Distúrbios funcionais da oclusão e sua correlação com radiografias transcranianas da articulação temporomandibular, em pacientes portadores de fissuras labiopalatais

Anamnesis, clinical examinations and temporomandibular joint transcraneal radiographs for 22 adults with cleft lip and palate were carried out in order to evaluate the occlusion and correlate it with radographic findings. The conclusions were: 72.8% of the patients have at least one sign or symptom of craniomandibular disorders (CMD); although the occlusal conditions were severely altered, most of the signs and symptoms were classified as mild; the greater frequency of the signs and symptoms occurred among women; in the radiographic evaluation, all of the assymptomatic patients had both condyles with normal contour and all of the patients with altered contour had at least one sign or symptom; the bilateral centered position of the condyles in the fossa e did not warrant the absence of signs and symptoms; some patients with bilateral condyles positioned posteriorly or caudally or even assimetrically, did not present signs and symptoms of dysfunction; the radiographic findings should be correlated with clinical findings; and a great number of patients were not observed with clinical board of C:MD caused by the occlusion. Key words: Radiography; temporomandibular joint; temporomandibular joint syndrome; cleft palate; dental occlusion

Estudo da correlação linear entre a dimensão da largura maxilar e as dimensões das larguras de outras grandezas, lineares, transversas da face, em portadores de fissura transforame incisivo unilateral, através da cefalometria radiográfica, em norma frontal

This research presents the results of a cephalometric radiography study, in frontal norm, that was used to measure the possible linear correlations between several linear dimensions of the face, in a sample of a 140 caucasian brazilians, with an average age of 20 years, who were distributed in 2 groups as follows: Control group - formed of 35 males and 35 females, with no apparent facial deformities and with dental oclusion, not necessarily, in Angle's Class I; Unilateral cleft lip and palate group - formed of 35 males and 35 females with surgical correction of the up in the first year and of the palate until the third year of life, without orthodontic treatment. ln each teleradiography, the following parameters were measured using a computer: - Lateral orbit width or external orbit width (LOe) - Medial orbit width or internal orbit width (LOI) - Zygomatic width or facial width (LZI) - Mastold width (LMa) - Maxilar width (LMx) - Nasal width (LNa) - Condilar width (LCo) - Antigonial width (LGa) The values obtained were treated statistically using quantitative analysis (arithmetic mean, standard deviation, standard mean error, Person's variation factor and Pearson factor linear correlation). Theirs significance was established by Student's t test. The Pearson factor linear correlations determined between transverse linear cephalometric width dimensions of face in frontal norm for individuals of both groups and sex, with an average age of 20 years, were: ...

Comportamento informacional de profissionais no domínio da saúde: um estudo junto ao Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo

Pós-graduação em Ciência da Informação - FFC

Fixação do enxerto ósseo autógeno em bloco com adesivos a base de cianoacrilato ou parafuso de titânio: estudo histológico em coelhos

Pós-graduação em Odontologia - FOA

Prótese de palato em sujeitos com disfunção velofaríngea: expectativa e ansiedade

Cleft lip and palate (CLL) is a very common craniofacial anomaly. The cleft is usually corrected with surgery which may fail resulting in velopharyngeal dysfunction (VPD). The use of palatal prosthesis is an alternative treatment for correcting both, CLP and VPD. This study evaluated anxiety symptoms expectations of subjects of both genders, with velopharyngeal dysfunction, referred to palatal prosthesis program for VPD treatment. In this cross sectional and descriptive study 30 subjects with velopharyngeal dysfunction, aged 15 to 64 years old (mean age of 28) were interviewed at the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC). All subjects referred to the palatal prosthesis program at HRAC in the year of 2005 were considered for participation in the study but only the first 30 candidates were included. A questionnaire addressing expectation elaborated by the researcher and the Beck Scale on anxiety were used. All subjects showed expectation regarding speech modification. Changes in professional and affective aspects of their lives after changes in speech were obtained with palatal prosthesis were the most reported expectations. Subjects’ age and gender influenced anxiety levels significantly which were minimum across subjects. High levels of expectation were more frequent than anxiety in the sample population.

