Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears (`question mark ears`), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia. Penetrance seems to be complete, but there is high inter-and intra-familial phenotypic variation, with no evidence of genetic heterogeneity. We herein describe a new multigeneration family with 11 affected individuals (F1), in whom we confirm intra-familial clinical variability. Facial asymmetry, a clinical feature not highlighted in other ACS reports, was highly prevalent among the patients reported here. The gene responsible for ACS is still unknown and its identification will certainly contribute to the understanding of human craniofacial development. No chromosomal rearrangements have been associated with ACS, thus mapping and positional cloning is the best approach to identify this disease gene. To map the ACS gene, we conducted linkage analysis in two large ACS families, F1 and F2 (F2; reported elsewhere). Through segregation analysis, we first excluded three known loci associated with disorders of first and second pharyngeal arches (Treacher Collins syndrome, oculo-auriculo-vertebral spectrum, and Townes-Brocks syndrome). Next, we performed a wide genome search and we observed evidence of linkage to 1p21.1-q23.3 in F2 (LOD max 3.01 at theta = 0). Interestingly, this locus was not linked to the phenotype segregating in F1. Therefore, our results led to the mapping of a first locus of ACS (ACS1) and also showed evidence for genetic heterogeneity, suggesting that there are at least two loci responsible for this phenotype.

Qualidade de vida, eficiência mastigatória e presença de disfunção temporomandibular em usuários de prótese parcial removível com arco dental curto inferior

Even nowadays there is in Brasil a large number of edentulous and a precarious financial condition of most of the population. In addition, World Health Organization aims for oral health, which consists on the maintenance of a natural dentition, functional and aesthetic composed of at least 20 teeth, without need of prosthetic intervention throughout life. From this and considering the lack of researches about the permanence of edentulous spaces in the oral cavity, and also avoiding overtreatment, this research has been proposed. Thus, the aim was to evaluate the effect of different lengths of the shortened lower dental arch in the presence or absence of a removable partial denture (RPD) on masticatory function, quality of life and occurrence of temporomandibular dysfunction. To achieve this goal, we compared the masticatory efficiency (colorimetric test), the oral comfort through the analysis of the impact of oral health in quality of life (OHIP-14), the presence of temporomandibular dysfunction (RDC/TMD) and the general quality of life (WHOQOL) of patients with shortened dental arches (SDA) (n=60), which is an arch with a reduction of teeth starting posteriorly, and patients with complete dental arch (Complete DA) (n = 34). The group of patients whit SDA was divided among PPR wears (PPD + SDA) (n = 17) and non-wears (n = 43). The population of this study consisted on patients who received or looked for treatment at the clinics of the Department of Dentistry of UFRN, from clinical analysis and records. The sample was chosen by convenience. For statistical analysis, it was a database in SPSS 17.0, followed by descriptive analysis with frequencies, absolute values, tests of central tendency and variability. The statistical tests used were chi-squared and analysis of variance as well as Tukey s post test, when applicable, all with a 95% confidence level. The results shown a prevalence of TMD of 47,1% among patients using PRP and 69,8% among those who didn t, but this result wasn t statistically significant. The mean of the results of masticatory efficiency, WHOQOL and OHIP didn t show association to the presence or absence of PPR and to the lower number of occlusal units of the patients (0, 1, 2 or more occlusal). The association only occurred among the different groups of SDA and the patients with complete dental arch. Taking into account the results, it could be observed that studied patients with low posterior support using lower PRP didn t have better masticatory efficiency, general quality of life, less impacts of their oral conditions in quality of life or not even less temporomandibular dysfunction or better masticatory efficiency when compared to those who didn t use the prosthesis

Prevalência da disfunção temporomandibular em estudantes de odontologia por meio de diferentes índices

