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1.
PLoS One ; 15(1): e0227279, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31999703

RESUMO

Fibrous dysplasia (FD) of bone is a complex disease of the skeleton caused by dominant activating mutations of the GNAS locus encoding for the α subunit of the G protein-coupled receptor complex (Gsα). The mutation involves a substitution of arginine at position 201 by histidine or cysteine (GsαR201H or R201C), which leads to overproduction of cAMP. Several signaling pathways are implicated downstream of excess cAMP in the manifestation of disease. However, the pathogenesis of FD remains largely unknown. The overall FD phenotype can be attributed to alterations of skeletal stem/progenitor cells which normally develop into osteogenic or adipogenic cells (in cis), and are also known to provide support to angiogenesis, hematopoiesis, and osteoclastogenesis (in trans). In order to dissect the molecular pathways rooted in skeletal stem/progenitor cells by FD mutations, we engineered human skeletal stem/progenitor cells with the GsαR201C mutation and performed transcriptomic analysis. Our data suggest that this FD mutation profoundly alters the properties of skeletal stem/progenitor cells by pushing them towards formation of disorganized bone with a concomitant alteration of adipogenic differentiation. In addition, the mutation creates an altered in trans environment that induces neovascularization, cytokine/chemokine changes and osteoclastogenesis. In silico comparison of our data with the signature of FD craniofacial samples highlighted common traits, such as the upregulation of ADAM (A Disintegrin and Metalloprotease) proteins and other matrix-related factors, and of PDE7B (Phosphodiesterase 7B), which can be considered as a buffering process, activated to compensate for excess cAMP. We also observed high levels of CEBPs (CCAAT-Enhancer Binding Proteins) in both data sets, factors related to browning of white fat. This is the first analysis of the reaction of human skeletal stem/progenitor cells to the introduction of the FD mutation and we believe it provides a useful background for further studies on the molecular basis of the disease and for the identification of novel potential therapeutic targets.


Assuntos
Células da Medula Óssea/fisiologia , Diferenciação Celular/genética , Cromograninas/genética , Displasia Fibrosa Óssea/patologia , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Células-Tronco/fisiologia , Proteínas ADAM/metabolismo , Adipogenia/genética , Tecido Adiposo Branco/metabolismo , Proteínas Estimuladoras de Ligação a CCAAT/metabolismo , Células Cultivadas , Cromograninas/metabolismo , Simulação por Computador , Nucleotídeo Cíclico Fosfodiesterase do Tipo 7/metabolismo , Conjuntos de Dados como Assunto , Displasia Fibrosa Óssea/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/metabolismo , Mutação com Ganho de Função , Perfilação da Expressão Gênica , Voluntários Saudáveis , Humanos , Análise de Sequência com Séries de Oligonucleotídeos , Osteoblastos/metabolismo , Osteogênese/genética , Cultura Primária de Células , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Células Estromais/fisiologia , Regulação para Cima
2.
Virchows Arch ; 476(1): 159-174, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31838586

RESUMO

According to the WHO, mesenchymal tumours of the maxillofacial bones are subdivided in benign and malignant maxillofacial bone and cartilage tumours, fibro-osseous and osteochondromatous lesions as well as giant cell lesions and bone cysts. The histology always needs to be evaluated considering also the clinical and radiological context which remains an important cornerstone in the classification of these lesions. Nevertheless, the diagnosis of maxillofacial bone tumours is often challenging for radiologists as well as pathologists, while an accurate diagnosis is essential for adequate clinical decision-making. The integration of new molecular markers in a multidisciplinary diagnostic approach may not only increase the diagnostic accuracy but potentially also identify new druggable targets for precision medicine. The current review provides an overview of the clinicopathological and molecular findings in maxillofacial bone tumours and discusses the diagnostic value of these genetic aberrations.


