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Fibrous dysplasia

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https://www.readbyqxmd.com/read/27922965/prevalence-of-different-forms-and-involved-bones-of-craniofacial-fibrous-dysplasia
#1
Liya Yang, Huanhuan Wu, Jianjian Lu, Li Teng
BACKGROUND: The purposes of this study were to analyze the prevalence of various craniofacial bones involved in patients with craniofacial fibrous dysplasia (CFD) and to demonstrate the most common form and bone involvement in patients with CFD for surgeons. METHODS: To address the research purpose, the authors designed and performed a systematic review with meta-analysis. A comprehensive electronic search without date was performed in August 2013. Data extracted from the previously published literature were analyzed with STATA 11...
December 5, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27922893/craniofacial-fibrous-dysplasia-retrospective-study-on-the-relationship-between-the-tumor-volume-changes-and-the-circulating-serum-calcitonin-and-serum-alkaline-phosphatase
#2
Mohammed Ahmed Hussein, In Sik Yun, Bo Ok Kim, Yong Oock Kim
BACKGROUND: The purpose of this study was to determine the usefulness of serum alkaline phosphatase (ALP) and calcitonin in the follow-up of tumor volume changes in patients with craniofacial fibrous dysplasia. METHODS: Twenty patients with isolated craniofacial fibrous dysplasia were included, who met our criteria for long-term follow-up. Three-dimensional computed tomography scans were obtained, and tumor segmentation was performed. The tumor volume was measured preoperatively, immediate postoperative and during long-term follow-up...
December 5, 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/27894323/health-related-quality-of-life-and-a-cost-utility-simulation-of-adults-in-the-uk-with-osteogenesis-imperfecta-x-linked-hypophosphatemia-and-fibrous-dysplasia
#3
Lydia Forestier-Zhang, Laura Watts, Alison Turner, Harriet Teare, Jane Kaye, Joe Barrett, Cyrus Cooper, Richard Eastell, Paul Wordsworth, Muhammad K Javaid, Rafael Pinedo-Villanueva
BACKGROUND: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease. RESULTS: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016...
November 28, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27871237/a-unique-association-of-arrhythmogenic-right-ventricular-dysplasia-and-acute-myocarditis-as-assessed-by-cardiac-mri-a-case-report
#4
Andrea Ponsiglione, Marta Puglia, Carmine Morisco, Luigi Barbuto, Antonio Rapacciuolo, Mario Santoro, Letizia Spinelli, Bruno Trimarco, Alberto Cuocolo, Massimo Imbriaco
BACKGROUND: Arrhythmogenic right ventricular dysplasia (ARVD), is a genetic disorder of the heart, which mainly involves the right ventricle. It is characterized by hypokinetic areas at the free wall of the right ventricle (RV) or both ventricles, where myocardium is replaced by fibrous or fatty tissue. ARVD is an important cause of ventricular arrhythmias in children and young adults. Although the transmission of the disease is based on hereditary, in young adults it may not show any symptoms...
November 21, 2016: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/27857528/mccune-albright-syndrome-association-of-fibrous-dysplasia-caf%C3%A3-au-lait-skin-spots-and-hyperthyroidism-case-report
#5
Iulian Raus, Roxana Elena Coroiu
McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27826699/a-unique-case-of-multiple-non-ossifying-fibromas-with-polyostotic-monomelic-distribution-and-aggressive-clinical-course
#6
Alessandro Corsi, Cristina Remoli, Mara Riminucci, Ernesto Ippolito, John Dimitriou
Multiple non-ossifying fibromas (MNOFs) occur either isolated or in association with other anomalies, are usually localized in the long bones of the lower limbs, may be radiographically confused with other skeletal lesions, and tend to heal spontaneously with the completion of the skeletal growth. Segmental distribution, either monomelic or polymelic and ipsilateral, is rare and commonly observed in the context of developmental diseases known as "RASopathies", which are caused by mutations in genes that encode components or regulators within the Ras/mitogen-activated protein kinase signaling pathway...
November 8, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27825664/-florid-osseous-dysplasia-management-of-a-symptomatic-case
#7
M Maccotta, L Radoï
INTRODUCTION: Florid osseous dysplasia is a rare and benign fibro-osseous pathology, in which bone is replaced by fibrous tissue and metaplastic bone. It can remain asymptomatic for a long time and is most often discovered incidentally during a radiological examination. Sometimes, patients are seen because of an infectious complication. OBSERVATION: An edentulous 62 years-old woman was referred for a painful mandibular swelling preventing insertion of her removable denture...
