Dietary intake in individuals with phenylketonuria: an integrative review / Ingesta dietética en individuos con fenilcetonuria: una revisión integradora

Introduction: the dietary intake of individuals with phenylketonuria (PKU) may vary widely according to different cultural eating habits, lifestyle,access to multidisciplinary team, and metabolic formulas available. Thus, knowing the dietary intake of this population makes it possible to tailornutritional treatment strategies to impact their health.Objective: to analyze the evidence on the dietary intake of individuals with PKU.Methods: an integrative literature review was conducted on the dietary intake of individuals with PKU in the databases PUBMED, BIREME andScience Direct. Original articles that addressed the energy and macronutrient food intake of children, adolescents and/or adults with PKU wereincluded in the study, without time restriction, in any language. A total of 384 articles were found and 27 articles were selected and analyzed.Results: evidence about the nutritional composition of their diet showed that individuals with PKU consume between 1160-2721 kcal of energy—7.2-17.4 % (32.4-76.9 g) of energy as protein, 45.9-69.2 % of energy as carbohydrates, 16.6-39 % of energy as lipids— and between7.6 and 20 g of fiber.Conclusion: most individuals with PKU have low energy, protein and fiber intake, adequate lipid intake, and high carbohydrate intake. Metaboliccontrol of the disease is still a challenge in all countries. Nutritional strategies to improve dietary nutritional composition and phenylalanine bloodlevels in individuals with PKU remain an urgent issue.(AU)

Introducción: la ingesta dietética de los individuos con fenilcetonuria (PKU) puede variar ampliamente debido a los diferentes hábitos culturalesde alimentación, el estilo de vida, el acceso al equipo multidisciplinar y las fórmulas metabólicas disponibles. Por ello, conocer la ingesta dietéticade esta población permite adaptar las estrategias de tratamiento nutricional para incidir en su salud.Objetivo: analizar la evidencia sobre la ingesta dietética de individuos con PKU.Métodos: se realizó una revisión bibliográfica integradora sobre la ingesta dietética de las personas con PKU en las bases de datos PUBMED,BIREME y Science Direct. El estudio incluyó artículos originales que abordaran la ingesta alimentaria de energía y macronutrientes de niños,adolescentes y/o adultos con PKU, sin restricción de tiempo, en cualquier idioma. Se encontraron 384 artículos y se seleccionaron y analizaron 27.Resultados: la evidencia de la composición nutricional de la dieta mostró que los individuos con PKU consumen entre 1160 y 2721 kcal deenergía —7,2-17,4 % (32,4-76,9 g) de la energía en forma de proteínas, 45,9-69,2 % de la energía en carbohidratos, 16,6-39 % de la energíaen lípidos— y entre 7,6 y 20 g de fibra.Conclusiones: la mayoría de los individuos con PKU tienen una ingesta baja de energía, proteínas y fibra, una ingesta adecuada de lípidos y unaingesta alta de hidratos de carbono. El control metabólico de la enfermedad sigue siendo un reto en todos los países. Siguen siendo urgenteslas estrategias nutricionales para mejorar la composición nutricional de la dieta y los niveles de fenilalanina en sangre de los individuos con PKU.(AU)

Effect of treatment with growth hormone on body composition and metabolic profile of short children born small for gestational age.

OBJECTIVE: To assess the effect of recombinant growth hormone (rGH) on body composition and metabolic profile of prepubertal short children born small for gestational age (SGA) before and after 18 months of treatment. METHODS: It is a clinical, non-randomized, and paired study. Children born SGA, with birth weight and/or length <-2 standard deviations (SD) for gestational age and sex, prepubertal, born at full term, of both genders, with the indication for treatment with rGH were included. The intervention was performed with biosynthetic rGH at doses ranging from 0.03 to 0.05 mg/kg/day, administered subcutaneously, once a day at bedtime. Total lean mass (LM) and total fat mass (FM) were carried out using dual-energy X-ray absorptiometry (DXA), and the metabolic profile was assessed for insulin, glycemia, IGF-1 levels and lipid profile. RESULTS: Twelve patients (nine girls, 8.17±2.39 y) were evaluated; three patients dropped out of the study. There was an increase of LM adjusted for length (LMI) (p=0.008), LMI standard deviation score (SDS) adjusted for age and sex (p=0.007), and total LM (p<0.001). The percentage of body fat (BF%) and abdominal fat (AF) remained unaltered in relation to the beginning of treatment. Among the metabolic variables, blood glucose remained within normal levels, and there was a reduction in the number of participants with altered cholesterol (p=0.023). CONCLUSIONS: The effect of rGH treatment was higher on LM than in FM, with increased LM adjusted for length and standardized for age and sex. Glycemia remained within the normal limits, and there was a decreased number of children with total cholesterol above the recommended levels.

