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fibro osseous dysplasia

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https://www.readbyqxmd.com/read/29672904/growth-hormone-gh-insulin-like-growth-factor-1-igf-1-axis-hyperactivity-on-bone-fibrous-dysplasia-in-mccune-albright-syndrome
#1
Daniele Tessaris, Alison M Boyce, Margaret Zacharin, Patrizia Matarazzo, Roberto Lala, Luisa de Sanctis, Michael T Collins
CONTEXT: In fibrous dysplasia (BFD) normal bone and bone marrow are replaced by fibro-osseous tissue, leading to fracture, deformity and pain. BFD may be isolated, or in association with cutaneous hyperpigmentation and/or hyperfunctioning endocrinopathies, termed McCune-Albright syndrome (MAS). GH hypersecretion has been described in 10-20% of MAS-BFD patients. Aim of the study is to determine the impact of GH-insulin like growth factor 1 (IGF1) axis hyperactivity on MAS-BFD morbidities and the efficacy of GH excess therapy...
April 19, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29669177/mutations-that-alter-the-carboxy-terminal-propeptide-cleavage-site-of-the-chains-of-type-i-procollagen-are-associated-with-a-unique-osteogenesis-imperfecta-phenotype
#2
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29543677/fluorescent-in-situ-hybridization-for-tp53-in-the-diagnosis-of-pediatric-osteogenic-sarcoma
#3
Paula Marrano, Mary Shago, Gino R Somers, Paul S Thorner
Osteogenic sarcoma (OS) is the most common malignant bone tumor in children and adolescents. Despite advances in molecular genetic characterization of pediatric and adult tumors, the diagnosis of OS still depends almost entirely on light microscopy. The lack of consistent genetic changes in OS has greatly hindered the development of any diagnostic molecular test. Recently, whole-genome sequencing has shown that ~50% of cases of OS have a translocation involving the TP53 gene with breakpoints confined to the first intron...
March 14, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29496222/benign-fibro-osseous-lesion-of-the-mandible-in-a-middle-bronze-age-skeleton-from-southern-russia
#4
Julia Gresky, Alexey Kalmykov, Natalia Berezina
A discrete dysplastic lesion of the mandible found in a skeleton of a young adult male of the Middle Bronze Age in the Northern Caucasus/Russia is described. The periapical lesion of the right lower canine alveolus was examined by digital microscopy, plain radiology, and plain and polarizing microscopy. Its macroscopic, radiologic and microscopic characteristics are discussed in reference to different fibro-osseous lesions arising from the odontogenic apparatus and maxillofacial skeleton. Periapical osseous dysplasia was considered to be the most likely diagnosis...
March 2018: International Journal of Paleopathology
https://www.readbyqxmd.com/read/29488004/-the-activating-gnas-mutation-a-survey-of-fibrous-dysplasia-its-associated-syndromes-and-other-skeletal-and-extraskeletal-lesions
#5
REVIEW
H Ostertag, S Glombitza
Fibrous dysplasia of bone is a connatal but not hereditary disease with monostotic or polyostotic manifestations and may be associated either with the extraskeletal disease McCune-Albright syndrome or with myxoma of the skeletal muscle, termed Mazabraud syndrome.The confirmation of recurrent chromosomal aberrations may lead to the conclusion that fibrous dysplasia is a neoplasia rather than a dysplastic skeletal disease.The primary cause of all forms of the described diseases is the activating GNAS mutation, which is detectable in almost all lesions...
February 27, 2018: Der Pathologe
https://www.readbyqxmd.com/read/29484064/peripheral-osteoma-compound-odontoma-focal-cemento-osseous-dysplasia-and-cemento-ossifying-fibroma-in-the-same-hemimandible-cbct-findings-of-an-unusual-case
#6
Andrea Borghesi, Ingrid Tonni, Stefania Pezzotti, Roberto Maroldi
Peripheral osteoma is the most common subtype of osteoma that arises most frequently in the craniofacial bones. It may occur at any age with a male-to-female ratio of 2:1. Peripheral osteoma may affect the mandible, particularly the ramus and the condyle. Compound odontoma is a subtype of odontoma that occurs in young subjects without gender predilection. It affects the maxilla more frequently than the mandible. Focal cemento-osseous dysplasia and cemento-ossifying fibroma are 2 benign fibro-osseous lesions with a female predominance that occur most commonly in the posterior region of the mandible...