Assuntos
Ossos Faciais/patologia , Neoplasias Maxilares/patologia , Neoplasias Cranianas/patologia , Condrossarcoma/genética , Condrossarcoma/patologia , Displasia Fibrosa Óssea/genética , Displasia Fibrosa Óssea/patologia , Granuloma de Células Gigantes/patologia , Humanos , Neoplasias Maxilares/diagnóstico , Neoplasias Maxilares/genética , Neoplasias Cranianas/diagnóstico , Neoplasias Cranianas/genética
3.
JBJS Case Connect ; 9(4): e0411, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31876524

RESUMO

CASE: A 64-year-old man diagnosed with prostate cancer was incidentally found to have a lesion in his distal femur. Although initially concerning for metastatic prostate cancer, after biopsy by an orthopaedic oncology specialist, a diagnosis of liposclerosing myxofibrous tumor (LSMFT) was confirmed. The lesion was treated with curettage and demineralized bone matrix grafting with close follow-up. CONCLUSIONS: This case report illustrates that LSMFT is not confined to the proximal femur and highlights the differences in radiographic appearance between LSMFT and more common metastatic bone lesions.


Assuntos
Neoplasias Femorais/diagnóstico por imagem , Displasia Fibrosa Óssea/diagnóstico por imagem , Neoplasias de Tecido Fibroso/diagnóstico por imagem , Neoplasias Femorais/patologia , Fêmur/patologia , Displasia Fibrosa Óssea/patologia , Humanos , Achados Incidentais , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Fibroso/patologia , Neoplasias da Próstata , Imagem Corporal Total
4.
J Radiol Case Rep ; 13(2): 26-33, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31565169

RESUMO

Fibrous Dysplasia is a benign fibro-osseous lesion occurring throughout the skeletal system with a predilection for craniofacial bones, long bones, and ribs. Fibrous dysplasia develops during bone formation and growth with a variable natural evolution. It is considered a genetic nonheritable disease resulting from missense mutations that occur postzygotically in the GNAS1 gene. This mutation leads to a focal congenital failure of proper bone formation and arrest at the woven bone stage. In turn, this leads to a decreased mechanical strength, causing bone pain, pathological fractures, and skeletal deformities. Besides clinical examination, fibrous dysplasia is diagnosed based on the results of radiographic imaging and the microscopic histopathological findings. On CT scan, fibrous dysplasia shows the characteristic "Ground-glass" appearance with well-defined borders. On MRI, fibrous dysplasia has a low signal intensity on T1-weighted MRI and variable signal intensity on T2-weighted MRI. We hereby report a case of an unusual presentation of fibrous dysplasia in a 67-year-old female presenting to the emergency department with generalized malaise and lower limb pain. Fibrous dysplasia may present in the elderly population and can be difficult to differentiate from other malignant and benign lesions affecting the skeletal system.


Assuntos
Displasia Fibrosa Óssea/diagnóstico por imagem , Idoso , Diagnóstico Diferencial , Feminino , Displasia Fibrosa Óssea/genética , Displasia Fibrosa Óssea/patologia , Humanos , Imagem por Ressonância Magnética , Mutação de Sentido Incorreto , Ossos Pélvicos/diagnóstico por imagem , Radiografia , Tomografia Computadorizada por Raios X
5.
J Oral Pathol Med ; 48(6): 441-450, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31062892

RESUMO

The purpose of this study was to perform a systematic review of the literature concerning all documented cases of malignant transformation of craniomaxillofacial fibro-osseous lesions (FOLs). Three electronic databases were searched. Data were evaluated descriptively. Kaplan-Meier survival curves were constructed and compared using the log-rank test. A critical appraisal of included articles was performed through the Joanna Briggs Institute tool. A total of 19 studies including 27 patients were selected for data extraction. Twenty-six cases were initially diagnosed as fibrous dysplasia and one as ossifying fibroma. The mean age at the time of malignant transformation was 38.11 years, and the average time from initial diagnosis to malignant transformation was 18.2 years. The male:female ratio was 1:1.2, and the maxilla:mandible ratio was 1.5:1. The histological type of the malignant tumor was predominantly osteosarcoma. Follow-up was available for 21 patients. The 3-year overall survival rate was 51%. Mandible tumors and diagnoses other than osteosarcoma tended to have poor survival rates, but no significant difference was identified. We concluded that between all FOLs, only fibrous dysplasia seems to have a considerable increased risk of malignant transformation. Thus, a regular and long follow-up period is advised.


