Major gene and multifactorial inheritance of mandibular prognathism

Mandibular prognathism typically shows familial aggregation. Various genetic models have been described and it is assumed to be a multifactorial and polygenic trait, with a threshold for expression. Our goal was to examine specific genetic models of the familial transmission of this trait. The study sample comprised of 2,562 individuals from 55 families. Complete family histories for each proband were ascertained and the affection status of relatives were confirmed by lateral cephalograms, photographs, and dental models. Pedigrees were drawn using PELICAN and complex segregation analysis was performed using POINTER. Parts of some pedigrees were excluded to create one founder pedigrees, so the total N was 2,050. Analysis showed more affected females than males (P = 0.030). The majority of the pedigrees suggest autosomal dominant inheritance. Incomplete penetrance was demonstrated by the ratio of affected/unaffected parents and siblings. The heritability of mandibular prognathism was estimated to be 0.316. We conclude that there is a major gene that influences the expression of mandibular prognathism with clear signs of Mendelian inheritance and a multifactorial component. (C) 2007 Wiley-Liss, Inc.

Analysis of 3D Soft Tissue Changes After 1- and 2-Jaw Orthognathic Surgery in Mandibular Prognathism Patients

Purpose Orthognathic surgery has the objective of altering facial balance to achieve esthetic results in patients who have severe disharmony of the jaws. The purpose was to quantify the soft tissue changes after orthognathic surgery, as well as to assess the differences in 3D soft tissue changes in the middle and lower third of the face between the 1- and 2-jaw surgery groups, in mandibular prognathism patients. Materials and Methods We assessed soft tissue changes of patients who have been diagnosed with mandibular prognathism and received either isolated mandibular surgery or bimaxillary surgery. The quantitative surface displacement was assessed by superimposing preoperative and postoperative volumetric images. An observer measured a surface-distance value that is shown as a contour line. Differences between the groups were determined by the Mann-Whitney U test. The Spearman correlation coefficient was used to evaluate a potential correlation between patients' surgical and cephalometric variables and soft tissue changes after orthognathic surgery in each group. Results There were significant differences in the middle third of the face between the 1- and 2-jaw surgery groups. Soft tissues in the lower third of the face changed in both surgery groups, but not significantly. The correlation patterns were more evident in the lower third of the face. Conclusion The overall soft tissue changes of the midfacial area were more evident in the 2-jaw surgery group. In 2-jaw surgery, significant changes would be expected in the midfacial area, but caution should be exercised in patients who have a wide alar base.

A chromosomal region on ECA13 is associated with maxillary prognathism in horses.

Hereditary variations in head morphology and head malformations are known in many species. The most common variation encountered in horses is maxillary prognathism. Prognathism and brachygnathism are syndromes of the upper and lower jaw, respectively. The resulting malocclusion can negatively affect teeth wear, and is considered a non-desirable trait in breeding programs. We performed a case-control analysis for maxillary prognathism in horses using 96 cases and 763 controls. All horses had been previously genotyped with a commercially available 50 k SNP array. We analyzed the data with a mixed-model considering the genomic relationships in order to account for population stratification. Two SNPs within a region on the distal end of chromosome ECA 13 reached the Bonferroni corrected genome-wide significance level. There is no known prognathism candidate gene located within this region. Therefore, our findings in the horse offer the possibility of identifying a novel gene involved in the complex genetics of prognathism that might also be relevant for humans and other livestock species.