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the MLL2 gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. (C) 2012 Wiley Periodicals, Inc.

The Role of Keratinized Mucosa in Peri-Implant Health

Objective: To evaluate the role of keratinized mucosa around dental implants, correlating with other clinical parameters related to the success of dental implants. Design: Cross-section. Setting: Institutional tertiary referral hospital. Patients: A total of 202 dental implants fixed in the cleft area of 109 patients with cleft lip and/or palate were evaluated. Interventions: The evaluated clinical parameters were probing depth and gingival and plaque indexes on the buccal surface (three sites). Main Outcome Measures: All clinical parameters were correlated with the width of keratinized mucosa around the implants. Results: The largest probing depths were detected when the width of keratinized mucosa was 2 mm or more, with a statistically significant difference between the means of the probing depth and keratinized mucosa width. Conclusion: Even though the present results suggest that peri-implant health can be observed in areas with keratinized mucosa width under 2 mm provided an adequate oral hygiene control is performed, longitudinal randomized studies are necessary to analyze the relationship between the width of keratinized mucosa and the health of peri-implant tissues.

Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations

We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2 markers in 682 cleft families from multiple populations. Alleles for each AXIN2 marker were tested for transmission distortion with clefts by means of the Family-based Association Test. We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004). We confirmed our association findings in an additional 528 cleft families from the United States (p < 0.009). We tested for gene-gene interaction between AXIN2 and additional cleft susceptibility loci. We assessed and detected Axin2 mRNA and protein expression during murine palatogenesis. In addition, we also observed co-localization of Axin2 with Irf6 proteins, particularly in the epithelium. Our results continue to support a role for AXIN2 in the etiology of human clefting. Additional studies should be performed to improve our understanding of the biological mechanisms linking AXIN2 to oral clefts.

Clinical findings in patients with GLI2 mutations - phenotypic variability

Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like (HPE-L) phenotypes and postaxial polydactyly. Subsequently, anophthalmia plus orbital anomalies, heminasal aplasia, branchial arch anomalies and polydactyly have also been incorporated into the general phenotype. Here we described six Brazilian patients with phenotypic manifestations that range from isolated cleft lip/palate with polydactyly, branchial arch anomalies to semi-lobar holoprosencephaly. Novel sequence variants were found in the GLI2 gene in patients with marked involvement of the temporomandibular joint (TMJ), a new clinical finding observed with mutations of this gene. Clinical, molecular and genetic aspects are discussed.

O brinquedo terapêutico e o preparo da criança para cirurgia de correção de fissura labiopalatina

Objectives: to use the toy as a therapeutic resource in the preparation of children undergoing surgical repair of cleft lip and palate preoperatively; to describe quali-quantitativelly the behavioral reactions of the child during the two periods, pre-and postoperatively. Method: quali-quantitative study, developed in a specialized hospital, with 40 children aged between 7 and 12 years old who underwent surgery for correction of cleft lip and palate. Data collection was by means of an instrument with 21 behavioral variables preoperatively and postoperatively. Content analysis was used in the speech of mothers and children. This study was the research project approved by the Ethics Committee, CAAE No. 050/2011. Results: the variable is a presented questioner p> 0.0265 and four categories emerged after content analysis. Conclusion: therapeutic toy is a feature that makes children relieve stress, and facilitates the implementation of nursing care.

Hotsite de psicologia: informações de interesse sobre anomalias craniofaciais

Este artigo teve como objetivo obter dados para elaborar um hotsite de Psicologia, voltado a familiares e pacientes tratados no Hospital de Reabilitação de Anomalias Craniofaciais - Universidade de São Paulo, em Bauru, estado de São Paulo, abordando temas que envolvem malformações labiopalatais e suas consequências psicológicas. Foi realizada entrevista elucidativa com 200 pais/acompanhantes e 100 pacientes em tratamento no Hospital, buscando definir seus interesses e possibilidades de utilizar um hotsite, a caracterização do perfil do usuário, o conhecimento e confiabilidade na atuação do psicólogo, e o levantamento dos temas de interesse. O hotsite foi aceito pelos entrevistados, que não só relataram interesse nesse tipo de serviço, como também acreditam nele para a resolução de suas dúvidas e anseios. Os temas de interesse citados foram a atuação do psicólogo, os aspectos da malformação e o envolvimento psicoemocional. Os resultados indicam que é viável esse tipo de acompanhamento, atendendo às necessidades individuais, momentâneas e, por vezes, emergenciais dos usuários.