December 2017: Radiology Case Reports
https://www.readbyqxmd.com/read/29434178/a-case-series-of-fibro-osseous-lesions-of-the-jaws
#7
Masaya Akashi, Kenji Matsuo, Manabu Shigeoka, Yasumasa Kakei, Takumi Hasegawa, Akira Tachibana, Shungo Furudoi, Takahide Komori
The aim of this case series was to reveal the difficulties in diagnosing fibro-osseous lesions with radiological and histopathological examinations and quantify the potential risk of infection to fibro-osseous legions. To analyze the concordance between radiological and histopathological diagnoses, this retrospective case series included patients who were clinically diagnosed with fibro-osseous lesions via radiological findings and excluded the patients who did not undergo histopathological examinations. This study also included the patients in whom histopathological results confirmed fibro-osseous legions when preoperative radiological diagnosis did not include fibro-osseous legions...
December 18, 2017: Kobe Journal of Medical Sciences
https://www.readbyqxmd.com/read/29404238/fibro-osseous-lesions-of-the-skull-base-in-the-pediatric-population
#8
REVIEW
Meghan Wilson, Carl Snyderman
Fibro-osseous lesions of the skull base include a variety of lesions with different biologic behavior. The most common lesions include fibrous dysplasia, osteoma, aneurysmal bone cyst, and juvenile ossifying fibroma. The diagnosis can usually be established with radiographic imaging. In the absence of symptoms, slow-growing lesions can often be observed. When surgery is indicated for relief of symptoms, endoscopic endonasal techniques are well suited for all age groups.
February 2018: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/29335001/different-clinical-presentation-and-management-of-temporal-bone-fibrous-dysplasia-in-children
#9
REVIEW
Józef Mierzwiński, Justyna Kosowska, Justyna Tyra, Karolina Haber, Maria Drela, Dariusz Paczkowski, Paweł Burduk
BACKGROUND: Fibrous dysplasia is a slowly progressive benign fibro-osseous disorder that involves one or multiple bones with a unilateral distribution in most cases. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Temporal bone involvement is the least frequently reported type, especially in children. We reviewed available articles regarding fibrous dysplasia with temporal bone involvement in children and added four patients aged 7 to 17 years who were diagnosed and treated in our institution from 2006 to 2017...
January 15, 2018: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29284472/differentiating-early-stage-florid-osseous-dysplasia-from-periapical-endodontic-lesions-a-radiological-based-diagnostic-algorithm
#10
Victor Daviet-Noual, Anne-Laure Ejeil, Charles Gossiome, Nathan Moreau, Benjamin Salmon
BACKGROUND: Osseous dysplasia (OD) is the most common fibro-osseous lesion of the jaw affecting the periapical region. Early stages of OD can resemble periapical radiolucencies, thus mimicking the radiological aspects of an endodontic pathology. Such radiolucent lesions affecting previously decayed or treated teeth are even more complex to interpret. CASE PRESENTATION: The aim of this paper is to report a case-series of representative clinical situations describing the radiological features and illustrating the diagnostic workup of patients with florid osseous dysplasia (FOD)...
December 28, 2017: BMC Oral Health
https://www.readbyqxmd.com/read/29218289/craniofacial-fibrous-dysplasia-of-zygomaticomaxillary-complex
#11
Kumar Nilesh, Prashant Punde, M I Parkar
Fibrous dysplasia is a benign bone disease first described by Lichtenstein in 1938. It is characterized by progressive replacement of normal bone with fibro-osseous connective tissue. When the disease involves craniofacial skeleton, it results in significant disfigurement and other functional problems. This paper reports a case of large craniofacial fibrous dysplasia involving zygomaticomaxillary complex in a 24-year old male patient. Clinical presentation and imaging characteristics of the pathology is discussed in detail...