Masticatory muscle function three years after surgical correction of class III dentofacial deformity

Individuals with dentofacial deformities have masticatory muscle changes. The objective of the present study was to determine the effect of interdisciplinary treatment in patients with dentofacial deformities regarding electromyographic activity (EMG) of masticatory muscles three years after surgical correction. Thirteen patients with class III dentofacial deformities were studied, considered as group PI (before surgery) and group P3 (3 years to 3 years and 8 months after surgery). Fifteen individuals with no changes in facial morphology or dental occlusion were studied as controls. The participants underwent EMG examination of the temporal and masseter muscles during mastication and biting. Evaluation of the amplitude interval of EMG activity revealed a difference between P1 and P3 and no difference between P3 and the control group. In contrast, evaluation of root mean square revealed that, in general, P3 values were higher only when compared with PI and differed from the control group. There was an improvement in the EMG activity of the masticatory muscles, mainly observed in the masseter muscle, with values close to those of the control group in one of the analyses.

Masseter muscle thickness three years after surgical correction of class III dentofacial deformity

Objective: To analyse the effect of integrated orthodontic treatment, orthognathic surgery and orofacial myofunctional therapy on masseter muscle thickness in patients with class III dentofacial deformity three years after orthognathic surgery. Design: A longitudinal study was conducted on 13 patients with class III dentofacial deformities, denoted here as group P1 (before surgery) and group P3 (same patients 3 years to 3 years and 8 months after surgery). Fifteen individuals with no changes in facial morphology or dental occlusion were assigned to the control group (CG). Masseter muscle ultrasonography was performed in the resting and biting situations in the three groups. Data were analysed statistically by a mixed-effects linear model considering a level of significance of P < 0.05. Results: Significantly higher values (P < 0.01) of masseter muscle thickness (cm) were detected in group P3 (right rest: 0.82 +/- 0.16, left rest: 0.87 +/- 0.21, right bite: 1 +/- 0.22, left bite: 1.04 +/- 0.28) compared to group P1 (right rest: 0.63 +/- 0.19, left rest: 0.64 +/- 0.15, right bite: 0.87 +/- 0.16, left bite: 0.88 +/- 0.14). Between P3 and CG (right rest: 1.02 +/- 0.19, left rest: 1 +/- 0.19, right bite: 1.18 +/- 0.22, left bite: 1.16 +/- 0.22) there was a significant difference on the right side of the muscle (P < 0.05) in both situations and on the left side at rest. Conclusion: The proposed treatment resulted in improved masseter muscle thickness in patients with class III dentofacial deformity. (C) 2011 Elsevier Ltd. All rights reserved.

Bite force, electromyography, and mandible mobility during the 6-month period after surgical treatment for isolated fractures of the zygomatico-orbital complex

Objective. The aim of this study was to identify the behavior of masticatory muscles after fractures of the zygomatico-orbital complex (ZOC) and subsequent surgical treatment, by using analyses of bite force, electromyography (EMG), and mandible mobility during a 6-month period after surgery. Study design. Five patients with fractured ZOCs treated surgically by using an intraoral approach and fixation exclusively in the region of the zygomaticomaxillary buttress were evaluated. The control group included 12 other patients. During postoperative follow-up, bite force, mandible mobility, and EMG analysis of the masticatory muscles were evaluated. Results. There was an increase in bite force with time, but a decline in EMG activity during the same period. In the mandible mobility analysis, only maximum mouth-opening values increased significantly after the surgical treatment. Conclusions. The masticatory musculature, according to bite force and EMG, returned to its normal condition by the second month after surgery, and maximum mouth opening was observed after the first month. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011;111:e1-e7)

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.

TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. Using exome sequencing, we identified two sisters homozygote for the novel c.17_20delAGAG, p.R7TfsX21 TBC1D7 truncating mutation. In addition to the already described macrocephaly and mild ID, they share osteoarticular defects, patella dislocation, behavioral abnormalities, psychosis, learning difficulties, celiac disease, prognathism, myopia, and astigmatism. Consistent with a loss-of-function of TBC1D7, the patient's cell lines show an increase in the phosphorylation of 4EBP1, a direct downstream target of mTORC1 and a delay in the initiation of the autophagy process. This second family allows enlarging the phenotypic spectrum associated with TBC1D7 mutations and defining a TBC1D7 syndrome. Our work reinforces the involvement of TBC1D7 in the regulation of mTORC1 pathways and suggests an altered control of autophagy as possible cause of this disease.

