METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA.

OBJECTIVE: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period. METHODS: This cohort study collected retrospective data of 53 phenylketonuric children and adolescents. Data on family income, housing, and mother's age and schooling level were collected, and anthropometric measures of body composition and distribution were taken. All dosages of phenylalanine (Phe) from the last five years (2015-2019) were evaluated and classified regarding their adequacy (cutoffs: 0-12 years: 2-6 mg/dL; 12-19 years: 2-10 mg/dL). Adequate metabolic control was considered if ≥7%) of the dosages were within desired ranges. RESULTS: The mean (±standard deviation) age in the last year was 10.1±4.6 years. Most of them were under 12 years old (33/53; 62.3%) and had the classic form of the disease (39/53; 73.6%). Better metabolic control was observed among adolescents (68.4 versus 51.4%; p=0.019). Overweight was found in 9/53 (17%) and higher serum Phe levels (p<0.001) were found in this group of patients. Metabolic control with 70% or more Phe level adequacy decreased along with the arm muscle area (AMA) (ptendency=0.042), being 70.0% among those with low reserve (low AMA), and 18.5% among those with excessive reserve (high AMA). CONCLUSIONS: Adequate metabolic control was observed in most patients. The findings suggest that, in this sample, the levels of phenylalanine may be related to changes in body composition.

Metabolic control and body composition of children and adolescents with phenylketonuria / Controle metabólico e composição corporal de crianças e adolescentes com diagnóstico neonatal de fenilcetonúria

ABSTRACT Objective: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period. Methods: This cohort study collected retrospective data of 53 phenylketonuric children and adolescents. Data on family income, housing, and mother's age and schooling level were collected, and anthropometric measures of body composition and distribution were taken. All dosages of phenylalanine (Phe) from the last five years (2015-2019) were evaluated and classified regarding their adequacy (cutoffs: 0-12 years: 2-6 mg/dL; 12-19 years: 2-10 mg/dL). Adequate metabolic control was considered if ≥7%) of the dosages were within desired ranges. Results: The mean (±standard deviation) age in the last year was 10.1±4.6 years. Most of them were under 12 years old (33/53; 62.3%) and had the classic form of the disease (39/53; 73.6%). Better metabolic control was observed among adolescents (68.4 versus 51.4%; p=0.019). Overweight was found in 9/53 (17%) and higher serum Phe levels (p<0.001) were found in this group of patients. Metabolic control with 70% or more Phe level adequacy decreased along with the arm muscle area (AMA) (ptendency=0.042), being 70.0% among those with low reserve (low AMA), and 18.5% among those with excessive reserve (high AMA). Conclusions: Adequate metabolic control was observed in most patients. The findings suggest that, in this sample, the levels of phenylalanine may be related to changes in body composition.

RESUMO Objetivo: Caracterizar o controle metabólico e verificar se existe relação entre ele, variáveis socioeconômicas, demográficas e composição corporal de crianças e adolescentes com fenilcetonúria (FNC) diagnosticada no período neonatal. Métodos: Coorte com coleta retrospectiva de dados de 53 crianças e adolescentes fenilcetonúricos. Foram coletados dados de renda familiar, moradia, idade e escolaridade materna e realizaram-se medidas antropométricas de composição e distribuição corporal. Todas as dosagens de fenilalanina (Fal) dos últimos cinco anos (2015-2019) foram avaliadas e classificadas quanto à adequação (cortes: 0-12 anos: 2-6 mg/dL; 12-19 anos: 2-10 mg/dL). A proporção de dosagens adequadas ≥70% foi considerada como controle metabólico adequado. Resultados: A média (±desvio padrão) de idade, no último ano, foi de 10,1±4,6 anos. A maioria tinha menos de 12 anos (33/53; 62,3%) e apresentava a forma clássica da doença (39/53; 73,6%). Observou-se melhor controle metabólico entre os adolescentes (68,4 vs. 51,4%; p=0,019). Excesso de peso foi encontrado em 9/53 (17%) e maiores níveis séricos de Fal foram descritos nesse grupo (p<0,001). O percentual de controle metabólico com 70% ou mais de adequação dos níveis de Fal foi decrescente de acordo com a área muscular do braço (AMB; ptendência=0,042), sendo de 70% entre os de baixa reserva (AMB reduzida) e de 18,5% entre os com excesso (AMB elevada). Conclusões: Observou-se controle metabólico adequado na maioria dos avaliados e os achados sugerem que, nesta amostra, os níveis de fenilalanina podem estar relacionados com alterações da composição corporal.

