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O objetivo do trabalho foi avaliar (através de estudo descritivo, quantitativo e transversal) a prestação de serviços de manutenção predial em Unidades de Saúde, considerando os cinco tipos de Estabelecimentos (Unidade Básica de Saúde, Unidade de Pronto Atendimento, Especialidade, Hospitalar e Saúde Mental). A pesquisa foi aprovada no CEP da FHEMIG com o Termo de Concordância junto ao SUS Betim. Foi realizada a análise comparativa através da verificação de requisitos da "Gestão da Estrutura Físico-Funcional", do "Manual Brasileiro de Acreditação Hospitalar" da ONA. Foram constatadas inconformidades na gestão físico-funcional dos EAS, especialmente das UBS. Importante essa avaliação, considerando que o cumprimento dos requisitos formais, técnicos e de estrutura, as atividades assistenciais, de acordo com a organização do serviço e adequadas ao perfil e à complexidade, podem colaborar para minimizar os riscos dos usuários. Para a melhoria da qualidade assistencial dos estabelecimentos, é imprescindível que os gestores, com o respaldo da "alta direção", priorizem, nos planejamentos, os recursos financeiros, humanos e materiais a fim de garantir o cumprimento das exigências da segurança dos usuários nos edifícios.The scope of this paper was to evaluate the provision of building maintenance services in health units, by means of a descriptive, quantitative and cross-sectional study, considering the five types of facilities (Primary Health, Emergency, Specialty, Hospital and Mental Health Units). The research was approved by the Research Ethics Comittee of FHEMIG with the Terms of Agreement signed with the Unified Health System of Betim. Comparative analysis was conducted by checking the requirements of "Physical-Functional Structure Management" of the "Brazilian Hospital Accreditation Manual" of the National Accreditation Organization. Nonconformities were noted in the physical-functional management of the health centers, especially the primary health units. The assessment was important, considering that compliance with formal, technical and structural requirements, welfare activities, according to the service organization and appropriate to the profile and complexity, can collaborate to minimize the risks of users. To improve the quality of health care establishments, it is essential that managers, backed by "top management," prioritize financial, human and material resources in planning to ensure compliance with security requirements of users in buildings.

CONTEXTO: Diversos estudos analisaram a produção científica de pesquisadores do Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) em diversas áreas do conhecimento. No entanto, dados específicos sobre os principais pesquisadores brasileiros em Neurociências são escassos. OBJETIVO: Avaliar a produção científica de pesquisadores no campo das Neurociências que recebem bolsa de produtividade do CNPq. MÉTODOS: Os currículos lattes dos 58 investigadores com bolsa de produtividade nos anos de 2006 a 2008 foram incluídos na análise. As variáveis de interesse foram: gênero, afiliação, formação de recursos humanos e produção científica. As categorias e os níveis das bolsas de produtividade foram classificados de acordo com o banco de dados do CNPq. RESULTADOS: Houve predominância de bolsas do nível 1 (55,2%). Os investigadores publicaram 6.526 artigos (mediana de 90). Destes, 61 foram cadastrados no banco de dados do ISI. Não houve diferença significativa entre as categorias quanto ao número de artigos (P = 0,12). A mediana do índice-h foi de 10,5 e a mediana do índice-m foi 0,77. Não houve diferença significativa do índice-m entre as categorias (P = 0,28). CONCLUSÃO: Estratégias para melhorar qualitativamente a produção científica possivelmente podem ser reforçadas com o conhecimento do perfil dos pesquisadores no campo da Neurociência Clínica.BACKGROUND: Several studies have examined the scientific production of National Counsel of Technological and Scientific Development (CNPq) researchers in various areas of knowledge. However, specific data about the main Brazilian researchers in Neurosciences are scarce. OBJECTIVE: Evaluate the scientific production of researchers in the field of Neurosciences who receives productivity grant from the CNPq. METHODS: The Lattes Curriculum of 58 researchers with active grants in the years from 2006 to 2008 were included in the analysis. The variables of interest were: gender, affiliation, human resources training, and scientific production. Grants categories/levels were classified according to CNPq database. RESULTS: There was predominance of grants level 1 (55.2%). Researchers published 6,526 articles (median of 90). Of these, 61% were indexed in the ISI database. There was no significant difference between the categories regarding the number of articles (P = 0.12). The median h-index was 10.5 and the median m-index was 0.77. There was no significant difference in m-index between the categories (P = 0.28). DISCUSSION: Strategies to qualitatively improve the scientific output possibly can be enhanced by the knowledge of the profile of researchers in the field of Neurosciences.

Objective The aim of this study was to radiographically investigate the prevalence of dental anomalies outside the cleft area in a group of Brazilian patients with nonsyndromic cleft lip and/or palate (NSCL/P). Design, Participants, and Setting A retrospective analysis of 207 panoramic radiographs of patients with NSCL/P aged 12 to 45 years without history of tooth extraction and orthodontic treatment was performed. Results Dental anomalies were found in 75.4% of the patients, and tooth agenesis (29.2%) and supernumerary tooth (2.6%) were the most common anomalies. The risk of agenesis was higher among the individuals with cleft palate (CP) compared with individuals with cleft lip (CL) and cleft lip and palate (CLP) (agenesis: CP versus CL: odds ratio 6.27, 95% confidence interval 2.21-17.8, P = .0003; CP versus CLP: odds ratio 2.94; 95% confidence interval 1.27-6.81, P = .01). The frequency of dental agenesis was higher in patients with unilateral complete CLP (agenesis: P < .0001), incomplete bilateral CLP (agenesis: P = .0013), complete CP (agenesis: P < .0001), and incomplete CP (agenesis: P < .0001). The frequency of supernumerary teeth was higher in patients with bilateral complete CLP ( P < .0001). The frequency of dental agenesis ( P < .0001) and ectopic tooth ( P = .009) was higher than the frequency estimated for general population. Conclusions The prevalence of dental anomalies in patients with NSCL/P was higher than that reported in overall population. This study found preferential associations between dental anomalies and specific extensions of NSCL/P, suggesting that dental agenesis and ectopic tooth may be part of oral cleft subphenotypes.

