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1.
J Orthop Surg Res ; 19(1): 196, 2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38515135

RESUMO

BACKGROUND: The lack of effective understanding of the pain mechanism of McCune-Albright syndrome (MAS) has made the treatment of pain in this disease a difficult clinical challenge, and new therapeutic targets are urgently needed to address this dilemma. OBJECTIVE: This paper summarizes the novel mechanisms, targets, and treatments that may produce pain in MAS and fibrous dysplasia (polyfibrous dysplasia, or FD). METHODS: We conducted a systematic search in the PubMed database, Web of Science, China Knowledge Network (CNKI) with the following keywords: "McCune-Albright syndrome (MAS); polyfibrous dysplasia (FD); bone pain; bone remodeling; G protein coupled receptors; GDNF family receptors; purinergic receptors and glycogen synthase kinase", as well as other keywords were systematically searched. Papers published between January 2018 and May 2023 were selected for finding. Initial screening was performed by reading the titles and abstracts, and available literature was screened against the inclusion and exclusion criteria. RESULTS: In this review, we systematically analyzed the cutting-edge advances in this disease, synthesized the findings, and discussed the differences. With regard to the complete mechanistic understanding of the pain condition in FD/MAS, in particular, we collated new findings on new pathways, neurotrophic factor receptors, purinergic receptors, interferon-stimulating factors, potassium channels, protein kinases, and corresponding hormonal modulation and their respective strengths and weaknesses. CONCLUSION: This paper focuses on basic research to explore FD/MAS pain mechanisms. New nonneuronal and molecular mechanisms, mechanically loaded responsive neurons, and new targets for potential clinical interventions are future research directions, and a large number of animal experiments, tissue engineering techniques, and clinical trials are still needed to verify the effectiveness of the targets in the future.


Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Animais , Displasia Fibrosa Poliostótica/diagnóstico , Dor/etiologia , Remodelação Óssea , China
2.
Dent Clin North Am ; 68(2): 297-317, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38417992

RESUMO

This review directs the focus on the imaging features of various fibro-osseous lesions and other bone lesions that can be of similar presentation. Broad diagnosis of "fibrous osseous lesion" may culminate in improper treatment and management. Radiographic discriminating factors between these entities are highlighted and summarized to improve the diagnostic process when encountering these lesions.


Assuntos
Fibroma Ossificante , Displasia Fibrosa Óssea , Humanos , Diagnóstico por Imagem , Arcada Osseodentária , Fibroma Ossificante/diagnóstico por imagem , Fibroma Ossificante/patologia , Displasia Fibrosa Óssea/diagnóstico por imagem , Displasia Fibrosa Óssea/patologia
3.
Bone Res ; 12(1): 10, 2024 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-38378678

RESUMO

Fibrous dysplasia (FD) is a rare, disabling skeletal disease for which there are no established treatments. Growing evidence supports inhibiting the osteoclastogenic factor receptor activator of nuclear kappa-B ligand (RANKL) as a potential treatment strategy. In this study, we investigated the mechanisms underlying RANKL inhibition in FD tissue and its likely indirect effects on osteoprogenitors by evaluating human FD tissue pre- and post-treatment in a phase 2 clinical trial of denosumab (NCT03571191) and in murine in vivo and ex vivo preclinical models. Histological analysis of human and mouse tissue demonstrated increased osteogenic maturation, reduced cellularity, and reduced expression of the pathogenic Gαs variant in FD lesions after RANKL inhibition. RNA sequencing of human and mouse tissue supported these findings. The interaction between osteoclasts and mutant osteoprogenitors was further assessed in an ex vivo lesion model, which indicated that the proliferation of abnormal FD osteoprogenitors was dependent on osteoclasts. The results from this study demonstrated that, in addition to its expected antiosteoclastic effect, denosumab reduces FD lesion activity by decreasing FD cell proliferation and increasing osteogenic maturation, leading to increased bone formation within lesions. These findings highlight the unappreciated role of cellular crosstalk between osteoclasts and preosteoblasts/osteoblasts as a driver of FD pathology and demonstrate a novel mechanism of action of denosumab in the treatment of bone disease.TRIAL REGISTRATION: ClinicalTrials.gov NCT03571191.


