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OBJETIVO: o objetivo deste estudo foi conhecer os principais aspectos legais relacionados ao exercício da Ortodontia que podem ser utilizados como importantes instrumentos de defesa em caso de ação ética e/ou judicial. MÉTODOS: realizou-se um estudo transversal com ortodontistas de Belo Horizonte/MG, por meio de instrumento próprio (questionário), abordando os aspectos éticos e judiciais que envolvem essa especialidade. Foi solicitado, no questionário, o preenchimento dos seguintes campos: identificação pessoal, formação acadêmica, acessórios ortodônticos, higiene bucal, plano de tratamento, prestação de serviço, documentação ortodôntica, prescrição medicamentosa e vias de comunicação com o paciente, dentre outros. RESULTADOS: um montante de 237 ortodontistas, registrados no CRO-MG e domiciliados em Belo Horizonte, receberam o instrumento de coleta de dados. Desse universo, 69 (29,11%) responderam e devolveram os questionários. Dos 69 respondentes, 57,97% eram do gênero masculino e 42,03% do feminino. Em relação às instituições onde esses profissionais se graduaram, constatou-se que 52,17% deles se formaram em Instituições de Ensino Superior (IES) privadas. Observou-se que 34,78% dos ortodontistas concluíram a especialização entre 5 e 10 anos após o término da graduação. A maioria dos profissionais (94,2%) registra nos prontuários as quebras dos acessórios ortodônticos utilizados pelos pacientes e 53,62% desses ortodontistas arquivam, por todo o período de atividade profissional, a documentação ortodôntica dos pacientes. CONCLUSÕES: por intermédio desse estudo, ficou evidente que alguns parâmetros de análise foram bastante satisfatórios, como: a existência de modelos contratuais para a prestação de serviços, a comunicação com os pacientes e/ou os responsáveis por eles em caso de abandono de tratamento, o arquivo da documentação ortodôntica e o registro, no prontuário, de quebras e danos de acessórios ortodônticos. Contudo, algumas práticas ainda precisam ser adotadas, tais como: coleta da assinatura dos pacientes em caso de danos em acessórios ortodônticos e arquivo de cópia de prescrição medicamentosa e atestados. OBJECTIVE: The purpose of this study was to acquire knowledge about the key legal aspects of orthodontic practice, which may be used as important defense tools in the event of ethical and/or legal actions. METHODS: A cross-sectional study was conducted with dentists in Belo Horizonte, Minas Gerais State, Brazil, by means of a specific instrument (questionnaire) addressing the ethical and legal disputes that involve the orthodontic specialty. Participants were asked to fill out the following questionnaire fields: personal identification, academic background, orthodontic accessories, oral hygiene, treatment plan, service provision, orthodontic documentation, drug prescription and forms of communication with patients, among others. RESULTS: A total of 237 orthodontists, all members of the Regional Council of Dentistry, Minas Gerais State (CRO-MG) and living in Belo Horizonte, were given the data collection instrument. Out of this total, 69 (29.11%) answered and returned the questionnaires. Of the 69 respondents, 57.97% were male and 42.03% female. It was found that 52.17% of these professionals graduated from Higher Education Institutions (ISEs). It was observed that 34.78% of these orthodontists completed specialization between 5 and 10 years after graduation. Most professionals (94.2%) enter into their medical records information about any damage caused to the orthodontic accessories used by their patients and 53.62% of the orthodontists keep their patients' orthodontic documentation on file throughout their active professional life. CONCLUSIONS: This study revealed that some analysis parameters were very satisfactory, such as: the availability of service provision contract models, communication with patients and/or their lawful guardians in case of abandonment of treatment, orthodontic documentation files and the entering into the dental records of information concerning the breakage of and damage to orthodontic accessories. However, some practices have yet to be adopted, such as: patient signature should be collected in the event of damage to orthodontic accessories and copies of drug prescriptions and certificates should be kept on file.

Ectrodactyly-ectodermal dysplasia-clefting syndrome is an uncommon disorder that includes a clinical spectrum of limb, facial, ocular, internal ear, and urogenital malformations. The disease is caused by heterozygous mutations in the 3q27–29 located p63 gene. In this paper we describe a 17-year-old girl affected by ectrodactyly-ectodermal dysplasia-clefting syndrome with a de novo p63 mutation that predicts a heterozygous missense substitution (arginine to tryptophan substitution caused by a cytosine to thymine transition) at the amino acid 304 (R304W) of the p63 DNA-binding domain. Scattered freckles on face, legs, and abdominal region, an uncommon feature associated with this syndrome, were recognized in our patient. The clinical features and genotype-phenotype correlation with previous p63 mutations related to the syndrome are discussed and compared with those observed in our patient. This case expands the phenotypic spectrum of ectrodactyly-ectodermal dysplasia-clefting syndrome.

Fissuras do labio e/ou palato representam as anomalias congenitas craniofaciais mais comuns. OBJETIVO: Avaliar fatores de risco ambientais em pacientes com fissuras labio-palatinas nao-sindromicas, em um Servico de Minas Gerais. CASUISTICA E METODO: Realizou-se estudo caso-controle, avaliando 100 criancas com fissuras e 100 criancas sem alteracoes clinicas. As dimensoes de analise (idade, cor de pele, sexo, classificacao das fissuras, idade materna e paterna, ordem de paridade e intervalo interpartal) foram obtidas a partir de um questionario, sendo posteriormente construido banco de dados e as analises realizadas pelo programa SPSS 17.0. Os resultados foram analisados com risco relativo para cada variavel, para estimar odds ratios com intervalo de confianca de 95% seguido de analise bivariada e multivariada. RESULTADOS: Entre as 200 criancas, 54% foram do sexo masculino e 46% do feminino. Com relacao a cor da pele, houve predominio de parda, branca e preta, respectivamente. Entre os tipos de fissuras, as mais comuns foram as fissuras labio-palatinas (54%), seguidas pela fissura labial (30%) e fissura palatina (16%). CONCLUSAO: Embora com uma populacao limitada, verificou-se associacao entre idade materna e risco aumentado para fissuras labio-palatinas, porem idade paterna, ordem de paridade e intervalo interpartal nao foram significantes.

