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Fibrous dysplasia

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https://www.readbyqxmd.com/read/28339091/fibulin-4-promotes-osteosarcoma-invasion-and-metastasis-by-inducing-epithelial-to-mesenchymal-transition-via-the-pi3k-akt-mtor-pathway
#1
Dong Zhang, Songgang Wang, Jie Chen, Haitao Liu, Jinfa Lu, Hua Jiang, Aimin Huang, Yunzhen Chen
This study explored the role of fibulin-4 in osteosarcoma progression and the possible signaling pathway involved. Fibulin-4 mRNA and protein expression in normal tissue, benign fibrous dysplasia, osteosarcoma, osteosarcoma cell lines, the normal osteoblastic cell line hFOB, and different invasive subclones were evaluated by immunohistochemistry (IHC) or immunocytochemistry (ICC) and real-time reverse transcriptase-polymerase chain reaction (real-time qRT-PCR). Using in vitro functional assays, we analyzed the invasive and proliferative abilities of different osteosarcoma cell lines and subclones with differing invasive potential...
March 21, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28334704/combining-real-time-cold-and-mama-pcr-taqman-techniques-to-detect-and-quantify-r201-gnas-mutations-in-the-mccune-albright-syndrome%C3%A2
#2
Luisa de Sanctis, Ilaria Galliano, Paola Montanari, Patrizia Matarazzo, Daniele Tessaris, Massimiliano Bergallo
BACKGROUND/AIM: The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients. METHODS: Real-time COLD- and MAMA-PCR TaqMan techniques were combined to search for R201 mutations in the DNA of blood or affected tissues from 16 previously molecularly characterized MAS patients, from a further 84 subjects with MAS signs who were R201 negative at RFLP analysis, and from 36 controls...
March 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28330577/-custom-made-implant-for-complex-facial-reconstruction-a-case-of-total-replacement-of-temporo-mandibular-joint-zygomatic-arch-and-malar-bone
#3
D Guillier, V Moris, L-A See, M Girodon, B-L Wajszczak, N Zwetyenga
INTRODUCTION: Total prosthetic replacement of the temporo-mandibular joint (TMJ) has become a common procedure, but it is usually limited to the TMJ itself. We report about one case of complex prosthetic joint reconstruction extending to the neighbouring bony structures. CASE: A 57-year-old patient, operated several times for a cranio-facial fibrous dysplasia, presented with a recurring TMJ ankylosis and a complexe latero-facial bone loss on the right side. We performed a reconstruction procedure including the TMJ, the zygomatic arch and the malar bone by mean of custom made composite prosthesis (chrome-cobalt-molybdenum-titanium and polyethylene)...
February 2017: J Stomatol Oral Maxillofac Surg
https://www.readbyqxmd.com/read/28302454/craniofacial-fibrous-dysplasia-a-10-case-series
#4
A Couturier, O Aumaître, L Gilain, B Jean, T Mom, M André
OBJECTIVES: Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Fibrous dysplasia may be associated with café-au-lait skin macules and endocrinopathy in McCune-Albright syndrome, or with myxoma in Mazabraud's syndrome. METHODS: We report ten cases of patients followed up for craniofacial fibrous dysplasia in our center between 2010 and 2015...
March 14, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28301321/giant-parathyroid-adenoma-associated-with-severe-hypercalcemia-in-an-adolescent-patient
#5
Kinyas Kartal, Nurcihan Aygun, Mujdat Bankaoglu, Alper Ozel, Mehmet Uludag
BACKGROUND: The objective of this study is to bring attention to the importance of differential diagnosis in adolescent patients with skeletal involvement and hypercalcemia. CASE: A 17-year-old male patient with a complaint of severe leg pain was admitted to our hospital. Seven months before he had a fracture of his distal humerus after falling on to his left shoulder and was treated conservatively. Five months previously, he had a rupture of his quadriceps tendon...
March 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28300344/intramedullary-nailing-combined-with-bone-grafting-for-benign-lesions-of-the-proximal-femur
#6
Yan Zhang, Jia-Zhen Li, Xin-Chang Lu, Yi Zhang, Huai-Shuan Zhang, Hai-Long Shi, Zheng Lei, Guang Feng, Wei-Ping Fu
OBJECTIVE: To evaluate the effectiveness of intramedullary nailing for benign lesions of the proximal femur. METHOD: A retrospective analysis was carried out on 68 cases of benign lesions in the proximal femur at our hospital from April 2002 to April 2013 (38 men and 30 women). Mean age at surgery was 35.5 years (range, 22-56 years). The cases were divided into two groups: curettage of the lesion with bone grafting only as the grafting group (32 cases) and internal fixation after removal of the lesion as the fixation group (36 cases)...
