Wnt signaling has been shown to have several roles in the development of sensory neurons, particularly in the ophthalmic portion of the trigeminal nerve. Many of these studies have relied on the conclusion that Wnt is necessary but not sufficient for the induction and maintenance of the neural precursor cells that develop in the ophthalmic placode. Wnt had been inhibited in the ophthalmic placode using a dominant negative t-cell factor (TCF) and resulted in the loss of Pax3 expression (indicative of undifferentiated placode cells) in all targeted cells, suggesting a loss of specification/commitment of these cells to the sensory neuron fate. This study aimed to build on that conclusion by identifying the source of Wnt signaling that allowed for the maintenance of these placode cells. To investigate this, chick embryo ex ovo cultures were used and treated with small molecule chemical Wnt inhibitors to globally knock out Wnt signaling. The embryos were then sectioned and stained for cell markers of undifferentiated placode and differentiated neural cells (Pax3 and Islet1, respectively). Also used was a conditional knockout of Porcn, a gene critical to post-transcriptional modification of the Wnt ligand, using Wnt1-cre as a driver; this allowed for the knockout of Wnt secretion from the dorsal neural tube as well as neural crest cells. The data showed a decrease in placode cell differentiation but did not indicate a necessity for Wnt in maintenance of the ophthalmic placode cells—there was no loss of Pax3 expressing cells in the ectoderm. This suggested that maintenance of the ophthalmic placode could be through alternate pathways. Data is also presented describing how loss of Porcn in Wnt1 expressing cells impacts craniofacial development, where the mouse mutant used in this study displayed the absence and underdevelopment of cranial neural crest structures.

Children with cleft lip/palate receive team care which typically ends at eighteen. Young adults then need to transition into an adult centered model of care. A paucity of literature exists regarding their perspective on transition of care experience. This research explores the experiences young adults with CLP regarding their transition of care process, within the person centered ICF framework.

Osteoid osteomas are common, painful, osteoblast tumors that frequently present in adolescents and young adults. Surgical management is indicated for cases with associated symptoms, such as headaches, dizziness, diplopia, proptosis, sinusitis, and facial deformity. The authors report a case of a 15-year-old male with an enlarging frontal sinus osteoma. Virtual surgical planning was utilized to design a KLS Martin Resorbable plate for the graft site, as well as a cutting guide for the graft procedure. A split-calvarial bone graft was used to reconstruct the central bony defect in the anterior table of the frontal sinus. Virtual surgical planning sessions were initiated with KLS Martin biomedical engineers to design a graft. Design cutting guides were created for frontal craniotomy, and an interlocking cutting guide was created for the split calvarial bone graft. The graft was harvested from the non-dominant right parietal hemisphere to best match the curvature of the frontal bone. Post-operatively, the patient has not had any complications to date. This procedure proves to be a valuable consideration for the surgical treatment of pediatric osteomas.