Objective The objective of this study was to describe the pattern of inheritance and the clinical features in a large family with tuberous sclerosis (TS), and to focus on the general diagnosis after the initial oral examination. Study design To characterize the pattern of inheritance and the clinical features, 61 familial members were systematically evaluated, including dermatologic, ophthalmologic, and orofacial examination. Imaging exams, such as abdomen ultrasonography, echocardiogram, fundoscopy, cranial cone-beam computerized tomography, and brain magnetic resonance, were performed. Hematoxylin and eosin stain and scanning electronic microscopy were performed to characterize TS-associated alterations in the teeth, nails, and hair. Results The pedigree of the family was constructed including the 4 last generations and revealed nonconsanguineous marriages and an autosomal dominant mode of TS transmission. We identified 13 family members affected by TS, with 6 of them completely fulfilling the diagnostic criteria of this disorder. Hypomelanotic macules in the skin, facial angiofibromas, and dental enamel pits were the most common features of affected patients. Central nervous system alterations were identified in 5 family members, whereas cardiac and renal alterations were found in 1 member each. Conclusion We emphasize, in this study, the importance of oral findings such as dental enamel pits and gingival angiofibromas in the early diagnosis of familial TS which led to complete familial profile and pattern of inheritance establishment.

Cleft lip and/or palate (CL/P) are the most common congenital anomalies of the face. CL/P are non-syndromic (CL/PNS) in about 70% of subjects.To describe clinical cases of non-syndromic CL/P (CL/PNS) associated with consanguinity, diagnosed at a reference hospital in Minas Gerais, Brazil, and to correlate these alterations with possible risk factors. SERIES AND METHODS: A retrospective study at a reference hospital for craniofacial deformities in Minas Gerais, Brazil from 2006 to 2009 based on data in medical records.Of 246 CL/PNS cases diagnosed and treated at the institution, 15 (6.1%) were CL/PNS with reported first-degree consanguinity; 73.3% occurred in males. Four of 15 patients had complete right cleft palate and lip (CLP), 4 presented complete cleft palate and lip (right and left), 3 had complete unilateral left CLP, 3 had isolated cleft palate, and 1 presented cleft lip only. Among the risk factors, only three mothers reported smoking during pregnancy.CLP (unilateral or bilateral) were more frequent in the group with a history of first-degree consanguinity; males predominated. Among the risk factors, only smoking was observed in three cases.

Purposes: The aim of this study was to evaluate the prevalence of drug-induced gingival overgrowth (DIGO) in Brazilian users of nifedipine and/or phenytoin and to determine the presence of predisposing/modifying factors. Methods: Demographic, pharmacological, and periodontal data were obtained from 100 users of the Brazilian Primary Health Care System in Diamantina, Jequitinhonha Valley, Minas Gerais state, Brazil, who were taking nifedipine and/or phenytoin. Clinical evaluations including gingival overgrowth analysis were carried out by a single calibrated examiner. Bivariate analysis (Chi-square test or Student’s t-test) were used to identify demographic, periodontal and drug-related significant factors associated with gingival overgrowth severity. Multivariate analysis (Poisson regression) was used to assess confounding factors. Results: The prevalence of DIGO was high (86%), but its severity was predominately mild. The prevalence of DIGO was significantly higher in phenytoin users than in nifedipine users (p=0.01). There was no association between DIGO and demographic, pharmacological or periodontal variables. Conclusion: The high occurrence of DIGO among users of nifedipine and phenytoin emphasizes the importance of the dentist as part of the public health team to provide the prevention, early diagnostic, and control of this alteration. Objetivo: Avaliar a prevalência dos aumentos gengivais medicamentosos em usuários brasileiros de nifedipina e fenitoína e determinar a presença de fatores preditores/modificadores. Metodologia: Dados demográficos, farmacológicos e periodontais foram obtidos de 100 pacientes usuários da Atenção Primária no Vale do Jequitinhonha que usavam nifedipina e/ou fenitoína. Avaliações clínicas, incluindo a análise do aumento gengival, foram feitas por um avaliador calibrado. Análises bivariadas (teste do qui-quadrado ou teste t de Student) foram usadas para identificar fatores demográficos, periodontais e medicamentosos que apresentassem associação com a severidade do aumento gengival. Foi utilizada análise multivariada (regressão de Poisson) para estimar a razão de prevalência e intervalo de 95% de confiança para identificar os fatores de risco associados ao desenvolvimento do AG. Resultados: A prevalência do aumento gengival foi elevada (86%), mas a gravidade mais comumente observada foi a leve. A prevalência foi maior em usuários de fenitoína do que de nifedipina (P=0.01). Não houve associação entre aumento gengival e as variáveis demográficas, farmacológicas e periodontais. Conclusão: A alta prevalência do aumento gengival medicamentoso entre os usuários de nifedipina e fenitoína enfatiza a importância do cirurgião dentista no diagnóstico, prevenção e controle dessa alteração.

OBJETIVO: O objetivo deste estudo foi avaliar o perfil e a produção científica de pesquisadores de Medicina, que têm bolsa de produtividade do Conselho Nacional de Desenvolvimento Científico e Tecnológico, de acordo com a área de atuação. MÉTODOS: Os currículos lattes de 411 pesquisadores com bolsas ativas no triênio 2006 a 2008 foram incluídos na análise. As variáveis de interesse foram: sexo, área de atuação; artigos publicados, e orientação de alunos de graduação, mestres e doutores. RESULTADOS: Houve uma predominância do sexo masculino (68%) e de bolsistas na categoria 2 (55,7%). Quatro Estados da Federação são responsáveis por 90% dos pesquisadores (SP, RJ, RS, MG). Oito instituições são responsáveis por aproximadamente 80% dos pesquisadores, destacando-se USP (30,7%) e UNIFESP (17%). Foram identificadas 30 áreas de atuação dos pesquisadores. Em relação à produção científica, a mediana de artigos publicados foi de 4,13/ano (Intervalo interquartil, IQ, 2,9 - 5,8). A mediana ajustada de artigos publicados na base de dados Web of Science foi de 2,23/ano (IQ, 1,4 - 3,2). Neurociências (3,16, IQ, 1,8 - 4,7) e Psiquiatria (2,92, IQ, 1,73 - 4,5) foram as áreas mais produtivas de artigos indexados. CONCLUSÃO: Há uma concentração dos pesquisadores da Medicina na região Sudeste. Nesse estudo pode ser observado um aumento da produção científica da maioria dos pesquisadores nos últimos cinco anos. Através do conhecimento do perfil dos pesquisadores da área de Medicina, podem ser definidas de maneira mais eficaz, estratégias para incentivar a produção científica e a demanda de recursos para o financiamento de projetos de pesquisa. OBJECTIVE: This study evaluated the profile and scientific production of researchers in Medicine who have a scholarship from the " Conselho Nacional de Desenvolvimento Científico e Tecnológico" . METHODS: The "Lattes" curriculum of 411 researchers in Medicine with active scholarships during the years of 2006 to 2008 were included in the analysis. Variables of interest were: gender; affiliation; scientific production, and supervision of undergraduate masters and doctorate students.. RESULTS: There was a male predominance (68%) and of scholarship level 2 (55.7%). Four states of Brazil are responsible for 90% of the researchers (SP, RJ, RS, and MG). Eight institutions account for about 80% of researchers, especially USP (30.7%) and UNIFESP (17%). The study identified 30 areas of expertise for researchers. In relation to scientific production, the median was 4.13 articles published per year (interquartile range, IQ, 2.9 - 5.8). The median adjusted for articles published in the database Web of Science was 2.23 per year (IQ, 1.4 - 3.2). The most productive areas of indexed articles were the areas of Neurosciences (3.16, IQ, 1.8 - 4.7) and Psychiatry (2.92, IQ, 1.73 - 4.5). CONCLUSION: Researchers in medicine are concentrated in the Southeast. This study has disclosed an increase in scientific output by most researchers in the last five years. Effective strategies to qualitatively improve the scientific output may possibly be enhanced by knowledge of the profile of researchers in Medicine.