Assuntos
Fibroma Ossificante/patologia , Displasia Fibrosa Óssea/patologia , Neoplasias Mandibulares/diagnóstico , Osteossarcoma/diagnóstico , Humanos , Taxa de Sobrevida
6.
Pathol Res Pract ; 215(7): 152450, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31109869

RESUMO

Differential diagnosis among fibrous dysplasias, cemento-ossifying fibromas and cemento-osseous dysplasias is difficult, since there is considerable overlap of histologic features, but also extremely important, since they differ greatly in etiology, clinical behaviour, prognosis and terapeuthic approach. There is no data about the use of immunohistochemistry, a viable and accessible technique, for this purpose. The objective of this study was to investigate, comparatively, the immunohistochemical expression of major non-collagenous proteins (osteonectin [ON], osteopontin [OP], bone sialoprotein [BSP] and osteocalcin [OC]) of mineralized tissue extracellular matrix in 22 cases of fibrous dysplasias, 16 of cemento-ossifying fibromas and 16 of cemento-osseous dysplasias. ON maintained the same expression profile in all cases; the staining for OP was negative in fusiform cells producing cementoid globules and weak, as well as heterogeneous, in high mineralized matrixes; there was negativity for BSP in cementoid globules and in the fusiform cells that produce them, differently from the strong positive expression found in the majority of bone trabeculae and their peripheral cuboidal osteoblasts; and finally, the immuno-reactivity for OC was weak, except in cuboidal osteoblasts and osteocytes. We can conclude that the nature of mineralized structure and the cellular phenotype are much more responsible for variability in immunohistochemical profile than the type of lesion (fibrous dysplasias, cemento-ossifying fibromas and cemento-osseous dysplasias) which makes difficult, at least for a while, the use of these proteins with diagnosis purpose.


Assuntos
Cementoma/diagnóstico , Fibroma Ossificante/diagnóstico , Displasia Fibrosa Óssea/diagnóstico , Sialoproteína de Ligação à Integrina/metabolismo , Osteocalcina/metabolismo , Osteonectina/metabolismo , Osteopontina/metabolismo , Osso e Ossos/patologia , Cementoma/metabolismo , Cementoma/patologia , Diagnóstico Diferencial , Fibroma Ossificante/metabolismo , Fibroma Ossificante/patologia , Displasia Fibrosa Óssea/metabolismo , Displasia Fibrosa Óssea/patologia , Humanos
7.
Acta Orthop ; 90(4): 401-405, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31035847

RESUMO

Background and purpose - Fibrous dysplasia (FD) is a rare bone disorder associated with pain, deformities, and pathological fractures. The pathophysiological mechanism of FD-related pain remains ill-understood. We evaluated the degree of pain and the potential contributory factors in 2 patient cohorts from Austria and the Netherlands. Patients and methods - 197 patients (16-85 years) with FD (Graz n = 105, Leiden n = 92) completed a survey concerning the presence and severity of pain at their FD site. Sex, age, type of FD, and localization of FD lesions were examined for a relationship with the presence and severity of pain. Results - Of 197 patients from the combined cohort (61% female, mean age 49 (SD 16) years, 76% monostotic) who completed the questionnaires, 91 (46%) reported pain at sites of FD lesions. Severity of pain was higher in patients with lesions of the lower extremities and ribs compared with upper extremity or craniofacial lesions. Severe subtypes of FD (polyostotic/McCune-Albright syndrome) were more often associated with pain, often severe. Interpretation - Our data suggest that almost 50% of patients with FD report pain at FD sites, thus representing a major clinical manifestation of the disorder, importantly also in patients with monostotic lesions. Lesions in lower extremities and ribs were more painful.