Assuntos
Denosumab , Displasia Fibrosa Óssea , Animais , Humanos , Camundongos , Denosumab/farmacologia , Displasia Fibrosa Óssea/tratamento farmacológico , Ligantes , Osteoblastos/metabolismo , Osteogênese/genética
4.
Clin Nucl Med ; 49(4): e182-e183, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38377356

RESUMO

ABSTRACT: A 16-year-old woman presented with an acute headache on the left side. A head CT scan revealed bone destruction in the skull. Subsequent 18 F-FDG and 18 F-FAPI PET/CT scans were performed within a week. The 18 F-FDG PET/CT indicated mild uptake in the regions of bone destruction, whereas the 18 F-FAPI PET/CT displayed significant tracer accumulation. The patient was ultimately diagnosed with fibrous dysplasia.


Assuntos
Displasia Fibrosa Óssea , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Feminino , Humanos , Adolescente , Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons , Displasia Fibrosa Óssea/diagnóstico por imagem , Crânio
5.
Orphanet J Rare Dis ; 19(1): 50, 2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38326833

RESUMO

BACKGROUND: Reducing delayed diagnosis is a significant healthcare priority for individuals with rare diseases. Fibrous Dysplasia/ McCune Albright Syndrome (FD/MAS) is a rare bone disease caused by somatic activation mutations of NASA. FD/MAS has a broad clinical phenotype reflecting variable involvement of bone, endocrine and other tissues, distribution and severity. The variable phenotype is likely to prolong the diagnostic journey for patients further. AIM: To describe the time from symptom onset to final diagnosis in individuals living with FDMAS. METHODS: We used the UK-based RUDY research database ( www.rudystudy.org ), where patients self-report their diagnosis of FD/MAS. Participants are invited to complete the diagnostic journey based on the EPIRARE criteria. RESULTS: 51 individuals diagnosed with FD/MAS were included in this analysis. Among them, 70% were female, and the median age was 51.0 years (IQR 34.5-57.5]. 12 (35%) individuals reported McCune Albright Syndrome, 11 (21.6%) craniofacial and 11(21.6%) for each of poly- and mono-ostotic FD and 6 (11.8%) did not know their type of FD/MAS. Pain was the commonest first symptom (58.8%), and 47.1% received another diagnosis before the diagnosis of FD/MAS. The median time to final diagnosis from the first symptom was two years with a wide IQR (1,18) and range (0-59 years). Only 12 (23.5%) of individuals were diagnosed within 12 months of their first symptoms. The type of FD/MAS was not associated with the reported time to diagnosis. Significant independent predictors of longer time to final diagnosis included older current age, younger age at first symptom and diagnosis after 2010. CONCLUSION: Individuals with FDMAS have a variable time to diagnosis that can span decades. This study highlights the need for further research on how to improve diagnostic pathways within Orthopaedic and Ear, Nose and Throat (ENT)/Maxillofacial services. Our data provides a baseline to assess the impact of novel NHS diagnostic networks on reducing the diagnostic odyssey.


Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Displasia Fibrosa Poliostótica/diagnóstico , Displasia Fibrosa Óssea/diagnóstico , Fenótipo
6.
Bone ; 181: 117047, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38331308