Dietary intake in individuals with phenylketonuria: an integrative review.

Introduction: Introduction: the dietary intake of individuals with phenylketonuria (PKU) may vary widely according to different cultural eating habits, lifestyle, access to multidisciplinary team, and metabolic formulas available. Thus, knowing the dietary intake of this population makes it possible to tailor nutritional treatment strategies to impact their health. Objective: to analyze the evidence on the dietary intake of individuals with PKU. Methods: an integrative literature review was conducted on the dietary intake of individuals with PKU in the databases PUBMED, BIREME and Science Direct. Original articles that addressed the energy and macronutrient food intake of children, adolescents and/or adults with PKU were included in the study, without time restriction, in any language. A total of 384 articles were found and 27 articles were selected and analyzed. Results: evidence about the nutritional composition of their diet showed that individuals with PKU consume between 1160-2721 kcal of energy -7.2-17.4 % (32.4-76.9 g) of energy as protein, 45.9-69.2 % of energy as carbohydrates, 16.6-39 % of energy as lipids- and between 7.6 and 20 g of fiber. Conclusion: most individuals with PKU have low energy, protein and fiber intake, adequate lipid intake, and high carbohydrate intake. Metabolic control of the disease is still a challenge in all countries. Nutritional strategies to improve dietary nutritional composition and phenylalanine blood levels in individuals with PKU remain an urgent issue.

Introducción: Introducción: la ingesta dietética de los individuos con fenilcetonuria (PKU) puede variar ampliamente debido a los diferentes hábitos culturales de alimentación, el estilo de vida, el acceso al equipo multidisciplinar y las fórmulas metabólicas disponibles. Por ello, conocer la ingesta dietética de esta población permite adaptar las estrategias de tratamiento nutricional para incidir en su salud. Objetivo: analizar la evidencia sobre la ingesta dietética de individuos con PKU. Métodos: se realizó una revisión bibliográfica integradora sobre la ingesta dietética de las personas con PKU en las bases de datos PUBMED, BIREME y Science Direct. El estudio incluyó artículos originales que abordaran la ingesta alimentaria de energía y macronutrientes de niños, adolescentes y/o adultos con PKU, sin restricción de tiempo, en cualquier idioma. Se encontraron 384 artículos y se seleccionaron y analizaron 27. Resultados: la evidencia de la composición nutricional de la dieta mostró que los individuos con PKU consumen entre 1160 y 2721 kcal de energía ­7,2-17,4 % (32,4-76,9 g) de la energía en forma de proteínas, 45,9-69,2 % de la energía en carbohidratos, 16,6-39 % de la energía en lípidos­ y entre 7,6 y 20 g de fibra. Conclusiones: la mayoría de los individuos con PKU tienen una ingesta baja de energía, proteínas y fibra, una ingesta adecuada de lípidos y una ingesta alta de hidratos de carbono. El control metabólico de la enfermedad sigue siendo un reto en todos los países. Siguen siendo urgentes las estrategias nutricionales para mejorar la composición nutricional de la dieta y los niveles de fenilalanina en sangre de los individuos con PKU.

Effect of treatment with growth hormone on body composition and metabolic profile of short children born small for gestational age / Efeito do tratamento com hormônio de crescimento na composição corporal e no perfil metabólico de crianças nascidas pequenas para a idade gestacional com baixa estatura

ABSTRACT Objective: To assess the effect of recombinant growth hormone (rGH) on body composition and metabolic profile of prepubertal short children born small for gestational age (SGA) before and after 18 months of treatment. Methods: It is a clinical, non-randomized, and paired study. Children born SGA, with birth weight and/or length <-2 standard deviations (SD) for gestational age and sex, prepubertal, born at full term, of both genders, with the indication for treatment with rGH were included. The intervention was performed with biosynthetic rGH at doses ranging from 0.03 to 0.05 mg/kg/day, administered subcutaneously, once a day at bedtime. Total lean mass (LM) and total fat mass (FM) were carried out using dual-energy X-ray absorptiometry (DXA), and the metabolic profile was assessed for insulin, glycemia, IGF-1 levels and lipid profile. Results: Twelve patients (nine girls, 8.17±2.39 y) were evaluated; three patients dropped out of the study. There was an increase of LM adjusted for length (LMI) (p=0.008), LMI standard deviation score (SDS) adjusted for age and sex (p=0.007), and total LM (p<0.001). The percentage of body fat (BF%) and abdominal fat (AF) remained unaltered in relation to the beginning of treatment. Among the metabolic variables, blood glucose remained within normal levels, and there was a reduction in the number of participants with altered cholesterol (p=0.023). Conclusions: The effect of rGH treatment was higher on LM than in FM, with increased LM adjusted for length and standardized for age and sex. Glycemia remained within the normal limits, and there was a decreased number of children with total cholesterol above the recommended levels.