O objetivo deste estudo foi conhecer a taxa de infecção pelo bacilo da Tuberculose entre estudantes dos dois primeiros e dois últimos períodos dos cursos de Medicina e Enfermagem da Universidade Estadual de Montes Claros, além de verificar o conhecimento sobre a transmissão e prevenção da tuberculose ocupacional, bem como a utilização destas medidas preventivas. Realizou-se estudo transversal, em que todos os estudantes dos dois períodos iniciais e dois períodos finais do curso de Medicina e de Enfermagem foram submetidos a um questionário padrão e ao teste tuberculínico (PPD), para determinar a prevalência de infecção por tuberculose. Os resultados mostraram diferença de reação ao teste tuberculínico nos estudantes dos períodos iniciais e finais do curso médico, enquanto nos estudantes de Enfermagem não houve diferença entre os períodos. Ficou evidenciado o limitado conhecimento sobre a transmissão e prevenção da aquisição de tuberculose, o que aumenta os riscos de aquisição do bacilo. The study aimed to identify the tuberculosis infection rate among students from the first and last two years in the Schools of Medicine and Nursing at the State University in Montes Claros, Minas Gerais, Brazil, in addition to verifying their knowledge on transmission and prevention of occupational tuberculosis and the use of the recommended preventive measures. A cross-sectional study was conducted in which all the students from the first and last two years of Medicine and Nursing answered a standard questionnaire and had a tuberculin skin test (TST) to determine the prevalence of tuberculosis infection. The results showed a difference in the TST reactivity rate between the first and final years of medical school, while there was no difference in nursing students. The study revealed the students' limited knowledge concerning tuberculosis transmission and prevention, leaving them at increased risk of tuberculosis infection.

Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face, corresponding to approximately 65% of all malformations of the craniofacial region.to describe unusual clinical cases of non-syndromic CL/P (CL/PNS), diagnosed in a reference service in Minas Gerais, Brazil, and correlate these alterations with possible risk factors.we carried out a retrospective study, between the years of 1992 and the 1st half of 2009, from medical records.Among the 778 cases of CL/PNS diagnosed in the period of 17 years, 5 (0.64%) were unusual CL/PNS, and all patients were male. It was found that among the 5 patients, 2 had incomplete right cleft lip with incomplete cleft palate, 2 were affected by left incomplete cleft lip and incomplete cleft palate, and 1 had a cleft lip and palate associated with complete right cleft palate. Risk factors such as consanguinity, maternal smoking and alcohol consumption, medication usage during pregnancy, history of abortion and/or stillbirths and maternal diseases were not associated with unusual CL/PNS.This study described 5 unusual cases of CL/PNS in a Brazilian population; no associations with the risk factors analyzed were seen. It also confirmed the unusualness of the prevalence of such alterations.

Oral Diseases (2010) 16, 193–197 Background: Interferon regulatory factor 6 (IRF6) gene has emerged as a potential susceptibility gene for non-syndromic cleft lip and/or palate (NSCL/P) in different populations. The aim of this study was to determine the association of IRF6 rs2235371 and rs642961 polymorphisms with NSCL/P in a Brazilian population. Methods: Two hundred and twenty-eight patients affected by NSCL/P and 126 healthy individuals were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results: Overall genotype distributions of rs2235371 and rs642961 polymorphisms were as expected by Hardy-Weinberg equilibrium test. The rs2235371 polymorphic genotype GA was identified in 10.1% of the patients with NSCL/P and in 10.3% of the control group, revealing no statistical difference. Similarly, the frequency of rs642961 minor genotypes (GA and AA) was quite similar between control group (28.6%) and NSCL/P group (25.4%), without significant difference. Conclusion: Our findings are consistent with a lack of involvement of IRF6 rs2235371 and rs642961 polymorphisms in the NSCL/P pathogenesis in the Brazilian population.

Foi objetivo deste trabalho avaliar o serviço de saúde bucal, através do estudo das percepções dos usuários, do município de Grão Mogol - norte de Minas Gerais, Brasil. Optou-se pela metodologia qualitativa, utilizando entrevista semi-estruturada. Foram levantados aspectos sobre percepção do processo saúde/doença bucal; conhecimentos, práticas e valor atribuído à saúde bucal; acesso aos serviços; relação profissional/paciente e assistência recebida. Obtiveram-se as idéias centrais em cada tema abordado nas entrevistas, sendo posteriormente agrupadas e analisadas, constituindo a análise final do estudo. Observou-se que o serviço de saúde bucal, no município, vive período de mudanças, mas existe ainda uma prática iatrogênica-mutiladora. No entanto, a prevenção e a promoção da saúde ganham espaço entre as ações de saúde, atuando como importantes fatores para a melhoria da assistência à saúde bucal e consequente melhoria na qualidade de vida da população. Os usuários percebem a evolução do serviço, mas admitem a necessidade de se organizar e definir melhor o acesso aos serviços e otimizar a comunicação profissional/paciente. A população começa a valorizar a saúde bucal como algo importante dentro das condições de vida de cada indivíduo. The objective of this study is to evaluate the oral health services in the city of Grão Mogol, Brazil by analyzing the user’s perceptions. It was chosen the qualitative methodology using a semi-structured interview. The aspects investigated included the perception of the process of oral health/illness; knowledge, practices and value attributed to oral health; access to services; professional/patient relationship and assistance received. The interviews were analyzed and the central ideas extracted, which were considered in a final analysis of the study. It was observed that the oral health service in this city is going through a period of changes, but it still exist an iatrogenic-mutilator practice. However, health prevention and promotion gains space within health actions, acting as important factors to enhance oral health assistance and resulting improvement of the population quality of life. Users can feel the evolution of the service, but admit the necessity of more organization and definition on the access to services as well as an improvement on the communication professional/patient. The population starts to value the oral health as something important within the life conditions of each individual.