Purpose: Digit ratio (2D:4D) has been considered as a proxy biomarker for prenatal hormonal exposure and may represent an individual’s predisposition to breast cancer. The purpose of the present study is to investigate whether there is a link between digit ratio and breast cancer in a Brazilian population.Methods: Digital measurements of the lengths of the index and ring fingers of both hands were obtained from women with breast cancer (n = 100) and age-matched controls (n = 100) using a digital Vernier calliper. Mean digit ratios of right hands, left hands, and right minus left hand 2D:4D (DR-L) were compared between both groups. Data were analysed by the Student's t-test for unpaired samples, Mann-Whitney test, and Spearman`s correlation with a significance level of 5%.Results: The patients with breast cancer presented significantly higher right and left 2D:4D (both p < 0.001) and higher DR-L (p = 0.032) than controls. Among breast cancer cases, there was a significantly negative correlation between left 2D:4D and age diagnosed with breast cancer (p = 0.018).Conclusion: Digit ratio offers a valid retrospective biomarker of action of prenatal hormones and might be associated with breast cancer risk and age at onset of breast cancer. It suggests that higher exposure or sensitivity to prenatal oestrogen might be associated with a higher risk of breast cancer and with earlier onset of the disease.

Objectives Digit ratio (2D:4D) has been considered to be a marker in studies evaluating an individual's susceptibility to diseases, especially those diseases that show sex differences in their occurrence. We aimed to assess whether 2D:4D ratios are associated with nonsyndromic cleft lip and/or palate (NSCL/P) and verify the existence of a specific pattern of 2D:4D ratio in individuals affected by orofacial clefts. Design This was a case-control study. Methods Digital measurements of index and ring finger lengths of both hands of patients with NSCL/P (n =54) and age- and gender-matched controls (n = 54) were obtained using a digital vernier caliper. Mean ratios between the second and fourth digits were compared. Data were analyzed by Student's t test and Mann-Whitney test with a significance level of 5%. Results No significant difference was found between the mean digit ratios of the right and left hands between the groups for any analysis ( P > .05), neither for the whole sample nor for the distributions by type of cleft and by gender. Conclusions Although the development of the fingers and the occurrence of NSCL/P can be regulated by the actions of similar genes, our results are not consistent with an association between 2D:4D ratio and this craniofacial deformity. This suggests that intrauterine exposure to fetal androgens, assessed using this marker, is similar between patients with NSCL/P and healthy individuals. We highlight the need for further studies in populations with different ancestries.

The current study aimed to analyze through a literature review evidence of association between ocular changes and non-syndromic cleft lip and/or palate (NSCL/P). A literature review was carried out in accordance with the Cochrane Collaboration Group protocol. PubMed, Scopus, Academic Google and ISI Web of Science databases were systematically searched. A total of 16 studies were accessed, and three made up the final sample.All three studied ocular abnormalities in patients with NSCL/P.The articles found ocular abnormalities in 6.21%, 17.54% and 1.03% of patients respectively.The presence of ocular abnormalities in patients with NSCL/P was significant in this systematic review, but the articles all agreed that future studies should explore the possibility of a greater occurrence of ocular changes in individuals with NSCL/P.

Background/Aims: Amelogenesis imperfecta (AI) is due to many inherited defects of enamel formation that affect the quantity and quality of enamel, leading to delay in tooth eruption and cosmetic consequences. AI has been described in association with nephrocalcinosis, which is called the enamel-renal syndrome. The aim of this case report is to describe typical features of AI in 2 patients with Bartter’s syndrome (BS) for the first time. Methods: -Eight patients with confirmed BS were systematically screened for dental abnormalities as part of protocol. Those with suggestive clinical features of AI were submitted to panoramic X-ray and decayed teeth were analyzed by scanning electron microscopy. Results: Typical features of AI were detected in 2 girls with BS. These 2 patients showed nephrocalcinosis, and diagnosis and adequate clinical control were delayed. Genetic analysis detected the mutation responsible for BS in 1 of these patients. In this case, BS was due to a homozygous mutation of exon 5 of the KCNJ1 gene resulting in a substitution of valine for alanine at the codon 214 (A214V). Conclusions: The finding of typical features of AI in BS might constitute preliminary evidence that abnormalities of the biomineralization process found in patients with renal tubular disorders might also affect calcium deposition in dental tissues.

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.PURPOSE: To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. METHODS: We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses were performed including the measurement of visual acuity, the presence of dystopia cantorum (telecanthus), evaluation of iris color and retinal mapping, as well as dermatological and otological examinations. RESULTS: The pedigree of the family affected by the Waardenburg syndrome type I showed an autosomal dominant mode of transmission. The syndrome was present at 85.71% of patients. The dystopia cantorum was the most frequent feature, followed by the white streak on the skin of the forehead, hypopigmentation of the iris and retina and deafness. The Waardenburg syndrome family type II had 33.33% of family members affected by the syndrome. No member had dystopia cantorum and hypopigmentation of the iris. Three patients had sensorineural hearing loss (12.5%), associated with white forelock and achromatic spots confluent by the body. CONCLUSION: This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as telecanthus, hypopigmentation of the iris and retina. The cantorum dystopia is the main diagnostic criterion to differentiate type I and II syndrome and should be done by a trained ophthalmologist. The families are in medical monitoring, receiving genetic guidelines and care related to eye protection.

Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene. The aim of this case report was to describe a family with XLHED with emphasis on differences in orofacial features between members. Family members were systematically evaluated to characterize the pattern of inheritance and clinical features. Dental examination included evaluation of agenesis and abnormal teeth structure. The pedigree of the last seven generations of the family was constructed. Clinical examination and medical history revealed five males affected by HED and nine female as heterozygous carriers. The males exhibited the classic phenotype of XLHED, with dental abnormalities, hypohydrosis, and craniofacial dysmorphologies. The heterozygous carriers of the X-linked gene defect principally exhibited dental agenesis of the lateral maxillary incisors. Careful clinical examination, including dental evaluation, is an important way to detect heterozygous carriers of X-linked HED. Heterozygous parents of patients with HED may also show some features of the disorder. The identification of female carriers results in genetic counseling being offered to affected families, as well as providing adequate treatment as necessary and long-term follow-up of these patients.

Oral Diseases (2012) 18, 184–190 Background: Cleidocranial dysplasia (CCD) is a dominantly inherited autosomal disease characterized by typical bone defects including short stature, persistently open or delayed closure of the cranial sutures, and hypoplastic or aplastic clavicles. Oral features are frequent and include supernumerary teeth, delayed eruption or impaction of the permanent teeth, and malocclusion. Heterozygous mutations in RUNX2 gene, which encodes a transcription factor essential for osteoblast differentiation, were identified as the etiological cause of CCD. Objective and Methods: Herein, we performed physical and radiographic examination and screening for RUNX2 mutations in 11 patients from five families with CCD. Results: All patients demonstrated the classical phenotypes related to CCD. Families whose affected members had several dental alterations such as multiple impacted and supernumerary teeth demonstrated heterozygous missense mutations (R190Q and R225Q) that impair the runt domain of RUNX2. On the other hand, CCD patients from families with low frequency of dental abnormalities showed no mutation in RUNX2 or mutation outside of the runt domain (Q292fs→X299). Conclusion: The current findings suggest a correlation between dental alterations and mutations in the runt domain of RUNX2 in CCD patients. Further clinical and genetic studies are needed to clarify the relationship between phenotypes and genotypes in CCD and to identify other factors that might influence the clinical features of this uncommon disease.

