Abstract Objective: This study aimed to investigate non-alcoholic fatty liver disease (NAFLD) occurrence and factors associated with the disease in phenylketonuria (PKU) patients undergoing exclusive dietary treatment. Method: This cross-sectional study included 101 adolescents 10 to < 20 years of age with PKU, who were undergoing exclusive dietary treatment and monitored since early diagnosis at a single reference service. Anthropometric and biochemical assessments were performed and food intake was documented, and an ultrasound diagnosis of NAFLD was established. Data were evaluated using the Student’s t-test for continuous variables, the chi-square for categorical variables, and logistic regression using the Wald chi-squared test; differences with p < 0.05 were considered to be statistically significant. Results: NAFLD was detected in 26 (25.7%) teenagers. There was no difference in prevalence between the sexes or nutritional status. The final logistic regression model revealed low sensitivity (26.1%) and high specificity (94.7%). The specificity suggested a lower likelihood of NAFLD in older adolescents, in the presence of normal or high levels of alkaline phosphatase, lower carbohydrate intake, and adequate protein and lipid intake. Conclusions: The prevalence of NAFLD in adolescents with PKU was higher than that found in healthy Brazilian adolescents and similar to that found in obese Brazilian children, suggesting a higher risk for NAFLD in patients with PKU treated exclusively by dietary modification.

Abstract Objective: To estimate the prevalence and factors associated with overweight/obesity development in adolescents with early diagnosed phenylketonuria treated exclusively by diet. Methodology: In this cross-sectional study anthropometric measurements, serum phenylalanine levels, and 10 metabolites associated with lipid and carbohydrate metabolism were analyzed in 101 adolescents aged 10–20 years. Adolescents were categorized into overweight/obesity and eutrophic/low body mass index groups. These patients were compared using Student’s t-test, Pearson’s chi-square test, Wald’s chi-square test for multivariate analysis. Further, to verify whether the prevalence of overweight/obesity found in the study population was similar to that in the general population, the authors compared the nutritional status of 46 patients aged 13–17 years with that of healthy students of the same age from the National School Health Survey using the chi-square test for adherence. The significance threshold was p < 0.5. Results: The prevalence of overweight/obesity in adolescents was 27.7%. There was no difference in prevalence between sexes. Older age was a protective factor and Increased Homeostasis Model Assessment Insulin Resistance index and high phenylalanine and low-density lipoprotein cholesterol levels were predictive factors for overweight/obesity. The equality hypothesis was not rejected in the comparison of nutritional states of 46 patients aged 13–17 years and healthy students of the same age. Conclusion: The prevalence of overweight/obesity in phenylketonuria adolescents was similar to what is found in healthy adolescents.

Abstract Fibre reinforcement is considered a good alternative for improving the geotechnical properties of soil. However, studies that investigate its behaviour, accounting for the unsaturated condition, and the hydraulic behaviour of soil mixtures with fibre, are limited. Therefore, the current study evaluates the impact of the inclusion of polypropylene fibres on the hydraulic behaviour of soil through geotechnical characterisation, scanning electron microscopy (SEM), macroporosity and microporosity tests, and filter paper tests. The soil-water characteristic curve (SWCC) of different mixtures of fibre-reinforced soil was adjusted by the models enshrined in the literature, using polypropylene fibres of length 6 mm, diameter 18 μm, and fibre contents 0.25% (SF025), 0.75% (SF075), 1.0% (SF100), and 1.25% (SF125) relative to the dry weight of the soil. The results indicated a transition from unimodal to bimodal shape in the SWCC for the polypropylene fibre-reinforcement, suggesting that their inclusion altered the soil structure. The same bimodal behaviour of SWCC was observed in all reinforced samples that produced similar values of air-entry suction and residual volumetric water content, but with increased water retention for the same level of suction for higher fibre content. The results of the tension table test indicated an increase in the volume of macropores with an increase in fibre content and a decrease in micropore volumes. These results agree with the compaction tests, which showed a decrease in the dry maximum density with an increased fibre content, whereas the optimum water content increased.