The aim of this study was to describe the epidemiological profile of snakebite accidents in the healthcare macroregion of the north of the State of Minas Gerais, Brazil. Database information on snakebite accidents covering the period from January 2002 to December 2006 was analyzed. It was found that 10,553 cases were notified, and that the samples were noticeably larger in the months of hot and rainy weather, in urban areas (54.1%), at ages less then 20 years (39.7%) and among men and students (53.1% and 29.1%) respectively. The lower limbs (feet, toes, legs and thighs) were the locations most affected (35.9%). The most prevalent snakes were in the genus Bothrops (82.9%) and most of the accidents were mild (66.2%). In this study, it was seen that the seasonality, urbanization and undernotification of the species involved in these accidents had a notable impact, along with seeking walk-in care. It is expected that the new data obtained from this sample may serve as the substrate for planning and implementing measures for healthcare surveillance.

Cleft lip and palate (CL/P) are the most common congenital craniofacial anomalies.To evaluate environmental risk factors for non-syndromic CL/P in a reference care center in Minas Gerais.we carried out a case-controlled study, assessing 100 children with clefts and 100 children without clinical alterations. The analysis dimensions (age, skin color, gender, fissure classification, maternal and paternal age, birth order and interpregnancy interval), obtained from a questionnaire; and later we build a data base and the analyses were carried out by the SPSS 17.0 software. The results were analyzed with the relative risk for each variable, in order to estimate the odds ratio with a 95% confidence interval, followed by a bivariate and multivariate analysis.among 200 children, 54% were males and 46% were females. As far as skin color is concerned most were brown, white and black, respectively. Cleft palates were the most common fissures found (54%), followed by lip cleft (30%) and palate cleft (16%).although with a limited sample, we noticed an association between maternal age and an increased risk for cleft lip and palate; however, paternal age, pregnancy order and interpregnancy interval were not significant.

Tuberous sclerosis is a rare autosomal dominant disorder. Myofibroblasts are cells with a hybrid phenotype between fibroblasts and smooth muscle cells. The objective of this study is to describe clinical and histopathological characteristics of tuberous sclerosis and to conduct an immunohistochemical evaluation of myofibroblasts in cutaneous angiofibromas present in this condition. Lesion sections removed were stained with hematoxylin-eosin and Masson's trichrome. Immunohistochemistry against alpha-SMA was done to determine the presence of myofibroblasts, and the reaction was negative. Since alpha-SMA is a specific marker for myofibroblasts, this result suggests that myofibroblasts are not involved in cutaneous angiofibromas present in the tuberous sclerosis case reported.

Pesquisadores brasileiros têm demonstrado aumento na produção científica associada à publicação de trabalhos na literatura corrente. O objetivo deste estudo foi avaliar o perfil dos bolsistas de produtividade científica da área de Saúde Coletiva no Conselho Nacional de Desenvolvimento Científico e Tecnológico. Foram analisados os currículos Lattes de todos os pesquisadores da área de Saúde Coletiva no triênio 2004-2006. As variáveis estudadas foram: gênero, categoria do bolsista, instituição de origem, tempo de conclusão do doutorado, artigos nacionais e internacionais com o respectivo Qualis, publicação de livros e capítulos, orientações de iniciação científica, mestrado e doutorado e os periódicos utilizados para publicação. Entre os pesquisadores, houve similaridade de gêneros masculino e feminino (1,03:1), com a maioria dos bolsistas na categoria 2 (48,39%), distribuídos por 12 estados da federação, com predomínio de Rio de Janeiro e São Paulo. Do total, 73,54% dos bolsistas encontram-se vinculados a universidades e 66,45% deles concluíram o doutorado entre 5 a 15 anos. Na produção científica, verifica-se prevalência de artigos internacionais Qualis A e C e nacional B. A publicação de capítulos de livros foi 2,91 vezes superior ao de livros. Quanto à orientação, verifica-se prevalência na formação de mestres, seguida de doutores e de iniciação científica. Os periódicos que concentraram maior parte das publicações foram Cadernos de Saúde Pública e Revista de Saúde Pública, respectivamente. Estudos em outras áreas com metodologias similares possibilitarão melhor conhecimento da produção científica nacional e definição de estratégias de demandas induzidas de pesquisa. Brazilian researchers have shown an increase in scientific production associated with the publication of studies in the literature. This study aimed to evaluate the profile of researchers with scientific productivity grants in the Public Health area at the National Council for Scientific and Technological Development. We analyzed the Lattes curricula of all researchers in the Public Health field in 2004-2006. The variables were: gender, grant category, affiliation, time of completion of the doctorate, national and international papers with their correspondind Qualis, publication of books and book chapters, guidelines for basic scientific research and master's and doctorate's, and journals used for publication . Among researchers, there was similarity of male and female (1,03:1), with most scholars in category 2 (48.39%), spread over 12 states of the federation, with a predominance of Rio de Janeiro and Sao Paulo . Of the total, 73.54% of the recipients are linked to universities and 66.45% of them had completed the doctorate 5 to 15 years before. In scientific literature, there is prevalence of international papers Qualis A and C, and national B. The publication of book chapters was 2.91 times that of books. As for orientation, there is prevalence in the training of masters, followed by doctors and scientific initiation. The journals that concentrated most of the publications were Cadernos de Saúde Pública [Reports in Public Health] and Revista de Saúde Pública [Public Health Journal], respectively. Studies in other areas with similar methodologies will enable better understanding of the national scientific production and definition of strategies of demand-induced research.

To investigate the distribution of several types of clefts among adolescents and adults receiving treatment at the Center for Rehabilitation of Craniofacial Anomalies, Unifenas, Minas Gerais State, Brazil.A total 154 untreated patients of low socioeconomic means with cleft lips and/or palates, without additional malformations, who came to the Center for Rehabilitation of Craniofacial Anomalies for treatment were analyzed, and clinical and socioeconomic variables were detailed.A predominance of complete cleft lip and palate, either unilateral or bilateral, was observed (52.60%), followed by isolated cleft lip (33.12%) and isolated cleft palate (14.28%). A discrete relationship between cleft palate and the female gender was noticed, and males were more affected by other types of clefts.Non-Caucasian males with unilateral complete cleft lip and palate constituted the main profile of affected individuals.