O consumo de álcool entre estudantes de Medicina se tornou assunto de grande interesse devido à alta repercussão desta prática e à importante influência da bebida alcoólica em seu dia a dia. O objetivo des-Alcoólicas te estudo foi avaliar a prevalência do consumo de álcool em acadêmicos de duas faculdades de Medicina do Estado de Minas Gerais e enquadrá-los na estratificação de risco do Audit. O estudo, transversal e descritivo, foi realizado de março a novembro de 2009 com estudantes do primeiro ao oitavo período dos cursos de Medicina de duas faculdades, sendo uma instituição privada e uma pública. Concluiu-se que 87,7% dos estudantes se dedicam exclusivamente ao curso e que mais de 60% fizeram uso de bebidas alcoólicas nos últimos 12 meses. Descobriu-se também que cerca de 25% dos acadêmicos avaliados necessitam buscar programas de educação e atuação para prevenir danos ocorridos devido ao uso de bebidas alcoólicas Alcohol use by medical students has attracted attention due to its repercussions and the major impact on students'daily practice. The aim of this study was to assess the prevalence of alcohol use by students at two medical schools in the State of Minas Gerais, Brazil, and to stratify them according to the Audit scale. The cross-sectional descriptive study was conducted from March to November 2009 with first to fourth year medical students from the two schools, one private and one public (government). Based on the findings, 87.7% of the students were studying fulltime and 60% had consumed alcoholic beverages in the previous 12 months. In addition, some 25% of these students demonstrated the need for educational programs and interventions to prevent the harm resulting from the use of alcoholic beverages.

FUNDAMENTO: Avaliações sistemáticas da pesquisa científica podem otimizar alocações de recursos financeiros e aumentar a produtividade em pesquisa no Brasil. OBJETIVO: O objetivo deste estudo foi avaliar o perfil e a produção científica de pesquisadores na área de Cardiologia, que possuem bolsas de produtividade científica em Medicina fornecida pelo Conselho Nacional de Desenvolvimento Científico e Tecnológico. MÉTODOS: O currículo Lattes de 33 pesquisadores com bolsas ativas no triênio 2006 a 2008 foram incluídos na análise. As variáveis de interesse foram: sexo, instituição, tempo de doutoramento, orientação de alunos de graduação, mestres e doutores, artigos publicados e seu impacto. RESULTADOS: Houve uma predominância do gênero masculino (74,4%) e de bolsistas na categoria 2 (57,6%). Quatro instituições foram responsáveis por 70,0% dos pesquisadores: USP (13; 39,4%), UNESP (5; 15,2%), UFRGS (4; 12,1%) e UNIFESP (3; 9,1%). No total da carreira acadêmica, os pesquisadores em Cardiologia publicaram 2.958 artigos em periódicos, sendo a média de 89 artigos por pesquisador. Desse total, 55,0% e 75,0% foram artigos indexados nas bases de dados Web of Science e Scopus, respectivamente. Os pesquisadores receberam um total de 19.648 citações na base de dados Web of Science, sendo a mediana por pesquisador de 330 citações. A média de citações por artigo foi de 13,5 citações (DP = 11,6). CONCLUSÃO: Nosso estudo mostrou que os pesquisadores na área de Cardiologia apresentam uma produção científica relevante. O conhecimento do perfil dos pesquisadores da área de Cardiologia possivelmente permitirá estratégias efetivas para incentivar a produção científica dos pesquisadores brasileiros. BACKGROUND: Systematic assessments of the scientific production can optimize resource allocation and increase research productivity in Brazil. OBJECTIVE: The aim of this study was to evaluate the profile and scientific production of researchers in the field of Cardiology who have fellowship in Medicine provided by the Conselho Nacional de Desenvolvimento Científico e Tecnológico. METHODS: The curriculum Lattes of 33 researchers with active fellowships from 2006 to 2008 were included in the analysis. The variables of interest were: gender, affiliation, tutoring of undergraduate, masters and PhD students, and scientific production and its impact. RESULTS: : There was predominance of males (72.7%) and of fellowship level 2 (56.4%). Three states of the Federation were responsible for 94% of the researchers: SP (28; 71.8%), RS (4; 10.3%), e RJ (3; 9.1%). Four institutions are responsible for about 82% of researchers: USP (13; 39.4%), UNESP (5; 15.2%), UFRGS (4; 12.1%) e UNIFESP (3; 9.1%). During all academic careers, the researchers published 2.958 journal articles, with a mean of 89 articles per researcher. Of total, 55% and 75% were indexed at Web of Science and Scopus databases, respectively. The researchers received a total of 19648 citations at the database Web of Science, with a median of 330 citations per researcher (IQ = 198-706). The average number of citations per article was 13.5 citations (SD = 11.6). CONCLUSION: Our study has shown that researchers in the field of cardiology have a relevant scientific production. The knowledge of the profile of researchers in the field of Cardiology will probably enable effective strategies to qualitatively improve the scientific output of Brazilian researchers.

International Journal of Paediatric Dentistry 2011; 21: 314–320 Background. Adhesive procedures are often required to restore teeth affected by hypocalcified amelogenesis imperfecta (HAI). Aim. To evaluate the hardness of enamel/dentin of teeth affected by HAI and the bond strength to these substrates, as well the influence of 5% NaOCl on bond strength. Design. Permanent molars presenting HAI and sound third molars were used. Enamel surfaces were wet-flattened and Knoop hardness was assessed. The two-step, etch-and-rinse adhesive Single Bond 2 (3M ESPE) was applied and resin cylinders bonded to the surfaces and submitted to microshear testing. The subjacent medium dentin was then exposed by wet-grinding. Hardness readings and microshear testing were carried out again. The relationship between hardness and bond strength was assessed by nonlinear regression analysis. Results. Hardness of normal enamel was higher than hardness of enamel affected by HAI, whereas dentin hardness did not differ from normal to HAI-affected teeth. Enamel and dentin hardness were similar for teeth affected by HAI. Higher bond strengths were obtained to the normal tooth tissues. Dentin bond strength was higher than enamel bond strength. NaOCl exposure did not influence bond strengths. A positive linear relationship between enamel hardness and bond strength was observed. Conclusion. HAI imposes challenges to bonding to enamel and dentin.