Avaliação da via aérea superior em pacientes classe III submetidos à cirurgia ortognática: revisão de literatura

Introduction: The configuration and dimensions of the upper airway are determined by anatomical structures such as soft tissues, muscles and craniofacial skeleton, composing or surrounding the pharynx. Anatomical abnormalities of the soft tissues and / or craniofacial skeleton may become more narrow upper airway. The orthognathic surgery, which is used in the correction of dentoskeletal deformities, also causes changes in the upper airway. Objective: In view of the facts presented, this article aims to review the literature on the changes of the upper airway in patients’ class III undergoing orthognathic surgery. Methodology: International Literature on Health Sciences (Pubmed ) and Port Journals CAPES original and review published between 1990 and 2010, in two bibliographic databases articles were selected. Results: thirty-nine (39) articles were selected for writing this review. Conclusion: The upper airway deformity and dental- skeletal class III should be carefully evaluated prior to orthognathic surgery and whenever surgical planning permit should prefer the maxillary advances to mandibular setbacks

Estudo da estabilidade da cirurgia do tipo sagital da mandíbula com vista a correção de deformidades faciais

This research evaluated the surgical stabilily in patients with mandibular prognathism and retrognathism in which was used sagital split technic to correct those detormities. Twelve patients were selected from the clinic of only one experienced surgeon. Six patients presenter a Class III 6 a Class II molar relationship. A comparative cefalometric analysis using linear and angular measurements was performed of pre-surgery, imediate pós-surgery and 1 year follow-up. The following conclusions were obtained. 1 The Dal Pont sagital split technic modified by Epker to correct mandibular prognathisn and retroghnatism is a stable technic and must be indicated to correct those deformities. 2 Small relapses are easily corrected by the post-surgical orthodontic treatment. 3 A small over correction is advised in cases of large mandibular advancements or set bascks. 4 In those cases which a large amount of mandibular retrusion on advancement need to be performed, a combination of maxillary and mandibular surgery should be used. Rigid fixation technic is also indicated in those cases

Masticatory efficiency in class II and class III dentofacial deformities

Masticatory efficiency may be impaired in individuals with dentofacial deformities. The objective of the present study was to determine the condition of masticatory efficiency in individuals with dentofacial deformities. 30 patients with class II (DG-II) and 35 patients with class III (DG-III) dentofacial deformity participated in the study, all had an indication for orthognathic surgery. 30 volunteers (CG) with no alterations of facial morphology or dental occlusion and with no signs or symptoms of temporomandibular joint dysfunction also participated. Masticatory efficiency was analysed using a bead system (colorimetric method). Each individual chewed 4 beads, one at a time, over 20 s measured with a chronometer. The groups were compared in term's of masticatory efficiency using analysis of variance (ANOVA), with the level of significance set at P < 0.05. Masticatory efficiency was significantly greater in CG (P < 0.05) than in DG-II and DG-III in all chewing tasks tested, with no significant difference between DG-II and DG-III (P > 0.05). It was observed that the presence of class II and class III dentofacial deformity affected masticatory efficiency compared to CG, although there was no difference between DG-II and DG-III.

Comparative analysis of the anterior and posterior length and deflection angle of the cranial base, in individuals with facial pattern I, II and III

