Análise comparativa entre a influência da amamentação e hábitos bucais deletérios no crescimento craniofacial / Comparative analysis between the influence of breastfeeding and deleterial oral habits on craniofacial growth

A adoção da chupeta e mamadeira pelos pais podem trazer problemas no desenvolvimento craniofacial da criança. A sucção digital é outro fator influenciador da má formação da face, este pode ser antecedido pela mamadeira e chupeta. O conhecimento sobre o desenvolvimento facial correto ajuda no reconhecimento de desvios da normalidade. Foi realizada uma revisão da literatura a fim de analisar e comparar os efeitos no crescimento facial entre os hábitos deletérios e a amamentação fisiológica. Muitos registros de malformações causadas por hábitos deletérios foram encontrados. Conclui-se que a amamentação natural ainda é a melhor forma de alimentação para crianças, e nenhuma outra opção será melhor que a fisiológica, sendo aconselhável evitar o uso dos demais(AU)

The adoption of pacifiers and bottles by parents can bring problems in the child's craniofacial development. Finger sucking is another factor influencing the malformation of the face, which can be preceded by the bottle and pacifier. Knowledge about correct facial development helps in recognizing deviations from normality. A literature review was carried out in order to analyze and compare the effects on facial growth between harmful habits and physiological breastfeeding. Many records of malformations caused by deleterious habits were found. It is concluded that natural breastfeeding is still the best form of feeding for children, and no other option will be better than the physiological one, being advisable to avoid the use of the others(AU)

Research progress on the regulation of craniofacial development and malformation by fibroblast growth factor 8 / 口腔疾病防治

@#Fibroblast growth factor 8 (FGF8) is a kind of secretory polypeptide that has crucial roles in the development of various tissues and organs. Current studies have found that FGF8 can regulate the differentiation of cranial neural crest cells by activating the mitogen-activated protein kinase (MAPK) signaling pathway and affect the establishment of mandibular arch polarity and the development of craniofacial symmetry by regulating the expression of target genes. Cleft lip with or without cleft palate, ciliopathies, macrostomia and agnathia are four developmental malformations involving the craniofacial region that seriously affect the quality of life of patients. The abnormal FGF8 signal caused by gene mutation, abnormal protein conformation or expression is closely related to the occurrence of craniofacial malformations, but the molecular mechanism and signaling pathway underlying these malformations have not been fully elucidated. Craniofacial development is a complex process mediated by a variety of signaling molecules. In the future, the role of various signaling molecules in craniofacial development and malformations need to be explored to provide a new perspective and vision for the prevention and treatment of these craniofacial malformations.

Hey1 gene expression patterns during the development of branchial arches and facial prominences / Patrones de expresión del gen Hey1 durante el desarrollo de arcos branquiales y prominencias faciales

ABSTRACT Objective. The present study aimed to describe in detail the expression patterns of the gene Hey1, an effector of the Notch pathway, during the development of branchial arches and facial prominences. Materials and methods. Fertilized chicken (Gallus gallus) eggs obtained from a local egg farm were incubated at 37.5 -38.5ºC with 70% relative humidity until the embryos reached Hamilton-Hamburger stages HH14 through HH25. Digoxigenin-UTP labeled probes Hey1 were generated from linearized plasmids with either T3 polimerase for in vitro transcription. Whole-mount in situ hybridization was then performed. At least 3 replicates (n=3) were obtained for each stage. To confirm the results observed in whole embryos, sagittal and coronal cryosectioning was performed using a thickness of 10 µm. Results. During developmental stages HH14 and HH18, Hey1 gene expression was localized to the endoderm of branchial pouches. Hey1 gene expression was also observed in the epithelium that covers the maxillary and mandibular prominences during developmental stages HH19 and HH21, as well as in the nasal epithelium between HH19 and HH25. Transcripts were also detected in the epithelium that covers the frontonasal prominence during stage HH21. Conclusions. These expression patterns suggest the participation of this component of the Notch signaling pathway in craniofacial morphogenesis, possibly establishing pharyngeal segmentation patterns during early stages and/or regulating cell proliferation and differentiation during the late stages of facial development.

