Academic literature on the topic 'Prognathism'

Mandibular prognathism is one of the most concerning subjects in the oral and maxillofacial fields. In our previous studies, we attempted to clarify the etiology of mandibular prognathism. They revealed that one of the major characteristics of mandibular prognathism was the lower volume/length ratio of the mandibular condyle and body compared to normal, and the masseter muscle showed parallelism with this. This study aimed to evaluate the relationship between mandibular prognathism and the lateral pterygoid muscle by measuring the orientation and volume/length ratio of the lateral pterygoid muscle. Computed tomography was used to calculate the volume/length ratio of the lateral pterygoid muscle in 60 Korean individuals. Mimics 10.0 and Maya version 2018 were used to reconstruct the surface area and surface planes. The results showed that the prognathic group showed smaller lateral pterygoid volume/length ratios compared to the normal group (p < 0.05). In addition, the normal group displayed a larger horizontal angle (p < 0.05) to the mandibular and palatal planes than the prognathic group. This demonstrated that the mechanical drawback of the lateral pterygoid in the prognathic group is associated with mandibular prognathism.

Introduction Mandibular retrognathism is considered to be the most important risk factor for upper airway obstruction. Aim This cross-sectional study intended to examine the relationship between craniofacial morphology and the pharyngeal airway space (PAS) in patients with mandibular retrognathism and mandibular prognathism, when compared to normal subjects. The study also analyzed the influence of mandibular morphology on pharyngeal length (PL). Materials and Methods The PAS was assessed in 92 females (age 15-30 years) further divided into three groups - Group 1- normal mandible (76°≤ SNB ≤82°; n = 31); Group 2-mandibular retrognathism (SNB <76°; n = 31); Group 3-Mandibular prognathism (SNB >82°; n = 30). All subjects were examined by lateral cephalometry with head position standardized using an inclinometer. Craniocervical angulation, uvula length, thickness and angulation were compared among different groups. Results The results showed no statistically significant difference in the pharyngeal airway between the three groups. Measurements of PL showed statistically significant higher values for retrognathic mandible group than normal and prognathic mandible group. Conclusion There is no significant difference between PAS between patients with mandibular retrognathism, normal mandible and mandibular prognathism. Mandibular retrognathism patients show a significantly higher uvula angulation than patients with mandibular prognathism. Craniocervical angulation showed maximum value in retrognathic mandible group followed by normal and prognathic mandible group respectively. Mean PL for retrognathic mandible patients was significantly higher than prognathic mandible patients.

Mandibular prognathism causes functional and esthetic problems. Therefore, many studies have been conducted to understand its etiology. Following our previous study, which revealed that the major characteristic of the mandible with prognathism is the volume/length ratio of the mandibular body and condyle, we analyzed the volume and orientation of the masseter muscle, which inserts into the mandibular body, expecting that the difference in the size of the masseter muscle causes the difference in the mandibular size. This study compared the masseter muscle of the participants in the prognathic group to those in the normal group on the volume/length ratio and orientation. The masseter muscle ratios (volume/length); the angle between the superficial and deep head of the masseter muscle; and the three planes (the palatal, occlusal, and mandibular) were analyzed. A total of 30 participants constituted the normal group (male: 15, female: 15) and 30 patients, the prognathic group (male: 15, female: 15). The results showed that the volume/length ratio of the masseter of the normal group was greater than that of the prognathic group (p < 0.05). In addition, the orientation of both the superficial and deep head of the masseter of the participants in the normal group was more vertical with respect to the mandibular plane than that of the prognathic group (p < 0.05). We concluded that the mechanical disadvantage of the masseter muscle of the prognathic group is attributed to mandibular prognathism.

ABSTRACT Sagittal split ramus osteotomy (SSRO) is commonly used for treatment of mandibular prognathism. This study evaluated masseter muscle activity using electromyography device, in patients with mandibular prognathism before and after bilateral SSRO of the mandible. Twelve prognathic patients (five males and seven females; mean age 20.6 years) were examined. Initial phase of orthodontic treatment was completed in all included patients. Electromyographic activity of masseter muscle was recorded during maximum voluntary clenching as follows: First evaluation: 7 days prior to surgery, second evaluation: 3 months after surgery and third evaluation: 6 months after surgery. Electro-myography quantities were significantly decreased 3 months after surgery. Electromyographic activity of masseter muscle was recovered to the preoperative level 6 months after bilateral SSRO of the mandible. SSRO of the mandible is a safe technique for correction of mandibular prognathism and not seriously affects masticatory muscle electromyographic activity. How to cite this article Eshghpour M, Danesh Sani SA. Electromyographic Analysis of Masseter Muscle after Surgical Correction of Mandibular Prognathism. Int J Head and Neck Surg 2012;3(3):121-124.