Milk protein-based formulas containing different oils affect fatty acids balance in term infants: A randomized blinded crossover clinical trial.

BACKGROUND: Palm olein is used in infant formula fat blends in order to match the fatty acid profile of human milk. While the effects on fatty acid balance have been evaluated, the use of palm olein in combination with palm kernel oil and supplementation with docosahexaenoic acid (DHA) and arachidonic acid (ARA) has not been similarly assessed in infants. This study evaluated the effects of infant formulas containing different fat compositions on the balance of fat, fatty acids, and calcium. METHODS: In this randomized, crossover, double-blinded study, 33 healthy term infants (68-159 ± 3 days of age at enrollment) were fed two formulas for 14 days in a tolerance period, followed by a 4-day metabolic balance period in 17 of the male subjects. The study compared two commercially available milk-based powdered formulas in Brazil; the PALM formula contained palm olein (44%), kernel palm oil (21.7%), and canola oil (18.5%) as the predominant fats, whereas the NoPALM formula contained other fat sources. RESULTS: Fat absorption (%) was greater for NoPALM versus PALM-fed infants (96.55 and 95.50%, respectively; p = 0.023). The absorption percentage of palmitic acid (C16:0) did not differ significantly between formulas (p > 0.05), but this acid was excreted at significantly higher concentrations in the PALM (29.42 mg/kg/day) than in the NoPALM (12.28 mg/kg/day) formula groups. DHA and ARA absorption percentages were also higher in NoPALM-fed infants. Calcium absorption was higher in NoPALM-fed infants (58.00%) compared to those fed PALM (40.90%), but the difference was not significant (p = 0.104) when calcium intake was used as a covariate. However, calcium retention was higher in NoPALM-fed infants compared to that in PALM-fed infants with or without calcium intake as a covariate. Adverse events did not differ between groups (p > 0.05). CONCLUSIONS: The absorption of essential fatty acids was similar for both formulas; however, long-chain polyunsaturated fatty acids (DHA and ARA) were better absorbed from the NoPALM formula. Fat absorption and calcium retention were lower in term infants fed the PALM-based formula. CLINICAL TRIAL REGISTRATION: Clinicaltrial.gov # NCT00941564 .

Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service / Aleitamento materno e perfil antropométrico de crianças com doença falciforme acompanhadas em serviço de referência em triagem neonatal

OBJECTIVE: To study the breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). METHODS: A cross-sectional study of 357 children with SCD aged between 2 and 6 years, regularly followed at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and gender. RESULTS: The mean (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SCA (hemoglobin SS). The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-720.0) days respectively. Normal W/H children experienced EBR for a mean duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had had SCA (hemoglobin SS) and were older than 4 years of age. CONCLUSIONS: EBF time and weaning age were greater than that found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBF and later weaning were associated with improved anthropometric indicators.

OBJETIVO: Descrever a história de aleitamento materno (AM) e estado antropométrico de crianças com doença falciforme (DF). MÉTODOS: Estudo transversal com 357 crianças com hemoglobinopatias SS e SC de dois e seis anos, acompanhadas regularmente num Serviço de Referência em Triagem Neonatal (SRTN) entre novembro de 2007 e janeiro de 2009. O desfecho correspondeu ao estado antropométrico e as exposições foram: padrão do AM, tipo de hemoglobinopatia, faixa etária e sexo da criança. RESULTADOS: A média (DP) de idade observada foi de 3,7 (1,1) anos, 52,9% meninos e 53,5% com hemoglobinopatia SS. A prevalência de aleitamento materno exclusivo (AME) até o sexto mês foi de 31,5%, a mediana (p25-p75) do tempo de AME foi de 90 (24-180) dias e a mediana (p25-p75) da idade de desmame foi de 360 (90-720) dias. Crianças eutróficas em relação ao P/A tiveram o tempo de AME, em média, quase quatro vezes maior do que os desnutridos (p < 0,01), bem como foram desmamadas mais tarde (p < 0,05). O déficit de altura foi encontrado em 5% das crianças e todas as crianças com baixa estatura grave tinham hemoglobinopatia SS e mais de quatro anos. CONCLUSÕES: O tempo de AME e a idade de desmame foram superiores aos encontrados na literatura, possível efeito do acompanhamento multidisciplinar. A duração do AME e a idade mais tardia de desmame foram associadas a melhores indicadores antropométricos.

[Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service]. / Aleitamento materno e perfil antropométrico de crianças com doença falciforme acompanhadas em serviço de referência em triagem neonatal.

OBJECTIVE: To study breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). METHODS: A cross-sectional study of 357 children with SS and SC hemoglobinopathies aged between 2 and 6 years old receiving regular follow-up at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and sex. RESULTS: The average (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SS hemoglobinopathy. The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-20.0) days respectively. Normal W/H children experienced EBR for an average duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had SS hemoglobinopathy and were over 4 years of age. CONCLUSIONS: EBR time and weaning age were greater than found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBR and later weaning were associated with improved anthropometric indicators.

Avaliação do consumo alimentar de pacientes com mucopolissacaridose / Assessment of dietary intake of patients with mucopolysaccharidosis

Objetivos: Avaliar o consumo alimentar de crianças e adolescentes com mucopolissacaridose.Métodos: Série de casos de mucopolissacaridose acompanhados regularmente em um serviço de referência da cidade de Salvador, Bahia, no período de janeiro a abril de 2012. Foram considerados para inclusão pacientes de ambos os sexos, entre dois e 18 anos de idade, com ingestão alimentar por via oral, sem complicações clínicas. Foi aplicada anamnese estruturada contemplando informações socioeconômicas, clínicas e avaliação da ingestão alimentar. Dados de consumo alimentar foram obtidos através do recordatório alimentar de 24 horas e registro alimentar de três dias. Foram avaliadas as possíveis inadequações alimentares através das recomendações da Dietary Reference Intakes, 2005. Os dados foram tabulados no Epidata 3.1 e analisados no pacote estatístico R.Resultados: Foram estudados oito meninos e duas meninas, com idade mediana de 10 anos (intervalo interquartil 6,4 anos, mínima 3, máxima 16 anos). O tipo mais frequente da doença foi a mucopolissacaridose VI (60%). Seis pacientes necessitavam de auxílio para se alimentar, nove apresentaram baixa ingestão de calorias e seis apresentaram baixa ingestão de lipídios. Todos os pacientes apresentavam insuficiente ingestão de fibras e consumo adequado de carboidratos e proteínas. O consumo de todos os micronutrientes apresentou inadequação.Conclusões: Detectou-se alta frequência de inadequação no consumo alimentar de crianças e adolescentes com mucopolissacaridose. Algumas limitações osteoarticulares causadas pela doença acarretam problemas na ingestão de alimentos, tendo muitos pacientes necessidade de auxílio no ato de se alimentar. A conduta nutricional especializada poderá auxiliar na qualidade de vida e no prognóstico desses indivíduos...

AIMS: To assess the dietary intake of children and adolescents with mucopolysaccharidosis.METHODS: Series of cases of mucopolysaccharidosis regularly followed in a referral center in Salvador, Bahia state, Brazil, in January-April 2012. Patients of both sexes aged between 2 and 18 years with food intake by mouth and without clinical complications were considered to inclusion. Structured anamnesis was applied contemplating socioeconomic, clinical, and dietary intake information. The food consumption data were obtained from 24-hour dietary recall and food record of three days. Possible dietary inadequacies were evaluated facing the recommendations of the Dietary Reference Intakes, 2005. Data were tabulated in 3.1 Epidata and analyzed by the statistical package R.RESULTS: Eight boys and two girls, with a median age of 10 years (interquartile range 6.4 years, minimum 3, maximum 16 years) were studied. The most common type of the disease was Mucopolysaccharidosis VI (60 %) and less frequent mucopolysaccharidosis I (10%). Six patients needed assistance to feed, nine had low calorie intake, and six had low intake of lipids. All patients had insufficient intake of fiber and adequate intake of carbohydrates and proteins. The intake of all micronutrients had impairments.CONCLUSIONS: There was a high frequency of inadequate dietary intake in children and adolescents with mucopolysaccharidosis. Some osteoarticular limitations caused by the disease lead to problems in food intake, and many patients need assistance in the act of eating. A specialized nutritional intervention may assist in quality of life and prognosis of these individuals...

Calcium and fat metabolic balance, and gastrointestinal tolerance in term infants fed milk-based formulas with and without palm olein and palm kernel oils: a randomized blinded crossover study.