RESUMEN Objetivo. El presente estudio tuvo como objetivo describir detalladamente los patrones de expresión del gen Hey1, un efector de la vía Notch durante el desarrollo de arcos branquiales y prominencias faciales. Materiales y métodos. Se incubaron huevos fertilizados de pollo (Gallus gallus) obtenidos de una granja local entre 37.5-38.5ºC con humedad relativa del 70% hasta que los embriones alcanzaron los estadios HH14 hasta HH25 de Hamilton-Hamburger. Las sondas Hey1 marcadas con digoxigenina-UTP se generaron a partir de plásmidos linearizados con T3 polimerasa por transcripción in vitro. Luego se realizó hibridación in situ sobre embriones completos. Se obtuvieron al menos 3 repeticiones (n=3) para cada estadio. Para confirmar los resultados observados en embriones completos, se realizaron cortes sagitales y coronales de 10 µm. Resultados. Durante los estadios de desarrollo HH14 y HH18, la expresión del gen Hey1 se localizó en el endodermo de las bolsas branquiales. La expresión génica de Hey1 también se observó en el epitelio que cubre las prominencias maxilares y mandibulares durante las etapas de desarrollo HH19 y HH21, así como en el epitelio nasal entre HH19 y HH25. También se detectaron transcritos de Hey1 en el epitelio que cubre la prominencia frontonasal durante la etapa HH21. Conclusiones. Estos patrones de expresión sugieren la participación de este componente de la vía de señalización Notch en la morfogénesis craneofacial, posiblemente estableciendo patrones de segmentación faríngea durante las primeras etapas y / o regulando la proliferación y diferenciación celular durante las últimas etapas del desarrollo facial.

Breathing mode influence on craniofacial development and head posture / Influência do modo de respiração sobre o desenvolvimento craniofacial e a postura da cabeça

Abstract Objective The incidence of abnormal breathing and its consequences on craniofacial development is increasing, and is not limited to children with adenoid faces. The objective of this study was to evaluate the cephalometric differences in craniofacial structures and head posture between nasal breathing and oral breathing children and teenagers with a normal facial growth pattern. Method Ninety-eight 7-16 year-old patients with a normal facial growth pattern were clinically and radiographically evaluated. They were classified as either nasal breathing or oral breathing patients according to the predominant mode of breathing through clinical and historical evaluation, and breathing respiratory rate predomination as quantified by an airflow sensor. They were divided in two age groups (G1: 7-9) (G2: 10-16) to account for normal age-related facial growth. Results Oral breathing children (8.0 ± 0.7 years) showed less nasopharyngeal cross-sectional dimension (MPP) (p = 0.030), whereas other structures were similar to their nasal breathing counterparts (7.6 ± 0.9 years). However, oral breathing teenagers (12.3 ± 2.0 years) exhibited a greater palate length (ANS-PNS) (p = 0.049), a higher vertical dimension in the lower anterior face (Xi-ANS-Pm) (p = 0.015), and a lower position of the hyoid bone with respect to the mandibular plane (H-MP) (p = 0.017) than their nasal breathing counterparts (12.5 ± 1.9 years). No statistically significant differences were found in head posture. Conclusion Even in individuals with a normal facial growth pattern, when compared with nasal breathing individuals, oral breathing children present differences in airway dimensions. Among adolescents, these dissimilarities include structures in the facial development and hyoid bone position.

Resumo Objetivo A incidência da respiração anormal e de suas consequências no desenvolvimento craniofacial aumenta e não é limitada a crianças com fácies adenoideanas. O objetivo deste estudo foi avaliar as diferenças cefalométricas nas estruturas craniofaciais e na postura da cabeça entre crianças e adolescentes com respiração nasal e respiração bucal com padrão de crescimento facial normal. Método 98 pacientes com idades entre 7-16 anos com padrão de crescimento facial normal foram avaliados de forma clínica e radiológica. Eles foram classificados como pacientes com respiração nasal ou respiração bucal de acordo com a predominância do modo de respiração por meio da avaliação clínica e histórica e da predominância da frequência respiratória conforme qualificado por um sensor de fluxo de ar. Os pacientes foram divididos em duas faixas etárias (G1: 7 a 9) (G2: 10 a 16) para contabilizar o crescimento normal facial relacionado à idade. Resultados As crianças com respiração bucal (8,0 ± 0,7 anos) mostraram menor dimensão transversal nasofaríngea (MPP) (p = 0,030), ao passo que outras estruturas foram semelhantes a seus pares com respiração nasal (7,6 ± 0,9 anos). Contudo, os adolescentes com respiração bucal (12,3 ± 2,0 anos) mostraram maior comprimento do palato (espinha nasal anterior-espinha nasal posterior [ENA-ENP]) (p = 0,049), maior dimensão vertical na menor face anterior (Xi-ENA-Pm) (p = 0,015) e menor posição do osso hioide a respeito do plano mandibular (H-PM) (p = 0,017) do que seus pares com respiração nasal (12,5 ± 1,9 anos). Não foram constatadas diferenças estatisticamente significativas na postura da cabeça. Conclusão Mesmo em indivíduos com padrão de crescimento facial normal, em comparação com indivíduos com respiração nasal, as crianças com respiração bucal apresentam diferenças nas dimensões das vias aéreas. Entre os adolescentes, essas dissimilaridades incluem estruturas no desenvolvimento facial e na posição do osso hioide.