BACKGROUND Facial prognathism may be because of prognathic maxilla, prognathic mandible or aggregate of both. Numerous studies performed to diagnose a single morphological feature commonly producing protrusive relationship, revealed that ‘a single morphological feature does not ordinarily produce a protrusive relationship. Existence of structural imbalance in one area also affects the nature of balance in other areas. A number of separate but inter-related cause and effect factors tend to augment each other in a cumulative and composite manner. Effect of marked discrepancy of an individual’s facial part could be cancelled or nullified by deviation of another part in opposite direction, ultimately resulting in good facial harmony. In this study by means of cephalometric roentgenography, the relation between Angle SNA and Angle NSAr was assessed in Vidharbhites, having normal occlusion, Class II division I and class III malocclusion. METHODS 40 individuals of normal occlusion, Class II division I and Class III Malocclusion, each between 16 and 25 years were analysed. These subjects were selected from patients reporting the outpatient department of Government Dental College, Nagpur. Statistically correlation between angles SNA and NSAr at level of significance 5 % was assessed. RESULTS After data collection a thorough observation & analysis was done and co-relation coefficient between SNA angle & NSAr (F--1.054 M--0.7981), also standard deviation of angular cephalometric measurement between males & females was found out in the population, leading to discussion on topic ‘Facial prognathism is due to maxillary prognathism, mandibular prognathism or combination of both’. In Females SNA was found to be 81 - 800 1.91310 and in males SNA was 82.1660 4. 380 respectively. CONCLUSIONS The results inferred that “Marked part of variation in Angle SNA can be explained by variation in Angle NSAr. KEY WORDS Angle SNA, Angle NSAr, Correlation

Mandibular prognathism is a Class III skeletal base manifestation in which the lower jaw overgrows with or without the upper jaw undergrowing, causing the lower jaw to appear more prominent than the latter. This manifestation results in an unattractive facial profile, misaligned bite, and hampered speech. Several reports suggested that the prevalence rate of mandibular prognathism varies depending on the demographic, and its primary aetiology is genetics. This literature review summarises the prevalence rate of mandibular prognathism in various populations, its inheritance pattern in different pedigree groups, and the loci and candidate genes involved in non-syndromic mandibular prognathism. Most studies show no relationship between gender and phenotypic prevalence, with Caucasians having the lowest prevalence of mandibular prognathism and East Asians having the greatest. The inheritance pattern of mandibular prognathism is diverse, with the most typical inheritance pattern being the dominant trait with incomplete penetrance. Genetic findings from many documented reports suggest that there may be more than a single gene that causes mandibular prognathism. Through genome-wide linkage analyses, several possible chromosomal loci and various candidate genes have been discovered, particularly in patients from the Chinese (FGF12, ADAMTS1, TGFB3, LTBP2, and COL2A1), Japanese (PLXNA2 and SSX2IP), and Korean (Matrilin-1) populations. It was discovered that the majority of the locus variations and candidate genes were expressed during the development of the mandible, which may cause mandibular prognathism.

Introduction/Aim. Patients with mandibular prognathism as dominant symptom have disordered sagittal interjaw relations that make prominent appearance to this dental craniofacial anomaly beside hyperplastic mandibles and inverted front teeth overlap. The aim of this study was to examine the differences in dimensions of sella turcica in patients with mandibular prognathism and in eugnathic. Methods. On profile teleradiographs of 30 eugnathic control and 30 patients with mandibular prognathism, three parameters, which represent dimensions of sella turcica, were measured (surface, width and depth). Results. Statistically significant difference in values between the groups was found. All the three measured parameters were significantly higher in the patients with mandibular prognathism (p < 0.01). Conclusion. In the patients with mandibular prognathism all the measured dimensions of sella turcica were bigger, and so was sella turcica, but that enlargement was not in correlation with the degree of anomaly itself.

Mandibular prognathism is a hereditary condition where there is an excess growth of the mandible in relation to the maxilla that can be associated with maxillary retrusion, mandibular protrusion, or both. Skeletal mandibular prognathism is most prevalent in Eastern Asian populations. This paper focuses on a Korean family with skeletal mandibular prognathism that was inherited through three generations. Apparently, neither mandible nor maxilla is retruded in the affected individuals, but there is a concave facial profile. The dentition has a class I occlusion with skeletal mandibular prognathism, and the only way to treat this case would be orthognathic surgery with the help of orthodontic appliances.