RESUMO Objetivo: Avaliar o efeito do hormônio de crescimento recombinante (rHC) na composição corporal e no perfil metabólico de crianças pré-púberes com baixa estatura, nascidas pequenas para a idade gestacional (PIG) antes e depois de 18 meses de tratamento. Métodos: Estudo clínico, não randomizado e pareado. Foram incluídas crianças nascidas PIG, com peso e/ou altura ao nascer <-2 desvios padrão (DP) para idade gestacional e sexo, pré-púberes, nascidas a termo, de ambos os sexos, com indicação de tratamento com rGH. A intervenção foi realizada com rGH biossintético com doses variando de 0,03 a 0,05 mg/kg/dia, administrado por via subcutânea, uma vez ao dia ao deitar-se. A massa magra total (LM) e a massa gorda total (MG) foram determinadas por meio de absorciometria de raios X de dupla energia (DXA), e o perfil metabólico foi avaliado com dosagens de insulina, glicemia, IGF-1 e perfil lipídico. Resultados: Doze pacientes (nove meninas, 8,17±2,39 anos) foram avaliados; três pacientes abandonaram o estudo. Houve aumento da LM ajustada para estatura (LMI) (p=0,008), LMI standard deviation scores (SDS) ajustada para idade e sexo (p=0,007) e LM total (p<0,001). O percentual de gordura corporal (GC%) e gordura abdominal (AF) permaneceu inalterado em relação ao início do tratamento. Entre as variáveis metabólicas, a glicemia manteve-se na normalidade, e houve redução do número de participantes com colesterol alterado (p=0,023). Conclusões: O efeito do tratamento com HCr foi maior na MM do que na MG, com o aumento da MM ajustada para altura e padronizada para idade e sexo. A glicemia permaneceu normal e houve redução do número de crianças com colesterol total acima do recomendado.

Accuracy of equations for estimating resting energy expenditure in children and adolescents living with phenylketonuria.

BACKGROUND: Measuring resting energy expenditure (REE) in individuals living with phenylketonuria (PKU) using indirect calorimetry (IC) is unusual in healthcare facilities because it requires specific protocols and expensive equipment. Considering that determining REE is crucial for devising nutritional strategies for the management of PKU, the aim of this study was to identify the predictive equations that provide the best estimates of REE in children and adolescents living with PKU and to propose a predictive equation for determining REE in this population. METHODS: An REE concordance study was conducted with children and adolescents living with PKU. Anthropometric and body composition assessments using bioimpedance and REE assessment using IC were performed. The results were compared to 29 predictive equations. RESULTS: Fifty-four children and adolescents were evaluated. The REE obtained using IC differed from all estimated REE, except Henry's equation for male children (p = 0.058). Only this equation showed good agreement (0.900) with IC. Eight variables were associated with the REE obtained using IC with emphasis on fat-free mass (kg) (r = 0.786), weight (r = 0.775), height (r = 0.759) and blood phenylalanine (r = 0.503). With these variables, three REE equations were suggested, with R2 = 0.660, 0.635 and 0.618, respectively, and the third equation, which involves weight and height, showed adequate sample size for a statistical power of 0.942. CONCLUSION: Most equations, not specific for individuals living with PKU, overestimate the REE of this population. We propose a predictive equation for assessing REE for children and adolescents living with PKU to be used in settings where IC is not available.

Adults with early diagnosis of phenylketonuria have higher resting energy expenditure than adults with late diagnosis.

INTRODUCTION: To date, there is a gap regarding resting energy expenditure (REE) in adults with phenylketonuria (PKU), whether PKU type and time of diagnosis interfere with REE, and whether the available predictive equations are valid in this population. OBJECTIVE: To compare the REE of adult subjects with PKU with healthy subjects and secondarily, examine the REE of adults with PKU according to type and time of diagnosis, and check the agreement of commonly used predictive equations of REE. METHODS: Concordance study with adults with PKU and a comparison group (CG) with healthy adults. Anthropometric and body composition assessments and REE assessment by indirect calorimetry (IC) were performed. The results obtained by IC were compared with predictive equations. RESULTS: Sixty-nine adults were evaluated (PKU: 36; CG: 33). The REE of adults with mild and classic PKU is similar (p>.05) and similar to CG (p>.05). The REE of individuals with early diagnosis is higher (p < .05) than the REE of individuals with late diagnosis. The REE obtained by IC differed (p < .05) from all estimated REE. CONCLUSION: Late diagnosis of PKU showed lower REE compared to individuals with early diagnosis. The REE of adults with PKU does not differ in relation to the type of PKU, nor does it differ from the CG. Predictive equations overestimate REE.