Background: Metastases to the oral cavity are unusual, and most cases affect the jaws. The clinicopathologic features of a metastatic melanoma involving the mandibular gingiva and facial skin are described. Methods: A 42-year-old white woman who had been treated for plantar melanoma 10 years ago showed concomitant nodular lesions in the mandibular gingiva and facial skin. Incisional biopsy and fine needle aspiration cytology were performed in the gingival and facial swelling, respectively. Results: Radiographs revealed irregular bone erosion and widening of the periodontal ligament space associated with the gingival lesion, whereas cranial computed tomography showed an irregular hyperdense mass associated with the dermal tissue. The histopathologic findings were suggestive of melanoma; immunohistochemical analysis revealed, in both lesions, neoplastic cells strongly positive for S100 and HMB-45 antibodies and weak reactivity for melan-A. The final diagnosis of these lesions was metastatic melanoma, and the patient died before restarting treatment. Conclusions: To the best of our knowledge, this is the first English-language report of metastatic melanoma affecting the gingiva and facial skin concomitantly. The intraoral involvement of disseminated melanoma indicates a very poor prognosis, as confirmed by the current case.

OBJETIVO: Avaliar o perfil biopsicossocial de portadores de anoftalmia, com ênfase no impacto psicológico e funcional da perda ocular e na reintegração social dessa população. MÉTODOS: Realizou-se estudo transversal com 84 pacientes (50 do gênero masculino e 34 do feminino), reabilitados ou em processo de reabilitação com próteses oculares, avaliados por meio de questionário que contemplava dimensões como: etiologia da perda ocular, grau de adaptação à prótese e impacto nas atividades profissionais, sociais e escolares. RESULTADOS: O olho direito foi afetado em 45,2% dos pacientes, o olho esquerdo em 51,2%, e os demais apresentavam anoftalmia bilateral. Relataram dificuldade, atual ou já superada, de adaptação à visão monocular 47,5% dos participantes. No gênero masculino as principais causas da anoftalmia foram os traumatismos oculares por acidentes (54%), e no feminino, as doenças adquiridas (38,2%). Na população estudada, a perda ocular ocorreu, em média, aos 20,5 ± 18,4 anos, e o tempo decorrido até a primeira reabilitação protética foi de 8,6 ± 13,1 anos. A maioria dos pacientes (66,1%) relatou satisfação e boa adaptação à prótese ocular. Sentimentos de tristeza, vergonha e timidez foram freqüentemente relatados. CONCLUSÃO: Pacientes com anoftalmia freqüentemente apresentam transtornos psíquicos e/ou funcionais que dificultam sua readaptação ao meio social, profissional e familiar, o que é agravado por fatores econômicos e pela carência de serviços públicos que ofereçam tratamento reabilitador. A realização de campanhas de esclarecimento à população também pode ser útil para a prevenção das causas que levam à perda ocular. PURPOSE: To evaluate the biopsychosocial profile of patients with anophthalmia, with emphasis on the psychological and functional impact of eye loss and the social reintegration of this population. METHODS: Prospective analyses of 84 patients (50 males and 34 females), rehabilitated or in the rehabilitation process with ocular prostheses were interviewed by means of a questionnaire with dimensions involving the etiology of the ocular defect, degree of adaptation to the ocular prosthesis, and impact on professional, family and social activities. RESULT: The right eye was affected in 45.2% of the patients, the left eye in 51.2%, and the rest of the patients had bilateral anophthalmia. Difficulty in adapting to monocular vision was reported by 47.6% of the patients. The main causes of anophthalmia in males were eye injuries due to accidents (54%), and, in females, acquired diseases (38.2%). For the total studied population, the eye loss occurred at a mean of 20.5 ± 18.41 years, and the elapsed time until the first rehabilitation with ocular prosthesis was of 8.6 ± 13.10 years. Most patients (66.1%) reported satisfaction and good adaptation to the prosthesis. Feelings of sadness, shame and shyness were frequently reported. CONCLUSION: Anophtalmic patients often exhibit psychic and/or functional disorders which hinder their social, professional and family readaptation, and this is aggravated by both economic factors and lack of public services that provide rehabilitative treatment. Public information campaigns could also be useful to prevent causes that lead to ocular loss.

Renal tubular acidosis (RTA) is characterized by metabolic acidosis due to impaired renal acid excretion. Untreated RTA may lead to growth failure, osteoporosis, rickets, nephrolithiasis, and even renal failure. Oral manifestations in distal RTA (dRTA), the most common form of RTA, are very rarely reported. We hereby report the oral manifestations of five patients with dRTA. Oral alterations were observed in these five patients with dRTA, ranging from generalized yellowish discoloration to rough surfaces with loss of the enamel structure. Loss of contrast between enamel and dentin was observed in all patients while teeth with wide pulp chambers characterizing hypotaurodontism were detected in one patient. This study is the first report of dental alterations in Brazilian patients with dRTA. Enamel hypoplasia was the most common finding. We believe that abnormalities of the biomineralization process found in patients with dRTA might also affect calcium deposition in dental tissues.

To evaluate the biopsychosocial profile of patients with anophthalmia, with emphasis on the psychological and functional impact of eye loss and the social reintegration of this population.Prospective analyses of 84 patients (50 males and 34 females), rehabilitated or in the rehabilitation process with ocular prostheses were interviewed by means of a questionnaire with dimensions involving the etiology of the ocular defect, degree of adaptation to the ocular prosthesis, and impact on professional, family and social activities.The right eye was affected in 45.2% of the patients, the left eye in 51.2%, and the rest of the patients had bilateral anophthalmia. Difficulty in adapting to monocular vision was reported by 47.6% of the patients. The main causes of anophthalmia in males were eye injuries due to accidents (54%), and, in females, acquired diseases (38.2%). For the total studied population, the eye loss occurred at a mean of 20.5 +/- 18.41 years, and the elapsed time until the first rehabilitation with ocular prosthesis was of 8.6 +/- 13.10 years. Most patients (66.1%) reported satisfaction and good adaptation to the prosthesis. Feelings of sadness, shame and shyness were frequently reported.Anophtalmic patients often exhibit psychic and/or functional disorders which hinder their social, professional and family readaptation, and this is aggravated by both economic factors and lack of public services that provide rehabilitative treatment. Public information campaigns could also be useful to prevent causes that lead to ocular loss.