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Temporomandibular disorders (TMD) are comorbid conditions. Most are related to anxiety-induced muscular pain, but some are associated with facial asymmetry resulting from condylar resorption (CR) or condylar hyperplasia (CH). The etiology of the most common forms of CH and CR are still unknown. CR can be caused by rheumatoid arthritis (RA) or more commonly osteoarthritis (OA) of the TMJ, and inflammatory mediators have been previously implicated. Previous studies have identified pain/inflammatory genes related to chronic TMD while others have demonstrated potential genetic markers for RA. Similarly, genome-wide association (GWA) studies have identified genes associated with height, some of which may participate in craniofacial growth, CH, and the development of asymmetry. Masseter muscle is frequently involved in TMD of muscular origin, and left/right fiber-type differences have been previously found in subjects with facial asymmetry. A human transcriptome microarray was used to evaluate whether genes involved with height, pain, or inflammation were differentially expressed in masseter muscle from facially asymmetric patients with and without TMD. This study evaluated orthognathic surgery patients with varying skeletal malocclusions, including subjects with and without facial asymmetry and TMD (n= 93). Masseter muscle samples were collected from ten orthognathic surgery patients treated to correct skeletal malocclusions. Two of whom were classified with facial asymmetry with or without TMD, with one of the two showing positive evidence of CR. Samples were disrupted in QIAzol Lysis Reagent, RNA was isolated using a Qiagen miRNeasy Mini Kit according to the manufacturer's instructions, and quality of the total RNA was tested by Agilent Bioanalyzer and Nanodrop spectrophotometry. Samples were used for quantitative Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) and protocols for microarray analysis were conducted as described in the Ambion WT Expression Manual and the Affymetrix GeneChip Expression Analysis Technical Manual. Principal Components Analysis (PCA) was completed to detect fold-changes for each transcript to determine differences in global gene expression between the two asymmetric and eight remaining subjects. To find differentially expressed transcripts step-up t-tests were performed to correct for false discovery rate (FDR) comparing the two asymmetric samples to the eight symmetric samples. Differences were considered significant if step-up p-values were ±2 between groups. This study evaluated 847 height-related genes and 551 genes associated in pain/inflammatory processes. Genes of interest were determined a priori from GWA studies and the Algynomics Pain Research Panel v.2.0 partially derived from the Orofacial Pain: Prospective Evaluation and Risk Assessment (OPPERA) study. Two hundred and eight transcripts of 847 height associated genes and 132 of 551 pain/inflammatory genes were significant for expression (P±2.0 fold differences in facial asymmetry and/or TMD specimens. Among genes specifically reported to be associated with pain/inflammation, NPY5R (+2.11 fold), GABRA6 (+2.14 fold), CACNA2D1 (-12.51 fold) and EREG (+2.12 fold) showed significantly different (P<0.001) expression levels in the two asymmetric versus the remaining eight symmetric patients. CACNA2D1 expression was significantly increased in symmetric male subjects versus symmetric females (P < 0.05) as well as in asymmetric females versus asymmetric males (P < 0.05). CACNA2D1 expression was also significantly increased in symmetric male subjects versus symmetric females (P <0.05) and was differentially expressed at lower levels, however not significantly, in asymmetric males (p = 0.51). Based on the results collected, the following conclusions were drawn. These methods provide a novel approach to study TMD and/or facial asymmetry in human subjects. To our knowledge, this is the first study to demonstrate that significant expression variation in human height genes may contribute to facial asymmetry with or without TMD, possibly through decreased expression of CACNA2D1. These data suggest TMD patients with facial asymmetry associated with condylar resorption may show significant differential expression of certain inflammatory marker genes such as EREG and CACNA2D1. These data support that gender may play a key role in the development of TMD, possibly through increased CACNA2D1 expression providing protective effects in TMD-free males but deleterious effect in females with TMD. These results support previous findings of pain/inflammatory genes associated with TMD derived from muscular pain. Further studies are needed to understand the genetic contributions to TMD, which may play an important role in future clinical intervention. / Oral Biology

Yes / Craniofacial anthropometry plays an important role in facial structure. This review paper evaluates existing research surrounding population norms of studied facial parameters. The purpose is two-fold: (1) to determine variations in facial measurements due to demi-group or ethnic variations based on traditional (direct) caliper based and image based (indirect) anthropometric methods. (2) to compare where possible, measured facial parameters between referenced studies. Inter and intra-population variations in addition to sexual dimorphism of facial parameters such as the nose and eyes, singularly or in combination with one another, have been concluded. Ocular measurements have exhibited ethnic variations between males and females of the Saudi, Turkish, Egyptian and Iranian group. Moreover, demic variations are reported when the native language has been used a key criterion. It has been concluded that with the current state of migration and inter-demic marriages, the study of homogenous populations will prove difficult. Subsequently, this will result in ambiguous physical traits that are not representative for any one demic or ethnic population. In this paper, results for the following adult male and female populations have been discussed: African American, Azerbaijani, Caribbean, Chinese, Croatian, Egyptian, Italian, Iranian, Turkish, Saudi Arabian, Syrian and South African. The qualitative research presented serves as a knowledge base for learners and strikes up thought provoking concepts about the direction anthropometrical research is heading.