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism.

OBJECTIVES: To describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education. METHODS: Observational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III). Estimated FSIQ scores are described and correlated with prognosis determinants. RESULTS: Median T4 at diagnosis was 2.8 µg/dL (0.0-16.5), the median age at the start of treatment was 18.5 days (3-309). Maternal education (n = 445): 2.7% of illiteracy, 59.8% with basic education. Estimated FSIQ scores were 88.0 (±11.8) in WPPSI-R (age 5.6 ± 0.5 years) and 84.1 (±13.0) in WISC-III (age 9.1 ± 1.4 years). The intellectual deficit was identified in 11.6%. Correlation between age at the start of treatment and estimated FSIQ was found only in the WPPSI-R test (p = 0.02). Initial T4 and maternal education significantly correlated with estimated FSIQ scores in both tests, with the latter being the most important determining factor. CONCLUSIONS: In this large cohort of mainly low socioeconomic status children, most children achieved normal cognitive levels; however, a significant percentage presented with below-average estimated FSIQ scores and intellectual deficits. Maternal education was the main determining factor in cognitive level followed by hypothyroidism severity.

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism

Abstract Objectives: To describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education. Methods: Observational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III). Estimated FSIQ scores are described and correlated with prognosis determinants. Results: Median T4 at diagnosis was 2.8 µg/dL (0.0-16.5), the median age at the start of treatment was 18.5 days (3-309). Maternal education (n = 445): 2.7% of illiteracy, 59.8% with basic education. Estimated FSIQ scores were 88.0 (±11.8) in WPPSI-R (age 5.6 ± 0.5 years) and 84.1 (±13.0) in WISC-III (age 9.1 ± 1.4 years). The intellectual deficit was identified in 11.6%. Correlation between age at the start of treatment and estimated FSIQ was found only in the WPPSI-R test (p = 0.02). Initial T4 and maternal education significantly correlated with estimated FSIQ scores in both tests, with the latter being the most important determining factor. Conclusions: In this large cohort of mainly low socioeconomic status children, most children achieved normal cognitive levels; however, a significant percentage presented with below-average estimated FSIQ scores and intellectual deficits. Maternal education was the main determining factor in cognitive level followed by hypothyroidism severity.

Vocal Characteristics of Children With Short Stature Before and After Growth Hormone Treatment.

OBJECTIVE: To evaluate the vocal characteristics of children with short stature before and 12 months after growth hormone treatment. MATERIAL AND METHODS: This analytical, observational cohort study included 23 children (age 5-11 years) diagnosed with short stature. Children in the short stature group (SSG) were matched (1:1) for age and sex with children with normal growth (normal stature group; NSG). Participants in the SSG underwent assessments before and 12 months after growth hormone treatment, while those in the NSG underwent the same assessments at baseline and 12 months. The assessments included evaluation of (A) vocal characteristics (history, vocal self-assessment, auditory-perceptual evaluation, and acoustic analysis), (B) anthropometry, (C) bone age, and (D) measurement of insulin-like growth factor-1 (IGF-1) levels. RESULTS: Children in the SSG had more vocal complaints (P = 0.026) than those in the NSG. The groups were similar in terms of vocal self-assessment and auditory-perceptual evaluation (P = nonsignificant). Results of acoustic analysis were also similar for fundamental frequency (F 0) and perturbation measures (P for both = nonsignificant). F 0 and speech frequency decreased significantly at 12 months in both groups. F1 values were higher at 12 months in the NSG, while F2 values were significantly higher in the baseline evaluation in boys in the SSG. Children in the SSG compared with those in the NSG presented a greater increase in height measurements at 12 months, although the anthropometric means were lower in both evaluations (P < 0.001). CONCLUSION: Vocal characteristics in children with short stature before and after treatment with growth hormone are comparable to those in children with normal growth.

Nutritional and metabolic parameters of children and adolescents with phenylketonuria.