Percepção dos pais sobre a habilidade de atenção auditiva de seu filho com fissura labiopalatina: estudo retrospectivo

INTRODUÇÃO: Para processar e decodificar o estímulo acústico são necessários mecanismos cognitivos e neurofisiológicos. O estímulo auditivo sofre influências de fatores cognitivos de nível mais alto, tais como a memória, atenção e aprendizagem. A privação sensorial ocasionada por perda auditiva do tipo condutiva, frequente na população com fissura labiopalatina, pode afetar várias funções cognitivas - dentre elas a atenção, além de prejudicar os desempenhos escolares, linguísticos e interpessoais. OBJETIVO: Verificar a percepção dos pais de crianças com fissura labiopalatina sobre a atenção auditiva de seus filhos. MÉTODO: Estudo retrospectivo de crianças com qualquer tipo de fissura labiopalatina, sem qualquer síndrome genética associada cujos pais responderam a um questionário pertinente sobre a habilidade de atenção auditiva. RESULTADOS: 44 são do gênero masculino e 26 do gênero feminino, 35,71% das respostas foram afirmativas para a presença de perda auditiva e 71,43% para infecções otológicas. CONCLUSÃO: A maioria dos pais entrevistados apontou pelo menos um dos comportamentos relacionados à atenção contidos no questionário, indicando que a presença de fissura labiopalatina pode estar relacionada com dificuldades quanto à atenção auditiva.

Studio del possibile ruolo del complesso polycomb nel determinare la schisi del labbro e del palato

La labioschisi con o senza palatoschisi non-sindromica (NSCL/P) è tra le più frequenti alterazioni dello sviluppo embrionale, causata dall’interazione di fattori genetici e ambientali, moti dei quali ancora ignoti. L'obiettivo del mio progetto di Dottorato consiste nell’identificazione di fattori di rischio genetico in un processo a due stadi che prevede la selezione di geni candidati e la verifica del loro coinvolgimento nella determinazione della malformazione mediante studi di associazione. Ho analizzato alcuni polimorfismi a singolo nucleotide (SNPs) dei geni RFC1 e DHFR, appartenenti alla via metabolica dell’acido folico, evidenziando una debole associazione tra alcuni degli SNPs indagati e la NSCL/P nella popolazione italiana. Presso il laboratorio della Dott.ssa Mangold dell’Università di Bonn, ho valutato il ruolo di 15 diverse regioni cromosomiche nel determinare la suscettibilità alla malattia, evidenziando una significativa associazione per i marcatori localizzati in 8q24 e 1p22. Ho quindi rivolto la mia attenzione al ruolo del complesso Polycomb nell’insorgenza della schisi. Nell’uomo i due complessi Polycomb, PRC1 e PRC2, rimodellano la cromatina agendo da regolatori dei meccanismi trascrizionali alla base della differenziazione cellulare e dello sviluppo embrionale. Ho ipotizzato che mutazioni a carico di geni appartenenti a PRC2 possano essere considerati potenziali fattori di rischio genetico nel determinare la NSCL/P. Il razionale consiste nel fatto che JARID2, una proteina che interagisce con PRC2, è associata all’insorgenza della NSCL/P ed espressa a livello delle cellule epiteliali delle lamine palatine che si approssimano alla fusione. L’indagine condotta analizzando i geni di elementi o partner dei due complessi Polycomb, ha evidenziato un’associazione significativa con alcuni polimorfismi dei geni indagati, associazione ulteriormente confermata dall’analisi degli aplotipi. Le analisi condotte sui geni candidati mi hanno permesso di raccogliere dati interessanti sull’eziologia della malformazione. Studi indipendenti saranno necessari per poter validare l'associazione tra le varianti genetiche di questi geni candidati e la NSCL/P.