BACKGROUND: Effects of palm olein (POL) on calcium and fat metabolic balance and gastrointestinal (GI) tolerance have been clinically evaluated but its use in combination with palm kernel oil (PKO), and canola oil has not been similarly assessed in infants. METHODS: Calcium and fat balance and GI tolerance were evaluated in 33 healthy term infants (age = 68-159 d) in a randomized, double-blinded, 14 d crossover trial at a day care center in Salvador, Brazil; followed by a 4d hospital ward metabolic balance study in 17 of the male subjects. The study compared two commercially available milk-based powdered formulas in Brazil; one containing POL (44% of total fat), PKO (21.7%) and canola oil (18.5%) as predominant fats (PALM), and the other containing none (NoPALM). Occasional human milk (HM) supplementation was allowed at home. RESULTS: Formula and HM intakes, and growth were not different (p > 0.05). Calcium absorption (%) for infants fed NoPALM (58.8 ± 16.7%; means ± SD) was higher (p = 0.023) than those fed PALM (42.1 ± 19.2%), but was not significant (p = 0.104) when calcium intake was used as a covariate. Calcium intake was higher (p < 0.001) in NoPALM versus PALM fed infants. However, calcium retention (%) was higher in infants fed NoPALM compared to PALM with (p = 0.024) or without (p = 0.015) calcium intake as a covariate. Fat absorption (%) for NoPALM was greater than PALM fed infants (NoPALM = 96.9 ± 1.2 > PALM = 95.1 ± 1.5; p = 0.020 in Study Period I). Mean rank stool consistency was softer in infants fed NoPALM versus PALM (p < 0.001; metabolic period). Adverse events, spit-up/vomit, fussiness and gassiness were not different (p > 0.05). Formula acceptability was high and comparable for both formula feedings, regardless of HM supplementation. CONCLUSIONS: Term infants fed PALM based formula (containing palm olein, palm kernel and canola oils) demonstrated lower calcium retention and fat absorption, and less softer stool consistency versus infants fed NoPALM based formula. Study suggested formula fat differences may affect GI function in infants.

Suplementação de zinco e outros micronutrientes através do uso de sprinkles: impacto na ocorrência de doença diarreica e infecções respiratórias em crianças institucionalizadas / Zinc and other micronutrients supplementation through the use of sprinkles: impact on the occurrence of diarrhea and respiratory infections in institutionalized children

OBJETIVO: Avaliar a incidência de doenças diarreicas (DA) e infecção respiratória aguda (IRA) em crianças submetidas à suplementação de zinco e outros micronutrientes através dos sprinkles, bem como a aceitação destes pelos participantes. MÉTODO: Ensaio clínico, duplo cego, randomizado, realizado com 143 crianças institucionalizadas, saudáveis, de seis a 48 meses. As mesmas foram randomizadas em dois grupos e receberam diariamente zinco + micronutrientes - grupo teste (sprinkles), ou apenas micronutrientes sem zinco - grupo controle. As crianças foram suplementadas por 90 dias e acompanhadas quanto aos desfechos de DA e IRA. RESULTADOS: Das crianças randomizadas, 52,45% pertenciam ao grupo teste e 47,55% ao controle. A incidência de DA no teste foi de 14,7%, e no controle, 19,1%. O grupo teste apresentou menor risco de desenvolver DA em relação ao controle, porém esse achado não foi estatisticamente significante (RR = 0,77 [0,37-1,6]; p = 0,5088). A IRA apresentou incidência elevada em ambos os grupos, sendo 60% no teste e 48,5% no controle, com risco maior de apresentar a doença no grupo teste, porém sem significância estatística (RR=1,24 [0,91-1,68]; p = 0,1825). Quanto à aceitação, o percentual médio de consumo, em dias, de todo conteúdo dos sachês contendo sprinkles foi 95,72% (DP = 4,9) e 96,4% (DP = 6,2), para o teste e controle, respectivamente. CONCLUSÕES: A suplementação de zinco através dos sprinkles não reduziu a incidência de DA ou IRA entre as crianças avaliadas. Os sprinkles foram bem aceitos por todos os participantes do estudo.