The aim of the present study was to analyze the prevalence of nonsyndromic oral clefts in children receiving treatment at the Center for the Rehabilitation of Craniofacial Anomalies, José do Rosário Vellano University, Alfenas, MG, Brazil. All the data for the epidemiological study was retrieved from the files of 126 pediatric patients with oral clefts without any additional malformation, who came to the center for treatment between 2000 and 2005. A predominance of clefts was observed in Caucasians, and the ratio of male to female was 1.3. Males were 2.57 times more affected by cleft lip and palate (CLP) than females. CLP with a prevalence of 39.68% and isolated cleft lip (CL) with a prevalence of 38.09% were the most common anomalies, followed by isolated cleft palate (CP; 22.23%). Complete and unilateral CLP (26.19%) presented the highest prevalence, followed by incomplete and unilateral CL (23.81%). The present study presents the experience of a reference hospital in the state of Minas Gerais; however, the real prevalence of oral clefts in Brazil is still unknown. Our findings differ from those of a few previous Brazilian reports because they suggest similar prevalences of CLP and CL, and a higher prevalence of CLP in Caucasian males. O objetivo do presente estudo foi analisar a prevalência de fissuras orais não-sindrômicas em crianças que receberam tratamento no Centro de Reabilitação de Anomalias Craniofaciais da Universidade José do Rosário Vellano, Alfenas, MG, Brasil. Todos os dados epidemiológicos deste estudo foram obtidos dos arquivos de 126 pacientes pediátricos com fissuras orais sem outra malformação adicional que compareceram ao Centro para tratamento entre 2000 e 2005. O predomínio das fissuras foi observado em caucasianos e a relação entre homens e mulheres foi de 1,3. Os homens foram 2,57 vezes mais atingidos por fissuras lábio-palatais (FLP) do que as mulheres. FLP com prevalência de 39,68% e fissuras labial isolada (FL) com prevalência de 38,09% foram as anomalias mais comuns, seguidas por fissuras palatinas isoladas (FP, 22,23%). As FLP completas e unilaterais (26,19%) foram as de maior prevalência, seguidas por FL incompletas e unilaterais (23,81%). O presente estudo mostrou a experiência de um Hospital de Referência em Minas Gerais; contudo, a verdadeira prevalência de fendas orais ainda é desconhecida. Nossos achados divergem dos de alguns poucos estudos anteriores por demonstrar prevalências similares de FLP e FL, e um acometimento maior de FLP em caucasianos do sexo masculino.

Vascular malformations or even hemangiomas need therapeutic intervention if they start to cause clinical symptoms or personal discomfort. Different therapeutic modalities, including cryotherapy, corticosteroids, laser therapy, sclerotherapy, surgery, and/or embolization, can be performed successfully. Sclerotherapy with monoethanolamine is a relatively simple and effective method to treat low flow vascular lesions. We presented a report of six cases of vascular malformations treated with monoethanolamine. There were 3 male and 3 female patients, with an age range of 20 to 68 years. The patients were submitted to applications according to clinical response and/or tolerability. In all cases, low-flow vascular lesions were recorded and submitted to infiltration with 2.5% monoethanolamine, directly into the lesions. The volume applied was approximately the middle of affected area. Vascular lesions were characterized as low-flow due to absence of arterial pulsation and flat consistence. The sclerosis with 2.5% monoethanolamine resulted in complete or partial involution, without severe complications.

Objective: This report describes the clinical and genetic features of two large and unrelated families with Van der Woude syndrome in Brazil, emphasizing the range of anomalies found within and between the families. Patients: Family 1 included 54 descendants spanning five generations, with 12 (22.23%) individuals manifesting Van der Woude syndrome. In family 2, examinations comprised 17 descendants distributed over four generations, and 8 (47.06%) people presented features of Van der Woude syndrome. Results: In family 1, the first two generations were not affected, but the other three generations had affected members showing a unique association of lip pits and cleft lip/palate with equilibrated gender distribution. In family 2, all generations were affected, and the clinical expression of disease was heterogeneous, including members with isolated clefts, isolated lip pits, and association of cleft lip/palate with lip pits. In both families, affected members transmitted their traits to descendants in an autosomal dominant mode of inheritance with apparent low penetrance in family 1, but high penetrance in family 2. Patients were treated surgically by cheiloplasty and/or palatoplasty with satisfactory results. Conclusions: Van der Woude syndrome was transmitted by an autosomal dominant pattern with variable expressivity and penetrance and equilibrated gender distribution. Physicians should be aware of the variety of malformations that can be associated with Van der Woude syndrome. Genetic counseling in Van der Woude syndrome affected families is important, because a high percentage of descendants can have some kind of clefting.

Background/aim Previously, we have shown that myofibroblasts, the main cell type associated with interstitial fibrosis, may be implicated with the gingival overgrowth observed in hereditary gingival fibromatosis (HGF) patients. The goal of this study was to determine whether transforming growth factor-beta1 (TGF-beta1) stimulates myofibroblast generation in gingival fibroblast cultures. Moreover, we analysed how interferon-gamma (IFN-gamma) interferes in this process. Material and methods Fibroblast cultures from normal gingiva and myofibroblast cells from HGF were included in this study. To determine the effects of TGF-beta1 and IFN-gamma stimulation in these cells, the expression of the specific myofibroblast marker smooth muscle isoform of alpha-actin (alpha-SMA) was examined by semi-quantitative reverse transcriptase-polymerase chain reaction (RT-PCR), Western blot and immunofluorescence. Enzyme-linked immunosorbent assay (ELISA) for type I collagen was performed to measure the myofibroblast activity. Results Our results demonstrated that TGF-beta1 promotes a dose- and time-dependent increase in the expression of alpha-SMA, whereas IFN-gamma blocks it and markedly prevents the fibroblast-myofibroblast switch induced by TGF-beta1 on normal gingiva cultures. IFN-gamma altered HGF myofibroblasts metabolism with a decrease of both alpha-SMA and type I collagen expression. Additionally, IFN-gamma treatment stimulated SMAD7 expression and inhibited connective tissue growth factor, which has been considered a key molecule to promote the transdifferentiation of myofibroblasts via TGF-beta1 activation. Conclusions These findings demonstrate that TGF-beta1 induces gingival fibroblast-myofibroblast transdifferentiation, whereas IFN-gamma blocks this process. More importantly, this study suggests that IFN-gamma may be clinically effective in attenuating excessive accumulation of extracellular matrix produced by myofibroblasts in HGF.

Summary. Aim. The present paper reports a case of peripheral odontogenic fibroma (POF) (WHO type) in a newborn. The differential diagnosis and treatment were discussed. Background. POF is well described in the literature, but this is the first report in a newborn. Patient. A 4-month-old female newborn was referred to our department because of an exophytic, sessile, firm, and well-delimited lesion on the right upper alveolar ridge. The covering mucosa was apparently normal. The lesion measuring 10 × 3 mm was present since birth. The clinical diagnosis of congenital granular cell tumour (congenital epulis) or dental lamina cyst of the newborn was made. A conservative excisional biopsy was performed under local anaesthesia, and the specimen was submitted to histopathological examination. Results. The microscopic examination revealed a pattern of POF (WHO type). Normal primary incisors teeth eruption, and no signs of recurrence were noted on 16 months follow-up. Conclusion. Despite the rarity of POF in a newborn, this lesion should be included as a possible diagnosis to focal gingival growth.