March 16, 2017: Orthopaedic Surgery
https://www.readbyqxmd.com/read/28291218/-endoscopic-transnasal-surgery-for-giant-fibrous-dysplasia-of-the-skull-base-spreading-to-the-right-orbital-cavity-and-nasopharynx-a-case-report-and-literature-review
#7
A N Shkarubo, A Yu Lubnin, E Yu Bukharin, L V Shishkina, D N Andreev, K V Koval', I V Chernov, V V Karnaukhov
BACKGROUND: An extended endoscopic endonasal approach is increasingly used in surgical treatment of space-occupying skull base lesions. The international literature reports only 20 cases of surgical treatment for fibrous dysplasia (PD) of the skull base using the endoscopic endonasal approach. We present our experience with the endoscopic endonasal approach in surgical treatment for giant fibrous dysplasia of the skull base, spreading to the right orbital cavity and nasopharynx. CLINICAL CASE: A 26-year-old male patient presented with cranial pain, Vth nerve dysfunction on the right, right keratopathy...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/28289785/-incidental-findings-in-musculoskeletal-radiology
#8
F Wünnemann, C Rehnitz, M-A Weber
BACKGROUND: Increasing numbers of conventional X‑rays, computed tomography and magnetic resonance imaging in the inpatient, outpatient and scientific routine leads to an increasing number of incidental findings. The correct interpretation of these incidental findings with respect to the relevance and the evaluation concerning further work-up is an important task of radiologists. OBJECTIVE: Description of common incidental findings in musculoskeletal imaging and their clinical classification...
March 13, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28280662/avoiding-facial-incisions-with-midface-free-tissue-transfer
#9
Mark W Stalder, Michael Sosin, Leo J Urbinelli, James L Mayo, Amir H Dorafshar, Hugo St Hilaire, Daniel E Borsuk, Eduardo D Rodriguez
BACKGROUND: We have adopted an intraoral microsurgical anastomosis to the facial vessels to eliminate the need for any visible facial incisions. METHODS: Cadaveric dissection was used to demonstrate accessibility of the facial artery and vein through an intraoral approach. Additionally, 5 patients underwent free tissue transfer for reconstruction of major defects of the midface through an intraoral, transmucosal approach, obviating the need for visible skin incisions...
February 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28252420/metaphyseal-cortical-defect-and-tumor-like-processes-of-long-bones-a-literature-review-and-own-observations
#10
N Lysenko, Ye Sharmazanova, I Voronzhev, A Sorochan, Yu Kolomiychenko
Metaphyseal cortical defect (metaphyseal fibrous defect, cortical fibrous defect) of the long bones is a quite common variant of the bone structure's pathologic changes. The cortical defects and similar to their tumor-like processes (non-ossifying fibroma, benign fibrous histiocytoma etc.) are characterized by particular qualities of the clinical symptoms and radiologic signs. The aim of this article is to analyze a known literature data about cortical fibrous defects of long bones and similar to their tumor-like processes and present results of our own observations...
January 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28247078/congenital-double-level-cervical-spondylolysis-a-case-report-and-review-of-the-literature
#11
Norio Yamamoto, Takaaki Miki, Yoshihisa Nasu, Akihiro Nishiyama, Tomoyuki Dan'ura, Yuzuru Matsui, Toshifumi Ozaki
PURPOSE: We report a rare Japanese female who was affected with three genetic-linked diseases: double-level cervical bilateral spondylolysis in association with spina bifida occulta, cleft lip and monostotic fibrous dysplasia of the right proximal femur. The case was considered to be congenital in origin. We also review the pertinent literature of cervical spondylolysis, with a focus on the pathogenesis of multiple-level cervical spondylolysis. METHODS: A 40-year-old female presented with progressive clumsiness and numbness of the hands...
February 28, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28243882/improving-patient-outcomes-in-fibrous-dysplasia-mccune-albright-syndrome-an-international-multidisciplinary-workshop-to-inform-an-international-partnership
#12
A M Boyce, A Turner, L Watts, L Forestier-Zhang, A Underhill, R Pinedo-Villanueva, F Monsell, D Tessaris, C Burren, L Masi, N Hamdy, M L Brandi, R Chapurlat, M T Collins, Muhammad Kassim Javaid
To develop consensus on improving the management of patients, we convened an international workshop involving patients, clinicians, and researchers. Key findings included the diagnostic delay and variability in subsequent management with agreement to develop an international natural history study. We now invite other stakeholders to join the partnership. PURPOSE: The aim of this study was develop a consensus on how to improve the management of patients with fibrous dysplasia and prioritize areas for research METHODS: An international workshop was held over 3 days involving patients, clinicians, and researchers...
December 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28242980/hypothyroidism-in-mccune-albright-syndrome-and-role-of-bone-scan-in-management-of-fibrous-dysplasia-an-unusual-case-scenario-with-review-of-literature
#13
Narvesh Kumar, Subhash Chand Kheruka, Rani Kunti R Singh, Mudalsha Ravina, Deepanksha Dutta, Sanjay Gambhir
The McCune-Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible...