OBJECTIVE: To evaluate the incidence of diarrheal disease (DD) and acute respiratory infection (ARI) in children undergoing supplementation of zinc and other micronutrients through the use of sprinkles, as well as their acceptance by these participants. METHOD: This was a randomized double-blinded clinical trial of 143 healthy institutionalized children, aged 6 to 48 months. They were randomized into two groups and received daily zinc and micronutrients - test group (sprinkles), or micronutrients without zinc - control group. Children were supplemented for 90 days and followed regarding the outcomes of DD and ARI. RESULTS: Of the randomized children, 52.45% belonged to the test and 47.55% to the control group. The incidence of DD in the test group was 14.7% and was 19.1% in the control group. The test group showed a lower risk of developing DD when compared to controls, but this finding was not statistically significant (RR = 0.77 [0.37 to 1.6], p = 0.5088). ARI had high incidence in both groups, 60% in the test group and 48.5% in the control group, with an increased risk of developing the disease in the test group, but with no statistical significance (RR = 1.24 [0.91 to 1.68], p = 0.1825). Regarding acceptance, the mean percentage of consumption, in days, of the entire content of the sachets containing sprinkles was 95.72% (SD = 4.9) and 96.4% (SD = 6.2) for the test and control groups, respectively. CONCLUSIONS: Zinc supplementation through the use of sprinkles did not reduce the incidence of DD or ARI among the evaluated children. The sprinkles were well accepted by all study participants.

Zinc and other micronutrients supplementation through the use of sprinkles: impact on the occurrence of diarrhea and respiratory infections in institutionalized children.

OBJECTIVE: To evaluate the incidence of diarrheal disease (DD) and acute respiratory infection (ARI) in children undergoing supplementation of zinc and other micronutrients through the use of sprinkles, as well as their acceptance by these patients. METHOD: This was a randomized double-blinded clinical trial of 143 healthy institutionalized children, aged 6 to 48 months. They were randomized into two groups and received daily zinc and micronutrients - test group (sprinkles), or micronutrients without zinc - control group. Children were supplemented for 90 days and followed regarding the outcomes of DD and ARI. RESULTS: Of the randomized children, 52.45% belonged to the test and 47.55% to the control group. The incidence of DD in the test group was 14.7% and was 19.1% in the control group. The test group showed a lower risk of developing DD when compared to controls, but this finding was not statistically significant (RR=0.77 [0.37 to 1.6], p=0.5088). ARI had high incidence in both groups, 60% in the test group and 48.5% in the control group, with an increased risk of developing the disease in the test group, but with no statistical significance (RR=1.24 [0.91 to 1.68], p=0.1825). Regarding acceptance, the mean percentage of consumption, in days, of the entire content of the sachets containing sprinkles was 95.72% (SD=4.9) and 96.4% (SD=6.2) for the test and control groups, respectively. CONCLUSIONS: Zinc supplementation through the use of sprinkles did not reduce the incidence of DD or ARI among the evaluated children. The sprinkles were well accepted by all study participants.

Aspectos clínicos e demográficos da fenilcetonúria no Estado da Bahia / Clinical and demographic aspects of phenylketonuria in Bahia State, Brazil

OBJETIVO:Descrever as características clínicas e demográficas dos pacientes com diagnóstico de hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal da Bahia. MÉTODOS: Estudo transversal de 99 famílias (111 afetados) com fenótipo bioquímico de hiperfenilalaninemia, com coleta de dados em prontuários e em banco de dados laboratorial, incluindo aspectos demográficos e clínicos. RESULTADOS: A incidência de hiperfenilalaninemia na Bahia foi de um caso a cada 16.334 nascidos vivos, com cobertura de 91 por cento. Dentre os pacientes acompanhados, 82 por cento foram diagnosticados pela triagem neonatal e, em 11 famílias, havia mais de um caso. O fenótipo clássico da fenilcetonúria foi diagnosticado em 63 (57 por cento) pacientes. Entre os triados, a mediana de idade na primeira consulta foi 39,5 dias e, deles, 34 por cento apresentavam sintomatologia nesse momento; nenhum com atraso no desenvolvimento neuropsicomotor. A consanguinidade foi descrita em 32 por cento dos casos e houve predomínio de pacientes classificados como brancos (63 por cento). Os pais tinham baixa escolaridade e baixa renda. Dos 417 municípios da Bahia, 15 por cento apresentavam pelo menos um caso, com concentração na região nordeste (10 por cento) e na capital do Estado (14 por cento). CONCLUSÕES: Os resultados evidenciaram idade tardia ao início do tratamento, o que pode comprometer os resultados do programa. Observou-se também presença de consanguinidade e recorrência familiar, reforçando a importância da investigação familiar para diagnosticar indivíduos com deficiência mental de etiologia não esclarecida que podem se beneficiar de tratamento.