Assuntos
Displasia Fibrosa Óssea/complicações , Dor/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Áustria , Feminino , Displasia Fibrosa Óssea/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos , Medição da Dor , Fatores de Risco , Inquéritos e Questionários , Adulto Jovem
8.
J Hum Genet ; 64(7): 599-607, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30996299

RESUMO

Familial florid osseous dysplasia (FFOD) is an autosomal dominant disorder of connective tissue, characterized by lobulated cementum-like masses scattered throughout the jaws and the alveolar process. This study aimed to identify the genetic etiology of a three-generation Chinese family affected with FFOD. A novel missense mutation p.C356W in anoctamin 5 (ANO5) gene was successfully identified as the pathogenic mutation by whole-exome sequencing (WES). The p.C356W mutation is located in the first loop between the first and second transmembrane domain of ANO5 protein. Sequence alignment of ANO5 protein among many different species revealed that this position is highly conserved. The p.C356W mutation may damage the predicted protein stability of ANO5 by altering the structure of several extracellular loops of ANO5 and affecting the formation of the disulfide bond, thereby disrupting the correct folding of ANO5 protein. Thus, the amino acid at position 356 appears to play a key role in the protein structural stability and function of ANO5 protein. Our results may also provide new insights into the cause and diagnosis of FFOD and may have implications for genetic counseling and clinical management.


Assuntos
Anoctaminas/genética , Displasia Fibrosa Óssea/genética , Mutação de Sentido Incorreto , Osteomielite/genética , Anoctaminas/química , Densidade Óssea , China , Feminino , Displasia Fibrosa Óssea/diagnóstico por imagem , Displasia Fibrosa Óssea/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Osteomielite/diagnóstico por imagem , Osteomielite/patologia , Linhagem , Domínios Proteicos , Sequenciamento Completo do Exoma
9.
Head Neck Pathol ; 13(3): 466-475, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30887390

RESUMO

Benign fibro-osseous lesions (BFOLs) are a particularly challenging set of diagnoses for the pathologist. This diverse collection of diseases includes fibrous dysplasia, ossifying fibroma and cemento-osseous dysplasia. While all three conditions have similar microscopic presentations, their treatment and prognosis differ, demanding an accurate and definitive diagnosis. A practical and systematic approach considering the patient's history, demographics, intraoperative presentation, and gross appearance with an emphasis on radiology and histology will be discussed.


Assuntos
Neoplasias Ósseas/diagnóstico , Cementoma/diagnóstico , Fibroma Ossificante/diagnóstico , Displasia Fibrosa Óssea/diagnóstico , Neoplasias Ósseas/patologia , Cementoma/patologia , Fibroma Ossificante/patologia , Displasia Fibrosa Óssea/patologia , Humanos
10.
Br J Clin Pharmacol ; 85(6): 1169-1179, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30471134

RESUMO

Fibrous dysplasia (FD) is a genetic, noninheritable rare bone disease caused by a postzygotic activating mutation of the α subunit of the stimulatory G-protein causing increased abnormal bone formation leading to pain, deformity and fractures. To date, no cure has been identified for FD/McCune-Albright syndrome (MAS) and treatment is symptomatic and aimed at decreasing pain and/or local bone turnover. Various drugs have been used to achieve clinical improvement in FD/MAS patients including bisphosphonates and denosumab, however further translational studies are also warranted to address unresolved pathophysiological issues and explore novel pharmacological targets for the management of FD/MAS. In this article, we review literature on the medical treatment of FD/MAS, discuss the unresolved pathophysiological issues and explore novel pharmacological targets for the management of FD/MAS.


