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https://www.readbyqxmd.com/read/29747017/a-novel-association-between-intrathecal-drug-administration-and-arachnoiditis-ossificans
#1
Max Ward, Antonios Mammis, Maureen T Barry, Robert F Heary
We present a case of delayed progression of adhesive arachnoiditis to arachnoiditis ossificans (AO) in a patient being treated with a high dose polypharmaceutical intrathecal regimen. The patient is a 39-year-old Caucasian male who was implanted with an intrathecal pump in 2006 to control severe low back pain and administered intrathecal pain medication for a period of 10 years. In 2016, he developed new onset radicular pain and worsened sensation in his lower extremities. A CT scan of the lumbar spine at that time demonstrated profound calcification of the arachnoid consistent with a diagnosis of AO...
May 7, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29730069/severe-trismus-and-contraindicated-exodontia-in-a-patient-with-fibrodysplasia-ossificans-progressiva-case-report
#2
A Geddis-Regan
Fibrodysplasia ossificans progressiva is a rare genetic disease of connective tissue in which muscles, ligaments, and tendons ossify either spontaneously or after trauma. Patients can develop physical disabilities and restriction of respiratory function. A patient attended a maxillofacial surgery outpatient clinic with severe trismus and mouth opening limited to 2mm. The risks of intervention were many from both anaesthetic and surgical perspectives, which prevented the extraction of carious teeth. The patient was referred to a special care dentistry team who provided endodontic stabilisation without local anaesthesia...
May 2, 2018: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/29712545/myositis-ossificans-delayed-complication-of-severe-muscle-contusion
#3
Giacomo Rossettini, Diego Ristori, Marco Testa
A 39-year-old male nonprofessional cyclist presented to physical therapy reporting deep, stabbing, anterolateral left thigh pain. Clinical findings led the physical therapist to request radiographs, which revealed myositis ossificans in the left thigh. J Orthop Sports Phys Ther 2018;48(5):420. doi:10.2519/jospt.2018.7567.
May 2018: Journal of Orthopaedic and Sports Physical Therapy
https://www.readbyqxmd.com/read/29661729/myositis-ossificans-another-condition-with-usp6-rearrangement-providing-evidence-of-a-relationship-with-nodular-fasciitis-and-aneurysmal-bone-cyst
#4
Elise M Bekers, Astrid Eijkelenboom, Katrien Grünberg, Rona C Roverts, Jacky W J de Rooy, Ingrid C M van der Geest, Joost M van Gorp, David Creytens, Uta Flucke
Myositis ossificans is defined as a self-limiting pseudotumor composed of reactive hypercellular fibrous tissue and bone. USP6 rearrangements have been identified as a consistent genetic driving event in aneurysmal bone cyst and nodular fasciitis. It is therefore an integral part of the diagnostic workup when dealing with (myo)fibroblastic lesions of soft tissue and bone. Two cases of myositis ossificans with USP6 rearrangement were published so far. We determine herein the incidence of USP6 rearrangement in myositis ossificans using USP6 fluorescence in situ hybridization analysis (FISH)...
January 12, 2018: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29659394/a-bizarre-bone-scan-of-fibrodysplasia-ossificans-progressiva
#5
Tzyy-Ling Chuang, Kuo-Wei Ho, Yuh-Feng Wang
A 27-year-old woman had progressive bony ankylosis over both hands since she was 5 years old. Bony ankylosing over the peripheral joints and spine slowly progressed, and scoliosis surgery was performed at age 14. Recently, she developed difficulty walking, changing position, and opening her mouth. A neurologist was consulted and ruled out the suspicion of narcolepsy. Chest CT showed ankylosing spondylitis. A bone scan showed a bizarre pattern with radiouptake to the left maxilla, bilateral sacroiliac joints, left middle third femur, and soft tissue uptake over bilateral arms, legs, and pelvis...
