Papers by Marcos J B D Aguiar
Medicina Oral Patología Oral y Cirugia Bucal, 2017
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Objective: To estimate the prevalence rate and study the clinical presentation and associated fac... more Objective: To estimate the prevalence rate and study the clinical presentation and associated factors of congenital heart diseases diagnosed at birth between August 1990 and December 2003, at the Maternity Unit of the Hospital das Clínicas, Universidade Federal de Minas Gerais, Brazil. Methods: A retrospective, database driven study, part of the Latin-American collaborative study of congenital malformations. Records were reviewed on all live born (LB) and stillborn (SB) infants with congenital heart diseases diagnosed by postnatal echocardiogram or by autopsy. Data on birth weight, sex, age and parity were collected for the LB and studied for associations. The statistical analysis employed Pearson’s chi-square test and multinomial logistic regression. Results: During the period studied there were 29,770 births (28,915 LB and 855 SB). The prevalence of heart disease among the LBwas9.58:1,000 (277/28,915)while amongSB the ratewas87.72:1,000 (75/855).Heart disease occurred isolated in ...
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American Journal of Medical Genetics Part A
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Revista da Associação Médica Brasileira
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Breastfeeding in the treatment of children with phenylketonuria Jornal de Pediatria, vol. 83, núm... more Breastfeeding in the treatment of children with phenylketonuria Jornal de Pediatria, vol. 83, núm. 5, septiembre-octubre, 2007, pp. 447-452 Sociedade Brasileira de Pediatria Porto Alegre, Brasil Objective: To evaluate the effect of breastmilk as a source of phenylalanine (phe) on levels of this amino acid and on growth in phenylketonuric infants. Methods: The study recruited 35 breastfed phenylketonuric infants and compared their results with those of 35 infants fed on commercial, milk-based formula. The groups were paired for sex and age at weaning from breastfeeding. Data were analyzed up until cessation of breastmilk or for 12 months' follow-up. The breastfed group were given a "special formula" free of phe, by bottle every 3 hours, and breastmilk at will during the intervals. Levels of phe in the blood, collected weekly up to 6 months and fortnightly up to 1 year de age, were analyzed while breastfeeding continued. The two groups were compared in terms of the time...
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Brazilian Journal of Medical and Biological Research, 2010
The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly ... more The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly varied ethnic composition of the population. The average frequency of the F508del mutation has been reported to be 48.6%. Other common mutations in Brazil are G542X, R1162X, and N1303K. The aim of this study was to analyze the frequency of 8 mutations (F508del, G542X, R1162X, N1303K, W1282X, G85E, 3120+1G>A, and 711+1G>T) in a sample of 111 newborn patients with cystic fibrosis diagnosed by the Cystic Fibrosis Neonatal Screening Program of Minas Gerais State. The mutations were tested by allele-specific oligonucleotide PCR with specially designed primers. An allele frequency of 48.2% was observed for the F508del mutation, and allele frequencies of 5.41, 4.50, 4.05, and 3.60% were found for the R1162X, G542X, 3120+1G>A, and G85E mutations, respectively. The genotypes obtained were in Hardy-Weinberg equilibrium. These data demonstrate that the 8-mutation panel studied here has ext...
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Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
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American Journal of Medical Genetics Part A
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Jornal de Pediatria
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Revista Médica de Minas Gerais, 2016
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Bol Centro Pesqui Process Aliment, Jun 1, 2004
Visando o desenvolvimento de formulações dietéticas especiais para fenilcetonúricos foram prepara... more Visando o desenvolvimento de formulações dietéticas especiais para fenilcetonúricos foram preparados cinco hidrolisados enzimáticos de leite em pó desnatado com papaína (PA) e pepsina (PE), isoladamente ou em associação com a protease do Aspergillus oryzae (AO). O carvão ativado foi utilizado para remover a fenilalanina (Phe) dos hidrolisados, sendo testados os tratamentos em béquer e em coluna. O tratamento em coluna por corrida direta em seringa de 20 mL, utilizando o carvão hidratado na quantidade de 90 g/g de caseína, foi a condição escolhida para a remoção de Phe dos hidrolisados enzimáticos de leite em pó desnatado. A ação isolada da PA e da PE, e a associação de PA com AO resultaram nos maiores percentuais de remoção de Phe (97% a 98%). A espectrofotometria derivada de segunda ordem permitiu avaliar a eficiência da remoção de fenilalanina. UTILIZATION OF ACTIVATED CARBON FOR THE REMOVAL OF PHENYLALANINE FROM SKIM MILK POWDER Aiming the development of special dietetic formulations for phenylketonuria, five enzymatic hydrolysates from skim milk powder were prepared, using papain (PA) and pepsin (PE), separately or in association with protease from Aspergillus oryzae (AO). The activated carbon was used to remove phenylalanine (Phe) from hydrolysates being tested the treatments in Beaker and in column. The treatment in column by direct passage, in 20 mL syringe, using 90 g of hydrated carbon/g of casein, was the chosen condition for Phe removal from skim milk powder hydrolysates. The isolated action of PA and PE, and the association of PA with AO produced the highest Phe removal (97 to 98%). The second derivative spectrophotometry allowed to estimate the efficiency of Phe removal.
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Rev Med Minas Gerais, Sep 1, 1993
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Jornal de Pediatria, 2016
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JIMD Reports, 2015
To assess the incidence of biotinidase deficiency among newborns and their clinical outcome up to... more To assess the incidence of biotinidase deficiency among newborns and their clinical outcome up to one year of age in a large pilot screening study in Minas Gerais, Brazil. A prospective cohort study was conducted from September 2007 to June 2008 with heel-prick blood samples collected on filter paper for the purpose of newborn screening. A qualitative colorimetric test was used as the primary screening method. Colorimetric-positive cases were further tested with a serum confirmatory assay. Gene sequencing was performed for eight children suspected with biotinidase deficiency and for some of their parents. Positive cases were daily supplemented with oral biotin and were followed up for approximately six years. Out of 182,891 newborns screened, 129 were suspected of having biotinidase deficiency. Partial deficiency was confirmed in seven children (one was homozygous for p.D543E) and profound deficiency in one child (homozygous p.H485Q). Thus the incidence was one in 22,861 live births (95% confidence interval 1:13,503 to 1:74,454) for profound and partial biotinidase deficiency combined. Two novel mutations were detected: p.A281V and p.E177K. In silico analysis and estimation of the enzyme activity in the children and their parents showed that p.A281V is pathogenic and p.E177K behaves like p.D444H. The incidence of biotinidase deficiency in newborn screening in Minas Gerais was higher than several international studies. The sample size should be larger for final conclusions. Oral daily biotin apparently precluded clinical symptoms, but it may have been unnecessary in some newborns.
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Brazilian Dental Journal, 2015
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Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2014
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Journal of medical genetics, 1999
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Jornal de pediatria
This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria ... more This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA) and waist circumference assessed. No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group. The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development ...
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Jornal de Pediatria, 2012
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Jornal de Pediatria, 2015
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Papers by Marcos J B D Aguiar