Abstract The Expander Body pile (EB) is a combination of a cast-in-situ pile method with an inflated, pump-grouted tip. The EB system's pioneering conjunction with the conventional drilling pile technique has improved work load, foundation security, cost reductions and abrupt displacements in lateritic, porous, unsaturated soils. The aim of this article is to analyze settlement estimates of bored piles equipped with the Expander Body System on tropical lateritic soil, using a deformability modulus obtained from laboratory and field tests. The piles were subjected to compression and uplift load tests. In addition, the estimates of the pile settlement are compared with the measured values, and the findings are discussed. The results strongly support that PMT and SPT tests present the optimal ratios between the measured and estimated settlements for both bored piles and bored piles with the Expander Body System. It can also be observed that CPT tests presented reasonable estimates for tensioned piles. Ultimately, it is verified that straightforward elastic models for the settlement assessment of bored piles can be used reliably in practice for piles equipped with the Expander Body System on tropical unsaturated soils.

Resumo Objetivos Apresentar a prevalência geral e caracterizar as deficiências de tetrahidrobiopterina - BH4 - com hiperfenilalaninemia, identificadas pelo Programa de Triagem Neonatal do Estadode Minas Gerais. Métodos Estudo descritivo de pacientes com deficiência de BH4 do Programa de Triagem Neonatal do Estado de Minas Gerais. Resultados A prevalência encontrada foi de 2,1 para 1.000.000 recém-nascidos vivos e a frequência de 1,71%, dentre as hiperfenilalaninemias. Quatro casos (40%) com deficiência de 6-piruvoil-tetrahidropterina sintase, três com deficiência de GTP ciclohidrolase I e três com deficiência de dihidropteridina redutase (30% cada um). Seis pacientes foram diagnosticadospor suspeita clínica e quatro pela pesquisa sistemática na triagem neonatal. Após o início do tratamento, os pacientes identificados pela triagem neonatal tiveram melhora rápida e melhor desenvolvimento neuropsicomotor em comparação com aqueles diagnosticados pela história clínica. Conclusões A prevalência das deficiências de BH4 em Minas Gerais foi um pouco maior que a encontrada na literatura, mas a frequência, entre as hiperfenilalaninemias, foi semelhante. Embora raras, são graves e, se não tratadas, levam a atraso de desenvolvimento, movimentos anormais, convulsões e morte precoce. O tratamento precoce (início antes dos 5 meses) mostrou bons resultados na prevenção de deficiência intelectual, justificando a pesquisa dessas deficiências nos recém-nascidos com hiperfenilalaninemia pelos programas de triagem neonatalpara fenilcetonúria.

Abstract Objectives To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais. Methods Descriptive study of patients with BH4 deficiency identified by the Neonatal Screening Program of the State of Minas Gerais. Results The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase deficiency, three with GTP cyclohydrolase I - autosomal recessive form deficiency, and three with dihydropteridine reductase deficiency (30% each). Six patients were diagnosed due to clinical suspicion and four cases due to systematic screening in neonatal screening. After the start of the treatment, patients identified by neonatal screening had rapid improvement and improved neuropsychomotor development compared to those diagnosed by the medical history. Conclusions The prevalence of BH4 deficiencies in Minas Gerais was slightly higher than that found in the literature, but the frequency among hyperphenylalaninemias was similar. Although rare, they are severe diseases and, if left untreated, lead to developmental delays, abnormal movements, seizures, and premature death. Early treatment onset (starting before 5 months of age) showed good results in preventing intellectual disability, justifying the screening of these deficiencies in newborns with hyperphenylalaninemia identified at the neonatal screening programs for phenylketonuria.

Resumo Objetivo A gastrosquise é uma malformação da parede abdominal que resulta em evisceração congênita e requer tratamento intensivo neonatal, correção cirúrgica precoce e nutrição parenteral. Investigaram-se neste estudo os recém-nascidos com gastrosquise e procurou-se correlacionar as suas características nutricionais com o tempo da internação hospitalar. Métodos Estudo de coorte retrospectivo de 49 recém-nascidos submetidos à correção primária de gastrosquise de janeiro de 1995 a dezembro de 2010. As características dos neonatos foram descritas com ênfase nos aspectos nutricionais e relacionadas com o tempo de internação hospitalar. Resultados As características que influenciaram a duração da internação foram: 1) recém-nascidos pequenos para a idade gestacional (PIG); 2) uso de antibióticos; 3) dia de vida ao iniciar a dieta enteral; 4) dia de vida ao atingir a dieta plena. Recém-nascidos PIG tiveram maior tempo de internação (24,2%) do que demais neonatos. O tempo de internação foi aumentado em 2,1% para cada dia a mais que se demorou a introduzir a dieta enteral. Entretanto, atingir mais lentamente o aporte pleno da dieta enteral agiu como fator protetor, diminuiu 3,6% no tempo de internação. O volume de resíduo drenado pelo cateter gástrico, nas últimas 24 horas antes do início da dieta enteral, não apresentou correlação com o momento da introdução da dieta nem com a duração da hospitalização. Conclusão Iniciar a dieta enteral precocemente, com aumento gradativo em pequenos volumes, pode abreviar a duração da nutrição parenteral. Esse manejo contribui para a diminuição da incidência de infecções e do tempo de hospitalização de recém-nascidos com gastrosquise.

