Fibrous Dysplasia Polyostotic
Mostrando 1-4 de 4 artigos, teses e dissertações.
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1. Effects of zoledronic acid therapy in fibrous dysplasia of bone: a single-center experience
ABSTRACT Objective: Fibrous dysplasia (FD) is a rare bone disorder that can involve any part of the skeleton, leading to bone pain, deformities, and fractures. Treatment with intravenous bisphosphonates has been used with variable results. Therefore, we aimed to evaluate the effects of zoledronic acid (ZA) therapy in patients with monostotic or polyostotic
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Padronização das técnicas de PNA e PCR em tempo real para detecção das mutações ativadoras no GNAS na síndrome de McCune-Albright / Standardization of the PNA and real time techniques for the detection of activating mutations in the GNAS in McCune-Albright syndrome
The McCune-Albright Syndrome (MAS) is a genetic disease, with incidence estimated at 1/100.000 and 1/1000000 cases per year. MAS is clinically characterized by the triad: bone fibrous dysplasia (FD) café-au-lait skin spots and endocrine hyperfunction, such as: precocious puberty (PP), Cushing s syndrome, hyperthyroidism and acromegaly. The diagnosis of MAS
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 05/10/2012
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3. Increased IL-6-production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome.
McCune-Albright syndrome (MAS) is characterized by café-au-lait spot, multiple endocrine hyperfunction, and polyostotic fibrous dysplasia. A somatic point mutation of Gsalpha protein was reported to decrease GTPase activity, leading to increase in the GSalpha-associated hormone actions via cAMP. IL-6 is known to stimulate osteoclast formation and in the IL-
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4. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
McCune-Albright syndrome (MAS) is characterized by polyostotic fibrous dysplasia, café-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The diverse metabolic abnormalities seen in MAS share the involvement of cells that respond to extracellu