-models
#4
REVIEW
Zijuan Qi, Jing Luan, Xiaoyan Zhou, Yazhou Cui, Jinxiang Han
Fibrodysplasia ossificans progressive (FOP) is an extremely rare autosomal dominant disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification that can induce a disabling second skeleton. Spontaneously occurring flare-ups can cause inflammatory soft tissue to swell, followed by progressive and disabling heterotopic endochondral ossification. FOP is very rare, with an estimated incidence of one case per two million individuals. There is no definitive treatment for FOP, but the longevity of patients with FOP can be extended by early diagnosis and appropriate prevention of flares-up...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29241828/acute-and-chronic-rapamycin-use-in-patients-with-fibrodysplasia-ossificans-progressiva-a-report-of-two-cases
#5
REVIEW
Frederick S Kaplan, Leonid Zeitlin, Stephen P Dunn, Shira Benor, David Hagin, Mona Al Mukaddam, Robert J Pignolo
Fibrodysplasia Ossificans Progressiva (FOP) is an ultrarare genetic disorder of progressive, disabling heterotopic ossification for which there is presently no definitive treatment. Several recent studies in genetic mouse models of FOP support involvement of the mechanistic target of rapamycin complex 1 (mTORC1) pathway in the pathophysiology of FOP and propose the repurposed use of rapamycin, an inhibitor of mTORC1 signaling in clinical trials for the management of FOP. Here we report two patients with the classic FOP mutation who received rapamycin-one for four months on a compassionate basis for treatment of acute flare-ups of the neck and back that were refractory to corticosteroid therapy-and the other for 18years for chronic immunosuppression following liver transplantation for intercurrent cytomegalovirus infection...
December 11, 2017: Bone
https://www.readbyqxmd.com/read/29241827/prevalence-and-risk-factors-for-kidney-stones-in-fibrodysplasia-ossificans-progressiva
#6
REVIEW
Rishi R Gupta, Patricia L R Delai, David L Glaser, David M Rocke, Mona Al Mukaddam, Robert J Pignolo, Frederick S Kaplan
The worldwide prevalence and risk factors for kidney stones in patients with fibrodysplasia ossificans progressiva (FOP) are unknown. We conducted a survey of 383 patient-members of the International Fibrodysplasia Ossificans Progressiva Association, comprising the entire global membership of the international FOP community. Two hundred seven patients from 31 nations and 6 continents (54%) responded. Nineteen of 207 respondents had kidney stones, revealing a worldwide prevalence of 9.2%. In a confirmatory follow-up study of subjects participating in a longitudinal FOP natural history study, 9 of 114 individuals reported a history of kidney stones (7...
December 11, 2017: Bone
https://www.readbyqxmd.com/read/29234550/a-unique-case-of-melorheostosis-presenting-with-two-radiologically-distinct-lesions-in-the-shoulder
#7
Ahmed A Elsheikh, Rohan S Pinto, Alpesh Mistry, Simon P Frostick
Melorheostosis is a rare, nonhereditary, benign, mesenchymal condition of unknown aetiology affecting the bones and surrounding tissues. A male patient complaining of left shoulder pain, swelling, and mildly limited range of motion has an exclusive combination of the classic dripping wax lesion in the scapula and the myositis ossificans-like lesion in the deltoid muscle; this combination is the first to be reported in the shoulder. Both lesions showed typical findings of melorheostosis in radiographs, CT, MRI, and bone scan...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29220207/mr-imaging-of-muscle-trauma-anatomy-biomechanics-pathophysiology-and-imaging-appearance
#8
Dyan V Flores, Catalina Mejía Gómez, Mauricio Estrada-Castrillón, Edward Smitaman, Mini N Pathria
Muscle is an important component of the muscle-tendon-bone unit, driving skeletal motion through contractions that alter the length of the muscle. The muscle and myotendinous junction (MTJ) are most commonly injured in the young adult, as a result of indirect mechanisms such as overuse or stretching, direct impact (penetrating or nonpenetrating), or dysfunction of the supporting connective tissues. Magnetic resonance (MR) imaging is widely used for assessment of muscle injuries. This review illustrates the MR imaging appearance of a broad spectrum of acute, subacute, and chronic traumatic lesions of muscle, highlighting the pathophysiology, biomechanics, and anatomic considerations underlying these lesions...
December 8, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29210904/chondrosarcoma-of-the-cervical-spine
#9
Lindsay Gietzen, Philip Pokorski
This case report describes the diagnosis, surgical treatment, and management of a patient with low-grade chondrosarcoma of the cervical spine that initially presented as myositis ossificans. Chondrosarcoma is rare in the cervical spine and in this patient, may have been the result of an injury from a motor vehicle crash. The management of this patient has been unusual in that a complete excision was not performed because the patient refused standard treatment.
December 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/29177172/outcome-of-long-standing-ulno-humeral-dislocation-managed-by-open-reduction-and-stabilization-with-v-y-plasty-our-experience
#10
Vikram Khanna, Ashish Gupta, Sanjeev Kumar
Objective: To assess the outcome of long standing ulno-humeral dislocation managed by open reduction and stabilization with V-Y plasty. Methods: This cross sectional study included 14 patients with elbow dislocation that was more than 3 months without joint ankylosis, myositis ossificans or nerve injury. The surgical management not only included open reduction of the elbow joint, but also elongation of the triceps aponeurosis, collateral ligament repair along with the stabilization of the elbow joint...
October 2017: Bulletin of Emergency and Trauma
https://www.readbyqxmd.com/read/29177121/hard-targets-for-a-second-skeleton-therapeutic-horizons-for-fibrodysplasia-ossificans-progressiva-fop
#11
Frederick S Kaplan, Robert J Pignolo, Mona M Al Mukaddam, Eileen M Shore
No abstract text is available yet for this article.
2017: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/29175272/fibrodysplasia-ossificans-progressiva-in-china
#12
REVIEW
Dunmin She, Keqin Zhang
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare and devastating disorder characterized by cumulative episodes of progressive heterotopic ossification. It is estimated that there exist 600-700 patients in Mainland China. Nevertheless, due to the rarity, many FOP patients were initially misdiagnosed. Until now fewer than 150 patients have been identified in Mainland China. This review summarizes the epidemiology and clinical features of FOP patients, the progress of clinical and basic research in China, and the future of FOP care in China...
November 21, 2017: Bone
https://www.readbyqxmd.com/read/29170109/activin-a-amplifies-dysregulated-bmp-signaling-and-induces-chondro-osseous-differentiation-of-primary-connective-tissue-progenitor-cells-in-patients-with-fibrodysplasia-ossificans-progressiva-fop
#13
REVIEW
Haitao Wang, Eileen M Shore, Robert J Pignolo, Frederick S Kaplan
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), is caused by mutations in the type I BMP receptor ACVR1 that lead to increased activation of the BMP-pSmad1/5/8 signaling pathway. Recent findings suggest that Activin A (Act A) promiscuously stimulates the bone morphogenetic protein (BMP) signaling pathway in vitro and mediates heterotopic ossification (HO) in mouse models of FOP, but primary data from FOP patient cells are lacking. OBJECTIVE: To examine BMP-pSmad1/5/8 pathway signaling and chondro-osseous differentiation in response to endogenous and exogenous Act A in primary connective tissue progenitor cells [CTPCs; also known as stem cells from human exfoliated deciduous teeth (SHED) cells] from patients with FOP...
November 20, 2017: Bone
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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