Orientador: Roger William Fernandes Moreira
Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba
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Resumo: O posicionamento adequado dos incisivos é um fator primordial para o sucesso do tratamento ortodôntico cirúrgico. A não descompensação dentária limita a quantidade de correção esquelética, levando a um resultado aquém do ideal. Durante o tratamento ortodôntico pré-operatório os dentes anteriores devem ser movimentados com o objetivo de se evidenciar a discrepância esquelética, posicionando os dentes superiores e inferiores nas respectivas bases ósseas. Após o posicionamento adequado deste grupo de dentes o tratamento do paciente portador de deformidade dentofacial poderá atingir resultados estéticos e funcionais desejados com estabilidade e previsibilidade. O posicionamento dos incisivos superiores e inferiores podem ser avaliados com a análise das seguintes medidas cefalométricas: U1-SN, U1-NA (mm), U1-NA (°), L1-NB (mm), L1-NB (°), IMPA e transpasse horizontal. Em vista dos fatos apresentados, o presente estudo teve como objetivo avaliar as alterações de posicionamento dos incisivos superiores e inferiores decorrentes do preparo ortodôntico pré-operatório em pacientes Classe III submetidos à cirurgia ortognática. Foram avaliados de forma retrospectiva 50 prontuários de pacientes operados no HFSE/MS entre 2007 e 2010. Apenas 24 pacientes se encontravam dentro dos critérios de inclusão do trabalho, destes 8 eram do gênero masculino e 16 do gênero feminino. O posicionamento dos incisivos foi avaliado utilizando a análise cefalométrica de McNamara e o software Dolphin Imaging 10.5 (Dolphing Imaging and Management Solutions, Chatsworth CA, EUA) em 2 períodos distintos: T1 - início do tratamento ortodôntico e T2 - pré-operatório. Foram obtidos dados de outras análises (Steiner, Tweed e Wits) e as normas cefalométricas das análises foram classificadas como 100% para efeito de comparação com os resultados obtidos. O transpasse horizontal, o U1-SN, o U1-NA (mm), o U1-NA (°), o L1-NB (mm), o L1-NB (°) e o IMPA apresentaram em T1 e T2 respectivamente: -233,50% (p<0,0001) e -371,00% (p<0,0001); 110,55% (p<0,0001) e 106,32% (p=0,004); 200,00% (p<0,0001) e 162,50% (p=0,004); 144,27% (p<0,0001) e 119,18% (p=0,042); 164,00% (p=0,002) e 195,25% (p<0,0001); 105,92 (p=0,298) e 121,84 (p=0,001); 94,33% (p=0,006) e 98,84 (p=0,544) se comparados com a normas cefalométricas. Após a análise dos resultados encontrados foi possível afirmar que os incisivos superiores não foram adequadamente descompensados e permaneceram vestibularizados antes do procedimento cirúrgico em relação ao U1-SN, U1-NA (mm) e U1-NA (°), os incisivos inferiores foram adequadamente descompensados em relação ao IMPA e o transpasse horizontal foi alterado entre os momentos estudados em -2,75 mm, em média.
Abstract: The correct position of the incisors is basic for the success of the orthognathic treatment. If the incisors are not right positioned, bone correction will be limited. During initial orthodontic treatment, anterior teeth should be moved in way to appear the bone discrepancy, and both lower and upper incisors should be positioned correctly on their basal bone. After these teeth are in the right place, the treatment of the patient with dentofacial deformities will reach the best esthetic and functional results with stability and foreseeability. The position of the upper and lower incisors can be evaluated throw the analysis of the following cephalometric mesurements: U1-SN, U1-NA (mm), U1-NA (°), L1-NB (mm), L1-NB (°), IMPA and the overjet. Based on facts presented, the purpose of this study was to evaluate the changes in position of the upper and lower incisors due to initial orthodontic treatment on patients Class III that were submitted to orthognatic surgery. We evaluated 50 records of patients operated on HFSE/MS between 2007 and 2010. Only 24 patients were suitable for the research, 8 males and 16 females. Incisors position were evaluated using McNamara analysis and Dolphin Imaging 10.5 software (Dolphing Imaging and Management Solutions, Chatsworth CA, EUA) in 2 different periods: T1 - before the orthodontic treatment and T2 - before orthognatic surgery. Results from other analyses were used (Steiner, Tweed and Wits) and the standards norms from these analyses were classified as 100% to compare with the results obtained. The overjet, U1-SN, U1-NA (mm), U1-NA (°), L1-NB (mm), L1-NB (°) and IMPA were in T1 e T2, respectively: -233,50% (p<0,0001) and -371,00% (p<0,0001); 110,55% (p<0,0001) and 106,32% (p=0,004); 200,00% (p<0,0001) and 162,50% (p=0,004); 144,27% (p<0,0001) and 119,18% (p=0,042); 164,00% (p=0,002) and 195,25% (p<0,0001); 105,92 (p=0,298) and 121,84 (p=0,001); 94,33% (p=0,006) and 98,84 (p=0,544) if we compared with standards cephalometric norms. As conclusion, it is possible to state that upper incisors were not in correct position and were proclined before surgery when related to U1-SN, U1-NA (mm) and U1-NA (°), lower incisors were uprighted when related to IMPA and the overjet were changed between T1 and T2 -2,75 mm, in average.
Doutorado
Cirurgia e Traumatologia Buco-Maxilo-Faciais
Doutor em Clínica Odontológica

Mechanical forces, such as mastication, influence morphological characteristics of the cranium. With varying degrees of prognathism found within and between populations, the ability to accommodate masticatory stress may vary, and this will have profound effects on final craniofacial form. The purpose of this research is a two-fold examination of mid-facial prognathism in modern African males. First, an osteometric and morphological examination of specific areas of the cranium involved in the masticatory apparatus was performed, and its relationship with prognathism assessed. Second, finite element analysis (FEA) was used to interpret the distribution of stress during mastication and the contribution of prognathism to this stress distribution. Two diametrically opposed facial forms (prognathic and orthognathic) were modelled to observe variation in displacement, pressure, and Von Mises stress patterns using linear elastic homogenous isotropic material properties. Boundary conditions simulating muscle contraction of the masseter, medial pterygoid, and temporalis were attributed to the models. A vertical compressive bite-force was applied at the left central incisor and the first molar, respectively. With the use of FEA, differences in the pattern and magnitude of Von Mises stress were noted under simulated mastication. The prognathic model consistently experienced more stress for a molar and incisal bite-force than the orthognathic model. More specifically, the prognathic model accommodated for larger areas of Von Mises stress in the regions of the zygomatic arch, nasal aperture, margins of the orbits, and in the inter-orbital area. As individual muscle forces were modeled, the temporalis and medial pterygoid caused the greatest difference in the stress at the articular eminence between the working and balancing sides. These muscles and their forces should be further investigated to understand their role in temporomandibular joint disorders. Several cranial dimensions were shown to increase or decrease with prognathism. The relationship between the gnathic index and facial parameters were statistically significant for nine cranial and seven dental dimensions. The orthognathic group showed a larger inter-orbital dimension with a subsequent decrease in stress in that area. The upper facial index, maxillary molar crown area and the dental arcade shape demonstrated statistically significant shape changes associated with the degree of prognathism. Morphological analysis did not show a significant distribution in browridge expression and robusticity as a means to accommodate masticatory stress. Stress distribution patterns were correlated with osteometric data and showed a significant difference in inter-orbital breadth between the two groups. Mechanical action of mastication may influence prognathic more than orthognatic facial forms. An orthognatic facial form is biomechanically more efficient under masticatory stress. Mechanical loading during mastication greatly influences the morphological patterns of the facial skeleton. Further investigation into patterns of stress is necessary when changes to the masticatory apparatus arises from clinical involvement, trauma, or as a means to avoid or predict failure in the underlying skeletal architectu
Thesis (PhD)--University of Pretoria, 2014.
Anatomy
unrestricted