Abstract 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.

A síndrome de Wolf-Hirschhorn (WHS) é uma condição genética caracterizada por anomalias craniofaciais e sistêmicas, causada por deleção cromossômica na região 4p. Paciente de 3 meses de idade, gênero feminino, foi encaminhada para avaliação de fissura de lábio e fissura palatina, associada a uma síndrome não diagnosticada. A paciente apresentava-se com hipotonia, baixa estatura, malformação cardíaca, clitóris hipertrofiado e implantação atípica do polegar nas duas mãos. Microcefalia, baixa implantação da orelha, glabela proeminente, inclinação baixa das fissuras palpebrais, aparência característica de capacete de guerreiro grego, micrognatia, fossetas em orelhas, fissura labial bilateral incompleta e fissura palatina incompleta foram observadas como características craniofaciais. Com um diagnóstico clínico de WHS, foi realizado o cariótipo, que mostrou a deleção 4p15.2, consistente com a condição. Esse relato de caso apresenta um caso de WHS, com uma fissura oral incomum, ampliando o espectro fenotípico da doença. A paciente foi encaminhada a tratamento com equipe multidisciplinar para correção cirúrgica da fissura labial e palatina. Encontra-se em acompanhamento médico bem como odontológico, fisioterapêutico e em terapia ocupacional e psicológica. Uma correlação entre genótipo e fenótipo pode ser observada nesse relato da síndrome de WHS.

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.

OBJETIVO: Determinar marcadores bioquímicos da síndrome metabólica em pacientes com PKU. MÉTODOS: Foram avaliados dois grupos de pacientes com PKU, de quatro a 15 anos, com excesso de peso (29) e eutróficos (29). As variáveis bioquímicas avaliadas foram fenilalanina (phe), colesterol total, HDL-c, triglicérides, glicose e insulina basal. Foi determinado o Homa e mensurada a circunferência da cintura. RESULTADOS: As concentrações de phe, de colesterol total e de glicose foram equivalentes entre os grupos. Os pacientes com excesso de peso apresentaram maiores concentrações de triglicérides, de insulina basal, maiores valores da determinação do Homa, menores concentrações de HDL colesterol e valores mais elevados da relação do colesterol total/HDL-c. Houve correlação positiva entre a dosagem de insulina basal e do Homa com a circunferência da cintura nos pacientes do grupo com excesso de peso. CONCLUSÕES: Os resultados deste estudo sugerem que pacientes com PKU e excesso de peso são potencialmente vulneráveis ao desenvolvimento da síndrome metabólica. Há, portanto, necessidade de acompanhamento clínico-laboratorial que previna as alterações metabólicas, o ganho excessivo de peso e as suas consequências, em especial o risco cardiovascular.

OBJECTIVE: This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). METHODS: 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. RESULTS: 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. CONCLUSION: The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk.