Objective: This study evaluated the variations in the anterior cranial base (S-N), posterior cranial base (S-Ba) and deflection of the cranial base (SNBa) among three different facial patterns (Pattern I, II and III). Method: A sample of 60 lateral cephalometric radiographs of Brazilian Caucasian patients, both genders, between 8 and 17 years of age was selected. The sample was divided into 3 groups (Pattern I, II and III) of 20 individuals each. The inclusion criteria for each group were the ANB angle, Wits appraisal and the facial profile angle (G’.Sn.Pg’). To compare the mean values obtained from (SNBa, S-N, S-Ba) each group measures, the ANOVA test and Scheffé’s Post-Hoc test were applied. Results and Conclusions: There was no statistically significant difference for the deflection angle of the cranial base among the different facial patterns (Patterns I, II and III). There was no significant difference for the measures of the anterior and posterior cranial base between the facial Patterns I and II. The mean values for S-Ba were lower in facial Pattern III with statistically significant difference. The mean values of S-N in the facial Pattern III were also reduced, but without showing statistically significant difference. This trend of lower values in the cranial base measurements would explain the maxillary deficiency and/or mandibular prognathism features that characterize the facial Pattern III.

Mesenteric lymphangitis and sepsis due to RTX toxin-producing Actinobacillus spp in 2 foals with hypothyroidism-dysmaturity syndrome

Actinobacillus suis-like organisms (ASLOs) have been isolated from the genital, respiratory, and digestive tracts of healthy adult horses, horses with respiratory disease, and septic foals. Two foals with congenital hypothyroidism-dysmaturity syndrome from separate farms developed ASLO infection. At necropsy, both had contracted carpal flexor tendons, thyroid hyperplasia, and thrombotic and necrotizing mesenteric lymphangitis and lymphadenitis; one foal also had mandibular prognathism. Numerous ASLOs were isolated from tissues from both foals, including intestine. Biochemical testing and mass spectrometric analysis of the two Actinobacillus isolates did not allow unequivocal identification. Comparative genetic analysis was done on these and similar isolates, including phylogeny based on 16S rRNA, rpoB and recN genes, as well as RTX (repeat in toxin) toxin typing of apxIA-apxIVA and aqxA genes. One isolate was identified as Actinobacillus suis sensu stricto, based on the presence of apxIA and apxIIA but not aqxA, whereas the other isolate had aqxA but neither apxIA nor apxIIA, consistent with A equuli ssp haemolyticus. Based on genotypic analysis of the isolates included for comparison, 3 of 3 equine ASLOs and 2 of 5 A equuli isolates were reclassified as A equuli subsp haemolyticus, emphasizing the importance of toxin genotyping in accurate classification of actinobacilli.

Heritabilities of health traits in Swiss Warmblood horses

REASONS FOR PERFORMING THE STUDY: There is a lack of evidence regarding genetic parameters of health traits in Swiss Warmblood horses. OBJECTIVES: To estimate heritabilities of equine sarcoid disease, horn quality of the hooves, prognathism and increased filling of talocrural joints as a possible indicator for osteochondrosis in Swiss Warmblood horses examined at the field tests for 3-year-olds between 2005 and 2013. STUDY DESIGN: Retrospective analysis of breed society database. METHODS: Swiss Warmblood horses were examined clinically by 13 veterinarians at field tests in Switzerland between 2005 and 2013. The presence of sarcoids, horn quality of the hooves, incisor occlusion and increased joint filling were assessed and recorded. Records of 3715 horses were integrated in a pedigree comprising 217,282 horses. Variance components and heritabilities were estimated on the liability scale using MTGSAM. RESULTS: The prevalences of the examined traits were rather low, ranging from 2.4 to 13.0%. Heritabilities estimated were 0.21 ± 0.07 for the occurrence of sarcoids, 0.04 ± 0.02 for hooves with markedly brittle and friable horn quality, 0.03 ± 0.01 for hooves with marked growth ring formation, 0.06 ± 0.03 for prognathism and 0.08 ± 0.04 for increased filling of the talocrural joint (an indicator of possible osteochondrosis). The influence of the examiner on the variance of these observations was considerable. CONCLUSIONS: With the exception of equine sarcoid disease, estimates for the heritabilities for the traits examined here were low. A standardised examination protocol may reduce the variance due to the examiner. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Estudo cefalométrico-radiográfico das alterações dento-esqueléticas em pacientes com má oclusão de Classe III submetidos a tratamento ortodôntico-cirúrgico