The epidemiology of temporomandibular disorders varies widely in the literature. The aim of this study was to determine the prevalence of TMD in dental students of the Federal University of Rio Grande do Norte assessed by different indexes. The sample consisted of 101 individuals selected by a randomized process, whose general outline was systematic sampling. For evaluation of the signs and symptoms of TMD, an anamnestic index, Fonseca s protocol, and two clinical indexes, the RDC/TMD (Research Diagnostic Criteria for Temporomandibular Disorders), or standard index, and the Helkimo s Clinical Dysfunction Index were applied. Data were analyzed using the chi-square test and kappa, besides verifying the sensitivity and specificity (5% significance). The diagnosis of TMD by different indexes showed a variation in the prevalence between 72.3% (Helkimo s Clinical index), 64.4% (Fonseca s anamnestic index) and 35.6% (RDC/TMD). There was no statistical difference between the sexes for the RDC/TMD, although this difference was found for Fonseca s and Helkimo s indexes (p<0.05). The most frequent type of TMD were joint disorders (Groups II and III), and the subtypes disc displacement with reduction (17.8%) and arthralgia (15.8%). Most individuals showed a mild TMD (45.5%) for both indexes, Fonseca and Helkimo. When comparing the types of diagnoses, RDC/TMD with Fonseca and Helkimo, low agreement was found (k=0.17 and k= 0.35, respectively). A moderate correlation between the severity of TMD was obtained (kw= 0.53) for Fonseca s protocol and Helkimo s index. High sensitivity and low specificity were seen for both diagnoses compared to standard, resulting in excessive false positives. Within the limitations of the study, it was concluded that the prevalence of TMD can vary widely, depending on the index used for its diagnosis

Avaliação clínica de sinais e sintomas da disfunção temporomandibular em crianças

OBJETIVO: avaliar a freqüência dos sinais e sintomas, dos hábitos parafuncionais e das características oclusais de 80 crianças, pacientes da clínica de Ortodontia Preventiva da Faculdade de Odontologia de Araçatuba - UNESP. METODOLOGIA: o exame clínico constituiu-se de avaliação das características oclusais do paciente e observação da presença de hábitos parafuncionais. As crianças foram submetidas a uma entrevista, supervisionadas pelos pais, cujas perguntas relacionavam-se com os sinais e sintomas da disfunção. RESULTADOS E CONCLUSÕES: concluiu-se que os sinais e sintomas mais freqüentes foram o hábito de ranger os dentes, dores de cabeça e ruídos na ATM. A onicofagia e o bruxismo foram os hábitos parafuncionais mais prevalentes. A freqüência de sinais e sintomas da disfunção temporomandibular pode ser verificada em crianças por meio da entrevista e exame clínico minucioso.

Low intensity laser therapy in the treatment of temporomandibular disorders: A double-blind study

This study aimed to evaluate the effectiveness of low intensity laser therapy (LILT) in 30 patients presenting temporomandibular joint (TMJ) pain and mandibular dysfunction in a random and double-blind research design. The sample, divided into experimental group (1) and placebo group (2), was submitted to the treatment with infrared laser (780 nm, 30 mW, 10 s, 6.3 J/cm2) at three TMJ points. The treatment was evaluated throughout six sessions and 15, 30 and 60 days after the end of the therapy, through visual analogue scale (VAS), range of mandibular movements and TMJ pressure pain threshold. The results showed a reduction in VAS (p < 0.001) and through the ANOVA with repeated measures it was observed that the groups did not present statistically significant differences (P = 0.2060), as the averages of the evaluation times (P = 0.3955) and the interaction groups evaluation times (P = 0.3024), considering the MVO. The same occurred for RLE (P = 0.2988, P = 0.1762 and P = 0.7970), LLE (P = 0.3265, P = 0.4143 and P = 0.0696), PPTD (P = 0.1558, P = 0.4695 and P = 0.0737) and PPTE (P = 0.2376, P = 0.3203 and P = 0.0624). For PE, there were not statistically significant differences for groups (P = 0.7017) and the interaction groups evaluation times (P = 0.6678), even so in both groups the PE varied with time (P = 0.0069). © 2005 Blackwell Publishing Ltd.

Hallazgos clínico-radiológicos de la articulación temporomandibular en pacientes con artritis reumatoide

Aim of present paper is to describe and to assess the Clinicoradiological findings of the temporomandibular joint (TMJ) in a group of patients diagnosed with rheumatoid arthritis (RA). Sample included 61 patients with a mean age of 54 years and 5 months. All of them were interrogated and clinically examined and then underwent to a radiographic examination of both TMJs, using the transcranial projection technique, with the closed mouth and in maximal opening. Study includes the TMJ syndrome founded such as pain, tumefaction, luxation, clicking, and a limited oral opening. The study of radiographic features showed the presence of changes in condyle surface and temporal fossa, in condylar motility, and articulation space. We conclude that in patients presenting with rheumatoid arthritis is frequent the presence of clinicoradiological findings in the TMJ, and that patient's age and gender and the activity level and the RA course time, are factors influencing in TMJs general status.