OBJETIVO: Avaliar a ingestão alimentar e o estado nutricional em selênio em pacientes com fenilcetonúria. MÉTODOS: Foram avaliados prospectivamente 54 crianças com fenilcetonúria, entre 4 e 10 anos de idade. O estudo foi realizado antes e após o uso de mistura de aminoácidos complementada com selênio. A segunda fase do estudo foi realizada com, no mínimo, 90 dias de utilização da mistura complementada. O estado nutricional em selênio foi avaliado por meio da análise de parâmetros bioquímicos: dosagens séricas de selênio e tiroxina livre e dosagem de glutationa peroxidase no eritrócito. A ingestão alimentar de selênio foi avaliada por aplicação de Questionário de Frequência Alimentar Quantitativo. RESULTADOS: A idade média das crianças foi de 7,0±1,8 anos, e 35,2% eram do sexo feminino. O tempo médio de complementação de selênio, em fórmula especial, foi de 122,2±25,1 dias. A mistura de aminoácidos complementada com o mineral representou 72,9% da oferta diária de selênio. Após a complementação, as concentrações médias de selênio sérico e de glutationa peroxidase no eritrócito apresentaram aumento significativo (p < 0,05). A ingestão média diária de selênio aumentou significativamente (p < 0,001), alcançando o recomendado pela Ingestão Dietética de Referência. A concentração de tiroxina livre, no soro, apresentou redução significativa (p < 0,001) em todos os pacientes na segunda fase do estudo, tendo retornado aos limites da normalidade naqueles em que estava alterada. CONCLUSÃO: A complementação de selênio por meio de substituto proteico é eficaz para melhorar e adequar o estado nutricional de selênio em pacientes com fenilcetonúria.

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.

OBJETIVOS: Avaliar inteligência e relação com concentrações sanguíneas de fenilalanina e condição socioeconômica de fenilcetonúricos entre 6 e 12 anos em tratamento. MÉTODOS: Sessenta e três crianças, classificadas por níveis de fenilalanina e condição socioeconômica, realizaram Wechsler Intelligence Scale for Children. Utilizou-se o programa Statistical Package for the Social Sciences (SPSS) para analisar níveis de fenilalanina; testes ANOVA para avaliar quociente de inteligência (QI) e níveis de fenilalanina; e regressão logística ordinal para avaliar chances de melhor desempenho em QI. RESULTADOS: Classificaram-se entre limítrofe e nível muito superior em QI total, 90,5% das crianças; em QI verbal, 96,8%; em QI de execução, 92,1%. Tiveram avaliação socioeconômica entre níveis baixo e médio superior, 98,4% das famílias. As chances de apresentar QI superior e médio foram 4,29 vezes maiores nas crianças com controle adequado e 4,03 vezes maiores nas de níveis socioeconômicos melhores. CONCLUSÕES: O tratamento preveniu o retardo mental em 90,5% dos pacientes. O controle dos níveis de fenilalanina e melhor nível socioeconômico se associaram aos melhores desempenhos em QI.

OBJECTIVES: To assess intelligence and its relationship with blood phenylalanine concentrations and socioeconomic status in patients with phenylketonuria after 6 to 12 years of treatment. METHODS: Sixty-three children were classified according to phenylalanine levels and socioeconomic status and assessed using the Wechsler Intelligence Scale for Children. The Statistical Package for the Social Sciences (SPSS) was used to analyze phenylalanine; ANOVA was used to analyze intelligence quotients (IQ) and phenylalanine levels; and ordinal logistic regression was used to analyze the likelihood of higher IQ. RESULTS: The overall IQ scores of 90.5% of the children were within a range from borderline intellectual deficiency to very high intelligence; for verbal IQ this proportion was 96.8% and 92.1% had performance IQ scores within this band. The categories from low to upper-medium socioeconomic status contained 98.4% of patients' families. The likelihood of having medium to high IQ was 4.29 times greater for children with good phenylalanine control and 4.03 greater for those from higher socioeconomic strata. CONCLUSIONS: Treatment prevented mental retardation in 90.5% of the patients. Control of phenylalanine levels and higher socioeconomic status were associated with higher IQ scores.