Orientador: Valfrido Antônio Pereira Filho, Márcio de Moraes
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba
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Resumo: A configuração e as dimensões da via aérea superior são determinadas pelas estruturas anatômicas como: tecidos moles, musculatura e esqueleto craniofacial, que compõem ou circundam a faringe. As alterações anatômicas dos tecidos moles e/ou do esqueleto craniofacial poderão tornar a via aérea superior (VAS) mais estreita. Estes pontos são os principais fatores etiológicos de um distúrbio cada vez mais diagnosticado na população brasileira conhecida como síndrome da apnéia e hipoapnéia obstrutiva do sono (SAHOS). A cirurgia ortognática, que é utilizada na correção das deformidades dento-esqueléticas, tem se mostrado como o tratamento mais eficiente nos casos graves de SAHOS. Boa parte dos pacientes portadores da síndrome apresenta deformidade dento-esquelética. A síndrome é mais comum nos pacientes portadores de deformidade do tipo classe II. Pacientes com deformidade dento-esquelética de classe III resultante do prognatismo mandibular e/ou deficiência maxilar apresentam uma diminuição da VAS após a cirurgia ortognática de recuo mandibular, embora seja menos tratada na literatura, não deixando claras as consequências dos recuos mandibulares isolados, bem como das cirurgias combinadas de avanço maxilar e recuo mandibular na via aérea superior a longo prazo. Em vista dos fatos apresentados, o presente estudo teve como objetivo avaliar as alterações da via aérea superior em pacientes com deformidade dento-esquelética classe III submetidos à cirurgia ortognática e se há diferença na resposta da via aérea superior quando comparados os gêneros. Para tanto, foi realizada uma avaliação cefalométrica de 45 pacientes divididos em três grupos: grupo 1- cirurgia bimaxilar (23 pacientes); grupo 2- cirurgia de avanço maxilar (15 pacientes) e grupo 3- cirurgia de recuo mandibular (7 pacientes). Desses 45 pacientes, 25 são do gênero masculino e 20 do gênero feminino. A via aérea superior foi avaliada utilizando a análise cefalométrica de Arnett-Gunson FAB-Surgery e o software Dolphin Imaging 11 (Dolphing Imaging and Management Solutions, Chatsworth CA, EUA) em 3 períodos distintos: T0 - pré-operatório; T1 - pós-operatório de 1 semana e T2 - pós-operatório de no mínimo 1 ano. Nos pacientes submetidos à cirurgia bimaxilar houve alteração da VAS no pós-operatório imediato, porém, a longo prazo, a medida da orofaringe voltou ao valor pré-operatório. No grupo 2 existiu um aumento da VAS que se manteve por longo tempo. Nos pacientes submetidos ao recuo mandibular não houve alterações da VAS. Quando se comparou a VAS entre os gêneros, observou-se que tanto os homens quanto as mulheres apresentaram alteração na região da nasofaringe, porém só as mulheres apresentaram uma alteração significativa na aérea da orofaringe. Como conclusão foi possível afirmar que: nos pacientes submetidos à cirurgia bimaxilar o avanço maxilar compensou as alterações na VAS acarretadas pelo recuo mandibular; os pacientes submetidos à cirurgia de recuo mandibular não apresentaram mudanças na VAS; o grupo submetido ao avanço maxilar apresentou um ganho significativo da VAS que se manteve estável pelo período avaliado e que as mulheres registraram alterações na região da nasofaringe e orofaringe, enquanto os homens somente na região da nasofaringe.
Abstract: The configuration and dimensions of the upper airway are determined by the anatomical structures such as soft tissue, muscles and craniofacial skeleton, which comprise or surround the pharynx. Anatomic abnormalities of the soft tissue and/or the craniofacial skeleton may narrow the upper airway leading to obstructive sleep apnea. Class III patients, after orthognathic surgery frequently show a decrease in upper airway which has been less evaluated in the literature. These points are the main factors influencing a disorder increasingly being diagnoses in our population known as obstructive sleep apnea. Orthognathic surgery that is used in the correction of dento-skeletal deformities has been shown to be the most effective treatment in severe cases of obstructive sleep apnea. Many of the patients with the syndrome have dento-skeletal deformities in various degrees. The syndrome is more common in patients with class II deformity. However patients with class III deformity resulting from mandibular prognathism and/or maxillary deficiency after a mandibular setback orthognathic surgery showed a decrease in upper airway which has been less evaluated in the literature. The influence of not making clear the influenced of isolated mandibular setbacks and bimaxillary surgery on the upper airway lacks long-term evaluation. This study aimed to evaluate the changes of upper airway dimensions in patients with class III dento-skeletal deformity treated with orthognathic surgery and the difference in the response of the upper airway between genders. A cephalometric evaluation of 45 patients was performed. The subjects were divided into three groups: group 1 - bimaxillary surgery (23 patients), group 2 - maxillary advancement surgery (15 patients) and group 3 - mandibular setback surgery (7 patients). Of these 45 patients 25 were males and 20 females. The upper airway was evaluated through the cephalometric analysis of Arnett-Gunson FAB-Surgery and the software Dolphin Imaging 11 (Dolphing Imaging and Management Solutions, Chatsworth CA, EUA) in three distinct periods: T0 - preoperative, T1 - one week postoperative and T2 - at least one year postoperative. In patients undergoing bimaxillary surgery we observed changes in the upper airway in the immediate postoperative period, but long-term measures the oropharynx returned to preoperative values. In maxillary advancement there was an increase in the upper airway that remained long-term. In patients who underwent mandibular setback no changes in the upper airway was observed. When comparing the upper airway between the genders we found that both men and women showed abnormalities in the nasopharynx, but only women showed a significant change in the oropharynx area. As conclusion, it was possible to state that: in patients who underwent bimaxillary surgery the jaw advancement compensated the changes of the upper airway brought about by the mandibular setback, the patients who received mandibular setback surgery showed no changes in the upper airway, and the group submitted to maxillary advancement showed a significant increase of the upper airway and that remained stable for the evaluation period. Women had abnormalities in the nasopharynx and oropharynx while men presented abnormalities only in the nasopharynx.
Mestrado
Cirurgia e Traumatologia Buco-Maxilo-Faciais
Mestre em Clínica Odontológica