Assuntos
Conservadores da Densidade Óssea/uso terapêutico , Remodelação Óssea/efeitos dos fármacos , Osso e Ossos/efeitos dos fármacos , Displasia Fibrosa Óssea/tratamento farmacológico , Animais , Conservadores da Densidade Óssea/efeitos adversos , Osso e Ossos/patologia , Osso e Ossos/fisiopatologia , Descoberta de Drogas , Displasia Fibrosa Óssea/patologia , Displasia Fibrosa Óssea/fisiopatologia , Humanos , Pesquisa Médica Translacional , Resultado do Tratamento
11.
Artigo em Inglês | MEDLINE | ID: mdl-30585553

RESUMO

OBJECTIVE: Mazabraud's syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. Fibrous dysplasia, is generally localized to pelvis and femur and it results in a fragile bone with deformities, pain, pathological fractures and functional impairment. Intramuscular myxomas, are rare benign mesenchymal neoplasms that exceptionally may evolve to malignant forms. METHODS: This case report describes a 66-year-old woman with Mazabraud's Syndrome (MS), characterized both by monostotic right femur fibrous dysplasia and by a solitary intramuscular myxoma at the right quadriceps muscle, that underwent a long-term treatment (4 years) with intravenous zoledronic acid. RESULTS: Zoledronic acid therapy rapidly lowered bone pain together with a reduction of intramuscular myxoma volume, but did not affect the extension of fibrous dysplasia. No adverse effects have been observed during treatment. CONCLUSION: Highly active bisphosphonates are commonly used for the treatment of bone metabolic disorders and they are generally well tolerated. Zoledronic acid may represent a promising alternative to surgical intervention in MS, although its use in rare form of bone fibrous dysplasias is still controversial.


Assuntos
Displasia Fibrosa Óssea/diagnóstico , Neoplasias Musculares/diagnóstico , Mixoma/diagnóstico , Idoso , Diagnóstico Diferencial , Feminino , Displasia Fibrosa Óssea/complicações , Displasia Fibrosa Óssea/patologia , Humanos , Itália , Neoplasias Musculares/complicações , Neoplasias Musculares/patologia , Mixoma/complicações , Mixoma/patologia , Síndrome , Tomografia Computadorizada por Raios X
14.
Dental Press J Orthod ; 23(3): 26-34, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30088561

RESUMO

Florid cemento-osseous dysplasia is a sclerosing disease that affects the mandible, especially the alveolar process, and that is, in most cases, bilateral; however, in some cases it affects up to three or even four quadrants. During the disease, normal bone is replaced with a thinly formed, irregularly distributed tissue peppered with radiolucent areas of soft tissue. Newly formed bone does not seem to invade periodontal space, but, in several images, it is confused with the roots, without, however, compromising pulp vitality or tooth position in the dental arch. There is no replacement resorption, not even when the images suggest dentoalveolar ankylosis. Orthodontists should make an accurate diagnosis when planning treatments, as this disease, when fully established, is one of the extremely rare situations in which orthodontic treatment is contraindicated. This contraindication is due to: (a) procedures such as the installment of mini-implants and mini-plaques, surgical maneuvers to apply traction to unerupted teeth and extractions should be avoided to prevent contamination of the affected bone with bacteria from the oral microbiota; and (b) tooth movement in the areas affected is practically impossible because of bone disorganization in the alveolar process, characterized by high bone density and the resulting cotton-wool appearance. Densely mineralized and disorganized bone is unable to remodel or develop in an organized way in the periodontal ligaments and the alveolar process. Organized bone remodeling is a fundamental phenomenon for tooth movement.