December 2016: Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale
https://www.readbyqxmd.com/read/27774356/ewing-sarcoma-of-the-pelvis-with-an-atypical-radiographic-appearance-a-mimicker-of-non-malignant-etiologies
#8
Miguel Flores, Anthony Caram, Edward Derrick, John D Reith, Laura Bancroft, Kurt Scherer
Ewing sarcoma (ES) is a primary malignant bone tumor which most commonly arises in children and young adults. The common clinical presentation with ES includes nighttime pain or pain related to activity, though patients may also present with a combination of localized swelling, a palpable mass, pathologic fracture, and constitutional symptoms. Clinical diagnosis may be delayed when a patient presents with clinical or imaging findings that overlap with non-malignant etiologies, such as fibrous dysplasia (FD) or osteomyelitis...
September 18, 2016: Curēus
https://www.readbyqxmd.com/read/27771377/malignant-transformation-of-polyostotic-fibrous-dysplasia-with-aberrant-keratin-expression
#9
Riyam T Zreik, Laurel A Littrell, Long Jin, Andre M Oliveira, Karen J Fritchie
Malignant transformation of fibrous dysplasia (FD) is exceedingly rare, occurring in <1% of all FD cases, and has been described in both monostotic and polyostotic forms of this entity. We report a case of a large proximal femur mass arising in a 45-year-old man. The biopsy revealed a high-grade pleomorphic malignancy that focally expressed multiple keratins. Based on the presence of keratin immunoreactivity, the morphologic differential diagnosis included metastatic sarcomatoid carcinoma. However, review of the clinical information revealed a history of polyostotic FD, and imaging findings were compatible with malignant transformation of FD...
October 19, 2016: Human Pathology
https://www.readbyqxmd.com/read/27765282/-fibrous-dysplasia-clinical-review-and-therapeutic-management
#10
Helena Florez, Pilar Peris, Núria Guañabens
Fibrous dysplasia is a skeletal disorder that is associated with a wide spectrum of clinical manifestations, including localized asymptomatic forms and extensive severe forms with severe bone deformities and endocrinological alterations, depending on age, location, extent and associated processes. Although the treatment of choice is based on bisphosphonates, the therapeutic efficacy of these agents in the control of disease activity remains uncertain. This article reviews the current data available on the treatment of this disease as well as the preliminary data on new therapeutic approaches...
October 17, 2016: Medicina Clínica
https://www.readbyqxmd.com/read/27747122/use-of-zoledronic-acid-in-paediatric-craniofacial-fibrous-dysplasia
#11
Chiara Di Pede, Sabrina Congedi, Sara Rossin, Antuan Divisic, Alesandra De Gregorio, Caterina Agosto, Igor Catalano, Alessandro Mazza, Leonardo Sartori, Stefano Masiero, Franca Benini
We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD) with severe and chronic pain who was successfully treated with zoledronic acid (ZOL): a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population.
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27740949/polyostotic-fibrous-dysplasia-in-mccune-albright-syndrome-demonstrated-on-68ga-dotatate-pet-ct
#12
Grace Hennessy, Deepa Shetty, Han Loh, Chuong Bui, Ken Le, Robert Mansberg
A 33-year-old woman with McCune-Albright syndrome was referred for a Ga-DOTATATE PET/CT study for evaluation and staging of a biopsy-proven pancreatic tail neuroendocrine tumor. The scan demonstrated intense focal octreopeptide uptake corresponding to the known neuroendocrine tumor at the pancreatic tail/splenic hilum. There was no evidence of octreopeptide-avid metastases. Diffuse octreopeptide uptake was demonstrated in multiple bones involving the right side of the skeleton. The concurrent CT demonstrated corresponding expansile lucent changes consistent with the known fibrous dysplasia...
December 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27728928/bone-abnormalities-in-mice-with-protein-kinase-a-pka-defects-reveal-a-role-of-cyclic-amp-signaling-in-bone-stromal-cell-dependent-tumor-development
#13
S Liu, J M Shapiro, E Saloustros, C A Stratakis
Protein kinase A (PKA) is an important enzyme for all eukaryotic cells. PKA phosphorylates other proteins, thus, it is essential for the regulation of many diverse cellular functions, including cytoplasmic trafficking and signaling, organelle structure and mitochondrial oxidation, nuclear gene expression, the cell cycle, and cellular division. The PKA holoenzyme is composed of 2 regulatory and 2 catalytic subunits. Four regulatory (R1α, R1β, R2α, and R2β) and 4 catalytic subunits (Cα, Cβ, Cγ, and Prkx) have been identified, giving rise to mainly PKA-I (when the 2 regulatory subunits are either R1α or R1β), or PKA-II (when the 2 regulatory subunits are either R2α or R2β)...