Este estudo teve como finalidade avaliar cefalometricamente, por meio de telerradiografias em norma lateral, as alterações dento-esqueléticas em pacientes Classe III submetidos a tratamento ortodôntico-cirúrgico. A amostra experimental constituiu-se de 16 pacientes Brasileiros, dos sexos masculino e feminino, na faixa etária pré-cirúrgica média de 21 anos e 11 meses, apresentando má oclusão de Classe III com indicação de tratamento cirúrgico representado por recuo mandibular isolado. Para cada paciente foram realizadas telerradiografias nas fases inicial, pré-cirúrgica e pós-cirúrgica, sendo comparadas a um grupo controle, constituído de telerradiografias de indivíduos com oclusão normal. Segundo a metodologia empregada e pela análise dos resultados obtidos, avaliados estatisticamente, constatou-se que os pacientes Classe III com indicação de recuo mandibular foram caracterizados por um mau relacionamento entre as bases esqueléticas representado por um bom posicionamento da maxila associado a prognatismo mandibular, aumento da altura facial ântero-inferior, incisivos inferiores e sínfise mandibular lingualizados e incisivos superiores vestibularizados. A partir do preparo ortodôntico pré-cirúrgico, observou-se uma rotação mandibular no sentido horário, descompensação dentária representada por lingualização e extrusão dos incisivos superiores e vestibularização dos incisivos inferiores, acompanhada por uma remodelação da cortical óssea vestibular da sínfise mandibular. Esta descompensação ortodôntica definiu características dento-alveolares semelhantes às dos indivíduos com oclusão normal. O comportamento das variáveis dento-esqueléticas após a cirurgia ortognática, a partir do deslocamento póstero-superior das estruturas dento-esqueléticas da mandíbula, proporcionou um equilíbrio destas estruturas, em relação à oclusão normal.

Estudo cefalométrico-radiográfico das alterações dento-esqueléticas em pacientes com má oclusão de Classe III submetidos a tratamento ortodôntico-cirúrgico

Este estudo teve como finalidade avaliar cefalometricamente, por meio de telerradiografias em norma lateral, as alterações dento-esqueléticas em pacientes Classe III submetidos a tratamento ortodôntico-cirúrgico. A amostra experimental constituiu-se de 16 pacientes Brasileiros, dos sexos masculino e feminino, na faixa etária pré-cirúrgica média de 21 anos e 11 meses, apresentando má oclusão de Classe III com indicação de tratamento cirúrgico representado por recuo mandibular isolado. Para cada paciente foram realizadas telerradiografias nas fases inicial, pré-cirúrgica e pós-cirúrgica, sendo comparadas a um grupo controle, constituído de telerradiografias de indivíduos com oclusão normal. Segundo a metodologia empregada e pela análise dos resultados obtidos, avaliados estatisticamente, constatou-se que os pacientes Classe III com indicação de recuo mandibular foram caracterizados por um mau relacionamento entre as bases esqueléticas representado por um bom posicionamento da maxila associado a prognatismo mandibular, aumento da altura facial ântero-inferior, incisivos inferiores e sínfise mandibular lingualizados e incisivos superiores vestibularizados. A partir do preparo ortodôntico pré-cirúrgico, observou-se uma rotação mandibular no sentido horário, descompensação dentária representada por lingualização e extrusão dos incisivos superiores e vestibularização dos incisivos inferiores, acompanhada por uma remodelação da cortical óssea vestibular da sínfise mandibular. Esta descompensação ortodôntica definiu características dento-alveolares semelhantes às dos indivíduos com oclusão normal. O comportamento das variáveis dento-esqueléticas após a cirurgia ortognática, a partir do deslocamento póstero-superior das estruturas dento-esqueléticas da mandíbula, proporcionou um equilíbrio destas estruturas, em relação à oclusão normal.