Assuntos
Remodelação Óssea , Displasia Fibrosa Óssea/fisiopatologia , Osteomielite/fisiopatologia , Técnicas de Movimentação Dentária/efeitos adversos , Adulto , Contraindicações de Procedimentos , Implantação Dentária/efeitos adversos , Feminino , Displasia Fibrosa Óssea/diagnóstico por imagem , Displasia Fibrosa Óssea/patologia , Humanos , Pessoa de Meia-Idade , Osteomielite/diagnóstico por imagem , Osteomielite/patologia , Extração Dentária/efeitos adversos
15.
J Oral Maxillofac Surg ; 76(11): 2348-2359, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29859157

RESUMO

PURPOSE: The aims of this study were to describe the clinical and radiologic features of 383 fibro-osseous lesions (FOLs) from an oral pathology reference service in Brazil and to compare the findings with previous studies. The hypothesis of the study was that the most common type of FOL would differ from other investigations. MATERIALS AND METHODS: We conducted a descriptive and retrospective study with review of the records of the clinical and biopsy services (1990 to 2015). All records of the patients included showed a definitive diagnosis of FOL. The primary outcome variable was the type of FOL, and the predictor variables were gender, age, ethnicity, location, and clinical and radiologic characteristics. Descriptive analyses and χ2 tests were performed. The P value was set at .05. RESULTS: From the 27,998 records available, 383 showed FOLs, with 187 (48.8%) being cemento-osseous dysplasias (CODs), 103 (26.9%) being fibrous dysplasias (FDs), and 93 (24.3%) being ossifying fibromas (OFs). The mean age of the patients was 38.5 ± 17.5 years. CODs presented a predilection for female gender (n = 314, 82.0%), African descent (n = 134, 71.6%), and the mandible (n = 248, 64.6%). The most common radiologic feature was a mixed radiolucent-radiopaque image (n = 149, 51.7%). FDs and OFs were commonly diagnosed during the first and second decades of life (P < .001), whereas CODs were more frequently diagnosed beyond the third decade (P < .001). Secondary osteomyelitis was more significantly observed in CODs (P < .001) than in FDs and OFs. Swelling was more frequently reported for FDs and OFs than for CODs (P < .001). CONCLUSIONS: CODs were the most frequently observed FOLs in this Brazilian population. Female patients, patients of African descent, and patients with mandibular localization were most commonly affected by these conditions. The most common type of FOL differed from that in similar case reports or series from various geographic locations. It is believed that the data source (clinical and/or biopsy services) can directly influence the outcome.


Assuntos
Cementoma/patologia , Fibroma Ossificante/patologia , Displasia Fibrosa Óssea/patologia , Doenças Maxilomandibulares/patologia , Neoplasias Maxilomandibulares/patologia , Adolescente , Adulto , Brasil , Cementoma/diagnóstico por imagem , Criança , Diagnóstico Diferencial , Feminino , Fibroma Ossificante/diagnóstico por imagem , Displasia Fibrosa Óssea/diagnóstico por imagem , Humanos , Doenças Maxilomandibulares/diagnóstico por imagem , Neoplasias Maxilomandibulares/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Radiografia Panorâmica , Estudos Retrospectivos
16.
Skeletal Radiol ; 47(11): 1571-1576, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29789859

RESUMO

Fibrous dysplasia (FD) is a benign fibro-osseous disease of the bone that may be solitary or multicentric. It is important to distinguish this type of lesion from low-grade osteosarcomas (LGOS) and from secondary sarcomas, because malignant transformation has rarely been reported. It is classically described as having a ground-glass appearance, endosteal scalloping, and thinning of the cortex. Cortical disruption is considered evidence of malignancy, but it can also be present in benign FD with aggressive behavior. We present an unusual case of aggressive FD of the 7th left rib, already diagnosed more than 22 years ago, where cortical and costo-vertebral joint disruption and 7th thoracic vertebral body involvement were not evidence of malignant behavior. From a histological perspective, FD and LGOS are similar; even if histology is of fundamental importance, the diagnosis has to be made based on the clinical and radiological aspects as well, although at imaging, differentiation between FD and LGOS can be difficult. In the present case, even though the histological examination suggested a benign lesion, the radiological examination instead consistently suggests malignancy. It is for this reason that there should be a high index of suspicion during follow-up and a new biopsy should be scheduled in case any changes occur during follow-up.