OBJECTIVE:To describe demographic and clinical characteristics of patients with hyperphenylalaninemia followed at the Neonatal Screening Reference Service of Bahia, Brazil. METHOD:Cross-sectional study including 99 families (111 affected individuals) with biochemical phenotype of hyperphenylalaninemia by chart review and laboratory database that include demographic and clinical features. RESULTS: The incidence of hyperphenylalaninemia in Bahia was one case per 16,334 live births, covering 91 percent of them. Among patients followed, 82 percent were diagnosed by newborn screening and, in 11 families, there were more than one case. The classic phenotype of phenylketonuria was diagnosed in 63 (57 percent) patients. Among those screened, the median age at first consultation was 39.5 days. Among the patients, 34 percent had symptoms at the first medical consultation, none of them with delayed neurodevelopment. Consanguinity was reported in 32 percent of patients. Affected individuals were predominantly classified as white (63 percent). The parents had low education and low income. Among the 417 municipalities of Bahia, 15 percent had at least one case, with a concentration in the Northeast (10 percent) and in the capital of the State (14 percent). CONCLUSIONS: The results showed elevated age at the beginning of the treatment, which may compromise the program results. Presence of consanguinity and familial recurrence were also noted. Careful investigation of families searching for individuals with mental retardation of unknown etiology that would benefit from the treatment is important.

Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil.

Because of the restricted intake of high-biologic-value protein, children with phenylketonuria (PKU) may have lower than normal plasma concentrations of copper, zinc, and selenium. The purpose of the present study was to investigate erythrocyte zinc levels and serum copper and selenium levels in children and adolescents with PKU by analyzing the relation between their diet and the laboratory profiles of these elements. The study was conducted in 32 children and adolescents with PKU, who were on a special diet. Dietary records and blood samples were collected from each subject. Erythrocyte zinc and serum selenium levels were below normal in 37.5% and 90.6% of the subjects, respectively. Plasma copper levels were normal. Metabolic formulas were the only source of 86.9% of the zinc, 65.6% of the copper, and 32.4% of the selenium. Despite this, there was no significant correlation between the zinc formula supply and erythrocyte zinc levels (rho = -0.143, P = .435) or the supply and serum levels for copper (rho = -0.117, P = .523) and selenium (rho = 0.113, P = .538). These results suggest that Brazilian patients with PKU present with low ingestion levels, low serum selenium levels, and low erythrocyte zinc levels.

Maternal perceptions and self-perception of the nutritional status of children and adolescents from private schools.

OBJECTIVE: To describe and compare maternal perception and the self-perception of children/adolescents of their nutritional status, identifying factors associated with incorrect perceptions. METHODS: Cross-sectional study carried out in Salvador, BA, Brazil with 1,741 students aged 6 to 19 years, classified according to body mass index (BMI) percentiles as underweight (BMI < p5), well-nourished (p5 /= p95). Students and their mothers answered questions on perception of weight, patterns of physical exercise and dieting. By means of multivariate analysis, factors associated with incorrect maternal and self- perceptions were analyzed. RESULTS: Self-perceptions were correct in 64.7% of cases and 75.3% of maternal perceptions were correct. The principal factor associated with incorrect self-perception was age between 6 and 9 years (OR = 1.59; 95%CI 1.15-2.20). Among girls, being overweight and practicing physical exercise were characteristics associated with better perception. For boys, the presence of overweight resulted in an increased risk of incorrect self-perception. Among mothers, having an overweight child (OR = 3.02; 95%CI 2.05-4.46) and a child aged from 6 to 9 years (OR = 1.88; 95%CI 1.28-2.76) were associated with incorrect perception. CONCLUSIONS: A failure to correctly perceive weight was very frequent among children and their mothers, especially when children were overweight. These factors could represent obstacles to correctly recognizing nutritional abnormalities.