Ce travail de thèse porte sur l'intégration des structures craniofaciales au sein de la famille des hominidés. Au cours de l'évolution, une réduction du prognathisme et une diminution de la longueur de la face sont observées chez les taxons appartenant au rameau humaine. Cette réduction des structures faciales est associée à une base du crâne plus fléchie et à une mandibule plus gracile. L'objectif de ce travail est de définir le rôle joué par les changements basicrâniens et mandibulaires dans la mise en place de la face courte et droite des humains modernes. Dans ce contexte, les schémas d'intégration liant la face et les autres structures crâniennes (basicrâne et mandibule) ont été décrits et quantifiés dans ce mémoire. Ce travail a été effectué sur la base d'un échantillon de crânes incluant l'ensemble des genres d'hominidés actuels : les humains modernes, les chimpanzés, les gorilles et les orangs-outans. Les crânes ont été préalablement numérisés à l'aide d'un scanner médical. Les schémas d'intégration craniofaciaux ont alors été étudiés à l'aide d'outils statistiques et de méthodes d'analyses en morphométrie géométrique. Ce travail a permis de mettre en avant plusieurs mécanismes d'intégration craniofaciale, propres aux humains modernes. Ces schémas d'intégration spécifiques permettent d'expliquer en grande partie la mise en place de la face réduite des humains modernes. Ces résultats permettent donc d'éclairer les mécanismes d'évolution et de mise en place des structures faciales chez les hominidés et dans le rameau humain
This thesis dissertation is dedicated to the study of craniofacial structures within the hominid family. Throughout evolution, a reduction of facial prognathism and a diminution of the facial length are observed in the taxa which belong to the human lineage. This reduction of facial structures is associated to a more flexed cranial base and to a shorter mandible. The aim of this work is to define the role played by the basicranial and mandibular changes in the set up of the short and straight face of modern humans. In this context, the patterns of integration linking the face and the other cranial structures (basicranium and mandible) are decrypted and quantified in this thesis dissertation. This work has been done with a sample including all the extant hominid genera: modern humans, chimpanzees, gorillas, orang-utans. The skulls were first scanned using a medical scanner. Patterns of craniofacial integration were then studied using statistical tools and geometric morphometric analysis methods. This work underlined several mechanisms of craniofacial integration, unique to modern humans. These specific patterns of integration can explain an important part of the set up of modern humans reduced face. Thus, these results enlighten the evolution mechanisms and the set up of facial structures in hominids and in the human lineage