Fisioterapia no tratamento da dor orofacial de pacientes com disfunção temporomandibular crônica

Recent studies have shown consistent results using the physical therapy in cases of pain and limitation of movement from temporomandibular dysfunction. Thus, our objective was to assess the effect of ten sessions of physical therapy and laser therapy in treatment of muscular pain and arthralgias in a woman with temporomandibular dysfunction. The painful symptoms relief achieved by session was over 20 %, up to zero at the end of treatment. Results demonstrated that the treatment protocol used was effective to reduce the temporomandibular joint and the masseter muscle tension and a decreased of drugs by patient. However, more studies are needed to define with more accuracy the effect of other physiotherapy programs and its interaction with other treatment modalities.

Análise da intensidade e frequências dos ruídos articulares da articulação temporomandibular

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Auriculo-Condylar Syndrome. Confronting a Diagnostic Challenge

Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called "question mark" ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible. In this report we describe a new simplex case and a previously unreported family with affected individuals in three generations documenting clinical variability. Linkage study for markers located in candidate region for ACS1 (1p21.1-q23.3) was excluded in our familial case, reinforcing the hypothesis of genetic heterogeneity for this condition. A review of the literature focusing diagnostic criteria and features of ACS was performed. (C) 2011 Wiley Periodicals, Inc.

Anatomical, Clinical and Radiographic Characteristics of Styloid Syndrome (Eagle Syndrome): a Case Report

Styloid syndrome is characterized by an elongated styloid process or calcification of the stylomandibular and stylohyoid ligament. This study describes a case of a 65-year-old woman who presented to the Stomatology Clinic, University of Marilia with temporomandibular joint pain, ear ringing and a reduced ability to open the mouth. Panoramic and posteroanterior digital radiographs showed bilateral elongation of the styloid processes, especially of the right side, whose length extended beyond the mandible angle. The diagnosis was confirmed with the association of clinical data and image examinations. The treatment options for styloid Syndrome include clinical follow-up, surgical removal of the styloid process or fracture of the elongated process. The case was managed by providing prosthetic rehabilitation and clinical follow-up, observing the level of discomfort and the benefit that could be achieved by the therapy, and avoiding surgical intervention.

Atividade muscular da mastigação na anquilose temporomandibular

Purpose: due to the presence of major masticatory dysfunction in patients with temporomandibular joint (TMJ) ankylosis, this study analyzed mouth opening and EMG activity of masticatory muscles in order to detect changes in these parameters after surgical release of mandible ankylosis. Method: in 7 patients with temporomandibular ankylosis, between 7 and 30 years (median = 9 years), the distance was measured as interincisal maximum active (DIMA) and we recorded the electromyographic activity (EMG) of masseter and temporal muscles during voluntary isometric contraction (VIC) and chewing, comparing the data before and after surgery using the Wilcoxon test. Results: higher values were observed for DIMA after surgery (p=0.0277), the asymmetry index showed no difference between the two evaluated periods for both studied muscles, the values of the EMG during VIC decreased after surgery for the right (p=0.0179) and left (p=0.0179) masseter but not for the temporal muscle, there were no changes in EMG values for the studied muscles during mastication. Conclusion: the surgical release of TMJ ankylosis resulted in an increase of mouth opening and decreased amplitude of action potentials generated during maximum isometric voluntary contraction of the masseter muscle on both sides, this did not change the asymmetry index of the masseter and temporal as well as the electromyographic activity of the temporal muscle bilaterally during isometric contraction and masseter and temporal muscles during mastication.

Assessing joint effusion and bone changes of the head of the mandible in MR images of symptomatic patients

The aim of the present study was to investigate the relationship between degenerative bone changes of the head of the mandible and the presence of joint effusion (JE). This study was based on sagittal magnetic resonance imaging (MRI) reports of 148 temporomandibular joints (TMJs) of 74 patients complaining of pain and/or dysfunction in the TMJ area. The mandible heads were surveyed for osteoarthritis characteristics, which were classified as osteophytosis, sclerosis or erosion. The presence of JE was checked whenever high signal intensity was observed in the articular space. The results evidenced the presence of bone changes in 30% of the sample. Osteophytes and erosions were the changes most commonly observed. JE was reported in 10% of TMJs. The results from the statistical tests revealed that bone changes in the head of the mandible are associated with the presence of JE.