RESUMO

Brain derived neurotrophic factor (BDNF) is a neurotrophin, expressed in the central nervous system and in peripheral tissues, that is regulated by the Gsα/cAMP pathway. In bone, it regulates osteogenesis and stimulates RANKL secretion and osteoclast formation in osteolytic tumors such as Multiple Myeloma. Fibrous dysplasia (FD) of bone is a rare genetic disease of the skeleton caused by gain-of-function mutations of the Gsα gene in which RANKL-dependent enhanced bone resorption is a major cause of bone fragility and clinical morbidity. We observed that BDNF transcripts are expressed in human FD lesions. Specifically, immunolocalization studies performed on biopsies obtained from FD patients revealed the expression of BDNF in osteoblasts and, to a lower extent, in the spindle-shaped cells within the fibrous tissue. Therefore, we hypothesized that BDNF can play a role in the pathogenesis of FD by stimulating RANKL secretion and bone resorption. To test this hypothesis, we used the EF1α-GsαR201C mouse model of the human disease (FD mice). Western blot analysis revealed a higher expression of BDNF in bone segments of FD mice compared to WT mice and the immunolabeling pattern within mouse FD lesions was similar to that observed in human FD. Treatment of FD mice with a monoclonal antibody against BDNF reduced the fibrous tissue along with the number of osteoclasts and osteoblasts within femoral lesions. These results reveal BDNF as a new player in the pathogenesis of FD and a potential molecular mechanism by which osteoclastogenesis may be nourished within FD bone lesions. They also suggest that BDNF inhibition may be a new approach to reduce abnormal bone remodeling in FD.


Assuntos
Reabsorção Óssea , Displasia Fibrosa Óssea , Humanos , Camundongos , Animais , Fator Neurotrófico Derivado do Encéfalo , Osso e Ossos/metabolismo , Displasia Fibrosa Óssea/genética , Osteoclastos/metabolismo
8.
Curr Opin Endocrinol Diabetes Obes ; 31(1): 60-66, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38010041

RESUMO

PURPOSE OF REVIEW: The purpose of this review is to provide a comprehensive overview into the diagnosis and management of fibrous dysplasia (FD) in children. RECENT FINDINGS: FD is a mosaic disorder arising from somatic Gα s variants, leading to impaired osteogenic cell differentiation. Fibro-osseous lesions expand during childhood and reach final disease burden in early adulthood. The mainstay of treatment focuses on surgical correction of skeletal deformities, physiatric care, and medical management of associated hyperfunctioning endocrinopathies. Bisphosphonates may be helpful to treat bone pain, but do not alter lesion quality or progression. Emerging evidence suggests that the RANKL inhibitor denosumab may be effective in improving lesion activity and mineralization, however further studies are needed to determine the potential utility of this and other novel therapies, particularly in children with FD. SUMMARY: Management of children with FD has unique challenges related to skeletal growth and age-related lesion progression. Inclusion of children in clinical research is critical to develop effective treatment strategies to treat FD lesions and prevent their development.


Assuntos
Doenças Ósseas , Displasia Fibrosa Óssea , Criança , Humanos , Adulto , Displasia Fibrosa Óssea/diagnóstico , Displasia Fibrosa Óssea/genética , Displasia Fibrosa Óssea/terapia , Osso e Ossos/patologia , Diferenciação Celular , Difosfonatos/uso terapêutico
9.
J Clin Endocrinol Metab ; 109(3): 771-782, 2024 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-37804088

RESUMO

CONTEXT: Pain is a poorly managed aspect in fibrous dysplasia/McCune-Albright syndrome (FD/MAS) because of uncertainties regarding the clinical, behavioral, and neurobiological underpinnings that contribute to pain in these patients. OBJECTIVE: Identify neuropsychological and neurobiological factors associated with pain severity in FD/MAS. DESIGN: Prospective, single-site study. PATIENTS: Twenty patients with FD/MAS and 16 age-sex matched healthy controls. INTERVENTION: Assessments of pain severity, neuropathic pain, pain catastrophizing (pain rumination, magnification, and helplessness), emotional health, and pain sensitivity with thermal quantitative sensory testing. Central nervous system (CNS) properties were measured with diffusion tensor imaging, structural magnetic resonance imaging, and functional magnetic resonance imaging. MAIN OUTCOME MEASURES: Questionnaire responses, detection thresholds and tolerances to thermal stimuli, and structural and functional CNS properties. RESULTS: Pain severity in patients with FD/MAS was associated with more neuropathic pain quality, higher levels of pain catastrophizing, and depression. Quantitative sensory testing revealed normal detection of nonnoxious stimuli in patients. Individuals with FD/MAS had higher pain tolerances relative to healthy controls. From neuroimaging studies, greater pain severity, neuropathic pain quality, and psychological status of the patient were associated with reduced structural integrity of white matter pathways (superior thalamic radiation and uncinate fasciculus), reduced gray matter thickness (pre-/paracentral gyri), and heightened responses to pain (precentral, temporal, and frontal gyri). Thus, properties of CNS circuits involved in processing sensorimotor and emotional aspects of pain were altered in FD/MAS. CONCLUSION: These results offer insights into pain mechanisms in FD/MAS, while providing a basis for implementation of comprehensive pain management treatment approaches that addresses neuropsychological aspects of pain.


Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Neuralgia , Humanos , Displasia Fibrosa Poliostótica/patologia , Imagem de Tensor de Difusão , Estudos Prospectivos , Displasia Fibrosa Óssea/patologia , Neuralgia/diagnóstico , Neuralgia/etiologia
10.
World Neurosurg ; 181: e1130-e1137, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37995993

RESUMO

OBJECTIVE: This study presents the clinical characteristics, imaging manifestations, and surgical experience in 38 patients diagnosed with craniofacial fibrous dysplasia in fronto-orbital region (foFD). METHODS: We retrospectively analyzed the clinical data from 38 patients who had surgery for foFD. The surgical procedure typically involved extensive tumor removal, followed by immediate reconstruction of the frontal bone and orbit using synthetic materials. Additionally, 9 patients underwent simultaneous microscopic decompression of the optic canal. RESULTS: Common clinical manifestations included progressive fronto-orbital bone deformity (35), proptosis (28), orbital dystopia (21), and visual impairment (9). The disease primarily affecting the frontal bone (38), the sphenoid bone (28), and the ethmoid bone (24). The optic canal was involved in 9 patients with functional impairment. Computed tomography scans in all 38 cases revealed satisfactory repair material positioning and complete resolution of frontal deformities. Among the 9 patients who underwent optic canal decompression, 7 experienced partial recovery of visual acuity after surgery. CONCLUSIONS: In the surgical treatment of foFD, it is crucial to achieve maximal bone resection and repair skull defects, while decompressing the optic canal can provide significant benefits for patients with decreased visual function preoperatively. The use of preformed artificial materials offers advantages in aesthetic restoration after lesion excision.


Assuntos
Displasia Fibrosa Craniofacial , Displasia Fibrosa Óssea , Doenças Orbitárias , Humanos , Estudos Retrospectivos , Displasia Fibrosa Óssea/diagnóstico por imagem , Displasia Fibrosa Óssea/cirurgia , Órbita/diagnóstico por imagem , Órbita/cirurgia , Doenças Orbitárias/cirurgia , Tomografia Computadorizada por Raios X
11.
Clin Nucl Med ; 49(1): e22-e24, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-38084903

RESUMO

ABSTRACT: Fibrous dysplasia (FD) typically presents unilaterally in the lower limbs, or in the skull, mandible, or pelvis. Bilateral presentation is rarely reported. Most cases are diagnosed in the teens with 75% of patients diagnosed before the age of 30 years. In this case, a 63-year-old woman with suspected diagnosis of malignancy was referred to 99mTc-MDP scan and found to have polyostotic FD in bilateral upper extremities. Nuclear medicine can play an important role in diagnosing FD cases with atypical presentation and help risk stratification for more aggressive transformation.


Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Feminino , Humanos , Pessoa de Meia-Idade , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Cintilografia , Crânio , Medronato de Tecnécio Tc 99m
12.
Pan Afr Med J ; 46: 33, 2023.
Artigo em Francês | MEDLINE | ID: mdl-38145201

RESUMO

McCune-Albright syndrome is an inherited disease characterized by the association of fibrous dystrophy of bone, café-au-lait skin spots and precocious puberty revealing endocrine hyperactivity. Genetically, this disease is due to a mutation of the Gs protein responsible for activation of adenylate cyclase with excessive production of cAMP. The particular morphology of café-au-lait spots should suggest early diagnosis. Its treatment depends on the endocrinopathy from which the patient suffers and the extent of the fibrous dysplasia. Bisphosphonates have proven their effectiveness on bone pain and the limitation of fibrous dysplasia. Surgery retains its place in complicated forms. We report a rare case of McCune-Albright syndrome complicated by a femur fracture in a 12-year-old girl and we discuss the clinical and paraclinical characteristics of this pathological entity.


Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Puberdade Precoce , Feminino , Humanos , Criança , Displasia Fibrosa Poliostótica/diagnóstico , Puberdade Precoce/diagnóstico , Puberdade Precoce/etiologia , Manchas Café com Leite/etiologia , Manchas Café com Leite/complicações , Mutação
13.
Rev. esp. patol ; 56(4): 243-251, Oct-Dic, 2023. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-226957

RESUMO

Introducción: Enrique IV Rey de Castilla, último rey de la dinastía Trastámara, era hermano de Isabel la Católica. Se le conoce como «el impotente». Basándose en las descripciones previas de los historiadores y biógrafos, Gregorio Marañón en 1922 lo catalogó de «Displásico eunucoide con reacción acromegálica y con netos rasgos esquizoides». Métodos: En 1946 se realizó una inspección post mortem del cadáver momificado hallado en el Monasterio de Guadalupe. Se dejó constancia de un documento escrito y algunas fotografías. Hemos recogido los signos y síntomas descritos y aplicado la clasificación internacional de las enfermedades recomendada por la Organización mundial de la Salud, CIE11-2023. También nos hemos apoyado en las monedas emitidas en el monetario de Enrique IV, en las que hemos identificado aumento de la glándula tiroides. Resultados: Con los datos que están accesibles hasta este momento, sugerimos que Enrique IV padeció de forma altamente probable: displasia ósea facial y poliostótica, cifosis, cojera de una extremidad, alteraciones endocrinas múltiples, acromegalia con macrognatia, enfermedad nodular tiroidea, diaforesis maloliente, disfunción eréctil, hipospadias, desarrollo sexual anómalo, «pelvis feminoide», cólicos abdominales, oligodoncia y desplazamientos dentales. Es posible que también padeciera: pubertad precoz, litiasis renal con fosfaturia debilitante, túnel carpiano, trombocitopenia e hiperplasia o adenoma hipofisario productor de hormona de crecimiento. Conclusión: Sugerimos que Enrique IV pudo sufrir un síndrome de McCune-Albrigth asociado a Displasia fibrosa, una enfermedad rara debida a mutaciones activadoras de función en el gen GNAS.(AU)


Background: Henry IV King of Castile, last king of the Trastámara dynasty, was the brother of Isabella the Catholic. He is known as “the impotent”. Based on previous descriptions by historians and biographers, Gregorio Marañón in 1922 described him as “eunuchoid dysplastic with acromegalic reaction and clear schizoid features”. Methods: In 1946, a post-mortem inspection was carried out on the mummified corpse found in the Monastery of Guadalupe. A written document and some photographs were recorded. We have collected the signs and symptoms described and applied the international classification of diseases recommended by the World Health Organisation, ICD11-2023. We have relied on the coins issued in the money of Henry IV, on which we have identified enlargement of the thyroid gland. Results: With the data available at this time, we suggest that Henry IV most probably suffered from: facial and polyostotic bone dysplasia, kyphosis, limb limping, multiple endocrine disorders, acromegaly with macrognatia, nodular thyroid disease, malodorous diaphoresis, erectile dysfunction, hypospadias, abnormal sexual development, “feminoid pelvis”, abdominal colic, oligodontia and dental displacement. It is possible that he also suffered from: precocious puberty, renal lithiasis with debilitating phosphaturia, carpal tunnel, thrombopenia and growth hormone-producing pituitary hyperplasia or adenoma. Conclusion: We suggest that Henry IV may have suffered from McCune–Albrigth syndrome associated with fibrous dysplasia, a rare disease due to gain-of-function mutations in the GNAS gene.(AU)