Orientador: Fausto Berzin
Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba
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Resumo: Objetivos: Avaliar os sinais e sintomas das disfunções temporomandibulares, a dor crônica, a depressão, assim como também avaliar a função muscular dos masseteres e do temporal na mastigação habitual. Todas estas variáveis foram analisadas pré e após cinco anos da cirurgia ortognática. Materiais: Foi utilizado o questionário RDC (reseach diagnostic Criteria), para avaliar e classificar o tipo de disfunção temporomandibular (DTM), assim como para observar o grau de dor crônica e depressão (eixo II), para a análise dos sinais e sintomas das DTMs foi utilizado o eixo I do RDC. Na análise do ciclo mastigatório foi utilizado o eletromiógráfo Myosystem I e software Myosystem BRI, versão 2.52 (DataHominis Tecnologia Ltda). Os músculos avaliados foram a parte anterior do temporal e a parte superficial do masseter de ambos os lados. O comportamento muscular foi avaliado em cinco períodos: pré-cirurgia 2-3 meses (T0); Pós-cirurgia 6 meses (T1), 12 meses (T2), 24 meses (T3) e 60 meses (T4). Resultados: A dor crônica e a depressão apresentaram melhoras após 5 anos do tratamento cirúrgico. Em relação às outras variáveis analisadas, observamos, que após 12, 24 e 60 meses da cirurgia, existe um aumento do tempo e do instante máximo da atividade do ciclo mastigatório. O RMS apresenta o sinal eletromiográfico mais estável após cinco anos do tratamento cirúrgico. Conclusão: A cirurgia ortognatica não é tratamento para as disfunções temporomandibulares. O ciclo mastigatório mostra melhoras no sinal eletromiográfico para pacientes prognatas que não apresentem nenhum tipo de disfunção temporo mandibular
Abstract: Objectives : To evaluate the signs and symptoms of temporomandibular disorders , chronic pain , depression , as well as evaluate the muscle function of the masseter and temporal in mastication . All these variables were analyzed before and five years after orthognathic surgery. Materials : RDC ( reseach diagnostic Criteria) questionnaire was used to assess and classify the type of temporomandibular disorders ( TMD ) , as well as to observe the degree of chronic pain and depression ( axis II ) , for the analysis of the signs and symptoms of the TMD axis I RDC was used . In the analysis of the masticatory cycle Myosystem I electromyography and software Myosystem BRI , version 2.52 ( DataHominis Technology Ltd. ) was used . The muscles tested were the anterior part of the temporal and superficial part of the masseter muscle on both sides . Muscle performance was evaluated in five periods : pre - surgery 2-3 months ( T0 ), 6 months post- surgery ( T1 ) , 12 months ( T2 ) , 24 months ( T3 ) and 60 months ( T4 ) . Results: Chronic pain and depression showed improvement after 5 years of surgical treatment . Regarding the other variables , we observe that 12 , 24 and 60 months after surgery , there is an increase in the time and the maximum moment of the masticatory cycle activity. The RMS has the most stable EMG signal after five years of surgical treatment Conclusion : orthognathic surgery is no treatment for temporomandibular disorders . The masticatory cycle shows improvement in electromyographic signal for prognathic patients without any type of temporomandibular disorders
Doutorado
Anatomia
Doutora em Biologia Buco-Dental

