Introduction: The Modified Mallampati Tongue score is a quick and reliable method commonly used in anesthesiology to assess airway patency and predict the ease of intubation. Modified Mallampati Tongue scores range from I – IV with higher Mallampati scores being associated with more difficult intubations as well as increased sleep-disordered breathing, such as obstructive sleep apnea. The Mallampati Tongue score is determined by visibility of the oropharynx when the mouth is opened as wide as possible with the tongue maximally protruded and is directly affected by the position of the tongue. The tongue is an influential muscle to the craniofacial complex; it plays an essential role in the development of the dentoalveolar structures, and its position affects airway volume which influences natural head posture, which influences craniofacial growth. Objective: The primary aims of this study were to identify if any associations exist between Modified Mallampati Tongue scores (I-IV) and 1) craniofacial sagittal and vertical relationships of the jaws and 2) craniofacial head posture (including the postural relationships of the cervical vertebrae, hyoid bone, cranium, and tongue). A secondary aim was to identify if any associations exist between Modified Mallampati Tongue score and age, sex, or race/ethnicity. Methods: This retrospective study included 400 subjects from the Temple University Kornberg School of Dentistry Department of orthodontics who had pre-orthodontic treatment diagnostic records obtained from June 1st 2020 through September 1st 2021. Each patient’s Modified Mallampati Tongue score (I-IV) was recorded in an intraoral photograph of maximum mouth opening with tongue protrusion. All lateral cephalograms were traced in Dolphin Imaging and Amira Morphometrics Software by two examiners tracing 200 subjects each. The craniofacial morphological features were analyzed through the Steiner, Wits, and McNamara analyses for assessment of the sagittal relationships of the maxilla and mandible and by the Jarabak analysis for assessment of the vertical relationships and divergence. Craniofacial head posture was assessed through an analysis that represents the postural relationships of the cervical vertebrae, cranium, length/height of the tongue, and position of the hyoid bone. For statistical analysis, One-way ANOVA, Pearson’s correlation, and Chi-square tests were conducted. Probability values of <0.05 were considered significant. Results: Overall, this study included 400 subjects with ages ranging from 7-73 years old (mean age of 17.99 years), of which there were 288 females (72%) and 112 males (28%). Of the 400 subjects, 60% (241) were African American, 32% (127) Hispanic, 7% (26) Caucasian, and 2% (6) Asian. The most prevalent Modified Mallampati Tongue Score was III (142 subjects, 36%). Out of all of the craniofacial morphology and head posture variables compared against Modified Mallampati Tongue scores (I-IV), significant findings from the one-way ANOVA tests included vertical position of the hyoid bone to the neck, vertical position of the hyoid bone to the mandible, ANB, and Wits values. Higher Mallampati Tongue scores were associated with higher ANB and higher Wits values. Greater Mallampati scores were associated with increased vertical distance of the hyoid bone to the mandible and to the neck, meaning a lower position of the hyoid bone. In addition, correlations that were statistically significant given a 95% confidence interval, included significant positive correlations between Mallampati Tongue score and increased ANB, Wits, and distance of the hyoid to the mandible and to the neck. Pearson’s Correlation Index also showed a significant negative correlation between Mallampati Tongue scores and craniofacial morphology values for SNB and pogonion to nasion-perpendicular, showing that increased Modified Mallampati Tongue scores correlate with more retrognathic mandibles. When evaluating the results of the Chi-Square analyses, there were no significant differences between Modified Mallampati Tongue score and race/ethnicity or age, but there was a significant difference between genders showing that women were more likely to have lower Mallampati Tongue scores than men. Inter-examiner and intra-examiner reliability for the craniofacial head posture measurements, craniofacial morphology measurements, and Modified Mallampati Tongue scores were excellent (correlation coefficients: 0.84 – 0.99). Conclusions: This study reveals that a higher Modified Mallampati Tongue score correlates with higher ANB and Wits values, meaning that higher Modified Mallampati Tongue scores are associated with a Skeletal Class II relationship of the jaws, which could be due to retrognathic mandibular growth. In addition, a higher Modified Mallampati Tongue score is significantly associated with increased distance of the hyoid bone to the mandible and to the neck. This study also found women more likely to have lower Modified Mallampati Tongue scores than men. The results of this study allude to the potential for Mallampati Tongue scores to be used as predictors of Class II skeletal sagittal growth which would ultimately help with orthodontic treatment planning decisions and enhance overall treatment outcomes. / Oral Biology

