RESUMO

Determine the population prevalence and trends of cleft lip and/or palate (CL/P) by department for Colombia in the period 2009 to 2015.Prevalence study based on Individual Registry of Health Services in general population from 2009 to 2015. All people diagnosed with CL/P were included for all ages, type of diagnosis, and any type of health services in the mentioned period. The prevalence was calculated by period and point for each year, for each department and according to the type of cleft. Stationarity on time series was evaluated using (Dickey-Fuller) and (Phillips-Perron). A trend test was applied to estimate whether the increase in prevalence was significant in the period. The trend test used was a Poisson regression.A total 15 225 people with CL/P were identified, where 53.3% were men. The national period prevalence of CL/P is 3.37 per 10 000 with upward trend (prevalence ratio = 1.34, P = .05) and nonstationary behavior. The national period prevalence of cleft lip is 0.93 per 10 000, cleft palate 1.17 per 10 000, and cleft lip and palate (CLP) 1.26 per 10 000, where CLP is subclassify into unilateral CLP (0.83 per 10 000) and bilateral CLP (0.43 per 10 000). At the departmental level, the highest CL/P prevalence is Guaviare (11.2), followed by Guainía (8.4) and the lowest Quindío (0.49).In Colombia, the national period prevalence of CL/P is 3.37 per 10 000 with upward trend at national level indicates an increase in prevalence from 2009 to 2015. The 77% of the total CL/P population are infant or adolescent. Geographically, the central region has the highest availability of technologies.

Assuntos

Fenda Labial , Fissura Palatina , Masculino , Lactente , Adolescente , Humanos , Feminino , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Prevalência , Colômbia/epidemiologia , Estudos Transversais

RESUMO

OBJECTIVE: To summarize the clinical evidence on the relationship between cancer and non-syndromic oral cleft (NSOC). METHODS: The review was reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist, and a literature search was conducted in six databases and gray literature. Studies published in any language mentioning cancer in patients with NSOC and their relatives and NSOC in patients with cancer and their relatives were included. Risk of bias was assessed using the Joanna Briggs Institute appraisal tool. The certainty of the evidence was evaluated using the GRADE (Grading of Recommendation, Assessment, Development, and Evaluation) assessment. After a 2-step selection process, 33 studies were included: 17 case-control studies, 13 cross-sectional studies, and 3 case reports. RESULTS: The study evaluated 206,096 patients from 20 countries. Of these, 0.35% of patients with cancer (95% CI: 0.0%-1.1%; I2  = 86%), 3.0% of relatives of patients with cancer (95% CI: 1.19%-5.46%; I2  = 55%), and 0.26% of controls (95% CI: 0.0%-0.83%; I2  = 87%) had NSOC. Among the studies that examined the prevalence of cancer, 2.4% (95% CI: 0.0%-19.3%; I2  = 99%) of patients with NSOC, 15.4% of relatives of patients with NSOC (95% CI: 2.0%-37.6%; I2  = 99%), and 5.3% of controls (95% CI: 0.0%-22.8%; I2  = 99%) had cancer. Although no relationship was observed between the risk of cancer in patients with NSOC and the risk of NSOC in patients with cancer, there was an association for an increased risk of cancer in relatives of patients with NSOC (OR: 9.96, 95% CI: 1.55-63.99; p = 0.01) and a significant association for the NSOC risk in relatives of patients with leukemia (OR: 9.31; 95% CI: 1.13-76.67; p = 0.03). CONCLUSION: Our findings demonstrate an increased risk of cancer in relatives of patients with NSOC and that relatives of patients with leukemia were more frequently affected by NSOC. Together, these findings can help guide cancer screening in patients with NSOC and their relatives and shed light on the risk of NSOC in families with a history of cancer.