In the last 20 years, the production of farmed marine fish species has increased rapidly, mainly as a consequence of improved breeding methods and technologies. Skeletal malformations and others severe production bottlenecks such as high larval mortality or susceptibility to stress and disease, remain to be solved. Skeletal anomalies in farmed fish are a relevant issue affecting animal welfare and health and cause significant economic losses. The constant progress of genomic technologies promises to rapidly increase our knowledge on molecular mechanisms underlying productive traits of economic relevance in farmed species. The main objective of this PhD research was to investigate the molecular basis underlying the mandibular prognathism (MP), a skeletal malformation with a moderate incidence in intensively reared European seabass (Dicentrarchus labrax). To this aim, we applied a 2bRAD (type IIB endonucleases restriction-site associated DNA) pipeline, a widely used NGS (Next Generation Sequencing) technique for genome-wide genotyping. The reliability and reproducibility of the 2bRAD protocol has been preliminary tested on two organisms of veterinary relevance: the yellowfin tuna (Thunnus albacares), a fish with great biological and economic importance at global scale and the Listeria monocytogenes, a pathogenic bacterium that causes the infection listeriosis. In total, 6772 high-quality genome-wide SNPs (Single Nucleotide Polymorphism) were identified for the yellowfin tuna, in across population samples collected from the Atlantic, Indian and Pacific oceans and covering the entire distribution area. Discriminant Analysis of Principal Components (DAPC) endorsed the presence of genetically discrete yellowfin tuna populations among three oceanic pools. These results showed the efficiency of this genotyping technique in assessing genetic divergence in a marine fish with high dispersal potential. A total of 1279 unique SNPs loci were identified for Listeria monocytogenes. This research represents a first example of application of RAD-like technologies in microbial genetics. Results obtained for L. monocytogenes suggest that 2b-RAD is an effective tool for molecular epidemiology and public health, as well as proved in other areas such as phylogenetics, taxonomy, population genetics and biosafety. Once the 2bRAD technique was optimized as described above, a high-density genetic map of European seabass for QTL mapping of jaw deformity was constructed and a genome-wide association study (GWAS) was carried out on a total of 298 juveniles, 148 of which belonged to four full-sib families. A total of 7362 SNP markers was genotyped in more than 80% of the experimental population. Three significant QTLs were detected as significantly associated to MP by applying a half-sib regression analysis. The first QTL was located on linkage group LG18, the second one on LG20 and the third on LG22, each of them explaining 11-13% of the phenotypic variation. Two SNPs associated with MP were identified with GWAS analysis. Candidate markers were located on chromosome ChrX and chromosome Chr17, both in close proximity with the peaks of the two most significant QTLs. Notably, the SNP marker on Chr17 was positioned within the Sobp (Sine Oculis Binding Protein) gene coding region, which plays a pivotal role in craniofacial development. The analysis of differentially expressed genes in jaw-deformed animals highlighted the “nervous system development” as a crucial pathway in MP. In particular, Zic2, a key gene for craniofacial morphogenesis in model species, was significantly down-regulated in MP-affected animals. By integrating transcriptomic and GWA methods, the analysis developed during this PhD study, provides evidence for putative mechanisms underlying seabass jaw deformity.
Negli ultimi 20 anni, l’allevamento di specie ittiche marine ha avuto un rapido incremento, grazie principalmente al continuo sviluppo e miglioramento delle tecniche di produzione. Rimangono comunque ancora da risolvere diversi problemi nei processi di produzione, come ad esempio la presenza di malformazioni scheletriche, l'elevata mortalità delle larve o la suscettibilità allo stress e le malattie. Le anomalie scheletriche nei pesci d'allevamento incidono in maniera rilevante anche sul benessere e la salute degli animali, causando notevoli perdite economiche per gli allevatori. Tuttavia, il costante progresso delle tecniche di biologia molecolare e di genetica hanno permesso di ampliare notevolmente le nostre conoscenze sui meccanismi molecolari alla base di molti caratteri produttivi di rilevanza economica nelle specie allevate. L'obiettivo principale di questo studio è stato quello di indagare le basi genetiche del prognatismo mandibolare (MP), una malformazione scheletrica presente, con una moderata incidenza, negli allevamenti intensivi di branzino (Dicentrarchus labrax). A questo scopo, abbiamo applicato un particolare protocollo di analisi, il 2bRAD (type IIB endonucleases restriction-site associated DNA), ampiamente utilizzato per lo sviluppo di marcatori genetici affiancato a tecniche di sequenziamento massivo NGS (Next Generation Sequencies). L'affidabilità e la riproducibilità del protocollo 2bRAD è stata prima testata su due organismi di una certa rilevanza veterinaria: il tonno pinna gialla (Thunnus albacares), un pesce importante sia dal punto di vista biologico che economico, e la Listeria monocytogenes, un batterio patogeno che può causare la listeriosi. Nel tonno pinna gialla sono stati identificati 6772 marcatori SNP (Single Nucleotide Polymorphism) in popolazioni campionate su tutto l’areale di distribuzione negli Oceani Atlantico, Indiano e Pacifico. L’analisi discriminante delle componenti principali (DAPC) ha permesso di rilevare la presenza di popolazioni distinte di tonno pinna gialla nei tre Oceani. Questi risultati hanno dimostrato quindi l'efficacia del 2bRAD nello studio della divergenza genetica in un pesce marino ad alto potenziale di dispersione. Un totale di 1279 loci SNP sono stati identificati per Listeria monocytogenes, e questo lavoro rappresenta un primo esempio di applicazione di tecnologie “RAD-like” nel campo della genetica microbica. I risultati ottenuti suggeriscono che il 2bRAD potrebbe rivelarsi uno strumento estremamente utile per l'epidemiologia molecolare, così come in altri settori di studio come la filogenesi, la tassonomia, la genetica di popolazione e la salute pubblica. Nel lavoro sul prognatismo mandibolare del branzino, è stata inizialmente sviluppata una mappa di linkage ad alta densità utilizzata per la mappatura dei QTL potenzialmente associati alla patologia; successivamente è stato fatto uno studio di associazione (GWAS) scansionando l’intero genoma di branzino per trovare marcatori SNP putativamente associati al prognatismo. Sono stati utilizzati 298 esemplari giovanili in totale, di cui 148 appartenenti a quattro famiglie full-sib. Un totale di 7362 marcatori SNP sono stati genotipizzati in più del 80% della popolazione sperimentale. Tre QTL significativi sono stati rilevati per il prognatismo utilizzando un’analisi di regressione half-sib. Il primo è stato mappato sul gruppo di linkage LG18, il secondo su LG20 e il terzo sul gruppo di linkage LG22; ogni QTL spiegava circa l’11-13% della variazione fenotipica. Due SNP associati al MP sono stati identificati con l'analisi GWAS. I marcatori candidati sono stati individuati sul cromosoma ChrX e sul cromosoma Chr17, in stretta vicinanza ai due QTL più significativi. In particolare, il marcatore SNP su Chr17 è posizionato all'interno della regione codificante del gene Sobp, che svolge un ruolo fondamentale nello sviluppo craniofacciale. Inoltre, l’analisi dei geni differenzialmente espressi nei branzini prognati ha evidenziato lo “sviluppo del sistema nervoso" come un pathway cruciale nella formazione del MP. In particolare, Zic2, un gene chiave per la morfogenesi craniofacciale nelle specie modello, risulta significativamente sotto-espresso negli animali affetti da prognatismo. Il lavoro svolto in questo studio quindi, integrando la trascrittomica e l’analisi di marcatori molecolari sviluppati sull’intero genoma, fornisce validi risultati per comprendere meglio i meccanismi molecolari che sono alla base dell’insorgenza del prognatismo mandibolare nei branzini di allevamento.

We present a 31-year-old male without any comorbidities who presented to the emergency room (ER) with a 2-week history of polyuria, polydipsia, constipation, and fatigue. He also reported a weight loss of 40 lb over the last 3 months. During the interview, he mentioned having oily skin and acne all of his life. He denied palpitations, hyperhidrosis, or difficulty with sexual activity. Physical exam was striking for frontal bossing, prognathism, hypertrichosis, and large hands and feet, suggesting acromegaly. No acanthosis nigricans or acrochordons was noted. Initial lab work revealed the following: blood glucose 241 mg/dL, serum bicarbonate 12 mEq/L, anion gap 31, β-hydroxybutyrate >8 mmol/L, ketonuria on urinalysis, and HbA1c of 13.1%. Islet cell anti-GAD antibodies were negative.