OBJETIVO: O objetivo deste estudo foi avaliar a ingestão de calorias, fenilalanina, tirosina e proteína de lactentes com fenilcetonúria em uso de aleitamento materno. MÉTODOS: Um grupo de 39 crianças, com até 6 meses de idade, que fazia uso de aleitamento materno (grupo amamentado) foi comparado a um grupo-controle que fazia uso de fórmula especial com baixo teor de fenilanina, por meio de um estudo de coorte histórico concorrente. Os grupos foram pareados por sexo e duração da amamentação. Foram revistos 719 recordatórios alimentares de pacientes do grupo amamentado e 628 do grupo-controle. Foi realizada avaliação antropométrica no início e no final do estudo. A análise da ingestão de nutrientes foi feita com a utilização dos programas Minitab e LogXact 4.0, e a avaliação antropométrica foi feita com a utilização do programa Epi Info 6.0. RESULTADOS: O grupo amamentado apresentou ingestão adequada de fenilalanina e tirosina e maior adequação de ingestão proteica e energética. A maioria das crianças dos dois grupos apresentou escore-Z dentro dos limites normais (Z ³-2), com evolução favorável dos indicadores estudados (peso/idade, estatura/idade, peso/estatura e perímetro cefálico). CONCLUSÃO: O aleitamento materno na fenilcetonúria proporcionou ingestão adequada de calorias, fenilalanina, tirosina e proteína. A chance de uma criança do grupo amamentado possuir recordatórios de 24h adequados de ingestão energética foi 10,64 vezes maior que a chance de uma criança do grupo-controle. Em relação à ingestão proteica a chance foi 5,34 vezes maior. O crescimento foi similar nos dois grupos.

OBJECTIVE: This study aimed to assess energy, phenylalanine, tyrosine and protein intakes of breastfed infants with phenylketonuria (breastfed group). METHODS: A retrospective/prospective cohort study was used to compare a group of 39 breastfed infants aged 6 months or less (breastfed group) with a control group being fed a special low-phenylalanine formula. The groups were paired by gender and breastfeeding duration. A total of 719 dietary recalls of the breastfed group and 628 of the control group was reviewed. Anthropometric assessment was done at baseline and end of study. Nutrient intakes were calculated by the software Minitab and LogXact 4.0 and anthropometric assessment was done by the software Epi Info 6.0. RESULTS: The breastfed group presented adequate intake of phenylalanine and tyrosine and more adequate protein and energy intakes than the other group. Most infants, regardless of group, presented z-scores within the normal range (Z ³-2), with good progression of the studied indicators (weight-for-age, height-for-age, weight-for-height and head circumference). CONCLUSION: Breastfeeding of infants with phenylketonuria provided adequate energy, phenylalanine, tyrosine and protein intakes. The likelihood of a child in the breastfeed group to present adequate energy intake was 10.64 times higher than that of a child in the control group. In relation to protein intake, the chance was 5.34 times higher. Both groups presented similar growth.

Visando ao preparo de farinha de trigo com baixo teor de fenilalanina (Phe), extraiu-se, enzimaticamente as proteínas, empregando-se uma protease alcalina de Bacillus licheniformis. Em seguida, os extratos protéicos foram hidrolisados pela ação de enzimas comerciais (pancreatina e bromelina) e de extratos enzimáticos obtidos da casca de abacaxi (bruto e purificado), avaliando-se alguns parâmetros enzimáticos, tais como tipo de enzima, tipo de ação enzimática, tipo de associação enzimática e ordem de ação enzimática. O carvão ativado (CA) foi empregado como meio adsorvente e a eficiência da remoção de Phe foi avaliada por espectrofotometria derivada segunda, determinando-se o teor de Phe na farinha de trigo e em seus hidrolisados, após tratamento com CA. O melhor resultado foi encontrado ao se empregar a associação sucessiva do extrato bruto seguida da pancreatina, tendo atingido 66,28% de remoção e o teor final de Phe de 522,44 mg/100 g de hidrolisado.

With the aim of producing wheat flour with low phenylalanine (Phe) content to be introduced in phenylketonuric's diet, the proteins were enzymaticaly extracted, using an alkaline protease from Bacillus licheniformis. Then, the protein extracts were hydrolyzed by the action of commercial enzymes (pancreatin and bromelain) and of enzymatic extracts obtained from pineapple peel (crude and purified). Some enzymatic parameters were evaluated, such as type of enzyme, type of enzyme action, type of enzymatic association and order of enzyme action. The activated carbon (AC) was used as adsorbent and the efficiency of Phe removal was evaluated by second derivative spectrophotometry measuring the Phe content in wheat flour and in their hydrolysates after AC treatment. The best result was found for the successive association of crude extract followed by pancreatin obtaining 66.28% of removal and a final Phe content of 522.44 mg/100 g of hydrolysate.

