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Fibrous dysplasia

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
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
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
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
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...
October 12, 2016: Clinical Nuclear Medicine
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)...
October 11, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Chang-Chih Chen, Yu-Jang Su
No abstract text is available yet for this article.
October 3, 2016: Journal of Emergency Medicine
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
Bas C J Majoor, Natasha M Appelman-Dijkstra, M Fiocco, Michiel A J van de Sande, P D Sander Dijkstra, Neveen A T Hamdy
INTRODUCTION: 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 favourably 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. METHODS: We evaluated the biochemical (bone turnover markers; BTMs) and clinical (pain reduction) outcome of bisphosphonate therapy in eleven patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range 2-25)...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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
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
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
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
Elnur Alizade, Mahmut Yesin, Mehmet Vefik Yazicioğlu, Ekrem Bilal Karaayvaz, Adem Atici, Şükrü Arslan, Anıl Avci, Göksel Acar, Mustafa Tabakci, Servet Izci, Selçuk Pala
BACKGROUND: Arrhythmogenic right ventricular dysplasia (ARVD) is characterized by progressive replacement of ventricular myocytes with variable amounts of fibrous and adipose tissue. Several studies have suggested that the interval from the peak to the end of the electrocardiographic T wave (Tp-e) may correspond to the transmural dispersion of repolarization and that increased Tp-e interval and Tp-e/QT ratio are associated with malignant ventricular arrhythmias. The aim of this study was to evaluate repolarization dispersion measured from the 12-lead surface electrocardiogram (including Tp-e interval, Tp-e/QT, and Tp-e/QTc ratio) in asymptomatic ARVD patients METHODS: We selected 27 patients with asymptomatic ARVD and 27 age- and gender-match young, healthy volunteers...
March 28, 2016: Annals of Noninvasive Electrocardiology
Yu-Gang Wang, Xiu-Guo Han, Ying Yang, Han Qiao, Ke-Rong Dai, Qi-Ming Fan, Ting-Ting Tang
The endocrine role of the skeleton-which is impaired in human diseases including osteoporosis, obesity and diabetes-has been highlighted previously. In these diseases, the role of AMPK, a sensor and regulator of energy metabolism, is of biological and clinical importance. Since AMPK's main catalytic subunit α has two isoforms, it is unclear whether functional differences between them exist in the skeletal system. The current study overexpressed AMPKα1 and α2 in MC3T3-E1 cells, primary osteoblasts and mouse BMSCs by lentiviral transduction...
2016: Scientific Reports
Elnur Alizade, Mahmut Yesin, Mehmet Mustafa Tabakci, Anıl Avci, Mustafa Bulut, Göksel Acar, Zeki Şimşek, Servet Izci, Süleyman Barutçu, Selçuk Pala
BACKGROUND: Arrhythmogenic right ventricular dysplasia (ARVD) is characterized by the progressive replacement of ventricular myocytes with variable amounts of fibrous and adipose tissue. Several studies have suggested that speckle tracking echocardiographic (STE) parameters such as strain (S) and strain rate (SR) may prove useful in the early detection of right ventricular (RV) dysfunction. Therefore, the aim of this study was to evaluate RV myocardial function using the STE method in both asymptomatic and symptomatic patients with ARVD and to assess its potential role in the differential diagnosis of these two presentations...
September 7, 2016: Echocardiography
E Moretti, N A Pascarelli, G Belmonte, T Renieri, G Collodel
Spermatozoa with a rare combination of two monomorphic sperm defects, dysplasia of the fibrous sheath (DFS) and alterations in head-mid-piece junction were analysed. The main focus was to explore the status of the centriole, a key organisation during fertilisation, using the centrin 1, a calcium-binding protein linked to this structure. The sperm quality was examined by light, scanning and transmission electron microscopy (SEM, TEM); immunocytochemistry was performed for tubulin, A-kinase anchor protein 4 (AKAP4) and centrin 1...
September 5, 2016: Andrologia
Scott Shapiro, Adam Cassis
No abstract text is available yet for this article.
September 1, 2016: JAMA Otolaryngology—Head & Neck Surgery
Xiangshui Sun, Yue Lou, Xiaodong Wang
Iliac bone destruction in children is uncommon and presents various imaging features. Correct diagnosis based on clinical and imaging features is difficult. This research aimed to retrospectively explore the clinical features, imaging, and histopathological diagnosis of children with iliac bone destruction. A total of 22 children with iliac bone destruction were enrolled in this retrospective analysis from two children's hospitals during July 2007 to April 2015. Clinical features, imaging, and histopathological findings were analysed...
2016: BioMed Research International
Agustina Sosa Beláustegui, Daniela Tolosa Koury, Esteban Bercellini, Silvana Saldaña, Bárbara Rellan, Patricia Aruj
No abstract text is available yet for this article.
2016: Medicina
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