The objective of this study is to evaluate the oral health services in the city of Grão Mogol, Brazil by analyzing the users perceptions. It was chosen the qualitative methodology using a semi-structured interview. The aspects investigated included the perception of the process of oral health/illness; knowledge, practices and value attributed to oral health; access to services; professional/patient relationship and assistance received. The interviews were analyzed and the central ideas extracted, which were considered in a final analysis of the study. It was observed that the oral health service in this city is going through a period of changes, but it still exist an iatrogenic-mutilator practice. However, health prevention and promotion gains space within health actions, acting as important factors to enhance oral health assistance and resulting improvement of the population quality of life. Users can feel the evolution of the service, but admit the necessity of more organization and definition on the access to services as well as an improvement on the communication professional/patient. The population starts to value the oral health as something important within the life conditions of each individual.

Background/Aim: Hereditary gingival fibromatosis (HGF) fibroblasts are characterized by an increased production of collagen and transforming growth factor-β1 (TGF-β1), resulting in a fibrotic enlargement of the gingiva of affected patients. A common feature of interstitial fibrosis is the occurrence of myofibroblasts, which are regarded as the predominant cells in matrix synthesis. The goal of this article is to describe the presence of myofibroblasts in HGF in order to elucidate the mechanisms underlying HGF gingival overgrowth. Materials and Methods: Fibroblast cell lines and gingival samples from patients of two distinct families affected by HGF and from normal gingiva (NG) were included in this study. To characterize the presence of myofibroblasts, the expression of specific myofibroblast marker smooth muscle isoform of α-actin (α-SMA) was examined by semi-quantitative reverse transcriptase-polymerase chain reaction (RT-PCR), Western blot, immunofluorescence, and flow cytometric analysis. Immunohistochemistry against the α-SMA antigen was performed in the gingival tissue samples. Results: Our results demonstrated a significant increase in the expression of the myofibroblast marker α-SMA in cells from one HGF family (designed as HGF Family 2), which are also characterized by an elevated expression of type I collagen, TGF-β1 and connective tissue growth factor (CTGF). Additionally, α-SMA-positive cells were broadly detected in the gingival tissue samples from HGF Family 2 patients. In contrast, α-SMA expression by HGF Family 1 cells was quite similar to NG cells and no myofibroblasts were detected immunohistochemically, despite the higher levels of TGF-β1 and type I collagen in HGF Family 1 fibroblasts than in NG cells. The expression of CTGF, which has been considered a key molecule to promote the transdifferentiation of myofibroblasts via TGF-β1 activation, by HGF Family 1 cultures was significantly lower compared with HGF Family 2 and similar to NG control cells. Conclusions: Our results suggest that the presence of myofibroblasts in HGF could be dependent on CTFG expression levels, and different biological mechanisms may account for the gingival overgrowth observed in HGF patients. This could be an underlying reason for the high variable clinical expressivity of disease.

Hereditary gingival fibromatosis (HGF) is an uncommon condition characterized by an accumulation of extracellular matrix resulting in a fibrotic enlargement of the gingiva. The goal of this article is to describe one kindred affected with HGF and discuss the diagnosis, treatment, and control of the disease. The pattern of inheritance, histopathologic characteristics, and proliferative potential of epithelial and mesenchymal cells of HGF are also emphasized.To characterize the pattern of inheritance and the clinical appearance of gingival overgrowth, 117 family members were examined. The recurrence risk was estimated by the use of a genetic analysis program. Immunohistochemistry against the proliferating cell nuclear antigen (PCNA) and pKi-67 was performed to assess cellular proliferation of normal gingiva (NG) and HGF cells.Examination of the family pedigree demonstrated an autosomal dominant trait of inheritance, and a sibling recurrence risk of 0.085 and an offspring recurrence risk of 0.078, indicating that HGF was a consequence of genetic alteration with low penetrance. Unaffected and affected members transmitted the disease to their offspring. The affected patients showed a generalized but mild gingival overgrowth. Surgical treatment consisted of a combination of gingivectomy and gingivoplasty. Histologic examination showed that the gingival lesions of all patients were quite similar, with increased amounts of collagen fiber bundles in the connective tissue. Immunohistochemistry revealed that the proliferative potential of epithelial cells was significantly higher in the HGF group compared to the NG group, whereas mesenchymal cells from both groups were negative for the proliferative markers.Our data demonstrated that, in the studied family, HGF is transmitted by an autosomal dominant pattern with incomplete disease penetrance, and although the gingival enlargement resulted from an excessive accumulation of collagen fibers, HGF is characterized by an increase in the proliferation rate of epithelial cells.

Background: Cyclosporin A (CsA) is a widely used immunosuppressant that causes significant side effects including gingival overgrowth. The pathogenesis of this condition is not fully understood; however, recent studies show that CsA regulates the transcription of several cytokines including transforming growth factor-beta 1 (TGF-β1). In this study, we evaluated the effects of CsA and TGF-β1 on human normal gingival (NG) fibroblast proliferation, and explored a possible autocrine stimulation of TGF-β1 as a cellular regulator of proliferation induced by CsA in NG fibroblasts. Methods: NG fibroblast cell lines were incubated with increasing concentrations of CsA or TGF-β1 and the proliferation index determined by automatic cell counting, BrdU incorporation, PCNA expression, and mitotic potential. To determine the effect of TGF-β1 on the proliferation rate of NG fibroblasts under CsA treatment, NG fibroblast cultures were simultaneously treated with CsA and antisense oligonucleotides against the translation-start site of the TGF-β1 mRNA. Results: Treatment of NG fibroblasts with CsA or TGF-β1 significantly stimulated the cell proliferation in a dose-dependent manner. Furthermore, neutralization of TGF-β1 production in CsA-treated NG fibroblasts inhibited CsA’s effect on NG fibroblast proliferation, demonstrating an autocrine stimulatory effect of TGF-β1 in CsA-treated NG fibroblast proliferation. Conclusion: The results presented here suggest that CsA stimulatory induction of NG fibroblast proliferation is mediated via TGF-β1 in an autocrine fashion. J Periodontol 2003;74:1625-1633.