OBJETIVO: Revisão da literatura para avaliar a situação da triagem neonatal no mundo e no Brasil. Definir o papel do pediatra nos programas de triagem neonatal. FONTES DOS DADOS: Artigos científicos selecionados por meio de pesquisa feita nos sites de busca médica MEDLINE, Cochrane, PubMed (MeSH) e MD Consult, usando as palavras-chave newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics e seus correspondentes em português de forma isolada e combinada, livros médicos sobre genética e erros inatos do metabolismo, publicados entre janeiro de 1998 e dezembro de 2007, manual de normas técnicas e rotinas do Programa Nacional de Triagem Neonatal, portaria 822/2001, do Ministério da Saúde. SÍNTESE DOS DADOS: Os dados da literatura mostram grande diversidade no número de doenças incluídas na triagem neonatal em cada país. No Brasil, foi criado o Programa Nacional de Triagem Neonatal em 2001, determinando a realização da triagem para fenilcetonúria, hipotireoidismo congênito, doença falciforme e fibrose cística. A triagem ampliada por espectrometria de massa é, hoje, motivo de controvérsias e discussões sobre questões financeiras e éticas. CONCLUSÕES: A triagem neonatal representa um dos principais avanços para a prevenção de doenças na pediatria. Entretanto, sua implantação é complexa, multidisciplinar, depende de políticas públicas de saúde e não há, até o momento, consenso sobre quais doenças devam ser incluídas. Diversas questões científicas e éticas precisam ser discutidas para melhor definição dos painéis a serem seguidos. O pediatra tem papel importante em todas as etapas dos programas de triagem neonatal.

OBJECTIVE: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. SOURCES: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. SUMMARY OF THE FINDINGS: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. CONCLUSIONS: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.

OBJETIVO: Estimar a prevalência e estudar apresentações clínicas e fatores associados às cardiopatias congênitas, diagnosticadas ao nascimento, entre agosto de 1990 e dezembro de 2003, na Maternidade do Hospital das Clínicas da Universidade Federal de Minas Gerais. MÉTODOS: Estudo retrospectivo, baseado no banco de dados, vinculado ao Estudo Colaborativo Latino-Americano de Malformações Congênitas. Foram identificados os recém-nascidos vivos (RNV) e natimortos (NM) com cardiopatias congênitas, diagnosticadas pelo ecocardiograma pós-natal ou necropsia. Entre os RNV, foram estudadas associações com peso ao nascer, gênero, idade e paridade materna. Para análise estatística, utilizou-se o teste do qui-quadrado de Pearson e regressão logística multinomial. RESULTADOS: No período, ocorreram 29.770 nascimentos (28.915 RNV e 855 NM). Entre os RNV, a prevalência das cardiopatias foi de 9,58:1.000 (277/28.915) e, entre NM, de 87,72:1.000 (75/855). A cardiopatia isolada ocorreu em 37,2% dos casos entre RNV e 18,7% entre NM; associada a anomalias de outros órgãos e sistemas sem diagnóstico sindrômico em 31,4% entre RNV e 48,0% entre NM; era componente de síndromes em 23,1% dos RNV e 32,0% dos NM. A análise multivariada mostrou associação entre cardiopatia e peso ao nascer £ 2.500 g em todas as formas de apresentações clínicas, entre idade materna ³ 35 anos nas cardiopatias componentes de síndromes e entre o gênero feminino nas cardiopatias isoladas. CONCLUSÕES: A prevalência encontrada foi alta, alertando para a importância médica das cardiopatias. Houve associação com peso ao nascer £ 2.500 g em todas as apresentações, com idade materna elevada nas cardiopatias sindrômicas e com o gênero feminino nas isoladas.

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 LB was 9.58:1,000 (277/28,915) while among SB the rate was 87.72:1,000 (75/855). Heart disease occurred isolated in 37.2% of LB cases and 18.7% of SB cases; was associated with anomalies of other organs and systems, but without a syndromic diagnosis in 31.4% of LB cases and 48.0% of SB cases; and in 23.1% of the LB cases and 32.0% of the SB cases the heart disease was a feature of a syndrome. Multivariate analysis demonstrated an association between heart disease and birth weight £ 2,500 g in all types of clinical presentation, between maternal age ³ 35 years and heart disease in syndromic heart disease and between female sex and isolated heart disease. CONCLUSIONS: It was found a high prevalence, which is an alert to the medical significance of heart disease. There was association between birth weight £ 2,500 g and all forms of presentation, between increased maternal age and syndromic heart disease besides between female sex and isolated congenital heart disease.