BACKGROUND AND AIMS: Considering that phenylalanine-poor diets may be monotonous and compromise the development and nutritional status of children and adolescents with phenylketonuria, the aim of this study was to evaluate the anthropometric and biochemical characteristics of children and adolescents with this condition. METHODS: Retrospective study with anthropometric and biochemical data collection from patients with phenylketonuria in the age group 2-19.9 years. Nutritional status was classified according to the World Health Organization. Biochemical tests were compared to current recommendations. RESULTS: A total of 84 patients (71.8%) were eligible, with a median age of 10.7 years (2.4-19.9 years). There was predominance of adequate (n = 58, 69%) with presence of overweight and obesity in 24 (28.5%) patients. The biochemical tests revealed hyperphosphatemia in 46 (55%), hypertriglyceridemia in 27 (50%), vitamin B12 elevated in 34 (41.2%), selenium deficiency in 10 (13.7%), insufficient zinc in 7 (8.9%), low globulin in 21 (26.9%), low HDL in 35 (59.3%) and elevated phenylalanine level in 28 (34.5%) patients in the sample. Overweight and obesity were correlated with low HDL (p = 0.04) and lowest adequate frequency of LDL (p = 0.09). Higher phosphorus values were associated with lower body weight (r = -0.72) and age (r = -0.75), as well as vitamin B12 in the same parameters (r = -0.67 and r = -0, 68). A positive correlation of phenylalanine with body weight and age (r = 0.62 and r = 0.66) was observed. CONCLUSION: Most patients presented adequate according to anthropometric parameters and appropriate biochemical tests, except HDL, and moderate metabolic control of the disease. However, attention should be paid to the presence of overweight and need for biochemical monitoring of triglycerides, selenium, zinc, HDL, and phenylalanine.

Health-related quality of life in a cohort of youths with type 1 diabetes.

OBJECTIVE: Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM. MATERIAL AND METHODS: In total, 59 patients (9-16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD). This instrument comprises 50 items (domains satisfaction, impact, and concerns, with the lowest scores corresponding to better HRQOL) and a questionnaire gathering social, demographic, and clinical parameters. RESULTS: The mean age of the patients was 13.6 years, and 57.6% were girls. The median age at diagnosis was 7.16 years, 63% presented diabetic ketoacidosis (DKA) at diagnosis and 29% during follow-up. Mean glycated hemoglobin (HbA1c) in the previous year was 10%. All patients administered multiple insulin doses (mean 4.2 applications/day), 74.5% used rapid-acting and intermediate-acting insulin analogs, and 67.8% used pens for insulin application. The results of the DQOLY were within the cutoff limit for better HRQOL. An isolated analysis of each domain and the questionnaire results showed that the following factors were associated with better HRQOL: height Z-score, lower HbA1c, practice of physical activity, use of pen, fewer hospitalizations, and residence in a rural area. There was a high DKA rate at diagnosis, and the metabolic control was inappropriate in most patients. Despite coming from low-income households, most patients had access to the recommended treatment. CONCLUSION: Among T1DM patients, 71% had IQVJD scores compatible with better HRQOL.

Health-related quality of life in a cohort of youths with type 1 diabetes

SUMMARY Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM. MATERIAL AND METHODS: In total, 59 patients (9-16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD). This instrument comprises 50 items (domains satisfaction, impact, and concerns, with the lowest scores corresponding to better HRQOL) and a questionnaire gathering social, demographic, and clinical parameters. RESULTS: The mean age of the patients was 13.6 years, and 57.6% were girls. The median age at diagnosis was 7.16 years, 63% presented diabetic ketoacidosis (DKA) at diagnosis and 29% during follow-up. Mean glycated hemoglobin (HbA1c) in the previous year was 10%. All patients administered multiple insulin doses (mean 4.2 applications/day), 74.5% used rapid-acting and intermediate-acting insulin analogs, and 67.8% used pens for insulin application. The results of the DQOLY were within the cutoff limit for better HRQOL. An isolated analysis of each domain and the questionnaire results showed that the following factors were associated with better HRQOL: height Z-score, lower HbA1c, practice of physical activity, use of pen, fewer hospitalizations, and residence in a rural area. There was a high DKA rate at diagnosis, and the metabolic control was inappropriate in most patients. Despite coming from low-income households, most patients had access to the recommended treatment. CONCLUSION: Among T1DM patients, 71% had IQVJD scores compatible with better HRQOL.

