Identification of genomic imbalances in oral clefts

Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defect, regardless of the number of minor signs (syndromic oral clefts [SOCs]). The exclusion criteria included NSOC with less than four minor signs, SOC with known etiology, as well as atypical oral clefts. Results Of 1647 individuals with OC recorded in the Brazilian Database of Craniofacial Anomalies, 100 individuals were selected for chromosome microarray analysis (CMA). Among these, 44 individuals were clinically classified as NSOC and 56 as SOC. CMA was performed for both groups, and abnormal CMA was identified in 9%, all previously classified as SCO. The clinical and CMA data analyses showed a significant predominance of abnormal CMA in individuals classified as SOC (p = 0.0044); prematurity, weight, length, and head circumference at birth were significantly lower in the group with abnormal CMA. Besides, minor signs were significantly higher in this group (p = 0.0090). Conclusion The rigorous selection of cases indicates that the significant variables could help in early recognition of SOC. This study reinforces the importance of applying the CMA technique to establish the diagnosis of SOC. This is an important and universal issue in clinical practice for intervention, care, and genetic counseling.

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.

Perfil eletroforético de proteínas plasmáticas: estudo em crianças atendidas no Hospital de Pediatria - HOSPED/UFRN da cidade de Natal - RN / Electrophoretic profile of plasmatic proteins: study in children asssisted at the pediatric hospital - HOSPED/UFRN in Natal city

A eletroforese de proteínas permite qualificar e quantificar as proteínas séricas, auxiliando no diagnóstico e controle das alterações patológicas. Este trabalho objetiva estudar o perfil eletroforético das proteínas séricas das crianças atendidas no Hospitalde Pediatria (HOSPED/UFRN) e auxiliar no diagnóstico de patologias decorrentes de insuficiência/disfunção protéica. Foram coletadas amostras de sangue de 98 crianças atendidas no HOSPED, na faixa etária compreendida de 1 dia a 15 anos, e encaminhadas aoLaboratório de Bioquímica Clínica do DACT/CCS, onde se realizou a eletroforese de proteína em suporte de acetato de celulose, posteriormente quantificadas por Densitometria. As amostras avaliadas apresentaram um perfil eletroforético bem definido quanto à separaçãodas frações protéicas albumina, alfa 1, alfa 2, beta e gama globulina. Observou-se que 51 pacientes (52,04%) enquadaramse no Grupo I - processo inflamatório agudo, 32 pacientes (32,66%) no Grupo II - processo crônico e 11 pacientes do Grupo III (11,22%)apresentaram valores normais no padrão eletroforético analisado. Em outros 4 pacientes, observou-se situações isoladas com níveis diminuídos das frações alfa 1 e alfa 2 globulinas, da fração albumínica, ou aumento da fração beta. Estes resultados mostram um perfil preliminar das principais patologias que acometem a população estudada, sendo estes relevantes para monitoramento, auxílio e confirmação do diagnóstico das mesmas.

The electrophoresis of proteins allows to qualify and quantify seric proteins, helping out the diagnosis and control of pathologic alterations. This work aims to study the electrophoretic profile of serum proteins in children assisted at the Pediatric Hospital (HOSPED/UFRN) and aid in the diagnosis of pathologies origined by proteic insufficiency or disfuncion. It had been collected blood samples from children assisted at HOSPED, within the age range of 0 and 15 years of age, and guided to the Laboratory of Clinical Bioquemistry of DACT/CCS, where the electrophoresis of proteins took place in celulosis acetate support, later quantified by Desintometry.The samples evaluated showed an electrophoretic profile well defined regarding the separation of proteic fractions albumin, alfa 1, alfa 2, beta and gama globulins. Among 98 analysed cases, 51 patients (52.04%) were included in G-I (acute inflamatory process), 32 patients (32.66%) in G-II (cronic process) and 11 patients included in G-III (11.22%) showed normal values in the electrophoretic pattern analysed. In other 4 patients, it was observed isolated situations with low levels of alfa 1 and alfa 2 globulins, albumin fraction, or increasing of beta fraction. These results show a preliminary profile of the main pathologies which assalt the studied population, these are relevant to the follow up and confirmation of the diagnosis.

Efeito do tamoxifeno no perfil das proteínas plasmáticas em condição de diabetes mellitus tipo 1 / Effect of tamoxifen on plasma proteins in diabetes mellitus type 1

OBJETIVO: Considerando-se que importantes avanços científicos têm sido obtidos através de estudos com Diabetes mellitus experimental, e que a ação do tamoxifeno em humanos permanece obscura, o presente trabalho objetiva acompanhar as modificações promovidas pelo diabetes e tamoxifeno no perfil eletroforético das proteínas plasmáticas. MÉTODOS: Foram utilizados 27 ratos fêmeas Wistar (180-220g peso corporal), divididos randomicamente em 5 grupos: C1 (n=3, receberam veículo), C2 (n=3, sem tratamento), T (n=5, tratados com tamoxifeno, 0,3mg/kg/dia), D (n=8, diabéticos experimentais por estreptozotocina, 45mg/Kg) e DT (n=8, diabéticos tratados com tamoxifeno). A eletroforese foi realizada em acetato de celulose, pH 8,6-8,8, cuba TECNOW, e as fitas foram coradas em Ponceau S. As proteínas totais foram determinadas pelo método do Biureto (Kit Labtest). Os proteinogramas foram obtidos em densitômetro BioSystems BTS-235. RESULTADOS: Albumina diminuiu progressivamente nos grupos T, D e DT; a fração a1 aumentou nos grupos T e DT; a fração a2 aumentou nos grupos T e D, havendo efeito aditivo no grupo DT; a fração b aumentou nos grupos T e D; a fração g aumentou nos grupos T, D e DT. CONCLUSÃO: Os resultados indicam uma resposta de fase aguda, com efeito aditivo do tamoxifeno e diabetes, sugerindo uma provável lesão hepática.