The objective of this study was to compare fibroblasts from the periodontal ligament (PLF) and gingival fibroblasts (GF) as to morphology, proliferation rate and protein synthesis. PLF and GF were explanted from tissues of the same patient. To characterize and compare the morphology of cells, PLF and GF were plated and analyzed under phase-contrast and optical microscopies. Proliferation rates were determined by means of automated counts carried out in days 1, 4, 7, 15 and 21, and also by means of the bromodeoxyuridine labelling index (BrdU). Total protein content was analyzed by means of electrophoresis in 10% polyacrylamide gel and zimography containing gelatin as substrate. PLF were bigger and more elongated than GF in subconfluence and confluence conditions. The proliferative rate of PLF was higher than that of GF at 1, 4, and 7 days (p0.05). At 15 and 21 days, there was no statistically significant difference as to the number of cells. PLF presented a significantly greater proliferative potential, in relation to GF (p0.05). The synthesis of protein in a period of 24 hours was similar for both PLF and GF. Our results demonstrated that PLF and GF are different as to morphology and proliferative capacity, however, they do not differ as to protein synthesis.

Gingival overgrowth is a common side effect following the administration of cyclosporin A (CsA). The pathogenesis of this condition is not fully understood; however, recent studies show that CsA regulates the transcription of several cytokines including transforming growth factor-beta1 (TGF-beta1). The aim of this study was to investigate the potential role of TGF-beta1 in the pathogenesis of CsA-induced gingival overgrowth, exploring a possible autocrine stimulation of TGF-beta1 as a cellular regulator of synthesis of matrix metalloproteinases (MMPs) and its tissue inhibitors (TIMPs).Gingival fibroblasts from human normal gingiva were incubated with increasing concentrations of CsA, cultured for 24 hours, and the expression and production of TGF-beta1 determined by semiquantitative reverse transcriptase-polymerase chain reaction (RT-PCR) and enzyme-linked immunosorbent assay (ELISA), respectively. MMP and TIMP mRNA expression levels were also analyzed by RT-PCR. To determine the effect of TGF-beta1 on the expression of MMP and TIMP by human gingival fibroblasts under CsA treatment, human gingival fibroblast cultures were treated with sense oligonucleotides (SON) or antisense oligonucleotides (AON).CsA simultaneously stimulated TGF-beta1 expression and production and inhibited expression of MMP-1 and MMP-2 by human gingival fibroblasts, whereas CsA has a slight effect on TIMP-1 and TIMP-2 expression. AON reduced TGF-beta1 production as demonstrated by ELISA, whereas TGF-beta1 mRNA expression levels were not significantly modified. The inhibition of TGF-beta1 production by AON modulated MMP expression, demonstrating the autocrine inhibitory effect of TGF-beta1 in CsA-treated human gingival fibroblasts.The data presented here suggest that TGF-beta1 in an autocrine fashion may contribute to a reduction of proteolytic activity of human gingival fibroblasts in CsA-induced gingival overgrowth, which favors the accumulation of extracellular matrix.

Van der Woude Syndrome (VWS) is an autosomal craniofacial disorder characterized by lower lip pits and cleft lip and/or palate. Mutations in the interferon regulatory factor 6 (IRF6) gene have been identified in patients with VWS. To identify novel IRF6 mutations in patients affected by VWS, we screened 2 Brazilian families, sequencing the entire IRF6-coding region and flanking intronic boundaries. Two novel heterozygous mutations were identified: a frame shift mutation with deletion of G at the nucleotide position 520 in the exon 6 (520delG), and a missense single nucleotide substitution from T to A at nucleotide position 1135 in exon 8 (T1135A). By using restriction enzyme analysis, we were able to demonstrate the lack of similar mutations in unrelated healthy individuals and non-syndromic cleft lip and palate patients. Our results further confirmed that haploinsufficiency of the IRF6 gene results in VWS.

OBJETIVO: Descrever as características clínicas e imaginológicas de duas famílias com a síndrome de Waardenburg, sendo uma do tipo I e outra do tipo II, enfatizando as manifestações oftalmológicas, bem como o padrão de herança genética. MÉTODO: Realizou-se um estudo clínico envolvendo as duas famílias afetadas pela síndrome de Waardenburg, sendo, através dos heredogramas, determinado o padrão de herança genética presente. Também foram realizadas análises oftalmológicas abordando a medida da acuidade visual, a presença de distopia cantorum (telecanto), a avaliação da coloração da íris e o mapeamento de retina, além de exames otológicos e dermatológicos. RESULTADOS: O heredograma da família afetada pela síndrome de Waardenburg tipo I revelou um modo autossômico dominante de transmissão. A condição estava presente em 85,71% dos pacientes. A distopia cantorum foi a alteração mais frequente, seguida pela mecha branca na pele da fronte, hipopigmentação da íris e da retina e surdez neurossensorial. A família com síndrome de Waardenburg tipo II apresentou 33,33% dos familiares com a alteração. Nenhum membro apresentou distopia cantorum e hipopigmentação de íris. Três pacientes apresentaram surdez neurossensorial (12,5%), associada ao topete branco e manchas acrômicas confluentes pelo corpo. CONCLUSÃO: O presente estudo mostra a importância do oftalmologista no auxílio do diagnóstico desta rara condição genética, uma vez que inclui alterações oftalmológicas como telecanto, hipopigmentação da íris e retina. A distopia cantorum é o principal critério diagnóstico para diferenciar o tipo I do II e deve ser feita por oftalmologista treinado. As famílias encontram-se em acompanhamento multiprofissional, tendo recebido orientações genéticas e os cuidados referentes à proteção ocular.

Fibromatose gengival hereditária (FGH) é uma condição bucal rara clinicamente manifestada por um aumento gengival generalizado e fibrótico, podendo apresentar-se de forma isolada ou associada a outras alterações, como parte de síndromes. Os mecanismos biológicos envolvidos na FGH são desconhecidos, e os resultados de estudos de cultura celulares são controversos. Para elucidar as características fenotípicas dos fibroblastos de FGH, nós isolamos quatro linhagens celulares de fibroblastos de FGH de indivíduos de uma mesma família e comparamos as características morfológicas e proliferativas com fibroblastos provenientes de pacientes com gengiva clinicamente normal (GN). Fibroblastos de GN e FGH em condições de subconfluência celular apresentaram típicas características morfológicas, como formato fusiforme, núcleo central e longos prolongamentos citoplasmáticos, mas em condições de saturação da densidade celular, os fibroblastos de FGH apresentaram dimensões menores que as células controle. A relação núcleo/citoplasma foi sempre menor para todas as linhagens celulares de fibroblastos de FGH, sugerindo que a redução celular, é proveniente de uma redução ou compactação citoplasmática e não nuclear. A capacidade proliferativa de fibroblastos de FGH foi maior que a de fibroblastos de GN. Estes resultados sugerem que diferenças morfológicas e proliferativas dos fibroblastos de FGH podem estar associadas aos eventos biológicos envolvidos na etiopatogenia do aumento gengival observado em pacientes com FGH.