Assuntos
Humanos , Masculino , Displasia Fibrosa Óssea/diagnóstico , Facies , Face/anormalidades , Espanha
14.
Int J Mol Sci ; 24(21)2023 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-37958575

RESUMO

Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic course of non-neoplastic fibrous tissue buildup in place of healthy bone. A myriad of factors have been associated with its onset and progression. Perturbation of cell-cell signaling networks and response outputs leading to disrupted building blocks, incoherent multi-level organization, and loss of rigid structural motifs in mineralized tissues are factors that have been identified to participate in FD induction. In more recent years, novel insights into the unique biology of FD are transforming our understandings of its pathology, natural discourse of the disease, and treatment prospects. Herein, we built upon existing knowledge with recent findings to review clinical, etiologic, and histological features of FD and discussed known and potential mechanisms underlying FD manifestations. Subsequently, we ended on a note of optimism by highlighting emerging therapeutic approaches aimed at either halting or ameliorating disease progression.


Assuntos
Displasia Fibrosa Óssea , Subunidades alfa Gs de Proteínas de Ligação ao GTP , Humanos , Subunidades alfa Gs de Proteínas de Ligação ao GTP/metabolismo , Displasia Fibrosa Óssea/terapia , Displasia Fibrosa Óssea/patologia , Osso e Ossos/metabolismo , Comunicação Celular
15.
Head Neck Pathol ; 17(4): 1064-1066, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37735288

RESUMO

The differential diagnosis for an isolated lytic mastoid lesion is broad, encompassing various conditions requiring careful consideration. These include granulomatous disorders such as Langerhans cell histiocytosis and sarcoidosis, neoplastic processes like multiple myeloma, leukemia, lymphoma, and metastases, primary bone diseases such as Paget's disease, fibrous dysplasia, and osteitis fibrosa cystica, as well as infectious causes like osteomyelitis. In this report, we present a patient with otalgia and an isolated lytic mastoid lesion.


Assuntos
Doenças Ósseas , Displasia Fibrosa Óssea , Osteíte Deformante , Osteíte Fibrosa Cística , Humanos , Processo Mastoide , Dor de Orelha/etiologia , Osteíte Fibrosa Cística/etiologia , Osteíte Deformante/complicações , Displasia Fibrosa Óssea/complicações
16.
Eur J Med Genet ; 66(11): 104849, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37739062

RESUMO

INTRODUCTION: Reference Centers and Rare Disease Health Networks aim to improve the management of patients with rare diseases. The French reference center for Fibrous Dysplasia was certified in 2006. OBJECTIVE: The objective of our study was to assess the effectiveness of our reference center since its constitution. METHODS: In a retrospective cohort study, we compared the activity of our center, including the time elapsed between access to the center and the diagnostic delay of patients with Fibrous Dysplasia between two periods, 1994-2006 (before certification) and 2007-2019 (after certification). Data were extracted from patients' records (Easily®). Wilcoxon and Fisher tests were performed, using R®. RESULTS: Our cohort included 527 patients with Fibrous Dysplasia/Mc Cune Albright syndrome. The activity of the Fibrous Dysplasia center increased from 139 patients in the first period (1994-2006) to an additional 388 patients for the second period (2007-2019). Mean time elapsed to diagnosis of Fibrous Dysplasia was 1.5 years before 2007 and 1.9 years after 2007 (p = 0.12). Diagnosis was made before referral in over 80% of patients. There was a non-significant decrease in the number of patients with delayed diagnosis: 37 patients (44%) in the first period had a diagnostic delay and 94 patients (33%) in the second period (p = 0.07). Patients were referred to our center on average 6.8 years (before 2007) and 7.9 years (after 2007) after their diagnosis (p = 0.77). CONCLUSION: Healthcare organization with reference centers significantly impacted the management of patients with Fibrous Dysplasia/Mc Cune Albright syndrome, with a substantial increase in the activity of our center, that roughly tripled since certification. This healthcare organization was also associated with a trend toward decreasing diagnostic delay. However, diagnostic delay affected more than a third of patients and the time to access to the center remained extended (≈7-8 years after diagnosis). The current challenge lies in informing primary care providers and patients about education to rare diseases and existence of reference centers for earlier and more effective specialized management.


Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Humanos , Displasia Fibrosa Poliostótica/diagnóstico , Displasia Fibrosa Poliostótica/epidemiologia , Displasia Fibrosa Poliostótica/terapia , Doenças Raras/diagnóstico , Doenças Raras/epidemiologia , Doenças Raras/terapia , Estudos Retrospectivos , Diagnóstico Tardio , Displasia Fibrosa Óssea/complicações
17.
Rev. int. med. cienc. act. fis. deporte ; 23(92): 90-101, aug.-sept. 2023. tab, ilus
Artigo em Inglês | IBECS | ID: ibc-229390

RESUMO

Background:This retrospective study focuses on the application of computer simulation in reconstructing severe bone defects in adult players with fibrous dysplasia. Conducted from August 2017 to December 2020, the study analyzed medical records of nine patients treated in our department. The approach involved importing image data into a computer to reconstruct models of affected limbs, enabling precise lesion locationidentification for curettage, bone grafting calculations, and internal fixation matching. The study included nine adult patients, suffering from either monostotic or polyostotic forms of severe fibrous dysplasia, with lesions located in the humerus, femur, and tibia. The results showed that this method can shorten surgery time, minimize intraoperative trauma, and enhance the effectiveness of bone reconstruction. The average follow-up period was 32.27 months, with the MSTS score averaging 21.2 points and Shin's imaging scoring system for bone grafting scoring an average of 13.5 and 14.3 at the 1-and 2-year post-operation marks, respectively. Despite two patients experiencing complications, this technique demonstrates promise in managing severe bone defects in adults, particularly in sports-related contexts (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Displasia Fibrosa Óssea/cirurgia , Simulação por Computador , Traumatismos em Atletas/cirurgia , Índice de Gravidade de Doença
18.
Rev Endocr Metab Disord ; 24(6): 1103-1119, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37632645

RESUMO

Fibrous dysplasia (FD) is a rare skeletal disorder in which normal bone is replaced by a fibro-osseous tissue, resulting in possible deformities and fractures. The aim of this systematic review and meta-analysis was to synthesize the available evidence on the use of antiresorptive drugs in FD in terms of changes in bone turnover markers (BTMs), bone mineral density (BMD), and reducing pain. Three databases were searched in October 2022, with an update in July 2023. Of the 1037 studies identified, 21 were retained after eligibility assessment. A random-effects model was used to calculate global effect size and the corresponding standard error. Pamidronate and Denosumab were the most reported drugs in a total of 374 patients assessed. The initiation of treatments was accompanied by an average reduction of 40.5% [CI95% -51.6, -29.3] in the bone resorption parameters, and 22.0% [CI95% -31.9, -12.1] in the parameters of bone formation after 6-12 months. BMD was increased in both FD lesions and in the unaffected skeleton. Pain was reduced by 32.7% [CI95% -52.7, -12.6] after 6-12 months of treatment, and by 44.5% [CI95% -65.3, -23.6] after a mean 41.2 months of follow-up. The variation in pain was highly correlated to variation in bone resorption (R2 = 0.08, p < 0.0001) and formation parameters (R2 = 0.17, p < 0.0001). This study supports the overall efficacy of antiresorptive therapies in terms of reducing bone remodeling, improving bone density, and pain in FD.