Assuntos

Fenda Labial , Fissura Palatina , Leucemia , Neoplasias , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Estudos Transversais , Predisposição Genética para Doença , Genótipo , Humanos , Neoplasias/epidemiologia , Polimorfismo de Nucleotídeo Único

RESUMO

The identification of genetic risk factors for non-syndromic oral clefts is of great importance for better understanding the biological processes related to this heterogeneous and complex group of diseases. Herein we applied whole-exome sequencing to identify potential variants related to non-syndromic cleft palate only (NSCPO) in the multiethnic Brazilian population. Thirty NSCPO samples and 30 sex- and genetic ancestry-matched healthy controls were pooled (3 pools with 10 samples for each group) and subjected to whole-exome sequencing. After filtering, the functional affects, individually and through interactions, of the selected variants and genes were assessed by bioinformatic analyses. As a group, 399 variants in 216 genes related to palatogenesis/cleft palate, corresponding to 6.43%, were exclusively identified in the NSCPO pools. Among those genes are 99 associated with syndromes displaying cleft palate in their clinical spectrum and 92 previously related to cleft lip palate. The most significantly biological processes and pathways overrepresented in the NSCPO-identified genes were associated with the folic acid metabolism, highlighting the interaction between LDL receptor-related protein 6 (LRP6) and 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR) that interconnect two large networks. This study yields novel data on characterization of specific variants and complex processes and pathways related to NSCPO, including many variants in genes of the folate/homocysteine pathway, and confirms that variants in genes related to syndromic cleft palate and cleft lip-palate may cause NSCPO.

RESUMO

OBJECTIVES: Genetic variants in multiple genes and loci have been associated with the risk of nonsyndromic cleft lip with or without cleft palate (NSCL ± P). However, the estimation of risk remains challenge, because most of these variants are population-specific rendering the identification of the underlying genetic risk difficult. Herein we examined the use of machine learning network in previously reported single nucleotide polymorphisms (SNPs) to predict risk of NSCL ± P in the Brazilian population. MATERIALS AND METHODS: Random forest and neural network methods were applied in 72 SNPs in a case-control sample composed by 722 NSCL ± P and 866 controls for discrimination of NSCL ± P risk. SNP-SNP interactions and functional annotation biological processes associated with the identified NSCL ± P risk genes were verified. RESULTS: Supervised random forest decision trees revealed high scores of importance for the SNPs rs11717284 and rs1875735 in FGF12, rs41268753 in GRHL3, rs2236225 in MTHFD1, rs2274976 in MTHFR, rs2235371 and rs642961 in IRF6, rs17085106 in RHPN2, rs28372960 in TCOF1, rs7078160 in VAX1, rs10762573 and rs2131960 in VCL, and rs227731 in 17q22, with an accuracy of 99% and an error rate of approximately 3% to predict the risk of NSCL ± P. Those same 13 SNPs were considered the most important for the neural network to effectively predict NSCL ± P risk, with an overall accuracy of 94%. Multivariate regression model revealed significant interactions among all SNPs, with an exception of those in FGF12 and MTHFD1. The most significantly biological processes for selected genes were those involved in tissue and epithelium development; neural tube closure; and metabolism of methionine, folate, and homocysteine. CONCLUSIONS: Our results provide novel clues for genetic mechanism studies of NSCL ± P and point out for a machine learning model composed by 13 SNPs that is capable of predicting NSCL ± P risk. CLINICAL RELEVANCE: Although validation is necessary, this genetic panel can be useful in the near future to assist in NSCL ± P genetic counseling.

Assuntos

Fenda Labial , Fissura Palatina , Brasil , Estudos de Casos e Controles , Fenda Labial/genética , Fissura Palatina/genética , Predisposição Genética para Doença , Genótipo , Humanos , Fatores Reguladores de Interferon/genética , Aprendizado de Máquina , Metilenotetra-Hidrofolato Desidrogenase (NADP) , Antígenos de Histocompatibilidade Menor , Polimorfismo de Nucleotídeo Único

RESUMO

Multiple studies have demonstrated an association between cancer and nonsyndromic oral clefts in different populations. In this study, we assessed the occurrence of nonsyndromic oral clefts in families of patients with acute lymphoblastic leukemia (ALL, n = 50) and controls (n = 125). The parents of the patients answered a questionnaire with basic demographic information and family history of nonsyndromic oral clefts in first-degree relatives. Statistical analysis was carried out using Fisher's exact test. In the ALL group, 22 (44%) were male and 28 (56%) were female, and the average age was 13.2 ± 12.2 years. In the control group, 64 (51.2%) were male and 65 were female and the average age was 11.3 ± 10.3 years. Two out of 50 patients (4%) with acute lymphoblastic leukemia had a positive history of nonsyndromic oral clefts, whereas there were no reported occurrences of nonsyndromic oral clefts in the control group (OR: 12.94, 95% CI: 0.61-274.6, p = 0.08). Despite the limited population, the frequency of nonsyndromic oral clefts was increased in the first-degree relatives of patients with acute lymphoblastic leukemia. Studies with larger samples and molecular analyses are needed to better understand the possible etiological relationship between cancer and nonsyndromic oral clefts.