November 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27712894/rib-fibrous-dysplasia-mimicking-extrapleural-hematoma
#14
Chang-Chih Chen, Yu-Jang Su
No abstract text is available yet for this article.
December 2016: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27702404/-fibrous-dysplasia-a-heterogeneous-disease
#15
B C J Majoor, N M Appelman-Dijkstra, M A J van de Sande, H M Kroon, N A T Hamdy, P D S Dijkstra
Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Second, a 25-year-old man with polyostotic disease of the left leg who received both surgical and medical treatment...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27649526/outcome-of-long-term-bisphosphonate-therapy-in-mccune-albright-syndrome-and-polyostotic-fibrous-dysplasia
#16
Bas Cj Majoor, Natasha M Appelman-Dijkstra, Martha Fiocco, Michiel Aj van de Sande, Pd Sander Dijkstra, Neveen At Hamdy
McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies, and café-au-lait patches. FD patients have been shown to respond favorably to treatment with bisphosphonates, but data are scarce in the more severe polyostotic form (PFD), including MAS, and factors determining treatment outcome are not known, particularly in the long-term. We evaluated the biochemical (bone turnover markers [BTMs]) and clinical (pain reduction) outcome of bisphosphonate therapy in 11 patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range, 2 to 25 years)...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27646893/-significance-of-satb2-in-the-pathologic-diagnosis-of-osteosarcoma
#17
M Li, Y P Cai, K Y Lu, Y Chen, X Zhu, Y Yin, J Tang
Objective: To investigate the role of SATB2 in the pathological diagnosis and differential diagnosis of osteosarcoma. Methods: Immunostaining of SATB2 was performed in 47 cases of osteosarcomas, 5 osteoblastomas, 4 fibrous dysplasias, 5 myositis ossificans, 10 chondroblastomas, 8 chondrosarcomas, 5 Ewing sarcomas, 5 undifferentiated pleomorphic sarcomas, 6 fibrosarcomas and 2 leiomyosarcomas. Results: All osteoblastomas (5/5) and myositis ossificans (5/5), 83.0%(39/47) of osteosarcomas and 2/10 of chondroblastomas showed nuclear immunoreactivity for SATB2...
September 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/27646511/an-unusual-cause-of-neonatal-hip-dislocation-infantile-myofibromatosis-presenting-as-developmental-dysplasia-of-the-hip
#18
Timothy Woo, Thuzar Win
INTRODUCTION: Infantile myofibromatosis (IM) is a rare paediatric fibrous tumour also known as a desmoid tumour that occurs in around 1:150000 live births. It manifests as solitary or multicentric fibrous masses in the musculoaponeurotic soft tissues and can affect the visceral organs and bones. CASE DISCUSSION: We report a case of infantile myofibromatosis of the gluteus maximus muscle in an 18-day old neonate presenting atypically as a case of developmental dysplasia of the hip due to local involvement of the sciatic nerve...
September 7, 2016: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/27617807/orbitocranial-fibrous-dysplasia-outcome-of-radical-resection-and-immediate-reconstruction-with-titanium-mesh-and-pericranial-flap
#19
Khalid Nasser Fadle, Ahmed Gaber Hassanein, Abdin K Kasim
INTRODUCTION: Fibrous dysplasia (FD) is a non-neoplastic developmental fibro-osseous disease. It represents 2.5% of all bone tumors and 5% to 7% of the benign bone tumors. Orbitocranial region is involved in about 20% of the patients. The main presentations are craniofacial deformity and headache. Loss of vision is the most devastating result of this disease. There is no medical treatment to cure or prevent FD. Radiation therapy is contraindicated. Surgery for the orbitocranial FD is often challenging because of the proximity of neurovascular and ocular structures...
September 9, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27614159/pro-fibrotic-effects-of-pfkfb4-mediated-glycolytic-reprogramming-in-fibrous-dysplasia
#20
Mi-Ok Lee, Chae Hwa You, Mi-Young Son, Young-Dae Kim, Hyejin Jeon, Jae-Suk Chang, Yee Sook Cho
Fibrous dysplasia (FD) caused by a mosaic somatic mutation of GNAS is characterized by replacement of the affected bone with abnormal fibrous tissue. Herein, we present novel disease models for FD developed with pairs of isogenic wild-type and GNAS(R201H)-mutated induced pluripotent stem cells (iPSCs) and their derivative mesenchymal stem cells (MSCs). Both 2D and 3D MSC culture models for FD successfully reflect FD's typical molecular characteristics, such as enhanced cAMP level, PKA activity, CREB1 phosphorylation and the pathologic fibrotic phenotype...
November 2016: Biomaterials
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