Periodontal disease progression in subjects with orofacial clefts over a 25-year follow-up period

AIMS: To assess rates of periodontal disease progression in subjects with cleft lip, alveolus and palate (CLAP) over a 25-year period without regular maintenance care in a specialist setting and to compare those with those of subjects without alveolar clefts, i.e. cleft lip (CL) or cleft palate (CP). MATERIAL AND METHODS: Ten subjects with CLAP and 10 subjects with CL/CP were examined in 1979, 1987, 1993 and 2004. Probing pocket depth (PPD), clinical attachment level (CAL), bleeding on probing (BoP) and plaque control record (PCR) scores were recorded in all 20 subjects. RESULTS: High plaque and BoP scores were recorded at all examinations in both groups. Over 25 years, a statistically significant loss of mean full-mouth CAL of 1.52 +/- 0.12 mm (SD) and 1.66 +/- 0.15 mm occurred in the CLAP and CL/CP group respectively (p<0.05). A statistically significant increase (p<0.05) in mean full-mouth PPD of 0.35 +/- 0.12 mm was observed in the CL/CP group, whereas only a trend for a mean full-mouth increase in PPD of 0.09 +/- 0.11 mm was observed in the CLAP group. In subjects with CLAP, a statistically significant increase (p<0.05) in PPD of 0.92 +/- 1.13 mm at cleft sites was observed compared with that of 0.17 +/- 0.76 mm at control sites. With respect to CAL, the loss at the corresponding sites amounted to 2.71 +/- 1.46 and to 2.27 +/- 1.62 mm, respectively (p=0.36). CONCLUSIONS: When stringent and well-defined supportive periodontal therapy was not provided, subjects with orofacial clefts were at high risk for periodontal disease progression. Over 25 years, alveolar cleft sites tended to have more periodontal tissue destruction compared with control sites.

Failures and complications in patients with birth defects restored with fixed dental prostheses and single crowns on teeth and/or implants

OBJECTIVES: To assess retrospectively, over at least 5 years, the incidences of technical and biological complications and failures in young adult patients with birth defects affecting the formation of teeth. MATERIAL AND METHODS: All insurance cases with a birth defect that had crowns and fixed dental prostheses (FDPs) inserted more than 5 years ago were contacted and asked to participate in a reexamination. RESULTS: The median age of the patients was 19.3 years (range 16.6-24.7 years) when prosthetic treatment was initiated. Over the median observation period of 15.7 years (range 7.4-24.9 years) and considering the treatment needs at the reexamination, 19 out of 33 patients (58%) with reconstructions on teeth remained free from all failures or complications. From the patients with FDPs and single unit crowns (SCs) on implants followed over a median observation period of 8 years (range 4.6-15.3 years), eight out of 17% or 47% needed a retreatment or repair at some point due to a failure or a complication. From the three groups of patients, the cases with amelogenesis/dentinogenesis imperfecta demonstrated the highest failure and complication rates. In the cases with cleft lip, alveolus and palate (CLAP) or hypodontia/oligodontia, 71% of the SCs and 73% of the FDPs on teeth (FDP T) remained complication free over a median observation period of about 16 years. Sixty-two percent of the SCs and 64% of the FDPs on implants remained complication free over 8 years. Complications occurred earlier with implant-supported reconstructions. CONCLUSIONS: Because healthy, pristine teeth can be left unprepared, implant-supported SCs and FDPs are the treatment choice in young adults with birth defects resulting in tooth agenesis and in whom the edentulous spaces cannot be closed by means of orthodontic therapy. However, the trend for earlier and more frequent complications with implant-supported reconstructions in young adults, expecting many years of function with the reconstructions, has to be weighed against the benefits of keeping teeth unprepared. In cases with CLAP in which anatomical conditions render implant placement difficult and in which teeth adjacent to the cleft require esthetic corrections, the conventional FDP T still remains the treatment of choice.