Assuntos
Conservadores da Densidade Óssea , Reabsorção Óssea , Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Humanos , Conservadores da Densidade Óssea/uso terapêutico , Displasia Fibrosa Poliostótica/tratamento farmacológico , Displasia Fibrosa Poliostótica/complicações , Difosfonatos/uso terapêutico , Displasia Fibrosa Óssea/tratamento farmacológico , Displasia Fibrosa Óssea/complicações , Displasia Fibrosa Óssea/patologia , Reabsorção Óssea/induzido quimicamente , Reabsorção Óssea/complicações , Reabsorção Óssea/tratamento farmacológico , Dor/induzido quimicamente , Dor/complicações , Dor/tratamento farmacológico
19.
J Pak Med Assoc ; 73(Suppl 4)(4): S334-S336, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37482882

RESUMO

Polyostotic fibrous dysplasia is a rare benign asymptomatic tumour of the ribs not requiring surgery on most occasions. We present here a case with left 10th and 11th rib fibrous dysplasia which was causing a hinderance to the Urologist for renalstone extraction. Therefore the 10th and 11th ribs were excised followed by chest wall reconstruction.


Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Humanos , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Displasia Fibrosa Poliostótica/cirurgia , Tomografia Computadorizada por Raios X , Displasia Fibrosa Óssea/diagnóstico por imagem , Displasia Fibrosa Óssea/cirurgia , Costelas/diagnóstico por imagem , Costelas/cirurgia , Costelas/patologia , Diagnóstico Diferencial
20.
J Bone Miner Res ; 38(10): 1465-1471, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37477421

RESUMO

Fibrous dysplasia (FD) is characterized by expansile fibro-osseous lesions that may occur in association with endocrinopathies as part of McCune-Albright syndrome (MAS). Craniofacial FD is a significant source of morbidity and most commonly involves the gnathic bones. There is a critical need to understand the natural history and risk factors for gnathic FD progression to develop preventative trials and identify candidates for intervention. The purpose of this study was to characterize gnathic FD lesion expansion and to identify risk factors associated with lesion growth. Patients with gnathic FD and serial CT imaging were evaluated. Volumetric analyses of CT scans were performed using MIM Encore software. Generalized mixed model analysis was used to account for intra-subject correlation, with FD lesion volume as the dependent variable. In addition to age, effects of MAS-associated endocrinopathies, sex, disease severity, and bisphosphonate treatment were evaluated. A total of 104 total lesions in 52 patients were characterized longitudinally. Median age at initial scan was 8.8 years (range 3.4-18.8), and median age at final scan was 16.8 years (range 6.9-33.4 years). The median number of scans per subject was 4 (range 2-14). FD lesion volume increased with age (2.50 cm3 /yr, 95% confidence interval [CI] 1.95-3.04, p < 0.001). However, lesion expansion rate decreased over time (-0.05 cm3 /yr, 95% CI -0.07 to 0.04, p < 0.001). Mandibular lesions tended to expand at a greater rate than maxillary lesions (p < 0.001). Growth hormone excess was associated with accelerated expansion rate (p = 0.002). Other MAS-associated endocrinopathies, pubertal status, sex, weight, lesion density, disease severity, and bisphosphonate treatment were not associated with lesion volume or expansion. Gnathic FD lesion expansion is most rapid in younger children and declines as patients approach adulthood. The availability of quantitative natural history data will guide clinicians in identifying patients who are candidates for medical and surgical interventions and clinical trials for preventative therapies. Published 2023. This article is a U.S. Government work and is in the public domain in the USA.


Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Criança , Humanos , Adulto , Pré-Escolar , Adolescente , Adulto Jovem , Difosfonatos/farmacologia , Difosfonatos/uso terapêutico , Displasia Fibrosa Óssea/patologia , Displasia Fibrosa Poliostótica/complicações , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Displasia Fibrosa Poliostótica/tratamento farmacológico , Osso e Ossos/patologia , Tomografia Computadorizada por Raios X
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