September 2017: World Journal of Plastic Surgery
https://www.readbyqxmd.com/read/29192304/association-of-hearing-loss-and-otologic-outcomes-with-fibrous-dysplasia
#12
Alison M Boyce, Carmen Brewer, Timothy R DeKlotz, Christopher K Zalewski, Kelly A King, Michael T Collins, H Jeffrey Kim
Importance: Fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) are rare bone and endocrine disorders in which expansile fibro-osseous lesions result in deformity, pain, and functional impairment. The effect of FD on hearing and otologic function has not been established. Objectives: To characterize audiologic and otologic manifestations in a large cohort of individuals with FD/MAS and to investigate potential mechanisms of hearing loss. Design, Setting, and Participants: In this natural history study, individuals with craniofacial FD seen at a clinical research center underwent clinical, biochemical, computed tomographic, audiologic, and otolaryngologic evaluations...
February 1, 2018: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29175271/gnathodiaphyseal-dysplasia-severe-atypical-presentation-with-novel-heterozygous-mutation-of-the-anoctamin-gene-ano5
#13
Ghada A Otaify, Michael P Whyte, Gary S Gottesman, William H McAlister, J Eric Gordon, Abby Hollander, Marisa V Andrews, Samir K El-Mofty, Wei-Shen Chen, Deborah V Veis, Marina Stolina, Albert S Woo, Panagiotis Katsonis, Olivier Lichtarge, Fan Zhang, Marwan Shinawi
Gnathodiaphyseal dysplasia (GDD; OMIM #166260) is an ultra-rare autosomal dominant disorder caused by heterozygous mutation in the anoctamin 5 (ANO5) gene and features fibro-osseous lesions of the jawbones, bone fragility with recurrent fractures, and bowing/sclerosis of tubular bones. The physiologic role of ANO5 is unknown. We report a 5-year-old boy with a seemingly atypical and especially severe presentation of GDD and unique ANO5 mutation. Severe osteopenia was associated with prenatal femoral fractures, recurrent postnatal fractures, and progressive bilateral enlargement of his maxilla and mandible beginning at ~2months-of-age that interfered with feeding and speech and required four debulking operations...
February 2018: Bone
https://www.readbyqxmd.com/read/29157551/fibro-osseous-and-other-lesions-of-bone-in-the-jaws
#14
REVIEW
Mansur Ahmad, Laurence Gaalaas
Fibroosseous lesions in the jaws have similar histologic and radiographic features. Despite their similarity, management varies significantly. In this article, common fibroosseous lesions and key radiographic features are described. Many of the fibroosseous lesions are diagnosed radiographically, without performing histologic examinations. For some of the fibroosseous lesions, for example, periapical osseous dysplasia, histologic examination is contraindicated. Cherubism and fibrous dysplasia have specific radiographic findings; these conditions can be diagnosed radiographically...
January 2018: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/29125822/liposclerosing-myxofibrous-tumor-a-rare-tumor-of-proximal-femur
#15
Ozan Beytemür, Ümit Seza Tetikkurt, Cem Albay, Gonca Kavşut, Akif Güleç
Liposclerosing myxofibrous tumor is a very rarely observed benign fibro-osseous lesion, which contains complex histological structures. It was first described in the year 1986. Histopathological examination of the lesion may show myxoid areas, osteoclastic activity, bone trabeculae similar to fibrous dysplasia, fat necrosis, ischemic ossification and rarely cartilage components. This lesion, which is particularly localized to the proximal femur, is thought to be associated with fibrous dysplasia. In this case report, we aim to present a liposclerosing myxofibrous tumor case, which was treated surgically, in light of the literature review...