REABSORÇÃO CONDILAR INTERNA DA ARTICULAÇÃO TEMPOROMANDIBULAR NO PACIENTE ADOLESCENTE

A reabsorção condilar interna no adolescente (RCIA) é uma doença progressiva que afeta a articulação temporomandibular (ATM) e que pode resultar em maloclusão, deformidade facial, disfunção de ATM e dor. O aparecimento desta doença ocorre entre os 10 e os 15 anos, sendo mais freqüente em adolescentes do sexo feminino. Esses pacientes apresentam sinais clínicos característicos como: ângulo do plano oclusal e do plano mandibular aumentados, retrusão progressiva da mandíbula e maloclusão Classe II, com ou sem mordida aberta. Nos exames de imagem (tomografia computadorizada e ressonância magnética), observa-se reabsorção interna dos côndilos e deslocamento dos discos articulares da ATM. Tendo em vista a dificuldade em determinar a causa da RCIA e a importância em eliminar a dor e melhorar a função mastigatória, este estudo se propôs a avaliar as alterações promovidas no posicionamento mandibular, a sintomatologia dolorosa e a estabilidade do tratamento da RCIA, utilizando o protocolo de tratamento (Dr. Larry M. Wolford) em pacientes adolescentes submetidos a cirurgia de reposicionamento do disco articular e cirurgia ortognática, realizadas no mesmo ato cirúrgico. Neste estudo retrospectivo, foram avaliadas as telerradiografias laterais adquiridas na avaliação inicial (T1), pré-cirúrgica (T2), pós-cirúrgica imediata (T3) e de maior acompanhamento, com pelo menos um ano pós-cirurgia (T4) e questionários de dor e função mandibular de uma amostra de 24 pacientes com maloclusão de Classe II (20 do sexo feminino e 4 do sexo masculino) diagnosticados com RCIA, os quais foram submetidos ao protocolo de tratamento composto pela cirurgia de reposicionamento do disco articular da ATM concomitantemente à cirurgia ortognática. O protocolo de tratamento utilizado mostrou-se bastante positivo, uma vez que a estabilidade foi adquirida e uma melhora significativa nos níveis de dor e função mandibular foram atingidos. O tratamento dos pacientes diagnosticados com RCIA, através do protocolo de tratamento proposto, é um procedimento estável e atua diretamente em um ganho na redução da dor.

Quality of life and general health in patients with temporomandibular disorders

The aim of this study was to associate minor psychiatric disorders (general health) and quality of life with temporomandibular disorders (TMD) in patients diagnosed with different TMD classifications and subclassifications with varying levels of severity. Among 150 patients reporting TMD symptoms, 43 were included in the present study. Fonseca's anamnestic index was used for initial screening while axis I of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC-TMD) was used for TMD diagnosis (muscle-related, joint-related or muscle and joint-related). Minor psychiatric disorders were evaluated through the General Health Questionnaire (GHQ) and quality of life was assessed using the World Health Organization Quality Of Life-Brief Version (WHOQOL-BREF). An association was found between minor psychiatric disorders and TMD severity, except for stress. A stronger association was found with mild TMD. Considering TMD classifications and severity together, only the item "death wish" from the GHQ was related to severe muscle-related TMD (p = 0.049). For quality of life, an association was found between disc displacement with reduction and social domain (p = 0.01). Physical domains were associated with TMD classifications and severity and the association was stronger for muscle and joint-related TMD (p = 0.37) and mild TMD (p = 0.042). It was concluded that patients with TMD require multiple focuses of attention since psychological indicators of general health and quality of life are likely associated with dysfunction.

O papel da Ortodontia na disfunção temporomandibular

Introdução: As disfunções temporomandibulares assumem um papel cada vez mais importante na prática diária do médico dentista pois são uma desordem músculo-esquelética com elevado impacto na vida das pessoas. Desenvolvimento: Caracterizadas por uma etiologia multifactorial, desde cedo que os estudos científicos procuraram determinar quais os factores causais despoletantes e perpetuantes das disfunções. É importante a avaliação individual de cada caso clínico pois vários factores têm sido de uma forma mais ou menos profunda relacionadas com o desenrolar destas patologias. Ao longo dos anos, o papel que a oclusão representa no desenvolvimento das disfunções temporomandibulares tem sido excessivamente debatido levando a variadas opiniões e a elevada controvérsia. O seu impacto nas disfunções do sistema mastigatório veio a repercutir-se no tema da ortodontia e este interesse deveu-se essencialmente ao fato de o tratamento ortodôntico alterar as condições oclusais dos pacientes despoletando dúvidas sobre qual a influência desta terapêutica como factor causal de disfunções temporomandibulares posteriores ao tratamento. Conclusão: O sucesso do tratamento da disfunção temporomandibular depende de uma análise criteriosa da situação clínica e dos seus factores etiológicos, para que se seleccione a terapêutica adequada. É importante estudar cada caso, planear e adaptar a correcta terapêutica às diferentes situações. Da mesma forma, o sucesso do tratamento ortodôntico requer as mesmas premissas para um resultado final positivo, quer do ponto de vista estético como funcional.