Fissuras do lábio e/ou palato (FL/P) representam as anomalias congênitas mais comuns da face e em 70% dos indivíduos, as fissuras lábio-palatinas ocorrem de forma não-sindrômica (FL/PNS). OBJETIVO: Descrever casos clínicos de FL/PNS associadas com consanguinidade e correlacionar tais alterações com possíveis fatores de risco. CASUÍSTICA E MÉTODOS: Realizou-se estudo retrospectivo, em um Serviço de referência para deformidades craniofaciais em Minas Gerais, Brasil, entre os anos de 2006-2009, a partir de prontuários clínicos. RESULTADOS: Entre 246 casos de FL/PNS diagnosticadas e assistidas no Serviço, 15 (6,1%) foram de FL/PNS com relato de consanguinidade em primeiro grau e 73,3% ocorreram no gênero masculino. Verificou-se que dos 15 pacientes, 4 pacientes apresentavam fissura lábio palatina (FLP) completa unilateral direita, 4 FLP bilateral completa, 3 FLP completa unilateral esquerda, 3 fissura palatina isolada e 1 fissura labial isolada. Dos fatores de risco avaliados, somente três mães relataram história de tabagismo durante a gestação. CONCLUSÕES: As FLP (unilateral ou bilateral) foram mais frequentes nesse grupo com histórico de consanguinidade em primeiro grau e o gênero masculino foi predominante. Entre os fatores de risco, apenas o tabagismo foi observado em três casos clínicos. 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. AIM: 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. RESULTS: 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. CONCLUSIONS: 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.

Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. This paper describes the clinicopathological features of a patient who was born of consanguineous parents and who presented with oral alterations, including yellow and misshapen teeth, intrapulpal calcifications, delayed tooth eruption, and gum enlargement. Scanning electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome. Since nephrocalcinosis is often asymptomatic and can be associated with impaired renal function, dentists who see children with generalized and thin hypoplastic AI should consider a renal ultrasound scan and referral to a nephrologist, if appropriate. Children with nephrocalcinosis should also be considered for a dental check.

Internação domiciliar é uma modalidade de atendimento à saúde que está se transformando em uma alternativa importante para minimizar alguns dos principais problemas inerentes aos sistemas de saúde vigentes, especialmente os da rede pública. O objetivo do estudo foi descrever o perfil sociodemográfico e clínico da população assistida pelo Programa de Internação Domiciliar (PID) HU em Casa do Hospital Universitário Clemente de Faria da Universidade Estadual de Montes Claros. O estudo foi descritivo e retrospectivo por meio da análise de prontuários, realizada de maio de 2005 a maio de 2008. Foram analisados 137 pacientes, sendo 75 do gênero feminino (54,7%) e 62 do masculino (45,3%). O grupo de 61 a 80 anos foi mais prevalente (37,2%) e 73% dos pacientes residiam em bairros periféricos do município de Montes Claros-MG. Dos agravos mais comuns na primeira internação, a pneumonia foi prevalente, 22 casos (16,1%). A maioria dos pacientes foi encaminhada ao PID pela clinica médica (84,7%), com intervalo de maior prevalência de duas a três internações (42,4%). Do total de pacientes, 120 (87,6%) permaneceram internados por 16 a 30 dias e 51,8% não necessitaram passar novamente pelo PID para uma segunda internação. Com relação à resolutividade clínica, 130 (94,9%) tiveram alta clínica, no PID, na primeira internação. O PID mostrou-se ser um programa de alta resolutividade, atendendo mais ao público idoso feminino, de baixa renda e com períodos de internação relativamente curtos.The home care is a modality of health care which is becoming an important alternative to minimize some of mainly relevant problems of world health, especially the public health network. This paper aimed to describe the socio-demographic and clinical population assisted by the Home Care Program HU em Casa, of the University Hospital Clemente de Faria, Universidade Estadual de Montes Claros. It is a descriptive and retrospective study analyzing medical records from May 2005 to May 2008. Of the 137 analyzed patients, 75 were females (54.7%) and 62 males (45.3%). Concerning age, the 61-80 year group was the most prevalent (37.2%) and 73% lived and was attended in the peripheral districts of Montes Claros city. Among the most important diseases in the first admission, the most prevalent was pneumonia (22 cases, 16.1%). Most patients were referred to the HU em Casa Home Care Program for the medical clinic (84.7%) with a range of higher prevalence of 2 to 3 admissions (42.4%). Of the total patients, 120 (87.6%) stayed in hospital for 16 to 30 days. Referring to resolutivity, 130 (94.9%) patients were discharged to the program on the first admission. The PID proved to be a high-solving program, attended mainly elderly women with low income and with periods of relatively short hospitalization.

INTRODUCTION: Gingiva fibromatosis is a relatively rare condition characterized by diffuse enlargement of the gingiva, which is caused by expansion and accumulation of the connective tissue. OBJECTIVE: The aim of the present study was to investigate proliferative and apoptotic biomarker expression in normal gingiva and two forms of gingival fibromatosis. METHODS: Archived tissue specimens of hereditary gingival fibromatosis, gingival fibromatosis and dental abnormality syndrome and normal gingiva were subject to morphological analysis and immunohistochemical staining. The results were analyzed statistically. RESULTS: Proteins associated with proliferation were found in the nuclei of epithelial cells from the basal and suprabasal layers, whereas apoptotic proteins were detected in the cytoplasm of the upper layers of the epithelium. Increased expressions of minichromosome maintenance proteins 2 and 5 were observed in the gingival fibromatosis and dental abnormality syndrome samples. In contrast, geminin expression was higher in normal gingiva samples. No difference in the expression of apoptotic proteins was observed among the groups. CONCLUSION: Our findings support a role for augmented proliferation of epithelial cells within the overgrown tissues associated with gingival fibromatosis or dental abnormality syndrome. However, our data suggest that different biological mechanisms may account for the pathogenesis of different types of gingival fibromatosis.

OBJECTIVES: Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS: The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented. RESULTS: All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients. CONCLUSION: Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.