Assuntos
Displasia Fibrosa Óssea/diagnóstico por imagem , Costelas/diagnóstico por imagem , Neoplasias Ósseas/diagnóstico , Diagnóstico Diferencial , Feminino , Displasia Fibrosa Óssea/patologia , Humanos , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Osteossarcoma/diagnóstico , Costelas/patologia , Tomografia Computadorizada por Raios X
17.
Turk Patoloji Derg ; 34(3): 234-241, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29744853

RESUMO

OBJECTIVE: Fibrous dysplasia is a slowly progressing bone lesion resulting from displacement of the normal medullary bone with abnormal fibroosseous tissue. The aim of this study was to assess the similarities and differences of our cases in relation to published reports. MATERIAL AND METHOD: In this study, the archives of the Uludag University Medical Faculty Department of Pathology were screened for fibrous dysplasia cases between 2004 and 2016. RESULTS: Within the mentioned period, there were 36 cases diagnosed as fibrous dysplasia. There were 21 male, and 15 female cases with an average age of 27.8±14.8 years (range 7-79 years). The most frequently affected sites were femur, costae, and craniofacial bones. There was one case localized to metacarpal bone, a very rare affection site. There were 4 polyostotic cases including 2 cases of McCune-Albright syndrome. Pelvic bone was affected in the polyostotic type, similar to published reports. Unlike former reports, however, long tubular bones were affected in male patients in our series. In our series, 32 cases had classical fibrous dysplasia, 3 cases had fibrocartilaginous, and one case had fibroosseous variants. Four cases localized to costae were accompanied by aneurysmal bone cyst. The presenting symptom was pathological fractures in a total of 4 cases, 3 localized to the femur, and 1 to the costa. Recurrence occurred in 5 cases treated with curettage. Two of the monostotic fibrous dysplasia cases developed malignant transformation into osteosarcoma. CONCLUSION: We conclude that our series of fibrous dysplasia cases have slight differences and mainly similar characteristics with the series reported earlier, when all features are taken into consideration.


Assuntos
Displasia Fibrosa Óssea/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
18.
Orphanet J Rare Dis ; 13(1): 72, 2018 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-29720212

RESUMO

BACKGROUND: Fibrous dysplasia of the proximal femur presents with heterogeneous clinical manifestations dictating different surgical approaches. However, to date there are no clear recommendations to guide the choice of surgical approach and no general guidelines for the optimal orthopedic management of these lesions. The objective of this study was to evaluate treatment outcomes of angled blade plates and intramedullary nails, using as outcome indicators revision-free survival, pain, function and femoral neck-shaft-angle. Based on a review of published literature and our study findings, we propose a treatment algorithm, taking into account different factors, which may play a role in the selection of one surgical approach over another. METHODS: Data were evaluated in thirty-two patients (18 male) from a combined cohort from the Netherlands and Austria, who had a surgical intervention using an angled blade plate (n = 27) or an intramedullary nail (n = 5) between 1985 and 2015, and who had a minimal follow-up of one year. The primary outcome was success of the procedure according to the revised Henderson classification. Secondary outcomes, which were assessed at one year and at the end of follow-up included: function (as measured by walking ability), pain and change in femoral neck-shaft angle over time. RESULTS: Analysis of data showed that revision-free survival was 72% after a median follow-up of 4.1 years. Revision was necessary in two patients for structural failure due to a fracture distal to an angled blade plate and in 7 patients due to angled blade plate-induced iliotibial tract pain. At the end of follow-up 91% of all patients had good walking ability and 91% were pain free. There was no significant postoperative change in femoral neck shaft angle. CONCLUSION: Our data show that fibrous dysplasia of the proximal femur can be adequately and safely treated with angled blade plates or intramedullary nails, providing these are used according to specific characteristics of the individual patient. Based on published literature and our own experience, we propose an individualized, patient-tailored approach for the surgical management of fibrous dysplasia of the proximal femur.


