Cardiovascular abnormalities in patients with oral cleft: a clinical-electrocardiographic-echocardiographic study

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.

Fissuras orais e sua notificação no sistema de informação: análise da Declaração de Nascido Vivo (DNV) em Campos dos Goytacazes, Rio de Janeiro, 1999-2004 / Oral cleft and its notification in the information system: live Births Declaration analysis in Campos dos Goytacazes, Rio de Janeiro State, 1999-2004

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.

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.

Avaliação volumétrica de defeitos ósseos em fissuras de rebordo alveolar e palato duro por meio da 3D-TC multislice e feixe cônico / Volumetric assessment of hard palate and alveolar cleft using multislice and cone beam 3DCT

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...

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...

Queilite angular traumática em eqüinos associada à ingestão de Panicum maximum / Angular cheilitis in horses associated with ingestion of Panicum maximum

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.

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.

Differential Parental Transmission of Markers in BCL3 among Korean Cleft Case-parent Trios / 예방의학회지

OBJECTIVES: Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell Leukemia/lymphoma 3 (BCL3) gene has been suggested as a candidate gene for CL/P based on association and linkage studies in some populations. This study tests for an association between markers in BCL3 and isolated, non-syndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. METHODS: Forty case-parent trios were genotyped for two single nucleotide polymorphisms (SNPs) in the BCL3 gene. We performed a transmission disequilibrium test (TDT) on individual SNPs, and the FAMHAP package was used to estimate haplotype frequencies and to test for excess transmission of multi-SNP haplotypes. RESULTS: The odds ratio for transmission of the minor allele, OR (transmission), was significant for SNP rs8100239 (OR=3.50, p=0.004) and rs2965169 (OR=2.08, p=0.027) when parent-of-origin was not considered. Parent-specific TDT revealed that SNP rs8100239 showed excess maternal transmission. Analysis of haplotypes of rs2965169 and rs8100239 also suggested excess maternal transmission. CONCLUSIONS: BCL3 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.