BACKGROUND Polymorphisms in genes that are involved in folic acid metabolism may be important maternal risk factors for the birth of a child with nonsyndromic cleft lip and/or palate (NSCL/P). The aim of this study was to determine the involvement of polymorphic variants in four genes (MTHFR,MTHFD1,MTR, and SLC19A1) that encode proteins related to folic acid metabolism in the women with susceptibility for having a child with NSCL/P. METHODS DNA samples from 106 mothers of children with NSCL/P (case group) and from 184 mothers of healthy children (control group) were genotyped by polymerase chain reaction associated with restriction fragment length polymorphism (PCR-RFLP). RESULTS One of 29 polymorphisms was associated with significantly increased maternal risk for NSCL/P. Mothers exhibiting the A variant allele (GA genotype) of the MTHFR rs2274976 polymorphism demonstrated a ∼6 times increased risk for having a child with NSCL/P compared to G allele carriers (OR, 5.76; 95% CI, 3.32–9.99, p = 0.000001). Among mothers who did not use vitamins, the OR of NSCL/P was increased to 8.34 (95% CI, 3.75–18.55, p = 0.000001) in the presence of the GA genotype of the MTHFR rs2274976 polymorphism compared to those with the GG genotype. Gene-gene interaction analysis showed that the combination of MTHFR rs2274976, MTHFD1 rs2236225, and SLC19A1 rs1051266 was the best model for prediction of maternal risk for NSCL/P. CONCLUSION The findings of the present study suggested that genetic variants of folic acid metabolic genes may modulate maternal susceptibility for having an offspring with NSCL/P. Birth Defects Research (Part A), 2010. © 2010 Wiley-Liss, Inc.

Esclerose tuberosa é uma condição rara e autossômica dominante. Miofibroblastos são células que exibem fenótipo híbrido entre fibroblastos e células musculares lisas. O objetivo deste caso clínico é mostrar as características clínicas e histopatológicas da esclerose tuberosa e avaliar miofibroblastos nos angiofibromas cutâneos dessa condição. Lesões removidas foram coradas em HE e tricrômico de Masson. Para determinar a presença de miofibroblastos foi usada imunoistoquímica para α-SMA. Essa reação mostrou-se negativa para miofibroblastos. Como α-SMA é um marcador específico para essas células, esse resultado sugere que miofibroblastos não estejam envolvidos com os angiofibromas da esclerose tuberosa descrita. 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 α-SMA was done to determine the presence of myofibroblasts, and the reaction was negative. Since α-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.

Fissuras do lábio e/ou palato (FL/P) representam as anomalias congênitas crânio-facial mais comuns. OBJETIVO: Avaliar as técnicas cirúrgicas correntes na reabilitação de FL/P em um Serviço de referência no Estado de Minas Gerais. MATERIAL E MÉTODOS: Realizou-se estudo retrospectivo, 2002 a 2007, avaliando 109 portadores de FL/P não sindrômicas que tiveram o tratamento concluído. As dimensões de análise (identificação pessoal, classificação das FL/P e tratamento cirúrgico realizado) foram obtidas a partir dos prontuários, sendo posteriormente construído banco de dados e as análises estatísticas realizadas pelo programa SPSS 13.0. Seguiu-se análise descritiva dos procedimentos cirúrgicos em função do tipo de FL/P encontrada. RESULTADOS: Entre os 109 pacientes, 65,1% foram do gênero masculino e 34,8% do feminino. Verificou-se que 45% dos pacientes apresentaram fissuras lábio-palatinas, 37,6% fissuras labiais e 17,4% fissuras palatinas. As técnicas correntes empregadas foram as de Millard e Spina para as queiloplastias, McComb para as rinoplastias e as de Veau e Van Langenbeeck para as palatoplastias. CONCLUSÃO: Este estudo é o primeiro a abordar reabilitação em FL/P em Minas Gerais. Nas FL/P unilaterais houve a associação das técnicas de McComb, Veau e Millard, respectivamente, para rinoplastia, palatoplastia e queiloplastia, em 76,9% dos pacientes. Cleft lip and palate (CL/P) are the most common congenital anomalies of the craniofacial region. AIM: to evaluate the surgical techniques used in CL/P treatment in a craniofacial deformities ward, in Minas Gerais. MATERIALS AND METHODS: In this retrospective study, carried out between 2002 and 2007, we studied 109 individuals with non-syndromic CL/P submitted to treatment. The aspects analyzed (personal identification, classification of CL/P and surgical treatment performed) were obtained from patient charts, and then we built a database and ran statistical analyses through the SPSS 13.0 software. Followed by descriptive analysis of the surgical procedures depending on the type of CL/P found. RESULTS: Among the 109 patients, 65.1% were males and 34.8% females. We found that 45% of patients had cleft lip and palate, 37.6% cleft lip only and 17.4% cleft palate only. The surgical techniques employed were predominantly those from Millard and Spina for cheiloplasty, McComb for rhinoplasty and, Veau and Van Langenbeeck for palatoplasty. CONCLUSIONS: This study is the first to address treatment procedures for individuals with CL/P in the state of Minas Gerais. For unilateral CL/P we predominantly used the association of McComb, Veau and Millard techniques, respectively, for rhinoplasty, palatoplasty and cheiloplasty, in 76.9% of the patients.

Summary Cleft lip and palate (CL/P) are the most common congenital anomalies of the craniofacial region. Aim to evaluate the surgical techniques used in CL/P treatment in a craniofacial deformities ward, in Minas Gerais. Materials and Methods In this retrospective study, carried out between 2002 and 2007, we studied 109 individuals with non-syndromic CL/P submitted to treatment. The aspects analyzed (personal identification, classification of CL/P and surgical treatment performed) were obtained from patient charts, and then we built a database and ran statistical analyses through the SPSS 13.0 software. Followed by descriptive analysis of the surgical procedures depending on the type of CL/P found. Results Among the 109 patients, 65.1% were males and 34.8% females. We found that 45% of patients had cleft lip and palate, 37.6% cleft lip only and 17.4% cleft palate only. The surgical techniques employed were predominantly those from Millard and Spina for cheiloplasty, McComb for rhinoplasty and, Veau and Van Langenbeeck for palatoplasty. Conclusions This study is the first to address treatment procedures for individuals with CL/P in the state of Minas Gerais. For unilateral CL/P we predominantly used the association of McComb, Veau and Millard techniques, respectively, for rhinoplasty, palatoplasty and cheiloplasty, in 76.9% of the patients.

O objetivo deste estudo foi descrever o perfil epidemiológico dos acidentes ofídicos da macrorregião de saúde do Norte do Estado de Minas Gerais, Brasil. Foram analisadas informações sobre os acidentes ofídicos relativos ao período compreendido entre janeiro de 2002 a dezembro de 2006, por meio de bancos de dados. Os resultados demonstraram 10.553 casos notificados, com ênfase para a maior casuística em meses de tempo quente e chuvoso, em áreas urbanas (54,1%), faixa etária menor de 20 anos (39,7%), acometendo mais homens e estudantes (53,1% e 29,1%) respectivamente. Os membros inferiores (pé, dedo do pé, perna e coxa) foram os locais mais afetados (35,9%), as serpentes prevalentes foram do gênero Bothrops (82,9%) e a gravidade da maioria dos acidentes foi leve (66,2%). Observou-se nesse estudo um importante impacto da sazonalidade, urbanização, subnotificação das espécies envolvidas nesses acidentes e busca rápida pelo pronto atendimento. Espera-se que os dados inéditos da casuística obtida possam servir de substrato para o planejamento e execução de medidas voltadas para vigilância em saúde e atendimento. 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.