Assuntos
Fêmur/patologia , Fêmur/cirurgia , Displasia Fibrosa Óssea/patologia , Displasia Fibrosa Óssea/cirurgia , Displasia Fibrosa Poliostótica/patologia , Displasia Fibrosa Poliostótica/cirurgia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Displasia Fibrosa Óssea/mortalidade , Displasia Fibrosa Poliostótica/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
19.
Histol Histopathol ; 33(9): 971-977, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29675824

RESUMO

BACKGROUND: Fibrous dysplasia (FD) is a maturation defect characterized by immature woven bones and stroma. However, especially in craniofacial bones, lamellation can be seen and this is associated with the maturation. AIM: To show maturation in FD and discuss the factors that may affect the maturation. MATERIALS AND METHODS: Ninety-five FD cases were divided into three subgroups according to the lamellation percentage as Groups 1, 2 and 3 (low, moderate and high lamellation, respectively). Each group was compared in terms of the peritrabecular clefting (PTC), stromal cellularity and the age. The lesions under pressure and the ones that are not were compared in terms of lamellation percentage. RESULTS: A significant statistical difference was found between Groups 1 and 3 in terms of PTC, stromal cellularity, histologic pattern suggesting maturation (p<0.001, p<0.001, p=0.002, respectively). CONCLUSION: The findings suggested a strong relation between lamellation and maturation. Lamellation was more prominent in the bones under pressure than the others. Considering lamellation as a finding of maturation, it is possible to establish a relation between maturation and pressure. Therefore, future studies should focus on the question if the pressure could be a factor for maturation and it could be used for treating FD.


Assuntos
Osso e Ossos/patologia , Displasia Fibrosa Óssea/patologia , Displasia Fibrosa Óssea/terapia , Células Estromais/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Displasia Fibrosa Óssea/diagnóstico , Técnicas Histológicas , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Pressão , Estudos Retrospectivos , Suporte de Carga , Adulto Jovem
20.
Oral Dis ; 24(6): 1057-1067, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29667269

RESUMO

OBJECTIVES: The purpose of this study was to evaluate the effects of BMP-2 on bone-grafting procedures for the treatment of fibrous dysplasia based on in vitro and in vivo experiments. SUBJECTS AND METHODS: Proliferation of stem cells was determined by colony-forming assay, CCK-8 assay and BrdU staining. OCT4 and NANOG expression was analysed by flow cytometry and immunocytochemistry. Osteogenic differentiation was assessed by measuring ALP activity, Alizarin red S staining and in vivo transplantation. Gene expression of the osteogenic markers, osteocalcin and type 1 collagen, was determined by RT-PCR. RESULTS: FD-BMSCs showed few calcium deposits and low ALP activity. Bone formation by transplanted FD-BMSCs was also suppressed relative to that of normal BMSCs. However, BMP-2 treatment enhanced osteogenic differentiation of FD-BMSCs mixed with normal BMSCs in vitro and in vivo. Overall, BMP-2 treatment promoted osteogenic differentiation of FD-BMSCs mixed with normal BMSCs. CONCLUSIONS: In patients with FD, stem cells in affected bone are influenced by the mutation, resulting in weak bone formation with the proliferation of immature osteogenic cells. Current treatment of FD involves surgical removal of excess bulk lesions, which can cause facial disfigurement. Our results suggest that BMP-2 application is a good adjunctive modality to the surgical treatment of patients with FD.


Assuntos
Proteína Morfogenética Óssea 2/farmacologia , Diferenciação Celular/efeitos dos fármacos , Displasia Fibrosa Óssea/patologia , Células-Tronco Mesenquimais/fisiologia , Adolescente , Adulto , Proliferação de Células/efeitos dos fármacos , Células Cultivadas , Cromograninas/genética , Feminino , Displasia Fibrosa Óssea/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Humanos , Masculino , Pessoa de Meia-Idade , Osteogênese/efeitos dos fármacos
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