RESUMO

OBJECTIVE: To investigate the association of single-nucleotide polymorphisms (SNP) in grainyhead-like 3 (GRHL3) and to verify its possible interactions with others genes responsible for craniofacial development in the risk of non-syndromic oral cleft (NSOC). METHODS: Applying TaqMan allelic discrimination assays, we evaluated GRHL3 SNPs (rs10903078, rs41268753, and rs4648975) in an ancestry-structured case-control sample composed of 1,127 Brazilian participants [272 non-syndromic cleft palate only (NSCPO), 242 non-syndromic cleft lip only (NSCLO), 319 non-syndromic cleft lip and palate (NSCLP), and 294 healthy controls]. Additionally, SNP-SNP interactions of GRHL3 and previously reported variants in FAM49A, FOXE1, NTN1, and VAX1 were verified in non-syndromic cleft lip with or without cleft palate (NSCL ± P). To eliminate false-positive associations, Bonferroni correction or 1,000 permutation method was applied. RESULTS: The multiple logistic regression analysis showed that the CC genotype of rs10903078 (p = .03) and the haplotype C-C formed by the SNPs rs10903078 and rs41268753 (p = .04) were associated with NSCLO, but the p-values did not withstand Bonferroni correction. However, SNP-SNP test revealed significant interactions between GRHL3 SNPs and FAM49A (rs7552), FOXE1 (rs3758249), VAX1 (rs7078160 and rs751231), and NTN1 (rs9891446). CONCLUSIONS: Our results confirm the importance of GRHL3 and its interactions with previously NSOC-associated genes, including FAM49A, FOXE1, NTN1, and VAX1, in the pathogenesis of NSOC in the Brazilian population.

Assuntos

Fenda Labial/genética , Fissura Palatina/genética , Proteínas de Ligação a DNA/genética , Polimorfismo de Nucleotídeo Único , Fatores de Transcrição/genética , Brasil , Estudos de Casos e Controles , Feminino , Fatores de Transcrição Forkhead/genética , Predisposição Genética para Doença , Genótipo , Proteínas de Homeodomínio/genética , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/genética , Masculino , Netrina-1/genética

RESUMO

OBJECTIVE: To analyze the population prevalence and birth prevalence of oral clefts in Colombia from 2009 to 2017. METHODS: A cross-sectional study using information from the National Administrative Records of Colombia. The data came from 2 types of administrative records (Surveillance System and the Individual Registry of Service Provision) and the oral health national survey. Population prevalence and birth prevalence by type of cleft lip and/or cleft (CL/P) ratios were calculated using Poisson distribution for count data and to assess stationary tests on time series (Dickey-Fuller) and (Phillips-Perron) was used. RESULTS: Population prevalence in Colombia was 3.27 per 10 000 inhabitants (95% confidence interval [CI], 3.21-3.32) and birth prevalence was 6.0 per 10 000 live births (95% CI, 5.67-6.35). Bogotá have the highest population prevalence with CL/P. In the analysis of trends for the prevalence proportion by type of clefts in newborn babies with cleft, it was observed that the highest proportion was for babies with CLP. Cleft lip (CL) has increased from 17.4% in 2014 to 34.2% in 2017, cleft palate (CP) has decreased from 32.9% to 20.2%; and CLP changed from 49.6% to 45.5% in the same period. CONCLUSIONS: The population prevalence was 3.27 per 10 000 inhabitants. Births prevalence was 6.0 per 10 000 live births, and Orinoquia and Amazonia have higher rates than the national average. The administrative registers are adequate systems to know the behavior of oral clefts. The CL/P had a nonstationary trend during the period 2014 to 2017.