A Fundação de Amparo à Pesquisa do Estado de Minas Gerais (Fapemig) é a única agência de fomento à pesquisa científica, ao desenvolvimento tecnológico e à inovação do Estado. Em decorrência da escassez de estudos sobre a produção científica e sua relação com o fomento de projetos pela Fapemig, este estudo tem por objetivo estabelecer os produtos científicos na área de medicina (artigos científicos nacionais e estrangeiros publicados em periódicos indexados, apresentação de resumos científicos em congressos nacionais e internacionais, e formação de recursos humanos qualificados - orientação de iniciação científica, mestrado, doutorado) verificados a partir do financiamento de projetos de pesquisa do Edital Universal da Fapemig. Com base nos arquivos da agência, foram reportadas as características dos projetos aprovados, bem como a produtividade científica médica gerada entre 1986 e 2002. Nesse período, a Fapemig aprovou 183 projetos na área da medicina. Destes, seis foram retirados do estudo, visto que os coordenadores não tiveram seus currículos Lattes encontrados, por motivos como aposentadoria. Os 177 projetos analisados tiveram 118 pesquisadores distintos como coordenadores, sendo 63,2% do gênero masculino e 36,7% do feminino. Cem por cento dos projetos aprovados foram de instituições públicas, incluindo universidades e outros órgãos públicos. Verificou-se um montante de 630 produtos científicos, sendo o mais comum a apresentação de trabalhos em eventos científicos (41,13%), seguida da orientação de iniciação científica e pós-graduação (29,57%). O indicador menos observado foi a publicação de artigos científicos nacionais e estrangeiros (29,26%). No tocante à publicação de artigos científicos, houve similaridade entre periódicos nacionais e estrangeiros. Entre os periódicos nacionais, destacaram-se: Revista da Sociedade Brasileira de Medicina Tropical, Brazilian Journal of Medical and Biological Research, Memórias do Instituto Oswaldo Cruz, Cadernos de Saúde Pública. Entre os estrangeiros, destacaram-se Journal of Clinical Pathology e Journal of Medical Microbiology. The Minas Gerais State Research Foundation (Fapemig) is the only agency that promotes scientific research, technological development, and innovation in the State of Minas Gerais, Brazil. Due to the scarcity of studies on scientific production and its relationship to project funding by Fapemig, the current study aims to identify the scientific outputs in the field of medicine (national and international scientific articles published in indexed journals, presentation of scientific abstracts at national and international congresses, and training of qualified human resources - supervision of monographs and Master's and PhD theses), based on research funding through the Fapemig call for projects. The agency's archives were used as the data source to report on the characteristics of projects approved for funding, as well as on the resulting medical scientific productivity from 1986 to 2002. During this period, Fapemig approved 183 projects in the field of medicine. Of these, six were removed from the study, since their coordinators' CVs could not be located in the Lattes database, for reasons such as retirement. The 177 projects that were analyzed had 118 different researchers as coordinators (63.2% males and 36.7% females). One hundred percent of the approved projects were from public institutions, including universities and government agencies. There were a total of 630 scientific outputs, the most common being presentation of papers at scientific events (41.13%), followed by supervision of undergraduate monographs and graduate theses (29.57%). The least frequent indicator was publication of national and international scientific articles (29.26%). There was a balance between Brazilian and international periodicals. The former included Revista da Sociedade Brasileira de Medicina Tropical, Brazilian Journal of Medical and Biological Research, Memórias do Instituto Oswaldo Cruz, and Cadernos de Saúde Pública. Foreign periodicals included Journal of Clinical Pathology and Journal of Medical Microbiology.

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.

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.

Gingival fibromatosis (GF) is characterized by fibrotic enlargement of the gingiva that can be inherited as an isolated trait (named hereditary gingival fibromatosis) or as a component of a syndrome. This article reports one kindred affected by a syndrome characterized by GF associated with dental abnormalities (DA) including generalized thin hypoplastic amelogenesis imperfecta (AI).To characterize the pattern of inheritance and the clinical features, 70 family members were examined. Hematoxylin and eosin staining, immunohistochemistry, and scanning electronic microscopy (SEM) were performed to identify the alterations on gingiva, teeth, and dental follicles.Examination of the family pedigree demonstrated multiple consanguineous first-cousin marriages and an autosomal recessive trait of inheritance. Four members demonstrated mild GF in association with DA, including generalized thin hypoplastic AI, intrapulpal calcifications, delay of tooth eruption, and pericoronal radiolucencies involving unerupted teeth. One of those four patients also had mental retardation (MR). MR as an isolated feature was observed in six members, whereas isolated GF was found in one individual. A combination of gingivectomy and gingivoplasty followed by regular dental procedures were performed in these patients. Histologic examination of the gingival enlargement revealed a dense connective tissue containing myofibroblasts, islands of odontogenic epithelium, and calcified psammomatous deposits, which resembled cementicle-like structures by SEM. Pericoronal lesions also showed calcified psammomatous deposits in association with islands of odontogenic epithelium. Enamel ultrastructure analysis revealed normal surface alternating with irregular and porous areas.To the best of our knowledge, these cases represent a new syndrome within the spectrum of those including GF.

Pesquisadores brasileiros têm demonstrado aumento na produção científica associada à publicação de trabalhos na literatura corrente. O objetivo desse estudo foi compreender o perfil de pesquisadores brasileiros voltados para a odontologia com bolsas de produtividade concedidas pelo Conselho Nacional de Pesquisa (CNPq). Para revelar o perfil, 132 Currículos Lattes de pesquisadores, durante 2003 a 2005, foram cuidadosamente analisados, e variáveis como gênero, classificação no CNPq (1A a 1D, 2), instituição de origem, tempo de doutorado, artigos publicados com o respectivo Qualis, livros e capítulos de livros, orientações de mestrado e doutorado e áreas de atuação foram catalogados. O perfil geral foi formado por homens (64,39%), classificação classe 2 (42,42%), concentrados em instituições do Estado de São Paulo (85,6%), com 10 a 15 anos de doutorado (32.57 %), publicando em periódicos Qualis A Internacional e Qualis B Nacional. A produção de livros ou capítulos de livros, orientações de mestrados ou doutorados foram heterogêneas. A visão geral revelou uma produção consistente associada a grupos de pesquisadores consolidados.

Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. Material and Methods: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. Results: The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. Conclusions: These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. Clinical relevance: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1

Sickle cell anemia (SCA) is the most prevalent genetic disease worldwide. Recurrent vaso-occlusive infarcts predispose SCA patients to infections, which are the primary causes of morbidly and mortality. This study aimed to evaluate the relationship between SCA and endodontic diseases. Personal information, medical data (hematological indices, virologic testing, blood transfusions, medications received, splenectomy) and information on the need for endodontic treatment were obtained from SCA patients who were registered and followed up by the Fundação Hemominas, Minas Gerais, Brazil.These data were compared with the need for root canal treatment in SCA patients. One hundred eight patients comprised the studied population, and the rate of the need for endodontic therapy was 10.2%. Among the medical data, a significant difference was observed for eosinophil (p = 0.045) counts and atypical lymphocyte counts (p = 0.036) when the groups (with and without the need for endodontic treatment) were compared. Statistical relevance was observed when comparing the patients with and without the need for root canal therapy concerned eosinophil counts and atypical lymphocyte counts. The differences in statistical medical data, observed between the groups suggest that both parameters are naturally connected to the stimulation of the immune system that can occur in the presence of root canal infections and that can be harmful to SCA individuals.

Gingival fibromatosis, a relatively rare condition, develops as a slowly progressing, benign, and localized or generalized enlargement of keratinized gingiva. The purpose of this study was to investigate the expression of epidermal growth factor and the epidermal growth factor receptor and perform histomorphometric analysis of epithelial tissue in gingival fibromatosis. Immunohistochemistry with antibodies against the aforementioned antigens was performed in gingival tissues from a family with hereditary gingival fibromatosis and a family with syndromic dental anomaly-associated gingival fibromatosis ; normal gingiva was used for comparison. The height of epithelial papillae and area and perimeter of epithelial layers were measured for histomorphometric analysis. Immunoreactivity to epidermal growth factor was found in the cytoplasm of epithelial cells, and immunopositivity for epidermal growth factor receptor was detected in the cytoplasm and membrane of epithelial cells. No differences in the expression of these proteins were observed among the groups. The gingival fibromatosis groups had higher epithelial papillae and larger epithelial areas that the normal gingiva group. Our findings suggest that enlargement of epithelial layers is associated with both forms of gingival fibromatosis.

Aims Evaluate the seasonal influence in nonsyndromic cleft lip and/or palate (NSCL/P) in Brazilian patients. Methods A case-control study, with 361 unrelated patients with NSCL/P and 481 healthy individuals, was done on a reference service for craniofacial deformities in Minas Gerais State, Brazil. Information was collected from clinical records considering gender, month of birth, as well as with the seasons. Results Nonparametric tests did not show a seasonal variation in month of birth and in seasons of year of NSCL/P compared to a control group (p = 0.902 and p = 0.679, respectively). A difference in births between the groups was identified only in January, however, was not significant. Moreover, among the control group there were more births in the months of February and August, and for the cleft group, more in July and August. The males were more affected by cleft lip with or without palate (CLP) and the females by isolated cleft palate (CP) manifestation. The ratio of CL:CLP:CP indicated that CLP was predominant when compared with CL and CP, CLP was more frequent in male patients, and CP predominance was seen in females. Conclusion This study did not show seasonal differences in births on NSCL/P in a Brazilian group, emphasizing that environmental factors may be related to oral clefts. These results provide a basis for further epidemiological studies of orofacial clefts in Brazil.

INTRODUCTION: Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face. OBJECTIVE: To assess the relationship between maternal smoking, gender and CL/P. METHODS: This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: Cases: mothers of children with CL/P (n = 843) and Controls: mothers of children without CL/P (n = 676). All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. RESULTS: An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR = 3.51; 95% CI 2.83-4.37). By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. CONCLUSION: Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential. RESUMO Introdução: Fendas labiais e/ou palatinas (FL/P) representam as anomalias congênitas mais comuns da face. Objetivo: Avaliar a relação entre tabagismo materno, gênero e FL/P. Método: Realizou-se um estudo epidemiológico, de corte transversal. Foram entrevistadas 1.519 mães, divididas em dois grupos: Casos: mães de crianças com FL/P (n = 843); e Controles: mães de crianças sem FL/P (n = 676). Todas as mães foram classificadas como fumantes ou não fumantes durante o primeiro trimestre de gravidez. Para determinar a associação entre tabagismo materno, gênero e FL/P, odds ratios foram calculadas e o ajuste realizado pelo modelo de regressão logística. Resultados: Observou-se associação entre tabagismo materno, e fendas. Houve também forte associação entre sexo masculino e presença de fendas (OR = 3,51; 95% IC 2,83-4,37). Regressão logística binária demonstrou que ambas as variáveis foram independentemente associadas coma ocorrência de fendas. Na análise multivariada, o sexo masculino teve 2,5 vezes mais chance de apresentar fendas e tabagismo materno teve 1,5 vez mais chance dessa ocorrência. Conclusão: Os resultados são consistentes com a associação positiva entre tabagismo materno durante a gravidez e a ocorrência de FL/P no gênero masculino. Os resultados suportam a importância da prevenção do tabagismo e a aplicação de programas entre mulheres com potencial de gravidez.

Background Fanconi syndrome (FS) is a generalized dysfunction of renal proximal tubules resulting in impaired reabsorption of amino acids, phosphate, urate, bicarbonate, glucose, and electrolytes. FS can be a primary renal impairment due to genetic origin or secondary to inborn errors of metabolism or systemic diseases. Main clinical findings are polyuria, failure to thrive, rickets/osteomalacia, metabolic acidosis, bone deformities, and, occasionally, nephrocalcinosis. Although dental abnormalities have been reported in patients with tubulopathies, oral manifestations in FS were very rarely described. Case report Two patients with FS exhibiting important dental alterations were reported. Oral examination of the first patient revealed teeth with rough surfaces and white opaque areas. Early loss of primary teeth and delayed eruption of permanent teeth were also observed. Oral examination of the second patient detected delayed eruption of permanent teeth and X-ray images revealed loss of contrast between enamel and dentin. In both patients with FS, loss of bone density in maxilla and mandible was observed in X-ray images. Conclusions This study is the first report of dental abnormalities in Brazilian patients with FS. Furthermore, our findings support the general idea that renal tubular disorders might impact on mineralized tissues of the oral cavity.