New insight of craniofacial and oral findings of the RASopathies / 中华口腔医学杂志

The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), NS with multiple lentigines (NSML), neu-rofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Although the crani-ofacial features have been well described and can aid in clinical diagnosis, the dental phenotypes have not been analysed in detail for each of the RASopathies. In this review, we summarize the clinical features of the RASopathies, highlighting the reported craniofacial and dental findings.

Rol de la vía de señalización notch durante el desarrollo de estructuras craneofaciales / The role of notch signaling pathway in the development of craniofacial structures

La vía de señalización NOTCH es un mecanismo de señalización célula-célula conservado evolutivamente entre las especies, el cual es indispensable para un correcto desarrollo embrionario, mediando una variedad de procesos celulares como proliferación, diferenciación, apoptosis, transformación epitelio- mesénquimal, migración, angiogénesis, mantenimiento de células madre y definición de destino celular. Varios genes componentes de esta vía han sido implicados en el desarrollo de estructuras craneofaciales. El 80% de los pacientes con síndrome de Alagille, presentan mutaciones en el gen que codifica para el receptor Jagged1 (Jag1), acompañado de hipoplasia del tercio medio facial y de craneosinostosis esporádica. Ratones con mutaciones homocigotas en el gen Jagged2 (Jag2) presentan paladar hendido, como resultado de fusiones ectópicas entre la lengua y los procesos palatinos. Por otro lado, mutaciones inducidas en el gen Hes1 generan defectos en el desarrollo de estructuras craneofaciales, derivadas de las células de la cresta neural craneal (CCNC) que incluyen: paladar hendido, agenesia del hueso frontal, malformación de base craneal y disminución en el tamaño del maxilar superior e inferior. Recientes estudios han evidenciado alteraciones durante la morfogénesis dental de ratones mutantes Jagged2-/-, acompañada de defectos en la citodiferenciación de ameloblastos y deficiente deposición de matriz de esmalte. Estos estudios muestran cómo la vía de señalización NOTCH está implicada en el desarrollo de una variedad de estructuras craneofaciales como paladar, dientes, maxilares y cráneo. Por esta razón, el propósito del presente artículo es presentar una revisión de las diferentes funciones de la vía NOTCH durante el desarrollo de estas estructuras craneofaciales, y de las alteraciones resultantes cuando existen mutaciones en algunos genes componentes de la vía NOTCH, como Jagged2, Jagged1, Hes1, Notch1 y Notch2.

Actividad de los genes tipo MSX-1 durante el desarrollo craneofacial / Activity of MSX-1 type genes during craniofacial development

El gen MSX-1 es un miembro de la familia de genes homeobox MSX que cumple múltiples funciones durante el proceso de organogénesis. Este gen es expresado en sitios donde son requeridas interacciones epitelio-mesénquima y parece tener una función importante en el control del desarrollo craneofacial y dental, como lo demuestran los múltiples estudios en ratones y humanos. Este artículo revisa diferentes estudios con el objetivo de identificar las interacciones fisiológicas y patológicas de MSX-1 durante los diferentes estadíos de desarrollo craneofacial y dental.

MSX-1 gene is a member of the MSX homeobox gene family and it has different functions during the organogenesis process. This homeobox gene is expressed in sites where epithelium-mesenchyme interactions are required. It also seems to have an important activity controlling dental and craniofacial development, as investigated in human and murine models. The following article reviews severasl studies in order to identify MSX.1 relationships with dental and craniofacial development.