Assuntos

Fenda Labial , Fissura Palatina , Brasil , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Colômbia/epidemiologia , Estudos Transversais , Humanos , Incidência , Recém-Nascido , Prevalência

RESUMO

Here we report on a Brazilian child who presented semilobar holoprosencephaly, frontonasal encephaloceles and bilateral cleft lip and palate. Malformations also included agenesis of the corpus callosum, abnormal cortical gyres, dilation of the aqueduct, bilateral endolymphatic sac, bilateral cystic cocci-vestibular malformation, and a cribriform defect. The 3D TC craniofacial images showed abnormal frontonasal transition region, with a bone bifurcation, and partial agenesis of nasal bone. The trunk and upper and lower limbs were normal. To our knowledge, this rare association of holoprocensephaly with frontonaso-orbital encephaloceles without limb anomalies has never been reported before. Karyotype was normal. SNP-array showed no copy-number alterations but revealed 25% of regions of homozygosity (ROH) with normal copy number, indicating a high coefficient of inbreeding, which significantly increases the risk for an autosomal recessive disorder. Whole exome sequencing analysis did not reveal any pathogenic or likely pathogenic variants. We discuss the possible influence of two variants of uncertain significance found within the patient's ROHs. First, a missense p.(Gly394Ser) in PCSK9, a gene involved in the regulation of plasma low-density lipoprotein cholesterol. Second, an inframe duplication p.(Ala75_Ala81dup) in SP8, a zinc-finger transcription factor that regulates signaling centers during craniofacial development. Further studies and/or the identification of other patients with a similar phenotype will help elucidate the genetic etiology of this complex case.

Assuntos

Fenda Labial/diagnóstico , Fenda Labial/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Encefalocele/diagnóstico , Encefalocele/genética , Holoprosencefalia/diagnóstico , Holoprosencefalia/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Mapeamento Cromossômico , Estudos de Associação Genética , Predisposição Genética para Doença , Homozigoto , Humanos , Imageamento Tridimensional , Imageamento por Ressonância Magnética , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Síndrome , Tomografia Computadorizada por Raios X , Sequenciamento do Exoma

RESUMO

OBJECTIVE: To evaluate the association of single nucleotide polymorphisms (SNPs) in genes/loci consistently altered in nonsyndromic oral clefts in patients with oral and breast cancer in a Brazilian population. DESIGN: This case-control study evaluated the association of SNPs in IRF6 (rs642961), WNT3A (rs708111), GSK3ß (rs9879992), 8q24 (rs987525) and WNT11 (rs1533767), representing regions consistently identified as of susceptibility for oral clefts, with oral cancer (oral squamous cell carcinoma) and breast cancer. Logistic regression analyses were used for confounding adjustments, and p values ≤0.01 were considered statistically significant (Bonferroni correction = 0.05/5 polymorphic markers). RESULTS: The minor G allele of rs9879992 in GSK3ß was associated with oral cancer risk (p = 0.02), whereas rs1533767 in WNT11 showed a protective effect against it (p = 0.04). Several SNP-SNP interactions containing GSK3ß rs9879992 were significantly associated with oral cancer after 1000 permutation test. To breast cancer, the A allele of rs987525 was associated with increase risk in early stage (p = 0.02) and SNP-SNP interactions involving the 5 SNPs were significantly observed, with the most significant interaction among rs708111, rs1533767, rs9879992 and rs642961 (p1000permutation<0.001). CONCLUSION: Our results reveal associations of SNPs consistently altered in oral cleft with oral and breast cancer risk, raising interesting possibilities to identify risk markers for those tumors.

Assuntos

Neoplasias da Mama/genética , Fissura Palatina/genética , Predisposição Genética para Doença , Neoplasias Bucais/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Alelos , Brasil , Carcinoma de Células Escamosas/genética , Estudos de Casos e Controles , Feminino , Genótipo , Glicogênio Sintase Quinase 3 beta/genética , Humanos , Fatores Reguladores de Interferon/genética , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Mutação , Análise de Regressão , Fatores de Risco , Proteínas Wnt/genética

