Apert Syndrome
Mostrando 1-12 de 21 artigos, teses e dissertações.
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1. Estudo funcional de células derivadas do periósteo portadoras da mutação p.S252W em FGFR2: alterações fenotípicas e moleculares / Functional analysis of periosteum derived cells bearing the FGFR2 p.S252W mutation: phenotypical and molecular alterations
Mutações do tipo ganho de função em FGFR2 causam a síndrome de Apert, uma doença rara caracterizada por craniossinostose e defeitos ósseos nos membros devidos a anormalidades na diferenciação e remodelamento ósseos. Apesar do periósteo ser uma importante fonte de células durante o remodelamento ósseo, seu papel nas craniossinostoses ainda é pou
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 15/02/2012
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2. Estudo da contribuição molecular e celular do periósteo na craniossinostose da síndrome de Apert / Study of the molecular and cellular contribution of the periosteum to the craniosynostosis in Apert syndrome
O crânio é composto de estruturas que interagem entre si formando um sistema complexo, como os ossos da caixa craniana unidos por tecido fibroso (sutura), o qual exerce função importante durante o desenvolvimento do indivíduo até a idade adulta. Ao fenômeno de fusão prematura das suturas dá-se o nome de craniossinostose que, em 32% dos casos com dia
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 04/08/2011
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3. Equivalência de estímulos em crianças portadoras da síndrome de apert / Stimulus equivalence in children with Apert Syndrome
The present study investigated the symbolic behaviors of patients with Apert Syndrome through the paradigm of stimulus equivalence, since it may provide a basis for understanding complex human behavior, such as symbolic behavior and language. It had been proposed three experiments which participants, aged between 16 and 21 years, were submitted to Experiment
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 03/05/2011
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4. Caracterização do perfil de linguagem de indivíduos com Síndrome de Apert / Language Profile Characterization of Individuals with Apert Syndrome
As craniossinostoses são defeitos do estojo ósseo craniano causado pela fusão precoce de uma ou mais das suturas cranianas. A Síndrome de Apert é considerada uma raniossinostose sindrômica que corresponde a 4,5% de todas as craniossinostoses. A síndrome de Apert pode ser prejudicial no processo de desenvolvimento de linguagem, pois atingem estruturas
Publicado em: 2010
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5. Comparison of periodontal parameters in individuals with syndromic craniosynostosis
Craniosynostosis syndromes are characterized by premature closure of one or more cranial sutures, associated with other malformations, the most frequent of which are the Crouzon and Apert syndromes. Few studies in the literature have addressed the oral health of these individuals. The purpose of this study was to compare the periodontal status of individuals
Journal of Applied Oral Science. Publicado em: 2009-02
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6. Análise histológica, histoquímica e imunohistoquímica da mucosa de palato duro em pacientes portadores de síndrome de Apert / Histological, histochemical and immunohistochemical analysis of the hard palate mucosa in patients with Apert syndrome
Avaliou-se a mucosa de palato duro de indivíduos portadores de síndrome de Apert, atendidos no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo. Doze indivíduos foram submetidos à gengivectomia de tecido exuberante da mucosa palatina para colocação de bandas e acessórios ortodônticos. Os tecidos excisados foram subm
Publicado em: 2009
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7. "Condições bucais de pacientes com craniossinostoses múltiplas sindrômicas e síndrome de Treacher Collins." / "Oral health status of patients with syndromic craniosynostosis and Treacher Collins syndrome."
Two groups of patients were evaluated in an attempt to achieve more information on the oral health status, association with cleft lip and palate, soft tissue alterations and prevalence of dental anomalies in patients with craniofacial syndromes. One group comprised 19 patients with craniosynostosis syndromes (Apert, Crouzon, Pfeiffer and Saethre-Chotzen synd
Publicado em: 2004
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8. Apert syndrome: skull abnormalities, brain malformations, neuropsychological evaluation and timing for surgery
Arquivos de Neuro-Psiquiatria. Publicado em: 2002-09
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9. Structural alterations of extraocular muscle associated with Apert's syndrome.
An inferior oblique muscle from a patient with Apert's syndrome was examined by light and electron microscopy. Alterations in the muscle fibres, the myoneural junctions, and intramuscular nerves were observed. These data are not compatible with the widespread notion that motility disturbances in this syndrome are solely due to mechanical limitations.
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10. Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.
Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by premature fusion of cranial sutures. We analyzed proliferation and differentiation of calvaria cells derived from Apert infants and fetuses with FGFR-2 mutations. Histological analysis revealed premature ossification, increased extent of subperiosteal bo
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11. Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes
The National Academy of Sciences.
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12. Intellectual development in Apert's syndrome: a long term follow up of 29 patients.
Twenty-nine patients with Apert's syndrome were ascertained through hospital records. The mean age was 19.3 years (range eight to 35 years). Further information was obtained on their intelligence, education, and employment records. Fourteen patients (48%) had a normal or borderline IQ (greater than 70), nine patients (31%) were mildly mentally retarded (IQ 5