Este estudo objetivou aprofundar o conhecimento sobre a morfologia óssea craniofacial de jovens com Paralisia Cerebral, e associá-la ao comprometimento funcional geral e a função motora orofacial. Utilizamos uma amostra pareada por gênero e idade, constituída de 21 adolescentes com Paralisia Cerebral (GE) com idade média de 14,7(2,6) anos para o gênero feminino e 13,9(2,8) anos para o gênero masculino, e 22 adolescentes normorreativos (GC) com idade média de 14,6(2,6) anos para o gênero feminino e 14,8 (3,8) anos para o gênero masculino. Foram realizadas análises das imagens obtidas por Tomografia Computadorizada Feixe Cônico e software OsiriX, através da mensuração de medidas lineares e angulares. A avaliação da função motora geral foi dada pela aplicação do instrumento Gross Motor Functional Classification System (GMFCS). O instrumento para avaliação da motricidade oral aplicado neste estudo foi o OMAS (Oral Motor Assessment Scale). Quando comparado os grupos estudo e controle, as medidas que exibiram valores estatisticamente significantes foram Co-Pg (p=0,060), ENA-N (p=0,2), N-Me (p=0,088), N.A.Pg (p=0,04) e S.N.B (p=0,11). O GE apresentou uma tendência de perfil mais convexo, indicado pelo ângulo N.A.Pg, menor do que no GC (GE:168,48 (8,05)/GC:172,77(5,21)). A medida Co-Pg menor (GE:106,36(6,08)/GC:107,94(9,45)), analisada juntamente com o ângulo S.N.B menor (GE:79,69(4,24)/GC:81,21(6,33)), indicam a mandíbula ligeiramente menor e mais retruída nos adolescentes com PC em relação ao GC. A medida N-B (p=0,035) foi estatisticamente significante e inversamente proporcional ao OMAS. Não houve relação estatisticamente significante entre o comprometimento motor geral e qualquer uma das medidas angulares e lineares no GE. Podemos concluir que a morfologia craniofacial em adolescentes com PC é diversa à de adolescentes normorreativos em algumas medidas, que não houve associação entre comprometimento motor geral e crescimento craniofacial de adolescentes com a PC e que a função motora orofacial de menor score está associada a um rosto mais longo. / This study aimed to deepen understanding of the craniofacial bone morphology of young people with cerebral palsy, and associate it to the general functional impairment and the orofacial motor function. We use a matched sample by gender and age , consisting of 21 adolescents with cerebral palsy (SG) , with a mean age of 14.7 years (2.6) for females and 13.9 years (2.8) for males , and a control group (CG), composed of 23 normoreactive adolescents with a mean age of 14.6 years (2.6) for females and 14.8 years (3.8) for males . Analysis of images obtained by CT Cone Beam and OsiriX software were performed, through the measurement of some linear and angular measurements. The evaluation of overall motor function was given by application of the instrument Gross Motor Functional Classification System (GMFCS). The instrument to evaluate oral motor applied in this study was the OMAS (Oral Motor Assessment Scale). When comparing the study and control groups, the measures showed statistically significant values were Co - Pg (p=0.060), ENA - N (p=0.2), N -Me (p=0.088), NAPg (p=0 04) and SNB (p= 0.11). The SG showed a tendency to a more convex profile, indicated by lower NAPg angle (GE: 168.48 (8.05) / GC: 172.77 (5.21)). The smaller linear measure Co - Pg (GE: 106.36 (6.08) / GC : 107.94 (9.45)) , analyzed along with smaller SNB angle (GE : 79.69 (4.24) / GC : 81.21 (6.33)), indicates a slightly smaller and more retruded mandible in adolescents with CP compared to the CG . NB (p=0,035) was statistically significantly and inversely proportional to the OMAS. There was no statistically significant relationship between generalized motor impairment and any of the angular and linear measurements in SG. We can conclude that the craniofacial morphology in adolescents with CP is different to the normoreactive teens in some measurements , that there was no overall association between motor impairment and craniofacial growth of adolescents with CP and orofacial motor function is associated with a longer face.