RESUMO

BACKGROUND: Although various genes and genomic regions were described as of susceptibility for nonsyndromic oral clefts (NOC), recent reports have demonstrated significant interethnic variations in the genetic predisposition, a situation that affects the Brazilian population, one of the most admixed populations in the world. Therefore, the purpose of this review was to describe the available information on genetic risk markers for NOC in the Brazilian population. METHODS: A systematic search of the literature was performed using LILACS, LIVIVO, PubMed, Scopus, and Web of Science databases, and studies that investigated genetic susceptibility markers for NOC in the Brazilian population were retrieved. Markers with enough statistical data were subjected to meta-analysis using random- or fixed-effects model with odds ratio (OR) and 95% confidence intervals (95% CI) as effect measures. RESULTS: Forty-nine studies conducted since 1999 were found, and in these 114 markers were evaluated throughout case-control or family-based approaches. Most of the studies were conducted with patients affected by nonsyndromic cleft lip with or without cleft palate (NSCL ± P), and 79 markers (69.3%) were evaluated by a single study only. Meta-analysis was performed with nine markers, and the most promising results were obtained for IRF6 (rs642961), 8q24 (rs987525 and rs1530300) and MTHFR (rs1801133), which were associated with increased risk for NSCL ± P, and for BMP4 (rs17563) that showed a protective effect for NSCL ± P. CONCLUSION: A large number of genetic markers distributed in several genes/loci was associated with NOC in the Brazilian population, but in general the original studies included limited number of samples and unsatisfactory protocols. The classical risk markers located in IRF6 and 8q24 showed promising results as well as rs1801133 in MTHFR and rs17563 in BMP4, and they should be validated in larger and multicenter studies taking in consideration the variations in the miscegenation of Brazilian population.

Assuntos

Fenda Labial/genética , Fissura Palatina/genética , Alelos , Proteína Morfogenética Óssea 4/genética , Brasil/epidemiologia , Frequência do Gene/genética , Marcadores Genéticos/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Padrões de Herança , Fatores Reguladores de Interferon/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Razão de Chances , Polimorfismo de Nucleotídeo Único/genética

RESUMO

OBJECTIVES: The present study aims to describe the clinical, electrocardiographic, and echocardiographic cardiological findings in a group of patients with oral clefts. METHODS: This is a prospective cross-sectional study on 70 children (age range from 13 days to 19 years) with oral clefts who attended the multidisciplinary program of a university hospital from March 2013 to September 2014. The patients were evaluated by a pediatric cardiologist and underwent detailed anamnesis, physical examination, electrocardiogram, and echocardiogram. RESULTS: Sixty percent of the patients were male; 55.7% presented with cleft lip and palate, and 40.0% presented with health complaints. Comorbidities were found in 44.3%. Relevant pregnancy, neonatal, family and personal antecedents were present in 55.7%, 27.1%, 67.2%, and 24.3% of the patients, respectively. Regarding the antecedents, 15.2% of the patients presented with a cardiac murmur, 49.0% with a familial risk of developing plurimetabolic syndrome, and 6% with family antecedents of rheumatic fever. Electrocardiographic evaluation showed one case of atrioventricular block. Echocardiograms were abnormal in 35.7% of the exams, including 5 cases of mitral valve prolapse — one of which was diagnosed with rheumatic heart disease. CONCLUSION: The finding of a family risk of developing plurimetabolic syndrome and a diagnosis of rheumatic heart disease indicates that patients with oral clefts may be more prone to developing acquired heart disease. Thus, our findings highlight the importance of anamnesis and methodological triangulation (clinical-electrocardiographic-echocardiographic) in the investigation of patients with oral clefts and emphasize that cardiological follow-up to evaluate acquired and/or rhythm heart diseases is necessary. This strategy permits comorbidity prevention and individualized planned treatment.

Assuntos

Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Adulto Jovem , Fenda Labial/complicações , Fissura Palatina/complicações , Anormalidades Cardiovasculares/complicações , Índice de Gravidade de Doença , Ecocardiografia , Saúde da Família , Estudos Transversais , Estudos Prospectivos , Medição de Risco , Anormalidades Cardiovasculares/diagnóstico por imagem , Síndrome Metabólica/complicações , Eletrocardiografia , Comunicação Interventricular/complicações , Comunicação Interventricular/diagnóstico por imagem