RESUMO A qualidade de vida relacionada à saúde (HRQOL) no diabetes mellitus tipo 1 (T1DM) tem sido amplamente estudada. Os objetivos deste estudo foram avaliar e identificar os fatores que influenciam a HRQOL de crianças e adolescentes com T1DM. MATERIAL E MÉTODOS: No total, 59 pacientes (9-16 anos, T1DM por ≥1 ano) responderam a uma versão do Instrumento de Qualidade de Vida para Jovens com Diabetes (DQOLY) adaptada aos pacientes brasileiros (IQVJD). Esse instrumento compreende satisfação, impacto e preocupações de domínios, com os menores índices correspondentes a uma melhor HRQOL, e um questionário que reúne parâmetros sociais, demográficos e clínicos. RESULTADOS: A idade média foi de 13,6 anos e 57,6% eram meninas. A idade mediana no diagnóstico foi de 7,16 anos, 63% apresentaram cetoacidose diabética (DKA) no diagnóstico e 29% durante o seguimento. A hemoglobina glicada média (HbA1c) no ano anterior foi de 10%. Todos os pacientes receberam doses múltiplas de insulina (média de 4,2 aplicações/ dia), 74,5% utilizavam análogos de insulina de ação rápida e de ação intermediária e 67,8% usavam canetas para aplicação de insulina. Os resultados do DQOLY estavam dentro do limite de corte para melhor HRQOL. Uma análise isolada de cada domínio e os resultados do questionário mostraram que os seguintes fatores estavam associados a uma maior HRQOL: score z de altura, HbA1c menor, prática de atividade física, uso de caneta, menos hospitalizações e residência em uma área rural. Houve uma alta taxa de cetoacidose diabética no diagnóstico, e o controle metabólico foi inadequado na maioria dos pacientes. Apesar de serem provenientes de famílias de baixa renda, a maioria dos pacientes teve acesso ao tratamento recomendado. CONCLUSÃO: Entre pacientes com T1DM, 71% tinham escores IQVJD compatíveis com melhor HRQOL.

Developmental defects of enamel in phenylketonuria patients.

PURPOSE: The purpose of this study was to determine the prevalence of developmental defects of enamel in patients diagnosed with phenylketonuria (PKU). METHODS: The study group consisted of 24 four- to 24-year-old subjects with PKU. The control group consisted of 24 healthy individuals. An examination for the detection of developmental defects of enamel was conducted at the university pediatric dentistry clinic by a single examiner. Data were analyzed using the chi-square test (P<.05) and odds ratios. RESULTS: The prevalence of developmental defects of enamel was 36 percent in the study group and 15 percent in the control group. The maxillary central incisors were the most affected teeth in patients with PKU, while the maxillary and mandibular first molars were the most affected teeth in the control group. Patients with PKU had a 3.3-fold greater chance of exhibiting developmental defects of enamel versus the healthy controls, which was statistically significant (P<.001). CONCLUSION: The study findings suggest that PKU increases the risk of developmental defects of enamel.

Muscle strength and body composition during the transition phase in patients treated with recombinant GH to final height.

We assessed body composition and muscle strength during the transition phase in 18 growth hormone (GH) deficient males treated with recombinant GH to final height and 18 controls. According to peak-stimulated GH and basal insulin-like growth factor-1 (IGF-1) during the transition phase, patients were subdivided into GH deficient (GHD-TP, n=9) and GH sufficient (GHS-TP, n=9) groups. Assessments included lean and fat body mass and bone mineral density (BMD), all measured by dual-energy X-ray absorptiometry, and dynamic knee muscle strength, assessed by isokinetic dynamometer. Total body and lumbar spine BMD and muscle strength were lower in GHD-TP patients when compared with GHS-TP and controls (all p<0.05), whereas lean and fat body mass were lower in both GHD-TP and GHS-TP patients when compared with controls (p<0.05). These findings suggest that administration of recombinant GH to final height is not sufficient to provide normal body composition and muscle strength in young male patients with GH deficiency.

[Assessment of diastolic function in children and adolescents with type 1 diabetes mellitus - are there early signs of diabetic cardiomyopathy?]. / Avaliação da função diastólica em crianças e adolescentes diabéticos tipo 1 - Existem sinais precoces de miocardiopatia diabética?

OBJECTIVES: To evaluate diastolic function (DF) of children and adolescents with type 1 diabetes mellitus (DM1). SUBJECTS AND METHODS: Cross-sectional study of 67 otherwise healthy diabetic patients, and a control group (n = 84) in regard to age, sex, body mass index (BMI), Dopplere-chocardiography, and ECG for both groups; and disease duration, HbA1C, microalbuminuria, and serum lipids for DM 1 patients. RESULTS: Diastolic alterations [(A and E mitral waves, E/A ratio, isovolumic relaxation time (IVRT) and E wave deceleration time (EWDT)] were found in diabetic patients, with higher prevalence among pubertal girls (13-17 years old). IVRT and EWDT correlated positively with BMI (p = 0.028). Chronological age and disease duration were predictive factors for mitral A wave (p = 0.004 and 0.033, respectively). CONCLUSIONS: DF alterations were detected in the group of diabetic patients, with greater prevalence among pubertal girls; disease duration and age influenced parameters of DF.

Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil.