Este estudo objetivou aprofundar o conhecimento sobre a morfologia óssea craniofacial de jovens com Paralisia Cerebral, e associá-la ao comprometimento funcional geral e a função motora orofacial. Utilizamos uma amostra pareada por gênero e idade, constituída de 21 adolescentes com Paralisia Cerebral (GE) com idade média de 14,7(2,6) anos para o gênero feminino e 13,9(2,8) anos para o gênero masculino, e 22 adolescentes normorreativos (GC) com idade média de 14,6(2,6) anos para o gênero feminino e 14,8 (3,8) anos para o gênero masculino. Foram realizadas análises das imagens obtidas por Tomografia Computadorizada Feixe Cônico e software OsiriX, através da mensuração de medidas lineares e angulares. A avaliação da função motora geral foi dada pela aplicação do instrumento Gross Motor Functional Classification System (GMFCS). O instrumento para avaliação da motricidade oral aplicado neste estudo foi o OMAS (Oral Motor Assessment Scale). Quando comparado os grupos estudo e controle, as medidas que exibiram valores estatisticamente significantes foram Co-Pg (p=0,060), ENA-N (p=0,2), N-Me (p=0,088), N.A.Pg (p=0,04) e S.N.B (p=0,11). O GE apresentou uma tendência de perfil mais convexo, indicado pelo ângulo N.A.Pg, menor do que no GC (GE:168,48 (8,05)/GC:172,77(5,21)). A medida Co-Pg menor (GE:106,36(6,08)/GC:107,94(9,45)), analisada juntamente com o ângulo S.N.B menor (GE:79,69(4,24)/GC:81,21(6,33)), indicam a mandíbula ligeiramente menor e mais retruída nos adolescentes com PC em relação ao GC. A medida N-B (p=0,035) foi estatisticamente significante e inversamente proporcional ao OMAS. Não houve relação estatisticamente significante entre o comprometimento motor geral e qualquer uma das medidas angulares e lineares no GE. Podemos concluir que a morfologia craniofacial em adolescentes com PC é diversa à de adolescentes normorreativos em algumas medidas, que não houve associação entre comprometimento motor geral e crescimento craniofacial de adolescentes com a PC e que a função motora orofacial de menor score está associada a um rosto mais longo. / This study aimed to deepen understanding of the craniofacial bone morphology of young people with cerebral palsy, and associate it to the general functional impairment and the orofacial motor function. We use a matched sample by gender and age , consisting of 21 adolescents with cerebral palsy (SG) , with a mean age of 14.7 years (2.6) for females and 13.9 years (2.8) for males , and a control group (CG), composed of 23 normoreactive adolescents with a mean age of 14.6 years (2.6) for females and 14.8 years (3.8) for males . Analysis of images obtained by CT Cone Beam and OsiriX software were performed, through the measurement of some linear and angular measurements. The evaluation of overall motor function was given by application of the instrument Gross Motor Functional Classification System (GMFCS). The instrument to evaluate oral motor applied in this study was the OMAS (Oral Motor Assessment Scale). When comparing the study and control groups, the measures showed statistically significant values were Co - Pg (p=0.060), ENA - N (p=0.2), N -Me (p=0.088), NAPg (p=0 04) and SNB (p= 0.11). The SG showed a tendency to a more convex profile, indicated by lower NAPg angle (GE: 168.48 (8.05) / GC: 172.77 (5.21)). The smaller linear measure Co - Pg (GE: 106.36 (6.08) / GC : 107.94 (9.45)) , analyzed along with smaller SNB angle (GE : 79.69 (4.24) / GC : 81.21 (6.33)), indicates a slightly smaller and more retruded mandible in adolescents with CP compared to the CG . NB (p=0,035) was statistically significantly and inversely proportional to the OMAS. There was no statistically significant relationship between generalized motor impairment and any of the angular and linear measurements in SG. We can conclude that the craniofacial morphology in adolescents with CP is different to the normoreactive teens in some measurements , that there was no overall association between motor impairment and craniofacial growth of adolescents with CP and orofacial motor function is associated with a longer face.

Doctor Educationis / This study was a cephalometric and dental investigation of the treatment outcomes of UCLP children treated at the Red Cross Children's Hospital (RCCH) with respect to craniofacial morphology and dental arch relationship. The quality of the outcome for the RCCH group was compared with the outcomes reported for the Six-Centre International Study (Melsted et al., 1992; Mars et al., 1992). The sample consisted of 20 (11 females, 9 males) consecutively treated UCLP children who had cephalometric and dental records taken between the ages of8 to 11years (mean 10.13 ± 1.2 years). The cephalometric analysis described by Melsted et al. (1992) was used to evaluate the skeletal and soft tissue morphology. The quality of the dental arch relationship was measured according to the Gosion Yardstick (Mars et al., 1987). The treatment outcome of children treated at the RCCH was evaluated with respect to craniofacial form and dental arch relationship. When comparing the mean cephalometric skeletal parameters of the RCCH to the six centres in the Eurocleft study, a significant difference was found between the RCCH group and centre D for most of the variables. A significant increase in the upper incisor inclination and maxillary inclination was found in the RCCH patients compared to the European centres. The difference in the soft tissue parameters was limited to the relative protrusion of the nose and the sagittal soft tissue variable sss-ns-pgs. The analysis of the Goslon scores showed a significant difference between the RCCH group and centres C, D, and F. According to the Goslon score, 85% of the RCCH patients had good to satisfactory dental arch relationship, which was comparable to that recorded for centres A(92%), B(89%) and C(94). In conclusion, the results of the cephalometric analysis and the Goslon Yardstick showed a significant difference between the RCCH group and centre D. The GosIon score indicated good quality of the dental arch relationship, which faired favourably with the better centres in the Six Centre Study.

