ABSTRACT
Antecedentes: La Descodificación Biológica propone la correspondencia entre el estrés ante una situación desbordante y la aparición de síntomas. La ciencia ha logrado profundizar en los componentes biológicos de los trastornos del desarrollo que podrían explicar lo queocurre en algunos preceptos de esta teoría. Objetivo: Determinar a partir de la revisión de literatura científica, la relación entre el estrés y algunas hormonas, con las alteraciones craneofaciales. Materiales y métodos: Se realizó una búsqueda en SciELO, PubMed y SCOPUS buscando artículos relacionados conel estrés, trastornos fisiológicos y esqueléticos y la hormona de crecimiento. Resultados: Se encontraron 17 artículos que relacionan el estrés con alteraciones fisiológicas, 18 artículos que muestran del el papel de los el estrés en el sistema nervioso central y la alteración de la hormona de crecimiento, además 16 artículos que relacionan la hormona de crecimiento con alteraciones esqueléticas craneofaciales. Conclusión: Se encontró evidencia que muestran cómo algunos supuestos de la teoría de la "Descodificación biológica" pueden ser explicados a partir del papel del estrés y de los estresores que podrían estimular respuestas a nivel del sistema nervioso central y llevar a cambios en estructuras óseas en pacientes en periodo de crecimiento o maduración ósea.
Background: Biological Decoding proposes the correspondence between stress in an overwhelming situation and the appearance of symptoms. Science has managed to investigate into the biological components of developmental disorders that could explain what happens in some precepts of this theory. Objective: To determine from the review of scientific literature, the relationship between stress and some hormones, with craniofacial alterations.Materials and methods: A search was carried out in SciELO, PubMed and SCOPUS looking for articles related to stress, physiological and skeletal disorders and growth hormone. Results: 17 articles were found that relate stress with physiological alterations, 18 articles that show the role of stress in the central nervous system and alteration of growth hormone, in addition 16 articles that relate growth hormone with alterations craniofacial skeletal. Conclusion: Evidence was found that shows how some assumptions of the "biological decoding" theory can be explained from the role of stress and stressors that could stimulate responses at the level of the central nervous system and lead to changes in bone structures in patients in a period of bone growth or maturation.
ABSTRACT
A acondroplasia é a forma mais comum de nanismo por encurtamento dos membros. É uma síndrome hereditária de caráter autossômico dominante, que também pode ser causada por novas mutações genéticas. A formação óssea endocondral é defeituosa e leva a alterações craniofaciais e dentárias típicas. Os pacientes acometidos apresentam macroencefalia, calota craniana volumosa, base do crânio encurtada, nariz em sela e estreitamento de vias aéreas, além de retrognatia maxilar, discrepância entre arcos dentários e maloclusões acentuadas. O presente artigo tem como objetivo apresentar as características craniofaciais e dentárias de pacientes acondroplásicos, por meio de revisão de literatura.
Achondroplasia is the most common hereditary form of dwarfism. The syndrome is inherited in an autosomal dominant manner but it can also be a result of a new gene mutation. The defective endochondral bone formation causes typical craniofacial and dental features such as enlarged calvarium, short posterior cranial base, depressed nasal bridge, short upper airway, retrognathic maxilla and malocclusion. The aim of the present article is to introduce the craniofacial and dental features of achondroplastic patients, by reviewing the literature.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Achondroplasia/diagnosis , Achondroplasia , Craniofacial Abnormalities/genetics , Tooth Abnormalities/genetics , Dwarfism/diagnosis , Dwarfism/metabolism , Growth Disorders/geneticsABSTRACT
OBJETIVO: esse artigo tem como objetivo ser uma fonte de informação acerca das técnicas e análises genéticas mais utilizadas em investigações clínicas e laboratoriais visando a identificação e a caracterização de genes relacionados a doenças ou distúrbios complexos, especialmente os que atingem as estruturas do crânio e da face. METODOLOGIA: são traçadas algumas diretrizes para guiar os futuros pesquisadores nos processos de seleção de amostras e obtenção de heredogramas para estudos genéticos e fornecidos conceitos e princípios gerais que norteiam métodos de análises genéticas. Tais métodos exigem conhecimento a respeito de transmissão gênica, genética molecular e utilização de marcadores moleculares, assim como envolvem o domínio de técnicas laboratoriais como, por exemplo, reações de polimerização em cadeia (PCR), eletroforese e seqüenciamento de DNA. RESULTADOS E CONCLUSÕES: as análises genéticas, em especial as análises de segregação e de ligação, representam importantes ferramentas à disposição dos pesquisadores na tentativa de relacionar fenótipos a genes específicos e na busca da exata localização cromossômica dos mesmos. Espera-se com esse artigo que os cirurgiões-dentistas clínicos possam começar a perceber a importância do assunto e buscar se aprofundar nessa área.
AIM: The aim of this paper is to inform the reader about genetic techniques and analysis used in clinical and laboratorial investigations for the identification and characterization of the genetic determinants for complex disorders, especially those that attain craniofacial structures. METHODS: General concepts and principles of important methods of genetic analysis are given as well as some guidelines for future researchers, concerning sample gathering and pedigrees construction. These methods described here require knowledge about genetic transmission, molecular genetics and DNA markers, and involve the ability to deal with the current laboratorial techniques, including polymerase chain reactions, agarose or polyacrilamide gel and the use of DNA sequencers. RESULTS AND CONCLUSIONS: Those genetic analysis, mainly the segregation and the linkage analysis, are considered important tools in the attempt to make the relationship between some phenotypes and specific genotypes, and to search for the exact chromosomal localization of each one of these genes. The knowledge of these information can help clinical dentists to understand the important role played by genetics, leading them to get deeper into the subject.
Subject(s)
Craniofacial Abnormalities/etiology , Craniofacial Abnormalities/genetics , Skull/growth & development , Genetics, Medical/trends , Orthodontics/trendsABSTRACT
Craniosynostosis occurs in approximately 1:2000 live births. It may affect the coronal, sagittal, metopic and lambdoid sutures in isolation or in combination. Although non-syndromic synostoses are more common, over 150 genetic syndromes have been identified. Recent advances in genetic mapping have linked chromosomal mutations with craniosynostotic syndromes. Despite the identification of these genetic mutations, the fundamental biomolecular mechanisms mediating cranial suture biology remain unknown. Today, many laboratories are investigating murine cranial suture biology as a model for human cranial suture development and fusion. Normal murine cranial suture biology is very complex, but evidence suggests that the dura mater provides the biomolecular blueprints (e.g. the soluble growth factors), which guide the fate of the pleuripotent osteogenic fronts. While our knowledge of these dura-derived signals has increased dramatically in the last decade, we have barely begun to understand the fundamental mechanisms that mediate cranial suture fusion or patency. Interestingly, recent advances in both premature human and programmed murine suture fusion have revealed unexpected results, and have generated more questions than answers.