June 2018: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29650059/labyrinthitis-ossificans-in-a-cynomolgus-macaque-macaca-fascicularis
#6
Gayathriy Balamayooran, Hannah M Atkins, Christopher T Whitlow, Samuel T Aycock, Michael A Nader, J Mark Cline, David L Caudell
Labyrinthitis is inflammation of the membranous and bony labyrinth of the inner ear. Typical portals of entry includehematogenous spread from the cochlear vasculature, passage of otitis media pathogens through the round window, and mostcommonly, meningogenic spread from the subarachnoid space. The sequela of chronic inner ear inflammation is labyrinthitisossificans, in which inner ear structures are replaced by fibrous and osseous tissues. Labyrinthitis in humans has been reportedconcurrently with infection due to various viruses (for example, varicella-zoster, measles, mumps) and bacteria (for example,Treponema pallidum, Streptococcus pneumoniae) and may be associated with vertebrobasilar ischemia and meningitis...
April 12, 2018: Comparative Medicine
https://www.readbyqxmd.com/read/29626545/hypoxia-selective-allosteric-destabilization-of-activin-receptor-like-kinases-a-potential-therapeutic-avenue-for-prophylaxis-of-heterotopic-ossification
#7
Guorong Lu, Mary R Tandang-Silvas, Alyssa C Dawson, Trenton J Dawson, Jay C Groppe
Heterotopic ossification (HO), the pathological extraskeletal formation of bone, can arise from blast injuries, severe burns, orthopedic procedures and gain-of-function mutations in a component of the bone morphogenetic protein (BMP) signaling pathway, the ACVR1/ALK2 receptor serine-threonine (protein) kinase, causative of Fibrodysplasia Ossificans Progressiva (FOP). All three ALKs (-2, -3, -6) that play roles in bone morphogenesis contribute to trauma-induced HO, hence are well-validated pharmacological targets...
April 4, 2018: Bone
https://www.readbyqxmd.com/read/29614433/acquired-and-congenital-forms-of-heterotopic-ossification-new-pathogenic-insights-and-therapeutic-opportunities
#8
REVIEW
Maurizio Pacifici
Heterotopic ossification (HO) involves the formation and accumulation of extraskeletal bone tissue at the expense of local tissues including muscles and connective tissues. There are common forms of HO that are triggered by extensive trauma, burns and other bodily insults, and there are also rare congenital severe forms of HO that occur in children with Fibrodysplasia Ossificans Progressiva or Progressive Osseous Heteroplasia. Given that HO is often preceded by inflammation, current treatments usually involve anti-inflammatory drugs alone or in combination with local irradiation, but are not very effective...
March 31, 2018: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/29593117/genetic-defects-in-sapk-signalling-chromatin-regulation-vesicle-transport-and-coa-related-lipid-metabolism-are-rescued-by-rapamycin-in-fission-yeast
#9
Kenichi Sajiki, Yuria Tahara, Alejandro Villar-Briones, Tomáš Pluskal, Takayuki Teruya, Ayaka Mori, Mitsuko Hatanaka, Masahiro Ebe, Takahiro Nakamura, Keita Aoki, Yukinobu Nakaseko, Mitsuhiro Yanagida
Rapamycin inhibits TOR (target of rapamycin) kinase, and is being used clinically to treat various diseases ranging from cancers to fibrodysplasia ossificans progressiva. To understand rapamycin mechanisms of action more comprehensively, 1014 temperature-sensitive (ts) fission yeast ( Schizosaccharomyces pombe ) mutants were screened in order to isolate strains in which the ts phenotype was rescued by rapamycin. Rapamycin-rescued 45 strains, among which 12 genes responsible for temperature sensitivity were identified...
March 2018: Open Biology
https://www.readbyqxmd.com/read/29587443/the-horizon-of-a-therapy-for-rare-genetic-diseases-a-druggable-future-for-fibrodysplasia-ossificans-progressiva
#10
REVIEW
Serena Cappato, Francesca Giacopelli, Roberto Ravazzolo, Renata Bocciardi
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition characterized by progressive extra-skeletal ossification leading to cumulative and severe disability. FOP has an extremely variable and episodic course and can be induced by trauma, infections, iatrogenic harms, immunization or can occur in an unpredictable way, without any recognizable trigger. The causative gene is ACVR1 , encoding the Alk-2 type I receptor for bone morphogenetic proteins (BMPs). The signaling is initiated by BMP binding to a receptor complex consisting of type I and II molecules and can proceed into the cell through two main pathways, a canonical, SMAD-dependent signaling and a p38-mediated cascade...