OBJECTIVE: To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS: Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU > 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test (PDT) was performed in G1; and saliva-to-plasma radioiodine ratio (I- S/P) in G2. RESULTS: Levels of TSH, TT4, and FT4 before treatment and upon diagnosis confirmation were significantly different in both groups, but not between groups. In G1, 27 patients developed goiter; 17 had positive PDT (14%-71% discharge), 11 had TG < 2.5 ng/dL (one with high TSH), and one developed thyroid carcinoma. In G2, four patients developed goiter, and three had low I- S/P. CONCLUSION: These data suggest an iodide organification defect in 17 cases; an iodide transport defect (NIS defect) in three, probable TSH resistance in 10, and a TG synthesis defect in two cases.

Avaliação da função diastólica em crianças e adolescentes diabéticos tipo 1 - Existem sinais precoces de miocardiopatia diabética? / Assessment of diastolic function in children and adolescents with type 1 diabetes mellitus - Are there early signs of diabetic cardiomyopathy?

OBJETIVOS: Avaliar a função diastólica (FD) de crianças e adolescentes diabéticos tipo 1 (DM1). SUJEITOS E MÉTODOS: Estudo transversal de 67 DM1, sem comorbidades, e grupo controle (n = 84) da mesma faixa etária. Analisaram-se: idade, sexo, índice de massa corpórea (IMC), Dopplere-cocardiografia e eletrocardiograma de ambos os grupos e, nos portadores de DM1, o tempo de doença, HbA1C, lipidograma e o valor da microalbuminúria. RESULTADOS: Encontraram-se alterações diastólicas [(A e E mitral, relação E/A, tempo de relaxamento isovolumétrico (TRIV) e tempo de desaceleração da onda E (TDE)] nos diabéticos, com maior prevalência nas meninas na faixa 13-17 anos. TRIV e TDE correlacionaram-se positivamente com o IMC (p = 0,028). Idade e tempo de doença foram fatores preditivos para a onda A mitral (p = 0,004 e 0,033, respectivamente). CONCLUSÕES: Alterações de FD foram detectadas nos DM1, com maior prevalência em meninas púberes. Tempo de doença e idade dos pacientes influenciaram parâmetros de FD.

OBJECTIVES: To evaluate diastolic function (DF) of children and adolescents with type 1 diabetes mellitus (DM1). SUBJECTS AND METHODS: Cross-sectional study of 67 otherwise healthy diabetic patients, and a control group (n = 84) in regard to age, sex, body mass index (BMI), Dopplere-chocardiography, and ECG for both groups; and disease duration, HbA1C, microalbuminuria, and serum lipids for DM 1 patients. RESULTS: Diastolic alterations [(A and E mitral waves, E/A ratio, isovolumic relaxation time (IVRT) and E wave deceleration time (EWDT)] were found in diabetic patients, with higher prevalence among pubertal girls (13-17 years old). IVRT and EWDT correlated positively with BMI (p = 0.028). Chronological age and disease duration were predictive factors for mitral A wave (p = 0.004 and 0.033, respectively). CONCLUSIONS: DF alterations were detected in the group of diabetic patients, with greater prevalence among pubertal girls; disease duration and age influenced parameters of DF.

Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil / Características clínicas e laboratoriais de crianças e adolescentes com hipotireoidismo congênito devido a disormonogênese no sul do Brasil

OBJECTIVE: To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS: Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU > 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test (PDT) was performed in G1; and saliva-to-plasma radioiodine ratio (I- S/P) in G2. RESULTS: Levels of TSH, TT4, and FT4 before treatment and upon diagnosis confirmation were significantly different in both groups, but not between groups. In G1, 27 patients developed goiter; 17 had positive PDT (14%-71% discharge), 11 had TG < 2.5 ng/dL (one with high TSH), and one developed thyroid carcinoma. In G2, four patients developed goiter, and three had low I- S/P. CONCLUSION: These data suggest an iodide organification defect in 17 cases; an iodide transport defect (NIS defect) in three, probable TSH resistance in 10, and a TG synthesis defect in two cases.

OBJETIVO: Caracterizar o fenótipo de pacientes com hipotireoidismo congênito (HC) por disormonogênese e sugerir o nível do defeito genético. SUJEITOS E MÉTODOS: Pacientes com disormonogênese foram subdivididos em G1 (captação de 131I > 15%; n = 62) e G2 (captação < 15%; n = 32). Tireoglobulina (TG) foi dosada em todos, teste de descarga do perclorato (TDP) foi realizado no G1 e relação iodo salivar/sérico (I- S/P), no G2. RESULTADOS: Os valores de TSH, T4T e T4L pré-tratamento e na confirmação do diagnóstico foram significativamente diferentes em ambos os grupos (p < 0,01), mas não entre eles. No G1, 27 pacientes desenvolveram bócio; TDP foi positivo em 17 (descarga de 14%-71%); 11 tiveram TG < 2,5 ng/dL (um com TSH elevado) e um desenvolveu carcinoma de tireoide. No G2, quatro pacientes desenvolveram bócio e três apresentaram baixa I- S/P. CONCLUSÃO: Esses dados sugerem defeito na organificação do iodeto em 17 casos; defeito no transporte do iodeto (defeito na NIS) em três, provável resistência ao TSH em 10 e defeito na síntese de TG em dois.

