Marcos J B D Aguiar (original) (raw)

Papers by Marcos J B D Aguiar

Research paper thumbnail of Oral findings in Williams-Beuren syndrome

Medicina Oral Patología Oral y Cirugia Bucal, 2017

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterize... more Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life.

Research paper thumbnail of Jornal de Pediatria Copyright © 2008 by Sociedade Brasileira de Pediatria ORIGINALARTICLE

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 ...

Research paper thumbnail of High‐level mosaic monosomy 21 in a 13‐year‐old girl: Case report and review of the literature

American Journal of Medical Genetics Part A

Research paper thumbnail of A review of genetic syndromes associated with hypertrichosis

Revista da Associação Médica Brasileira

Research paper thumbnail of Breastfeeding in the treatment of children with phenylketonuria

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...

Research paper thumbnail of Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

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...

Research paper thumbnail of A New Heterozygous Mutation in FGFR2 Gene Causing Pfeiffer Syndrome

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Research paper thumbnail of A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome

American Journal of Medical Genetics Part A

Research paper thumbnail of BH 4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

Research paper thumbnail of Vitamin B 12 deficiency and phenylketonuria

Revista Médica de Minas Gerais, 2016

RESUMO A fenilcetonúria, doença metabólica hereditária, autossômica recessiva, é a mais frequente... more RESUMO A fenilcetonúria, doença metabólica hereditária, autossômica recessiva, é a mais frequente das aminoacidopatias. Quando não diagnosticada e tratada precocemente, causa retardo mental grave. Os programas de triagem neonatal transformaram a história natural dessa doença, possibilitando o diagnóstico neonatal e a instituição imediata do tratamento dietético. Atualmente, os pacientes com controle adequado têm vida normal. Nas últimas décadas, alterações nutricionais têm sido relacionadas ao tratamento dietético e aos seus desvios, especialmente após a primeira década de vida. Neste artigo apresenta-se o caso de um adolescente que desenvolveu anemia megaloblástica por deficiente ingestão de vitamina B12 e uma revisão da literatura sobre o tema.

Research paper thumbnail of Emprego do carvão ativado para a remoção de fenilalanina de leite em pó

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.

Research paper thumbnail of Iniencefalia em feto de 19 semanas

Rev Med Minas Gerais, Sep 1, 1993

Research paper thumbnail of Nutritional management and postoperative prognosis of newborns submitted to primary surgical repair of gastroschisis

Jornal de Pediatria, 2016

Objective: Gastroschisis is a defect of the abdominal wall, resulting in congenital evisceration ... more Objective: Gastroschisis is a defect of the abdominal wall, resulting in congenital evisceration and requiring neonatal intensive care, early surgical correction, and parenteral nutrition. This study evaluated newborns with gastroschisis, seeking to associate nutritional characteristics with time of hospital stay. Methods: This was a retrospective cohort study of 49 newborns undergoing primary repair of gastroschisis between January 1995 and December 2010. The newborns' characteristics were described with emphasis on nutritional aspects, correlating them with length of hospital stay. Results: The characteristics that influenced length of hospital stay were: (1) newborn small for gestational age (SGA); (2) use of antibiotics; (3) day of life when enteral feeding was started; (4) day of life when full diet was reached. SGA infants had longer length of hospital stay (24.2%) than other newborns. The length of hospital stay was increased by 2.1% for each additional day taken to introduce enteral feeding. However, slower onset of full enteral feeding acted as a protective factor, decreasing length of stay by 3.6%. The volume of waste drained by the stomach catheter in the 24 h prior the start of enteral feeding was not associated with the timing of diet introduction or length of hospital stay. Conclusion: Early start of enteral feeding and small, gradual increase of volume can shorten the use of parenteral nutrition. This management strategy contributes to reduce the incidence of infection and length of hospital stay of newborns with gastroschisis.

Research paper thumbnail of High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

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.

Research paper thumbnail of Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

Brazilian Dental Journal, 2015

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which ... more Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

Research paper thumbnail of Pfeiffer Syndrome: Clinical and Genetic Analysis of the Three Families

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2014

Research paper thumbnail of Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil

Journal of medical genetics, 1999

Research paper thumbnail of Metabolic syndrome in children and adolescents with phenylketonuria

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 ...

Research paper thumbnail of Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil

Jornal de Pediatria, 2012

Objective: To evaluate selenium dietary intake and nutritional status of patients with phenylketo... more Objective: To evaluate selenium dietary intake and nutritional status of patients with phenylketonuria. Methods: The study prospectively evaluated 54 children with phenylketonuria, from 4 to10 years old. The study was performed before and after the use of a selenium-supplemented amino acid mixture. The second phase of the study was performed after, at least, 90 days of use of the supplementation. Selenium nutritional status was assessed through the analysis of biochemical parameters: serum free thyroxin and selenium and glutathione peroxidase in erythrocytes. Selenium dietary intake was evaluated by the administration of the Food Frequency Questionnaire. Results: Mean age of the children was of 7.0±1.8 years, and 35.2% were female. Mean time of supplementation of selenium, on special formula, was 122.2±25.1 days. The selenium-supplemented amino acid mixture represented 72.9% of the daily supply of the mineral. Upon supplementation, mean concentrations of serum selenium and glutathione peroxidase in erythrocytes increased significantly (p < 0.05). The average daily intake of selenium increased significantly (p < 0.001), reaching the levels recommended by the Dietary Reference Intakes. The concentration of free thyroxin, in serum, presented significant reduction (p < 0.001) in all patients during the second phase of the study, and returned to normal limits in those who had changed levels. Conclusion: Selenium supplementation through protein replacement is effective to improve and adapt the nutritional status of selenium in patients with phenylketonuria.