RESUMO

The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X-linked syndromes [midline 1 (MID1), oral-facial-digital syndrome 1 (OFD1), and dystrophin (DMD)] were previously found to be associated with isolated CL±P. We attempted to confirm the role of X-linked genes in the etiology of isolated CL±P in a South American population through a family-based genome-wide scan. We studied 27 affected children and their mothers, from 26 families, in a Patagonian population with a high prevalence of CL±P. We conducted an exploratory analysis of the X chromosome to identify candidate regions associated with CL±P. Four genomic segments were identified, two of which showed a statistically significant association with CL±P. One is an 11-kb region of Xp21.1 containing the DMD gene, and the other is an intergenic region (8.7 kb; Xp11.4). Our results are consistent with recent data on the involvement of the DMD gene in the etiology of CL±P. The MID1 and OFD1 genes were not included in the four potential CL±P-associated X-chromosome genomic segments.

RESUMO

Richieri-Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4-month-old boy with the most severe phenotype yet reported.

Assuntos

Pé Torto Equinovaro/patologia , Deformidades Congênitas da Mão/patologia , Síndrome de Pierre Robin/patologia , Adolescente , Adulto , Brasil , Pé Torto Equinovaro/diagnóstico por imagem , Feminino , Deformidades Congênitas da Mão/diagnóstico por imagem , Humanos , Lactente , Masculino , Fenótipo , Síndrome de Pierre Robin/diagnóstico por imagem , Tomografia Computadorizada por Raios X

RESUMO

O objetivo deste estudo foi investigar a notificação de ocorrência de fissuras orais na Declaração de Nascido Vivo (DNV), através dos três itens do campo 34 (notificação de malformação congênita). Para tal, foram verificados os prontuários de pacientes inscritos em serviços de referência em tratamento de anomalias craniofaciais, incluindo os portadores de fissuras labiopalatinas e nascidos no município de Campos dos Goytacazes (RJ) entre 01/01/1999 e 31/12/2004. A seguir, foi feito levantamento junto ao Setor de Dados Vitais da SMS, onde todos os sujeitos da amostra (63) tiveram suas DNV localizadas. Constatou-se que apenas 53,3 por cento das DNV apresentavam o registro de malformação no primeiro item e a subnotificação ocorreu em todos os tipos de fissura, sendo maior na fissura palatina (70 por cento). Quanto à descrição (2º item), a fissura palatina apresentou o maior número de erros, sendo descrita corretamente em 25 por cento dos casos. Todos os documentos estudados apresentaram o código da malformação (3º item) em branco. Não houve diferença estatística entre os diferentes profissionais quanto ao preenchimento dos formulários. Deste modo, concluiu-se que a DNV se mostrou ineficiente no registro das fissuras labiopalatais, em decorrência de falhas no preenchimento, principalmente pela ausência do preenchimento do código da CID-10.

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The objective of this study was to verify the notification of information system for oral clefts in the live births declaration (DNV), studying the 3 items of DNV related to malformation. All the patients' medical records registered in oral cleft reference centers were checked. The inclusion criteria were: a) to have any oral cleft and b) to be born from 01/01/1999 to 12/31/2004. Next step was to raise the information in the vital data sector of Municipal Health Secretary, where all the DNVs identified were subjects with oral clefts (63 children). The first item presented a large subnotification (only 53.3 of the DNVs showed the register of malformation) and all types of clefts were not notified in any scale. Highest sub notification was observed for cleft palate (70 percent). Second item (description of malformation) showed similarly a high number of errors referred to palate cleft, identified only in 25 percent of the cases. All the documents showed no information about the third item (code of malformation). There was no statistical difference between professionals responsible for filling out the document. In conclusion, the DNV was inefficient to register the oral cleft cases due to imperfections related to 3 items studied, especially in the absence of information about CID-10 codes.