December 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/29071359/bone-marrow-failure-and-extramedullary-hematopoiesis-in-mccune-albright-syndrome
#16
C Robinson, A M Boyce, A Estrada, D E Kleiner, R Mathew, R Stanton, H Frangoul, M T Collins
In fibrous dysplasia/McCune-Albright syndrome (FD/MAS), bone and bone marrow are, to varying degrees, replaced by fibro-osseous tissue typically devoid of hematopoietic marrow. Despite the extensive marrow replacement in severely affected patients, bone marrow failure is not commonly associated with FD/MAS. We present a 14-year-old girl with FD/MAS, who developed pancytopenia and extramedullary hematopoiesis (EMH) with no identified cause, in the setting of iatrogenic thyrotoxicosis and hyperparathyroidism...
January 2018: Osteoporosis International
https://www.readbyqxmd.com/read/28966816/natural-history-of-cranial-fibrous-dysplasia-revealed-during-long-term-follow-up-case-report-and-literature-review
#17
David L Penn, Richard J Tartarini, Carolyn H Glass, Umberto De Girolami, Amir A Zamani, Ian F Dunn
BACKGROUND: Fibrous dysplasia (FD) is a rare developmental disease characterized by the replacement of bone marrow with proliferating fibro-osseous tissue. There exist three forms of FD-monostotic, polyostotic, and that associated with McCune-Albright syndrome. The disease can present in different locations and with a variety of symptoms. One of the more common locations of FD occurrence is the craniofacial region. Treatment of asymptomatic FD often involves conservative management with serial imaging...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28761541/post-traumatic-fibrous-dysplasia-of-the-parietal-bone-a-rare-entity
#18
Muhammad Sohail Umerani, Saqib Kamran Bakhshi, Asad Abbas, Salman Sharif, Sidra Arshad
Fibrous dysplasia (FD) is a rare fibro-osseous lesion in which normal bone is replaced by abnormal fibrous tissue. Although a congenital disorder, a single case report of traumatic etiology had been described in the literature. We report a case of monostotic FD of the parietal calvarium in a 21-year-old female patient who presented to us with a single swelling in the parietal region been noticed after head injury sustained at the age of 7 years. After imaging investigations, the lesion was excised via craniotomy followed by cranioplasty in the same sitting...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28738834/the-value-of-99m-tc-methylene-diphosphonate-single-photon-emission-computed-tomography-computed-tomography-in-diagnosis-of-fibrous-dysplasia
#19
Linqi Zhang, Qiao He, Wei Li, Rusen Zhang
BACKGROUND: Fibrous dysplasia (FD) is a rare benign bone disorder in which the normal bone is replaced by immature fibro-osseous tissue. However, some case reports have reported that FD showed significantly increased (99m)Tc-methylene diphosphonate ((99m)Tc-MDP) uptake on whole-body bone scintigraphy (WBS), which may mimic bone metastasis or skeletal involvement of the patients with known cancer. Thus, the purpose of present study is to observe the reliable characteristics and usefulness of single photon emission computed tomography/computed tomography (SPECT/CT) for the diagnosis of FD...
July 24, 2017: BMC Medical Imaging
https://www.readbyqxmd.com/read/28674741/new-tumour-entities-in-the-4th-edition-of-the-world-health-organization-classification-of-head-and-neck-tumours-odontogenic-and-maxillofacial-bone-tumours
#20
REVIEW
Paul M Speight, Takashi Takata
The latest (4th) edition of the World Health Organization Classification of Head and Neck tumours has recently been published with a number of significant changes across all tumour sites. In particular, there has been a major attempt to simplify classifications and to use defining criteria which can be used globally in all situations, avoiding wherever possible the use of complex molecular techniques which may not be affordable or widely available. This review summarises the changes in Chapter 8: Odontogenic and maxillofacial bone lesions...
July 3, 2017: Virchows Archiv: An International Journal of Pathology
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