BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

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

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia,

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

A prevalência do uso de sonda nasogástrica em bebês portadores de fissura de lábio e/ou palato Prevalence of the use of nasogastric tube in babies with cleft lip and/or palate

OBJETIVO: Investigar a prevalência do uso de sonda nasogástrica em bebês com fissura labiopalatina, sua correlação com tipo de fissura, maternidade e cidade de origem, e a idade na primeira consulta. MÉTODOS: A amostra constituiu-se de 137 bebês de ambos os gêneros, com fissura de lábio e/ou palato, sem outros comprometimentos, nascidos a termo, e que chegaram para primeira consulta em um centro especializado em fissura entre zero e 12 meses (mediana=33 dias). Realizou-se análise estatística pelo teste de coeficiente de contingência (pPURPOSE: To investigate the prevalence of the use of nasogastric tube in babies with cleft lip and/or palate, and to correlate its use with type of cleft, maternity hospital (private or public) and city of origin, and age at the first visit to a cleft center. METHODS: The sample consisted of data collected from 137 babies of both genders with cleft lip and/or palate, without any other associated anomalies, born full-term, who attended their first consultation at a specialized cleft center with ages between zero and 12 months (median=33 days). Statistical analyses used the coefficient of contingency test (p<0,05). RESULTS: From the subjects, 61% were male and 39% were female; 51% presented cleft lip and palate, 35% cleft palate, and 14% cleft lip. Regarding place of birth, 36% were born in private and 64% in public maternity hospitals; 60% were born in the city of Belo Horizonte (Minas Gerais, Brazil), 15% in other cities of the metropolitan area, and 25% in other cities at the state of Minas Gerais (Brazil). The use of nasogastric tube was reported in 23% of the cases. There was no association between the type of cleft or maternity and the use of the tube, but the later was more frequent within the metropolitan area (p=0,007). CONCLUSION: The prevalence of the use of nasogastric tube in babies with cleft lip and/or palate was considered high since they were born full-term and without any other associated anomalies that would indicate the need of the tube. The use of nasogastric tube was more frequent in babies born at the metropolitan area of Belo Horizonte, when compared to other cities in the state of Minas Gerais (Brazil)

Normal Growth of Healthy Infants Born from HIV+ Mothers Fed a Reduced Protein Infant Formula Containing the Prebiotics Galacto-Oligosaccharides and Fructo-Oligosaccharides: A Randomized Controlled Trial

Objective The aim of the current study was to evaluate the safety of a new reduced protein (2.1 g/100 kcal) infant formula containing 4 g/L of 90% galacto-oligosaccharides (GOS) and 10% fructo-oligosaccharides (FOS). Methods Healthy term infants from Brazil were enrolled. Those born to human immunodeficiency virus (HIV)-positive mothers were randomized to a test ( n = 65) or control ( n = 63) formula group. Infants born to HIV-negative mothers were either exclusively breast-fed ( n = 79) or received a mixed diet (breast milk and test formula, n = 65). Between 2 weeks and 4 months of age, infants were exclusively fed according to their assigned group. Anthropometric measurements were taken at baseline, 1, 2, 3, 4, 6, 8, 10, and 12 months. Digestive tolerance was evaluated during the first 4 months. The primary outcome was mean daily weight gain between 2 weeks and 4 months in the test formula and breast-fed groups. Results Data from all infants ( N = 272) were used in the intention-to-treat (ITT) analysis and data from 230 infants were used in the per-protocol (PP) analysis. The difference in mean daily weight gain between 2 weeks and 4 months in the test formula and breast-fed groups was 1.257 g/day (onesided 95% confidence interval [CI]: -0.705 to inf, P < 0.001) in the PP analysis, showing that the lower bound of the 95% CI was above the -3.0 g/day non-inferiority margin. Results were similar in the ITT analysis. Symptoms of digestive tolerance and frequency of adverse events were similar in the two groups. Conclusions The formula containing 2.1 g/100 kcal protein and GOS and FOS was safe and tolerated well

Prevenção primária de doenças cardiovasculares na obesidade infantojuvenil: efeito anti-inflamatório do exercício físico Early prevention of cardiovascular diseases in juvenile obesity: the anti-inflammatory effect of physical exercise

A pandemia da obesidade juvenil e do sedentarismo está relacionada com o maior risco de doenças cardiovasculares no futuro. Ambas com fisiopatologia inflamatória, essas condições têm atraído significativa atenção científica. O início dos eventos que agridem o endotélio vascular pode ocorrer na infância, porém, sinais clínicos da aterosclerose geralmente só aparecem na fase adulta. O tecido adiposo é hoje reconhecido por seu papel ativo, induzindo a produção de citocinas pró e anti-inflamatórias, como o fator de necrose tumoral-alfa, as interleucinas 1, 6 e 10, a proteína C-reativa e outras. Há várias evidências de que os níveis sanguíneos dessas citocinas se encontram mais altos em indivíduos com excesso de peso, inclusive crianças e adolescentes. A prevenção precoce, desde a infância, apresenta-se como a melhor maneira de evitar os danos da obesidade na fase adulta, enquanto o potencial da prática regular de exercícios físicos tem se mostrado surpreendente. Sua ação anti-inflamatória se manifesta através de menores concentrações séricas de interleucina 6, de proteína C-reativa e leptina, além de aumentos na adiponectina. Observa-se escassez de estudos randomizados e controlados avaliando as relações entre obesidade, inflamação e exercícios para a população jovem. Com resultados às vezes controversos, a maioria das conclusões é procedentede estudos com adultos. O objetivo desta revisão é avaliar o papel anti-inflamatório, e assim cardioprotetor, da atividade física regular na obesidade infantojuvenil.<br>Nowadays, juvenile obesity and physical inactivity are pandemic conditions which relate to a greater future risk of cardiovascular diseases. From an inflammatory point of view, they have attracted massive scientific attention. The beginning of the events related to atherosclerosis may occur in childhood, generating endothelial and metabolic dysfunction; however, the symptoms usually only appear later on, in adulthood. The fat tissue is recognized as being metabolically active, stimulating the production of inflammatory cytokines, such as the tumoral necrosis factor, interleukines 1, 6 and 10, C-reactive protein, among others. There is plenty of evidence that the serum levels of these citokines are higher in overweight individuals, including children and adolescents. Early prevention as young as possible is the best way to avoid future consequences of obesity. In this context, the potential benefits of regular physical exercise have been surprising. Researchers have shown evidence of anti-inflammatory responses, including lower levels of interleukine 6, C-reactive protein, leptin, besides higher levels of adiponectins after engagement in regular physical activity. However, we still have few controlled randomized studies addressing the relations between obesity, inflammation and exercise for the pediatric population. There are controversial findings in this field, and many of them come from adult studies. Thus, the purpose of the present review is to evaluate the metabolic role of physical exercise in juvenile obesity, aiming at heart protection