Research paper thumbnail of Metabolic syndrome in children and adolescents with phenylketonuria

Jornal de Pediatria, 2015

Similarly, the prevalence rates in Europe and Canada have neither increased nor declined between ... more Similarly, the prevalence rates in Europe and Canada have neither increased nor declined between 2002 and 2010 but are in a state of high-level stagnation [3, 4]. Accordingly, data from the 'Kinderund Jugendgesundheitssurvey' (KiGGS) reveals that roughly 9% of children are overweight and 6% obese [5]. Compared to the data from the meta-analysis by Kromeyer-Hauschild et al. [6], this poses an increase in childhood overweight of 22% and in obesity of 100%. The current development is being determined by the ongoing KiGGS survey. Albeit emerging results may signify stagnation, it is indicative that even normal-weight children exhibit a higher body fat percentage [7]. This is relevant since possible comorbidity does not only increase in accordance with the calculative body mass index (BMI) but also with increased (visceral) body fat content. Even at that young age negative impacts due to cardiovascular disease risk factors such as hypertension, glucose intolerance, dyslipidemia, endothelial dysfunction, musculoskeletal disorder, and particularly psychological burdens such as depression, decreased quality of life, and so forth are prevalent [8, 9]. From the KiGGS data collective, Flechtner-Mors et al. [10] compared 63,025 overweight or obese children and adolescents to 14,298 participants that were of normal weight. The key findings are shown in table 1. This narrative review aims to compile data on prevalence, positive and negative influencing factors, and preventive strategies, paying special attention to movement therapy. Definition and Prevalence of the Metabolic Syndrome in Childhood and Adolescence Friend et al. [11] analyzed 85 papers on the prevalence of the metabolic syndrome (MetS), which can be understood as a culmination and combination of the abovementioned risk factors, by means of a systematic review. The article concludes that MetS occurs in 3.3% of the general population but 11.9% in overweight

Research paper thumbnail of Oral findings in Williams-Beuren syndrome

Medicina Oral Patología Oral y Cirugia Bucal, 2017

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterize... more Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life.

Research paper thumbnail of Jornal de Pediatria Copyright © 2008 by Sociedade Brasileira de Pediatria ORIGINALARTICLE

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 ...

Research paper thumbnail of High‐level mosaic monosomy 21 in a 13‐year‐old girl: Case report and review of the literature

American Journal of Medical Genetics Part A

Research paper thumbnail of A review of genetic syndromes associated with hypertrichosis

Revista da Associação Médica Brasileira

Research paper thumbnail of Breastfeeding in the treatment of children with phenylketonuria

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...

Research paper thumbnail of Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

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...

Research paper thumbnail of A New Heterozygous Mutation in FGFR2 Gene Causing Pfeiffer Syndrome

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Research paper thumbnail of A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome

American Journal of Medical Genetics Part A

Research paper thumbnail of BH 4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

Research paper thumbnail of Vitamin B 12 deficiency and phenylketonuria

Revista Médica de Minas Gerais, 2016

RESUMO A fenilcetonúria, doença metabólica hereditária, autossômica recessiva, é a mais frequente... more RESUMO A fenilcetonúria, doença metabólica hereditária, autossômica recessiva, é a mais frequente das aminoacidopatias. Quando não diagnosticada e tratada precocemente, causa retardo mental grave. Os programas de triagem neonatal transformaram a história natural dessa doença, possibilitando o diagnóstico neonatal e a instituição imediata do tratamento dietético. Atualmente, os pacientes com controle adequado têm vida normal. Nas últimas décadas, alterações nutricionais têm sido relacionadas ao tratamento dietético e aos seus desvios, especialmente após a primeira década de vida. Neste artigo apresenta-se o caso de um adolescente que desenvolveu anemia megaloblástica por deficiente ingestão de vitamina B12 e uma revisão da literatura sobre o tema.

Research paper thumbnail of Emprego do carvão ativado para a remoção de fenilalanina de leite em pó

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.