March 26, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29551750/effects-of-fkbp12-and-type-ii-bmp-receptors-on-signal-transduction-by-alk2-activating-mutations-associated-with-genetic-disorders
#11
Aiko Machiya, Sho Tsukamoto, Satoshi Ohte, Mai Kuratani, Mai Fujimoto, Keigo Kumagai, Kenji Osawa, Naoto Suda, Alex N Bullock, Takenobu Katagiri
Various substitution mutations in ALK2, a transmembrane serine/threonine kinase receptor for bone morphogenetic proteins (BMPs), have been identified in patients with genetic disorders such as fibrodysplasia ossificans progressiva (FOP), diffuse intrinsic pontine glioma (DIPG) and heart defects. In this study, we characterized the ALK2 mutants R258G, G328V and F246Y, which were identified in patients with severe FOP, DIPG and unusual hereditary skeletal dysplasia, respectively. Both R258G and G328V were gain-of-function mutations, but F246Y was equivalent to wild-type ALK2...
March 15, 2018: Bone
https://www.readbyqxmd.com/read/29482508/difficult-diagnosis-and-genetic-analysis-of-fibrodysplasia-ossificans-progressiva-a-case-report
#12
Shengjie Tian, Jianhua Zhu, Yaogang Lu
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarity of the disease makes it common to make a misdiagnosis and cause mismanagement. CASE PRESENTATION: We reported a case of a sixteen-year-old male patient who had suffered from pain and swelling in the biopsy site for two months...
February 27, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29445932/fibrodysplasia-ossificans-progressiva-a-current-review-of-imaging-findings
#13
REVIEW
Adam H Bauer, Jeff Bonham, Luis Gutierrez, Edward C Hsiao, Daria Motamedi
OBJECTIVE: Fibrodysplasia ossificans progressiva is a rare genetic disorder characterized by congenital skeletal deformities and soft tissue masses that progress to heterotopic ossification. Deformities of the great toes are distinctive, and heterotopic ossification in the soft tissues follows an expected anatomic and temporal pattern. In addition to heterotopic ossification, osteochondromata, middle ear ossification, demyelination, lymphedema, and venous thrombosis are characteristic...
February 14, 2018: Skeletal Radiology
https://www.readbyqxmd.com/read/29424174/-a-case-control-study-of-perpendicular-or-parallel-double-plate-for-the-treatment-of-young-and-middle-aged-patients-with-type-c-fractures-of-distal-humerus
#14
Ye-Feng Yu, Jia-Ping Dai, Jian-Ming Sheng, Xiao Zhou
OBJECTIVE: To compare clinical outcomes of perpendicular or parallel double plate in treating type C fractures of distal humerus in adults. METHODS: From March 2009 and March 2013, 40 adult patients with type C distal humerus fractures were treated. The patients were divided into two groups according to fixed form. In perpendicular group(group A), there were 13 males and 9 females with a mean age of (37.56±9.24) years old(ranged 18 to 56);while in parallel plating group(group B), including 11 males and 7 females, with a mean age of (41...
June 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29416028/inhibition-of-overactive-tgf-%C3%AE-attenuates-progression-of-heterotopic-ossification-in-mice
#15
Xiao Wang, Fengfeng Li, Liang Xie, Janet Crane, Gehua Zhen, Yuji Mishina, Ruoxian Deng, Bo Gao, Hao Chen, Shen Liu, Ping Yang, Manman Gao, Manli Tu, Yiguo Wang, Mei Wan, Cunyi Fan, Xu Cao
Acquired heterotopic ossification (HO) is a painful and debilitating disease characterized by extraskeletal bone formation after injury. The exact pathogenesis of HO remains unknown. Here we show that TGF-β initiates and promotes HO in mice. We find that calcified cartilage and newly formed bone resorb osteoclasts after onset of HO, which leads to high levels of active TGF-β that recruit mesenchymal stromal/progenitor cells (MSPCs) in the HO microenvironment. Transgenic expression of active TGF-β in tendon induces spontaneous HO, whereas systemic injection of a TGF-β neutralizing antibody attenuates ectopic bone formation in traumatic and BMP-induced mouse HO models, and in a fibrodysplasia ossificans progressive mouse model...
