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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
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
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
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
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...
January 30, 2018: Bone
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
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
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
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
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
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
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
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
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
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
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...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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
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
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
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 22, 2017: Bone
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