Assuntos

Humanos , Recém-Nascido , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Brasil/epidemiologia , Incidência , Fatores de Tempo

RESUMO

As fissuras de rebordo alveolar e palato duro estão entre as malformações mais frequentes do corpo humano, podendo causar extensas deformidades ósseas faciais, com implicações biopsíquico-sociais marcantes. A avaliação da extensão desses defeitos ósseos, através de exames por imagem, tem sido feita com o objetivo de diagnosticar e planejar a terapêutica reabilitadora dos pacientes. O presente estudo tem por objetivo desenvolver uma metodologia de pós-processamento de imagens tomográficas para avaliação volumétrica de defeitos ósseos confeccionados em palato duro e rebordo alveolar de crânios macerados, mimetizando fissuras trans-forâmens unilaterais, e verificar a aplicabilidade clínica do Tomógrafo Computadorizado espiral Multislice e do tomógrafo computadorizado por feixe cônico na análise desses defeitos. Para tanto, nove crânios provenientes da Faculdade Cathedral, da cidade de Boa Vista- RR, foram escaneados em um Tomógrafo Computadorizado Multislice pertencente ao Hospital Geral de Roraima e em um tomógrafo computadorizado por feixe cônico de uma clínica privada, na cidade de Fortaleza-CE. As imagens foram, posteriormente, encaminhadas para análise ao Laboratório em Terceira Dimensão(LAB-3D) da Faculdade de Odontologia da USP, utilizando-se uma estação de trabalho independente e aplicando-se programas específicos de computação gráfica...

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Oral clefts are one of the most frequent malformations of the human body, causing extensive facial bone deformities, compromising biological, psychic and social the individuals affected. Multislice CT and CBCT have been used to assess the volume of bone defect with the goal of diagnosis and rehabilitative therapy planning of the patients. The aim of this study were to develop a methodology for post-processing of tomographic images for volumetric assessment of bone defects made in the hard palate and alveolar ridge of dry skulls, mimicking unilateral trans-foramen clefts; and to determine the clinical applicability of multislice spiral computed tomography, and cone beam computed tomography in the analysis of these defects. Nine dry skulls from the Cathedral College in Boa Vista-RR were scanned on a multislice CT scanner at the Hospital Geral de Roraima and a cone beam computed tomography in a private clinic in Fortaleza-CE. The images were sent for analysis at Three Dimensional Laboratory (LAD-3D) of the Dentistry School, São Paulo University, using an independent workstation and implementing specific computer graphics programs. All images were analyzed by two examiners at different times and twice to proceed the intra and inter-examiners analysis. For analysis the methodology of image processing, we compared the results obtained by multislice CT using skulls with and without wax model in the region of bone defect...

Assuntos

Humanos , Masculino , Feminino , Aumento do Rebordo Alveolar/métodos , Diagnóstico por Imagem/métodos , Palato Duro/fisiologia , Tomografia Computadorizada de Feixe Cônico/métodos

RESUMO

Uma condição com aumento da fenda bucal de eqüinos por lesão na comissura labial foi estudada. Este aumento tinha extensão variável e era uni ou bilateral. Na mucosa da bochecha da comissura labial exposta havia pequenas erosões. Durante a mastigação havia perda de pequena quantidade de capim e saliva pela fenda bucal aumentada. Os animais apresentavam bom estado nutricional. O exame histopatológico de tecido retirado da comissura labial revelou epidermite superficial. Nas quatro propriedades onde se verificou o problema, constatou-se que os eqüinos eram mantidos em sistema extensivo de criação em pastagem de Panicum maximum (variedades Tanzânia, Mombaça, Tobiatã e Colonião), com folhas maduras, altas, lignificadas e de bordos cortantes. De acordo com os dados epidemiológicos, com os achados clínicos e histopatológicos, concluí-se que essas lesões foram causadas pela ação cortante das folhas de Panicum maximum, associada à forma de apreensão da pastagem alta e mastigação pelos eqüinos.

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A condition with enlargement of the oral cleft in horses was studied. The enlargement of varied extension was uni or bilateral. The cheek mucosa of the labial commissure showed slight erosions. During chewing there was loss of small amounts of grass and saliva through the oral cleft. The affected horses were in good nutritional condition. Histopathological studies of tissues obtained by biopsia, revealed a superficial epidermitis. The pastures consisted of Panicum maximum grass (varieties Tanzânia, Mombaça, Tobiatã and Colonião) which was mature, tall, lignified, with leaves of cutting edges. Based on epidemiological, clinical and histopathological data, it was concluded that the lesions were caused by the hard grass, favored by the way horses pull the tall grass and chew it.

Assuntos

Animais , Cavalos , Lábio/lesões , Panicum/efeitos adversos , Queilite/complicações , Queilite/epidemiologia , Queilite/patologia , Queilite/diagnóstico , Queilite/veterinária