January 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28239886/fibrocartilaginous-mesenchymoma-of-bone-a-single-institution-experience-with-molecular-investigations-and-a-review-of-the-literature
#14
M Gambarotti, A Righi, D Vanel, S Cocchi, S Benini, F M Elli, G Mantovani, P Ruggieri, S Boriani, D Donati, M Sbaraglia, A P Dei Tos, P Picci
AIMS: Fibrocartilaginous mesenchymoma is a rare intraosseous lesion with a total of 25 cases described in the literature. This study describes the clinical, radiological, and histological features of eight new cases of fibrocartilaginous mesenchymoma collected at a single institution between 1982 and 2016. The presence of GNAS and IDH1/2 mutations and MDM2 amplification was explored to evaluate possible links between fibrocartilaginous mesenchymoma, fibrous dysplasia, dedifferentiated chondrosarcoma, and low-grade osteosarcoma...
February 26, 2017: Histopathology
https://www.readbyqxmd.com/read/28235628/denosumab-treated-giant-cell-tumor-of-bone-its-histologic-spectrum-and-potential-diagnostic-pitfalls
#15
Pablo Daniel Roitman, Federico Jauk, Germán Luis Farfalli, José Ignacio Albergo, Luis Alberto Aponte-Tinao
Giant cell tumor of bone (GCT) is a locally aggressive, rarely metastasizing primary bone neoplasm that occurs most frequently in the epiphysis of long bones of young adults. It is composed of round, oval or elongated mononuclear cells admixed with osteoclast-like giant cells that express receptor activator of nuclear factor- қB (RANK). The mononuclear stromal cells express RANK ligand (RANKL), a mediator of osteoclast activation. Denosumab, a monoclonal antibody that inhibits RANKL reducing tumor-associated bone lysis, has been used to treat selected cases of GCT...
February 21, 2017: Human Pathology
https://www.readbyqxmd.com/read/28231652/fibrous-dysplasia-in-the-epiphysis-of-the-distal-femur
#16
Jung Ho Noh, Jae Woo Lee
Fibrous dysplasia is a common benign skeletal lesion that may involve a single bone or multiple bones. Although fibrous dysplasia can affect any bone, monostotic fibrous dysplasia of the long bone typically occurs in the diaphysis or metaphysis. We report a very rare case of monostotic fibrous dysplasia involving the epiphysis of the distal femur in a young man.
March 1, 2017: Knee Surgery & related Research
https://www.readbyqxmd.com/read/28228794/prompt-clinical-and-biochemical-response-to-denosumab-in-a-young-adult-patient-with-craniofacial-fibrous-dysplasia
#17
Cristina Eller-Vainicher, Diego Sergio Rossi, Giuseppe Guglielmi, Giada Anna Beltramini, Elisa Cairoli, Antonio Russillo, Giovanna Mantovani, Anna Spada, Iacopo Chiodini
BACKGROUND: We report on the clinical and biochemical outcomes in a 20-year-old male suffering from active craniofacial monostotic fibrous dysplasia (MFD) of the left mandible treated with the RANK-L inhibitor, denosumab, following unsatisfactory responses to prior long-term bisphosphonates therapy. RESULTS: The patient had been treated over 9 years with pamidronate (cumulative dose of 810 mg) with incomplete control of pain. Following initiation of denosumab 60 mg subcutaneously, bone pain and bone turnover markers (osteocalcin, total and bone alkaline phosphatase and carboxy-terminal cross-linking telopeptide of type I collagen) were monitored over a 27 months period...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28228793/craniofacial-fibrous-dysplasia-report-of-a-case-with-diverse-radiological-spectrum
#18
Silky Rajesh Punyani, Saurabh Srivastava, Vishal Ramesh Jasuja
A young male of Asian-Indian ethnicity reported with a complaint of a painless, slow growing swelling over the left side of lower jaw. A thorough clinical history was taken and detailed radiological exam performed. The conventional radiographic examination revealed a mixed radiolucent-radiopaque lesion with unique appearances on different radiographs. Additional computed tomographic examination discovered the involvement of several bones in the skull base. Subsequent to histopathological confirmation a final diagnosis of craniofacial fibrous dysplasia was made...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28226381/recurrent-orbital-inflammation-due-to-fibrous-dysplasia
#19
Katarzna Malec, Jagoda Miszczyk, Pawel Brzewski, Pawel Dobosz, Olga Mielczarek
No abstract text is available yet for this article.
February 2017: Facial Plastic Surgery: FPS
https://www.readbyqxmd.com/read/28224215/-mazabraud-and-mccune-albright-syndromes-in-association-a-case-of-two-very-rare-orthopaedic-tumour-entities
#20
M Schwarze, M-A Weber, G Mechtersheimer, B Lehner, E K Renker
We report on a 47-year-old woman with unilateral fibrous dysplasia and three intramuscular masses. Medical imaging revealed possible intramuscular myxomas, so that the suspected diagnosis was Mazabraud syndrome. After biopsy, the suspected diagnosis was verified by histology and molecular pathology. Due to endocrine abnormalities in the patient's medical history, McCune-Albright syndrome has was also verified.
February 21, 2017: Der Orthopäde
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