Percepção materna e autopercepção do estado nutricional de crianças e adolescentes de escolas privadas / Maternal perceptions and self-perception of the nutritional status of children and adolescents from private schools

OBJETIVO: Descrever e comparar a percepção materna e a autopercepção da criança/adolescente do seu estado nutricional, identificando fatores associados a erro na percepção. MÉTODOS: Estudo transversal realizado em Salvador (BA) com 1.741 estudantes entre 6 e 19 anos, classificados de acordo com os percentis do índice de massa corporal (IMC) em baixo peso (IMC < p5), eutróficos (p5 ≤ IMC < p85), risco para sobrepeso (p85 ≤ IMC < p95) e sobrepeso (IMC > p95). Perguntas acerca da percepção do peso, padrão de atividade física e realização de dieta foram respondidas por alunos e genitoras. Foram avaliados, através de análise multivariada, fatores associados a erro na autopercepção e percepção materna. RESULTADOS: Houve acerto de 64,7 por cento para a autopercepção e de 75,3 por cento para a percepção das genitoras. O principal fator associado a erro na autopercepção foi a faixa etária entre 6 e 9 anos (OR = 1,59; IC95 por cento 1,15-2,20). Entre as meninas, ter excesso de peso e fazer atividade física foram as características associadas à melhor percepção. Para os meninos, a presença de excesso de peso resultou em maior risco de erro na autopercepção. Entre as genitoras, filho com excesso de peso (OR = 3,02; IC95 por cento 2,05-4,46) e faixa etária de 6 a 9 anos (OR = 1,88; IC95 por cento 1,28-2,76) foram os fatores associados a erro na percepção. CONCLUSÃO: A falta de percepção adequada do peso ocorreu com muita freqüência entre as crianças e suas genitoras, em especial quando havia excesso de peso, fatores que podem representar obstáculos ao correto reconhecimento de alterações nutricionais.

OBJECTIVE: To describe and compare maternal perception and the self-perception of children/adolescents of their nutritional status, identifying factors associated with incorrect perceptions. METHODS: Cross-sectional study carried out in Salvador, BA, Brazil with 1,741 students aged 6 to 19 years, classified according to body mass index (BMI) percentiles as underweight (BMI < p5), well-nourished (p5 ≤ BMI < p85), at risk of overweight (p85 ≤ BMI < p95) or overweight (BMI > p95). Students and their mothers answered questions on perception of weight, patterns of physical exercise and dieting. By means of multivariate analysis, factors associated with incorrect maternal and self- perceptions were analyzed. RESULTS: Self-perceptions were correct in 64.7 percent of cases and 75.3 percent of maternal perceptions were correct. The principal factor associated with incorrect self-perception was age between 6 and 9 years (OR = 1.59; 95 percentCI 1.15-2.20). Among girls, being overweight and practicing physical exercise were characteristics associated with better perception. For boys, the presence of overweight resulted in an increased risk of incorrect self-perception. Among mothers, having an overweight child (OR = 3.02; 95 percentCI 2.05-4.46) and a child aged from 6 to 9 years (OR = 1.88; 95 percentCI 1.28-2.76) were associated with incorrect perception. CONCLUSIONS: A failure to correctly perceive weight was very frequent among children and their mothers, especially when children were overweight. These factors could represent obstacles to correctly recognizing nutritional abnormalities.

Aspectos clínicos da fenilcetonúria em serviço de referência em triagem neonatal da Bahia / Clinical aspects of phenylketonuria in a reference service for neonatal screening in Bahia

OBJETIVOS: descrever as características clínicas dos pacientes com hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal (SRTN) do estado da Bahia. MÉTODOS: estudo descritivo transversal, tendo como amostra todos os pacientes com diagnóstico conhecido de Hiperfenilalaninemia residentes no estado da Bahia e acompanhados no SRTN até setembro de 2005. Tal população é composta de 46 famílias, num total de 51 pacientes. A análise dos dados foi descritiva, incluindo medidas de tendência central e dispersão. RESULTADOS: houve discreto predomínio do gênero feminino (52,9 por cento). A maioria dos pacientes (78,4 por cento) teve seu diagnóstico estabelecido através da triagem neonatal, tendo, portanto, tratamento precoce. Consangüinidade foi registrada em 32,6 por cento das famílias. A média de início do tratamento entre os pacientes diagnosticados pela triagem neonatal foi de 56,6 37,8 dias, enquanto que entre os pacientes com diagnóstico tardio, foi de 7,1 anos. CONCLUSÕES: o estudo descreve um grupo de pacientes representativo de uma patologia incluída no Programa Nacional de Triagem Neonatal (PNTN), sendo, portanto, de relevância para a saúde pública. Entre os dados clínicos, chama a atenção a média de idade do início do tratamento, superior ao recomendado na literatura, alertando para a necessidade de um maior enfoque no diagnóstico precoce.