<p>Ancestry is a complex and layered concept, but it must be operationalized for its objective use in genetic studies. Critical decisions in research analyses, clinical practice, and forensic investigations are based on genetic ancestry inference. For example, in genetic association studies for clinical and applied research, investigators may need to isolate one population of interest from a worldwide dataset to avoid false positive results, or in human identification, ancestry inferences can help reveal the identity of unknown DNA evidence by narrowing down a suspect list. Many studies seek to improve ancestry inference for these reasons. The research presented here offers valuable resources for exploring and improving genetic ancestry inference and intelligence toward identity. </p> <p>First, analyses with ‘big data’ in genomics is a resource-intensive task that requires optimization. Therefore, this research introduces a suite of automated Snakemake workflows, <em>Iliad</em>, that was developed to give the research community an easy-to-learn, hands-off computational tool for genomic data processing of multiple data formats. <em>Iliad</em> can be installed and run on a Google Cloud Platform remote server instance in less than 20 minutes when using the provided installation code in the ReadTheDocs documentation. The workflows support raw data processing from various genetic data types including microarray, sequence, and compressed alignment data, as well as performing micro-workflows on variant call format (VCF) files to merge data or lift over variant positions. When compared to a similar workflow, <em>Iliad </em>completed processing one sample’s raw paired-end sequence reads to a human-legible VCF file in 7.6 hours which was three-times faster than the other workflow. This suite of workflows is paramount towards building reference population panels from human whole-genome sequence (WGS) data which is useful in many research studies including imputation, ancestry estimation, and ancestry informative marker (AIM) discovery.</p> <p>Second, there are persistent challenges in ancestry inference for individuals of the Middle East, especially with the use of AIMs. This research demonstrates a population genomics study pertaining to the Middle East, novel population data from Lebanon (n=190), and an unsupervised genetic clustering approach with WGS data from the 1000 Genomes Project and Human Genome Diversity Project. These efforts for AIM discovery identified two single nucleotide polymorphisms (SNPs) based on their high allelic frequency differences between the Middle East and populations in Eurasia, namely Europe and South/Central Asia. These candidate AIMs were evaluated with the most current and comprehensive AIM panel to date, the VISAGE Enhanced Tool (ET), using an external validation set of Middle Eastern WGS data (n=137). Instead of relying on pre-defined biogeographic ancestry labels to confirm the accuracy of validation sample ancestry inference, this research produced a deep, unsupervised ADMIXTURE analysis on 3,469 worldwide WGS samples with nearly 2 million independent SNPs (r2 < 0.1) which provided a genetic “ground truth”. This resulted in 136/137 validation samples as Middle East and provided valuable insights toward reference samples with varying co-ancestries that ultimately affects the classification of admixed individuals. Novel deep learning methods, specifically variational autoencoders, were introduced for visualizing one hundred percent of the genetic variance found using these AIMS in an alternative method to PCA and presents distinct population clusters in a robust ancestry space that remains static for the projection of unknown samples to aid in ancestry inference and human identification. </p> <p>Third, this research delves into a craniofacial study that makes improvements toward key intelligence information about physical identity by exploring the relationship between dentition and facial morphology with an advanced phenotyping approach paired with robust dental parameters used in clinical practice. Cone-beam computed tomography (CBCT) imagery was used to analyze the hard and soft tissue of the face at the same time. Low-to-moderate partial correlations were observed in several comparisons of dentition and soft tissue segments. These results included partial correlations of: i) inter-molar width and soft tissue segments nearest the nasal aperture, the lower maxillary sinuses, and a portion of the upper cheek, and ii) of lower incisor inclination and soft tissue segments overlapping the mentolabial fold. These results indicate that helpful intelligence information, potentially leading towards identity in forensic investigations, may be present where hard tissue structures are manifested in an observable way as a soft tissue phenotype. This research was a valuable preliminary study that paves the way towards the addition of facial hard tissue structures in combination with external soft tissue phenotypes to advance fundamental facial genetic research. Thus, CBCT scans greatly add to the current facial imagery landscape available for craniofacial research and provide hard and soft tissue data, each with measurable morphological variation among individuals. When paired with genetic association studies and functional biological experiments, this will ultimately lead to a greater understanding of the intricate coordination that takes place in facial morphogenesis, and in turn, guide clinical orthodontists to better treatment modalities with an emphasis on personalized medicine. Lastly, it aids intelligence methodologies when applied within the field of forensic anthropology.</p>