Research paper thumbnail of Iniencefalia em feto de 19 semanas

Rev Med Minas Gerais, Sep 1, 1993

Research paper thumbnail of Nutritional management and postoperative prognosis of newborns submitted to primary surgical repair of gastroschisis

Jornal de Pediatria, 2016

Objective: Gastroschisis is a defect of the abdominal wall, resulting in congenital evisceration ... more Objective: Gastroschisis is a defect of the abdominal wall, resulting in congenital evisceration and requiring neonatal intensive care, early surgical correction, and parenteral nutrition. This study evaluated newborns with gastroschisis, seeking to associate nutritional characteristics with time of hospital stay. Methods: This was a retrospective cohort study of 49 newborns undergoing primary repair of gastroschisis between January 1995 and December 2010. The newborns' characteristics were described with emphasis on nutritional aspects, correlating them with length of hospital stay. Results: The characteristics that influenced length of hospital stay were: (1) newborn small for gestational age (SGA); (2) use of antibiotics; (3) day of life when enteral feeding was started; (4) day of life when full diet was reached. SGA infants had longer length of hospital stay (24.2%) than other newborns. The length of hospital stay was increased by 2.1% for each additional day taken to introduce enteral feeding. However, slower onset of full enteral feeding acted as a protective factor, decreasing length of stay by 3.6%. The volume of waste drained by the stomach catheter in the 24 h prior the start of enteral feeding was not associated with the timing of diet introduction or length of hospital stay. Conclusion: Early start of enteral feeding and small, gradual increase of volume can shorten the use of parenteral nutrition. This management strategy contributes to reduce the incidence of infection and length of hospital stay of newborns with gastroschisis.

Research paper thumbnail of High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

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.

Research paper thumbnail of Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

Brazilian Dental Journal, 2015

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which ... more Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

Research paper thumbnail of Pfeiffer Syndrome: Clinical and Genetic Analysis of the Three Families

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2014

Research paper thumbnail of Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil

Journal of medical genetics, 1999

Research paper thumbnail of Metabolic syndrome in children and adolescents with phenylketonuria

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 ...

Research paper thumbnail of Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil

Jornal de Pediatria, 2012

Objective: To evaluate selenium dietary intake and nutritional status of patients with phenylketo... more Objective: To evaluate selenium dietary intake and nutritional status of patients with phenylketonuria. Methods: The study prospectively evaluated 54 children with phenylketonuria, from 4 to10 years old. The study was performed before and after the use of a selenium-supplemented amino acid mixture. The second phase of the study was performed after, at least, 90 days of use of the supplementation. Selenium nutritional status was assessed through the analysis of biochemical parameters: serum free thyroxin and selenium and glutathione peroxidase in erythrocytes. Selenium dietary intake was evaluated by the administration of the Food Frequency Questionnaire. Results: Mean age of the children was of 7.0±1.8 years, and 35.2% were female. Mean time of supplementation of selenium, on special formula, was 122.2±25.1 days. The selenium-supplemented amino acid mixture represented 72.9% of the daily supply of the mineral. Upon supplementation, mean concentrations of serum selenium and glutathione peroxidase in erythrocytes increased significantly (p < 0.05). The average daily intake of selenium increased significantly (p < 0.001), reaching the levels recommended by the Dietary Reference Intakes. The concentration of free thyroxin, in serum, presented significant reduction (p < 0.001) in all patients during the second phase of the study, and returned to normal limits in those who had changed levels. Conclusion: Selenium supplementation through protein replacement is effective to improve and adapt the nutritional status of selenium in patients with phenylketonuria.

Research paper thumbnail of Metabolic syndrome in children and adolescents with phenylketonuria

Jornal de Pediatria, 2015

Similarly, the prevalence rates in Europe and Canada have neither increased nor declined between ... more Similarly, the prevalence rates in Europe and Canada have neither increased nor declined between 2002 and 2010 but are in a state of high-level stagnation [3, 4]. Accordingly, data from the 'Kinderund Jugendgesundheitssurvey' (KiGGS) reveals that roughly 9% of children are overweight and 6% obese [5]. Compared to the data from the meta-analysis by Kromeyer-Hauschild et al. [6], this poses an increase in childhood overweight of 22% and in obesity of 100%. The current development is being determined by the ongoing KiGGS survey. Albeit emerging results may signify stagnation, it is indicative that even normal-weight children exhibit a higher body fat percentage [7]. This is relevant since possible comorbidity does not only increase in accordance with the calculative body mass index (BMI) but also with increased (visceral) body fat content. Even at that young age negative impacts due to cardiovascular disease risk factors such as hypertension, glucose intolerance, dyslipidemia, endothelial dysfunction, musculoskeletal disorder, and particularly psychological burdens such as depression, decreased quality of life, and so forth are prevalent [8, 9]. From the KiGGS data collective, Flechtner-Mors et al. [10] compared 63,025 overweight or obese children and adolescents to 14,298 participants that were of normal weight. The key findings are shown in table 1. This narrative review aims to compile data on prevalence, positive and negative influencing factors, and preventive strategies, paying special attention to movement therapy. Definition and Prevalence of the Metabolic Syndrome in Childhood and Adolescence Friend et al. [11] analyzed 85 papers on the prevalence of the metabolic syndrome (MetS), which can be understood as a culmination and combination of the abovementioned risk factors, by means of a systematic review. The article concludes that MetS occurs in 3.3% of the general population but 11.9% in overweight