845 resultados para craniofacial malformation
Resumo:
A respiração bucal é altamente comprometedora no que respeita correto crescimento e desenvolvimento das estruturas craniofaciais, podendo provocar uma série de desvios e alterações, nomeadamente alterações dentofaciais de carácter ortodôntico. O presente trabalho visa a elaboração de uma revisão bibliográfica sobre a recidiva ortodôntica em sujeitos com respiração bucal, dando especial atenção às características clínicas que permitem a identificação do respirador oral, por forma a contribuir para um diagnóstico mais atempado e, consequentemente, para uma maior eficácia do tratamento. Com base numa pesquisa efetuada em 5 bases de dados e com a utilização das palavras chave, foi feito um levantamento bibliográfico da literatura considerada relevante para a temática em estudo e uma seleção da mesma, de acordo com o seu nível de evidência cientifica. A respiração bucal é um dos múltiplos fatores etiológicos de instabilidade dentária que está na origem da recidiva ortodôntica, pelo que é necessária uma intervenção adequada e eficaz com o intuito de minimizar as consequências decorrentes da respiração bucal, antes de qualquer procedimento ortodôntico. O tratamento deve ser multidisciplinar, com associação de várias áreas, entre elas a Ortodontia, a terapia miofuncional, a otorrinolaringologia, e a ortopedia funcional dos maxilares e o diagnóstico precoce é de relevada importância para o sucesso do mesmo.
Resumo:
Ojoplano (opo) is a vertebrate-specific gene that was first identified in medaka fish as a recessive mutant, showing both neural crest defects and a failure of optic cup folding. In humans, this gene is associated with genetic diseases including hereditary craniofacial malformations and schizophrenia. It is localized in a 2Mb gene desert flanked by insulator sequences, between the genes SLC35B and TFAp2a. This region, syntenic between all vertebrates, represents only 2% of chromosome 6. However, it includes 23% of the all conserved cis-regulatory elements in this chromosome. Using transgenesis assays in zebrafish, we screened the enhancer activity of this locus and obtain a collection of nine enhancers. These regulatory elements were all conserved from human to teleosts and showed epigenetic marks for enhancer activity. We could associate multiple enhancers with ororfacial celfting disease and in order to explore the functionality of the enhancers, we performed a bioinformatics analysis to search for transcription factor bindings in the enhancer sequences. In terms of gene regulation we observe that H6:10137 opo enhancer has two Vsx2 binding sites and that this transcription factor regulates the expression of opo during eye development. Our findings suggest that the regulation of Vsx2 over opo is essential for optic cup folding. So far, there is no clear connection between optic cup patterning and morphogenesis. Vsx2 provides this link by controlling the expression of opo.
Resumo:
Tese de doutoramento, Ciências Biomédicas, Departamento de Ciências Biomédicas e Medicina, Universidade do Algarve, 2015
Resumo:
Congenital vertebral malformations are common in brachycephalic “screw-tailed” dog breeds such as French bulldogs, English bulldogs, Boston terriers, and Pugs. Those vertebral malformations disrupt the normal vertebral column anatomy and biomechanics, potentially leading to deformity of the vertebral column and subsequent neurological dysfunction. The initial aim of this work was to study and determine whether the congenital vertebral malformations identified in those breeds could be translated in a radiographic classification scheme used in humans to give an improved classification, with clear and well-defined terminology, with the expectation that this would facilitate future study and clinical management in the veterinary field. Therefore, two observers who were blinded to the neurologic status of the dogs classified each vertebral malformation based on the human classification scheme of McMaster and were able to translate them successfully into a new classification scheme for veterinary use. The following aim was to assess the nature and the impact of vertebral column deformity engendered by those congenital vertebral malformations in the target breeds. As no gold standard exists in veterinary medicine for the calculation of the degree of deformity, it was elected to adapt the human equivalent, termed the Cobb angle, as a potential standard reference tool for use in veterinary practice. For the validation of the Cobb angle measurement method, a computerised semi-automatic technique was used and assessed by multiple independent observers. They observed not only that Kyphosis was the most common vertebral column deformity but also that patients with such deformity were found to be more likely to suffer from neurological deficits, more especially if their Cobb angle was above 35 degrees.
Resumo:
O presente relatório é resultado do estágio curricular, 11º semestre do Mestrado Integrado em Medicina Veterinária. Este decorreu em duas instituições de referência veterinária em Barcelona (Hospital ARS Veterinária e Hospital Veterinari Montjuïc) e permitiu melhorar e integrar os conhecimentos adquiridos ao longo do curso. O relatório é composto por três partes: introdução, que situa temporal e espacialmente, relatório de casuística, que abrange todas as atividades realizadas e assistidas, e monografia. A monografia consiste na descrição de uma afeção neurológica, muito comum em Cavalier king charles spaniel, designada de siringomielia. A monografia inicia-se com uma revisão bibliográfica e termina com o relato de quatro casos clínicos acompanhados no Hospital ARS Veterinário; ABSTRACT: Small animal practice This report is the result of the traineeship in the 11th semester of the Integrated Master degree in Veterinary Medicine. It took place in two veterinary reference institutions in Barcelona (hospital ARS veterinary and hospital Veterinari Montjuïc) and contributed to improve and integrate the knowledge acquired throughout the course. The report consists in three parts: Introduction, which locates temporally and spatially, the sample report covering all activities, and monograph. The monography is the description of a neurological disorder, very common in Cavalier king charles spaniel, designated syringomyelia. The monography begins with a literature review and ends with the description of four clinical cases followed in ARS veterinary hospital.