The purpose of this study was to evaluate the prevalence of taurodontism in patients with nonsyndromic cleft lip and palate (NSCLP) within a Brazilian population.The study was designed as an epidemiologic case-control single-center study. Three hundred eighty-eight patients were included: 88 had NSCLP, and 300 comprised the control group. The first and second permanent mandibular molars were included in this study. By using panoramic radiographs, taurodontism was categorized as mesotaurodontism, hypotaurodontism, and hypertaurodontism.Seventy patients (23.3%) from the control group and 36 patients (40.9%) from the case group presented taurodontism (P.001). In the control group, 108 (9%) teeth showed taurodontism, whereas in the case group with cleft lip and palate (CLP), 64 (18.2%) teeth showed dental anomalies (P.001). In both groups, most taurodontic teeth presented hypotaurodontism, followed by mesotaurodontism, while hypertaurodontism was found in only two teeth. The probability of taurodontism in patients with cleft lip (CL) was 2.36 (P = .010) times higher compared with those with CLP, whereas the occurrence of taurodontism in patients with cleft palate (CP) was 3.15 (P = .002) times greater than in patients with CLP.The results from this study indicate a close relationship between taurodontism and NSCLP and the possibility of different cleft subphenotypes.

This study aimed to evaluate the in vitro antifungal susceptibility of Candida species of head-and-neck-irradiated patients (Group 1), non-institutionalized (Group 2) and institutionalized elders (Group 3) using Etest(r) methodology. Candida was isolated from saliva and presumptively identified by CHROMagar Candida(r), confirmed by morphological criteria, carbohydrate assimilation (API 20C AUX(r)) and genetic typing (OPE 18). The collection was made from 29, 34 and 29 individuals (Groups 1, 2 and 3, respectively) with 67 isolates. Etest(r) strips (ketoconazole, itraconazole, fluconazole, amphotericin B and flucytosine) on RPMI (Roswell Park Memorial Institute) agar, on duplicate, were used to evaluate susceptibility. ATTC (American Type Culture Collection) 10231 (Candida albicans) was used as quality control. Among the 67 isolates of Candida species, most were susceptible to azoles, flucytosine and amphotericin B. None of the isolates showed resistance and dose-dependent susceptibility to amphotericin B. There were nine strains resistant to itraconazole, six to fluconazole and two to ketoconazole and ten dose-dependent, mainly to flucytocine. The highest MIC (minimum inhibitory concentration) to C. albicans, C. tropicalis, C. parapsilosis was 2.671 μg.mL-1, 8.104 μg.mL-1, 4.429 μg.mL-1, all for flucytosine. C. krusei and C. glabrata were associated with higher MIC for azoles and C. glabrata with higher MIC to flucytosine. In summary, susceptibility to all tested antifungal agents was evident. The isolates were more resistant to itraconazole and dose-dependent to flucytosine. A comparison of C. albicans in the three groups showed no outliers. Higher MIC was associated with C. krusei and C. glabrata. Esse estudo objetivou avaliar a susceptibilidade antifúngica in vitro de espécies de Candida obtidas de pacientes irradiados em cabeça e pescoço (Grupo 1), idosos não institucionalizados (Grupo 2) e idosos institucionalizados (Grupo 3) usando a metodologia Etest(r). Candida foi isolada da saliva e identificada presuntivamente pelo teste CHROMagar Candida(r), confirmada pelo critério morfológico, assimilação de carboidratos API 20C AUX(r) e identificação genética (OPE 18). A coleta foi feita em 29, 34 e 29 indivíduos (Grupos 1, 2 and 3, respectivamente) com 67 isolados. As fitas de Etest(r) (cetoconazol, itraconazol, fluconazol, anfotericina B and flucitosina) em meio ágar RPMI (Roswell Park Memorial Institute), em duplicata, foram utilizados para avaliar a susceptibilidade. A ATTC (American Type Culture Collection) 10231 (Candida albicans) foi usada como controle de qualidade. Dos 67 isolados de espécies de Candida, a maioria foi susceptíveis aos azoles, flucitosina e anfotericina B. Nenhum dos isolados mostrou resistência ou susceptibilidade dose-dependente a anfotericina B. Houve nove espécies resistentes ao itraconazol, seis ao fluconazol e duas ao cetoconazol e dez dose-dependentes, principalmente a flucitosina. Os maiores valores de MIC (mínima concentração inibitória) para C. albicans, C. tropicalis, C. parapsilosis foram, respectivamente, 2,671 μg.mL-1, 8,104 μg.mL-1, 4, 429 μg.mL-1, todos para a flucitosina. C. krusei e C. glabrata foram associadas a um maior MIC para azoles e C. glabrata com maior MIC para flucitosina. Em resumo, a susceptibilidade a todos os antifúngicos testados foi evidente. Os isolados foram mais resistentes ao itraconazol e dose dependentes para a flucitosina. A comparação para C. albicans nos três grupos não mostrou diferença. Os maiores valores de MIC estavam relacionados a C. krusei e C. glabrata.

Increased collagen and extracellular matrix deposition within the gingiva is the main characteristic feature of hereditary gingival fibromatosis (HGF). To date, it is not well established if these events are a consequence of alterations in the collagen and other extracellular matrix molecules synthesis or disturbances in the homeostatic equilibrium between synthesis and degradation of extracellular matrix molecules. Cytokines are important regulators of expression of the profibrogenic genes, including type I collagen and its molecular chaperone heat shock protein (Hsp)47 and proteolytic enzymes degrading extracellular matrix such as matrix metalloproteinases-1 and -2 (MMP-1 and MMP-2).In this study, we analyzed the expression and production of type I collagen, Hsp47, MMP-1, and MMP-2 in normal gingiva (NG) and HGF fibroblasts, and investigated the effects of transforming growth factor-beta1 (TGF-beta1), interleukin-6 (IL-6) and interferon-gamma (IFN-gamma) on the expression of these genes by NG and HGF fibroblasts.Our results obtained from semi-quantitative reverse transcription-polymerase chain reactions (RT-PCR), Western blots, enzyme-linked immunosorbent assays (ELISA), and enzymographies clearly demonstrated that the expression and production of type I collagen and Hsp47 were significantly higher in fibroblasts from HGF than from NG, whereas MMP-1 and MMP-2 expression and production were lower in fibroblasts from HGF patients. Addition of TGF-beta1 and IL-6, which are produced in greater amounts by HGF fibroblasts, promoted an increase in type I collagen and Hsp47 and a decrease in MMP-1 and MMP-2 expression. IFN-gamma reduced both type I collagen and Hsp47 expression, whereas it had a slight effect on the expression of MMP-1 and MMP-2.These patterns of expression and production suggest that enhanced TGF-beta1 and IL-6 production simultaneously increase the synthesis and reduce the proteolytic activities of fibroblasts from patients with HGF, which may favor the accumulation of extracellular matrix observed in patients with this condition.