Klinefelter syndrome (KS) was first identified by Dr. Harry Klinefelter in 1942 (Klinefelter, Reifenstein, and Albright 1942) in a report of nine tall men with hypogonadism, sparse body hair, gynecomastia, and infertility. The associated chromosome disorder 47XXY was identified several years later (Jacobs and Strong 1959). The full phenotype consists of hypogonadism, low testosterone levels, infertility, gynecomastia, sparse body hair, eunuchoid body habitus, long legs and arm span, and above-average height. However, except for hypogonadism (small testes), which is present in nearly all individuals with XXY, the physical phenotype may be quite variable. In live-born males, KS has an incidence of 1:500 to 1:1,000 (Bojesen, Juul, and Gravholt 2003; Hamerton, Canning, Ray, and Smith 1975; Ratcliffe, Bancroft, Axworthy, and McLaren 1982; Rovet, Netley, Keenan, Bailey, and Stewart 1996), with a further incidence of 1:300 in spontaneous abortions (Hassold and Jacobs 1984). Klinefelter syndrome is the most common of the sex chromosome abnormalities and the second most common chromosomal disorder after Down syndrome. The possibility that incidence is increasing has also been raised (Morris, Alberman, Scott, and Jacobs 2008). Despite this, possibly as a consequence of poor identification, the syndrome has been studied less extensively than, for example, Turner syndrome (45XO) and many other developmental disorders. Boys with KS are generally tall and long-limbed but with increasing height in the population, these characteristics alone are not necessarily distinguishing. Individuals with KS are generally not immediately identifiable, and many cases of KS remain unidentified throughout life. Up to two-thirds of cases may never be identified clinically (Lanfranco, Kamischke, Zitzmann, and Nieschlag 2004). There is no clearly identifiable facial appearance, although mandibular prognathism (a prominent lower jaw and extended chin) is reported on group analysis using radiographic cephalometry (Brown, Alvesalo, and Townsend 1993). Increased genetic screening now means that 10% of cases in the United Kingdom are diagnosed prenatally on the basis of karyotype, with a further 25% of cases diagnosed during childhood (Abramsky and Chapple 1997). However, this means that 65% of cases reach puberty undiagnosed. In Belgium, fewer than 10% of expected cases are diagnosed before puberty (Bojesen et al. 2003).

Among the largest Plio-Pleistocene hominin skulls found to date, A.L. 444-2 is bigger, though not by much, than an average female gorilla’s skull. At first glance, A.L. 444-2 assumes a somewhat simian appearance, the outcome of a relatively small braincase combined with an inclined frontal squama and prognathic jaws. However, this apelike appearance is offset by several distinctive hominin features: a very tall face that is much less prognathic than would be expected from the skull’s general simian-like appearance; a deep, vertical mandibulosymphyseal profile; delicate supraorbital elements; and the absence of a supratoral sulcus intervening between the frontal squama and the forward-jutting supraorbital element. Nevertheless, the characteristics that account for the skull’s hominin appearance demonstrate a certain uniqueness, which is manifested in the disproportion between the considerable total height of the face and the great size of its constituent elements (primarily the zygomatic and maxillary bones), on the one hand, and the delicateness of the supraorbital element and the almost negligible degree of its anterior projection, on the other. An apparent unevenness emerges along the vertical axis of the face between its upper portion—the orbits, including the elements above and between them—and its lower portion, that is, the elements below the level of orbitale down to gnathion. Undoubtedly, part of this appearance stems from the heavy, somewhat vertical, deep, and anteriorly bulbous symphyseal region of the mandible. The corresponding region in the African apes, in contrast, is transversely pinched, as its two sides converge downward toward the midline. Furthermore, the region slopes inferoposteriorly; in anterior view, it is tucked under the alveolar element and hence is less exposed than in A.L. 444-2. The preservation of the mandible of A.L. 444-2 and its occlusion with the upper dental arcade afford a unique opportunity to evaluate some of the characteristics of an entire A. afarensis skull. Two standard measurements can be recorded: the distance between gnathion and the estimated site of nasion—a measure of the total height of the face—which is 150 mm, and the distance between gnathion and basion, estimated at 157 mm.

Context: The fragile X syndrome is characterized by intellectual deficit and some physical characteristics, which become more evident during growth, especially craniofacial and macroorchidism. Case report: A 22 year-old male patient with diabetes mellitus type 1 (DM1) diagnosed at 7 years of age is following-up with ophthalmology due to low visual acuity. On physical exam, he did not maintain eye contact and performed repetitive movements. In addition, he had an elongated face and upward slanting eyelid clefts, a high palate and prognathism, large and prominent ears. In the family history, 3 of his siblings, one male and two female, also had intellectual deficit, and two of them had concomitant DM1. One brother had only DM1 and the other none of the diseases. The parents had consanguinity (they were cousins in the 3rd degree). The patient’s karyotype, using the chromosomal breaks technique after cultivation in medium-low folic acid, showed the presence of fragility on the X chromosome in the region q27.3 [46, XY, fra (x) (q27.3)], compatible with the diagnosis of fragile X syndrome. This result was confirmed using the PCR-multiplex technique. Conclusions: In this family, the concomitant presence in several individuals of the fragile X syndrome and DM1 stands out. However, although both conditions are not related, they are frequent, which could justify their simultaneous occurrence.