Granuloma anular: aspectos clínicos y evolutivos de 52 pacientes / Granuloma annulare: clinical and developmental aspects of 52 patients

Introducción: El granuloma anular (GA) es una dermatosis benigna autolimitada. Se observa con mayor frecuencia en la edad escolar y, si bien la causa es desconocida, se postula que puede ser una reacción inmune de hipersensibilidad tardía a diversos antígenos. El diagnóstico es clínico y se basa en la presencia de placas de centro hipercrómico o color piel normal y límites papulares arciformes. La asociación con diabetes mellitus en los pacientes en la franja etaria pediátrica aún es controvertida. El objetivo de este trabajo es evaluar las características clínicas y evolutivas del GA en la infancia. Materiales y métodos: Estudio retrospectivo y descriptivo de pacientes de hasta 15 años de edad que tuvieron diagnóstico de GA, entre los años 1990 y 2008 en el servicio de atención terciaria de la ciudad de Curitiba, Brasil. Resultados: Fueron evaluados 52 casos de GA. La edad media de inicio fue de 4,5 años (14 meses a 12 años). En el 88% de los casos, las lesiones fueron asintomáticas. La forma localizada ocurrió en 39 (75%) pacientes, la profunda en 9 (17%) y las formas generalizada y perforante en 2 casos respectivamente. De los 33 pacientes con seguimiento, el 78,7% presentó mejoría de las lesiones en un período medio de 8 meses (1 a 35 meses). La glucemia en ayunas fue normal en los 18 (34%) casos evaluados. Un paciente tenía diagnóstico previo de diabetes mellitus tipo 1. Discusión: En esta población el GA afectó predominantemente al sexo femenino, con lesiones circinadas y localizadas en el dorso de los pies. La forma clínica más común fue la localizada, no hubo alteración de la glucemia y la resolución espontánea ocurrió en la mayoría de los casos.

Introduction: Granuloma annulare (GA) is a self-limited dermatosis. It is observed at school age the cause is unknown, it is believed to be an immune reaction of delayed hypersensitivity to various antigens. The diagnosis is clinical and based on the presence of arciform plaques with Introduction: Granuloma annulare (GA) is a self-limited dermatosis. It is observed at school age and hyperpigmented or flesh-coloured skin center. The association with diabetes mellitus in the pediatric population remains controversial. The objective of this work is to evaluate the clinical features and outcome of granuloma annulare in childhood. Materials and methods: Retrospective descriptive study of patients up to 15 years of age diagnosed with GA, between 1990 and 2008, in a tertiary care center of the city of Curitiba, Brasil. Results: We evaluated 52 cases of GA. The average age of onset was 4.5 years (14 months to 12 years). In 88% of cases the lesions were asymptomatic. The localized type was observed in 39 (75%) patients, deep lesions in 9 (17%) and generalized and perforating type in 2 cases each. Of the 33 patients with follow-up, 78.7% showed improvement in the lesions over an average period of 8 months (1 to 35 months). Glycemia was normal in the 18 cases evaluated. One patient had a previous diagnosis of type 1 diabetes mellitus. Discussion: We found, among the studied population, that GA occurred predominantly in females, with localized circinate lesions occurring mainly in the dorsal region of the feet. There was no increase in blood glucose and the spontaneous resolution occurred in most of the cases.

Tratamento do tumor do córtex adrenal na infância / Treatment of childhood adrenocortical tumor

O tumor do córtex adrenal (TCA) na infância é raro. Entretanto, no Paraná sua incidência é 15 vezes maior do que a observada em outros países. A mutação germinativa R337H TP53, presente em mais de 95 por cento dos nossos pacientes, provavelmente está relacionada à maior incidência. Cento e vinte e cinco pacientes foram tratados no período de 1966 a 2003. A cirurgia é o único tratamento curativo. Em nossa experiência, tumores no estádio I, ausência de spillage durante a cirurgia e ausência de trombo são parâmetros relacionados à maior sobrevida. Dados preliminares mostram que a associação de etoposídeo, doxorrubicina, cisplatina e mitotano produziu remissão completa do tumor e/ou das metástases em alguns pacientes. Os efeitos colaterais destas drogas são comuns e pode ocorrer insuficiência adrenocortical. As doses de reposição de glicocorticóides e mineralocorticóides devem ser 2 a 3 vezes maiores que as doses fisiológicas.