Objetivo: O desenvolvimento da tecnologia em diagnóstico odontológico por imagem através dos Tomógrafos Computadorizados por Feixe Cônico, tornou possível e acessível a avaliação cefalométrica através de reconstruções volumétricas do crânio. Parâmetros baseados em evidências científicas são necessários para implementar o seu uso. Alguns parâmetros utilizados na cefalometria convencional (bidimensional) deverão ser esquecidos, outros deverão ser adaptados, outros, ainda, deverão ser criados. Propomos aqui a criação de um Cefalostato Virtual para orientação do crânio em TC, com a utilização de pontos intracranianos, que são mais estáveis. Também propomos a criação do ponto TS e da linha TS-Pg em substituição ao ponto S e ao eixo Y de crescimento de Downs, respectivamente. Além disso, propomos a linha Ba-Op como referência para casos de assimetria faciais onde não é possível a utilização do plano Horizontal de Frankfurt, em casos, por exemplo, de síndromes que afetem os pontos de referências mais externos. Métodos: 49 crânios pertencentes ao do Museu de Anatomia UNIFESP, foram escaneados em um tomógrafo computadorizado por feixe cônico (TCFC), na clínica ISOOrthographic, São Paulo. As pontuações foram realizadas em dois momentos, com espaçamento de uma semana. Foram calculadas estatisticamente medidas-resumo (média, quartis, mínimo, máximo e desvio padrão). Foram calculadas também as correlações intraclasse e correlações de Pearson entre o Eixo Y (S-Gn) e linha entre os pontos TS e Pg. Resultados: Apesar de se observar uma baixa reprodutibilidade nas coordenadas, para os pontos CE, Pg e Gn, foi observada alta correlação entre as medidas angulares em questão. Para descrever a inclinação do Eixo Y em função da inclinação da Linha TS e Pg adotou-se um modelo de regressão linear simples descrito pela equação abaixo: Ang Sö- Gn = 0,989 Ang TS Pgi i Conclusões: o uso do Cefalostato Virtual na orientação de Crânios em Tomografia Computadorizada é factível e favorece a reprodução do posicionamento craniano; apesar da baixa reprodutibilidade intra observador dos pontos CE, Pg e Gn, novos critérios tridimensionais na definição destes pontos poderiam aumentar a precisão na sua localização; a alta reprodutibilidade intra observador para os pontos Op, TS e N, sugere que os critérios anatômicos próprios das estruturas estudadas favorecem a sua determinação; o ponto TS apresentou maior reprodutibilidade do que o ponto S, embora esta diferença não tenha sido estatisticamente significante, podendo-se substituir o ponto S pelo TS em estudos futuros; existe alta correlação entre a linha entre os pontos TS e Pg e o Eixo Y; a avaliação do comportamento da inclinação da linha orbitomeática (HF) com relação à linha Básio-Opístio sugere que na presença de alterações cranianas este relacionamento propicie auxílio no diagnóstico das alterações craniofaciais. / Objective: The development of new technology in dental diagnosis by cone beam CT (CBCT) image, made possible and accessible the realization of cephalometric evaluation through volumetric reconstructions of the skull. Scientific parameters with evidence-based are needed to implement its use. Some parameters used in conventional cephalometry (2D) maybe need to be forgotten, others should be adapted, and others still to be created. In this research we propose to create a Virtual Cephalostat orientation of the skull in CT, with the intracranial landmarks, because they are more stable. We propose the creation of landmark TS (Tubercle Sella) and the TS-Pg line to replace the landmark S (Sella) and the Y-axis of growth (Downs), respectively. Furthermore, we propose to use the Basion-Opistion line as a reference for cases of craniofacial asymmetry where is not possible to use the Frankfurt horizontal plane, as in some cases of syndromes that affects the most external landmarks. Methods: 49 skulls of Anatomy Museum of UNIFESP Federal University of São Paulo, were scanned in a CBCT. The analyses were performed in 2 stages, within 1-week space. Statistics measurements were calculated (mean, quartiles, minimum, maximum and standard deviation). We also calculated the intraclass correlations (ICC) and the Pearson correlations between the Y axis (S-Gn) and the line between landmarks TS-Pg. Results: Even if there is a low reproducibility in the coordinates for landmarks EC (Ethmoidal Crest), Pg and Gn it was observed a high correlation between the angular measures in question. To describe the inclination of the Y axis according to the slope of the line adopted TS and Pg a simple linear regression model is used, showed by the equation bellow: Ang Sö- Gn = 0,989 Ang TS Pgi i Conclusions: The use of the Virtual Cephalostat in orientation of skulls using CBCT is feasible and facilitates the reproduction of the skull position, despite the low intra observer reproducibility of landmarks EC, Pg and Gn, new 3D criteria in the definition of these landmarks could increase the precision in its location. The high intra observer reproducibility at the landmarks Op, N and TS, suggests that the anatomical criteria themselves promote their reliability; The TS landmark showed a higher reproducibility than the S landmark, even though the difference was not statistically significant, and it should be replaced by the landmark TS in future studies. There is a high correlation between the TS - Pg line and Y-axis. The relationship between the slope of the HF plane and Ba -Op line suggests that in the presence of the alteration of morphology in craniofacial structure, this relationship offer help in the diagnosis of craniofacial changes.