February 7, 2018: Nature Communications
https://www.readbyqxmd.com/read/29409971/stem-cells-and-heterotopic-ossification-lessons-from-animal-models
#16
REVIEW
John B Lees-Shepard, David J Goldhamer
Put most simply, heterotopic ossification (HO) is the abnormal formation of bone at extraskeletal sites. HO can be classified into two main subtypes, genetic and acquired. Acquired HO is a common complication of major connective tissue injury, traumatic central nervous system injury, and surgical interventions, where it can cause significant pain and postoperative disability. A particularly devastating form of HO is manifested in the rare genetic disorder, fibrodysplasia ossificans progressiva (FOP), in which progressive heterotopic bone formation occurs throughout life, resulting in painful and disabling cumulative immobility...
April 2018: Bone
https://www.readbyqxmd.com/read/29396429/activin-dependent-signaling-in-fibro-adipogenic-progenitors-causes-fibrodysplasia-ossificans-progressiva
#17
John B Lees-Shepard, Masakazu Yamamoto, Arpita A Biswas, Sean J Stoessel, Sarah-Anne E Nicholas, Cathy A Cogswell, Parvathi M Devarakonda, Michael J Schneider, Samantha M Cummins, Nicholas P Legendre, Shoko Yamamoto, Vesa Kaartinen, Jeffrey W Hunter, David J Goldhamer
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disorder characterized by progressive and profoundly disabling heterotopic ossification (HO). Here we show that fibro/adipogenic progenitors (FAPs) are a major cell-of-origin of HO in an accurate genetic mouse model of FOP (Acvr1 tnR206H ). Targeted expression of the disease-causing type I bone morphogenetic protein (BMP) receptor, ACVR1(R206H), to FAPs recapitulates the full spectrum of HO observed in FOP patients. ACVR1(R206H)-expressing FAPs, but not wild-type FAPs, activate osteogenic signaling in response to activin ligands...
February 2, 2018: Nature Communications
https://www.readbyqxmd.com/read/29357903/principles-for-interactions-with-biopharmaceutical-companies-the-development-of-guidelines-for-patient-advocacy-organizations-in-the-field-of-rare-diseases
#18
Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R Kahn, Jane Larkindale, Toni Mathieson
BACKGROUND: Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization. Biopharmaceutical companies face complex challenges in developing treatments for rare diseases. Patient advocacy organizations may play a major role by positively influencing research and development, clinical trials, and regulations. Thus, collaboration among patient advocacy organizations and industry is essential to bring new therapeutics to patients...
January 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29349989/-artificial-radial-head-replacement-for-the-treatment-of-comminuted-fractures-of-the-radial-head
#19
Li-Chun Liu, Wen-Jun Ding, Xiao-Xiang Zhou, Da-Dong Zhu, Jin-Liang Huang
OBJECTIVE: To assess the clinical effects of artificial radial head prosthesis replacement for the treatment of comminuted fracture of the radial head. METHODS: From June 2011 to June 2015, 25 patients with radial head comminuted fracture were treated with artificial radial head replacement, including 10 males and 15 females, ranging in age form 24 to 61 years old(mean, 40 years old). The functional recovery of the patients suffering from limb and elbow in different periods, the activity degree of the elbow joint and the function of the elbow in the latest follow-up were compared...
April 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29320714/a-case-report-of-mesenteric-heterotopic-ossification-histopathologic-and-genetic-findings
#20
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...
April 2018: Bone
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