Epidemiologic trend of pediatric inflammatory bowel disease in Latin America: The Latin American Society for Pediatric Gastroenterology, Hepatology and Nutrition (LASPGHAN) Working Group.

INTRODUCTION AND AIMS: The primary aim was to explore the epidemiologic trend of pediatric inflammatory bowel disease in Latin America, and the secondary aims were to obtain an overview of the diagnostic/therapeutic focus of the members of the LASPGHAN and examine the relation of case frequency to year, during the study period. MATERIALS AND METHODS: Latin American pediatric gastroenterologists participated in an online survey, conducted through the SurveyMonkey platform, that investigated the yearly frequency of new inflammatory bowel disease patients within the time frame of 2005-2016, their disease variety, the gastrointestinal segments affected, and the diagnostic and treatment methods utilized. The correlation of new case frequency with each study year was evaluated. RESULTS: A total of 607 patients were studied. The diagnoses were ulcerative colitis in 475 (78.3%) cases, Crohn's disease in 104 (17.1%), and inflammatory bowel disease D unclassified in 28 (4.6%). The trend in ulcerative colitis was a lineal increase in the frequency of new cases related to each study year, with a significant correlation coefficient. Pancolitis was found in 67.6% of the patients. The diagnostic methods included clinical data, endoscopy, and biopsies in more than 99% of the cases, and imaging studies were indicated selectively. Drug regimens were limited to 5-aminosalicylic acid derivatives, azathioprine, 6-mercaptopurine, infliximab, and adalimumab. CONCLUSIONS: Pediatric inflammatory bowel disease in Latin America appears to have increased during the years included in the study period, with a predominance of moderate or severe ulcerative colitis. That lineal trend suggests the predictive likelihood of a gradual increase in the coming years, with possible epidemiologic and clinical implications.

Epidemiologic trend of pediatric inflammatory bowel disease in Latin America: The Latin American Society for Pediatric Gastroenterology, Hepatology and Nutrition (LASPGHAN) Working Group. / Tendencia epidemiológica de la enfermedad intestinal inflamatoria en pacientes pediátricos en América Latina: Grupo de Trabajo en Enfermedad Intestinal Inflamatoria, Sociedad Latinoamericana de Gastroenterología, Hepatología y Nutrición Pediátrica (SLAGHNP).

INTRODUCTION AND OBJECTIVES: The primary aim was to explore the epidemiologic trend of pediatric inflammatory bowel disease in Latin America, and the secondary aims were to obtain an overview of the diagnostic/therapeutic focus of the members of the LASPGHAN and examine the relation of case frequency to year, during the study period. MATERIALS AND METHODS: Latin American pediatric gastroenterologists participated in an online survey, conducted through the SurveyMonkey platform, that investigated the yearly frequency of new inflammatory bowel disease patients within the time frame of 2005 to 2016, their disease variety, the gastrointestinal segments affected, and the diagnostic and treatment methods utilized. The correlation of new case frequency with each study year was evaluated. RESULTS: A total of 607 patients were studied. The diagnoses were ulcerative colitis in 475 (78.3%) cases, Crohn's disease in 104 (17.1%), and inflammatory bowel disease D unclassified in 28 (4.6%). The trend in ulcerative colitis was a lineal increase in the frequency of new cases related to each study year, with a significant correlation coefficient. Pancolitis was found in 67.6% of the patients. The diagnostic methods included clinical data, endoscopy, and biopsies in more than 99% of the cases, and imaging studies were indicated selectively. Drug regimens were limited to 5-aminosalicylic acid derivatives, azathioprine, 6-mercaptopurine, infliximab, and adalimumab. CONCLUSIONS: Pediatric inflammatory bowel disease in Latin America appears to have increased during the years included in the study period, with a predominance of moderate or severe ulcerative colitis. That lineal trend suggests the predictive likelihood of a gradual increase in the coming years, with possible epidemiologic and clinical implications.

Cytokine distribution in mothers and breastfed children after omega-3 LCPUFAs supplementation during the last trimester of pregnancy and the lactation period: A randomized, controlled trial.

OBJECTIVE: To determine whether maternal diet supplementation with omega-3 long chain polyunsaturated fatty acids (omega-3 LC-PUFAs) during the last trimester of pregnancy and the breastfeeding period influences the levels of inflammatory cytokines in mother and infants. MATERIAL AND METHOD: This registered, double-blind randomized study included 46 pregnant women, who were randomly allocated to either an experimental group receiving 400mL/day of a fish oil-enriched dairy drink [320mg docosahexaenoic acid (DHA) + 72mg eicoapentaenoic acid] (FO group, n = 24) or to a control group receiving 400mL/day of a non-supplemented dairy drink (CT group, n = 22), from week 28 of pregnancy until the fourth month of lactation. During the study, maternal dietary patterns were monitored by a nutritionist, who encouraged compliance with current recommendations of fatty acids intake. DHA concentrations and cytokine levels (GM-CSF, IL-2, IL-4, IL-6, IL-10, INF-γ and TNF-α) were measured in maternal plasma at the moment of recruitment and in maternal (n = 46) and infant (n = 46) plasma at birth and 2.5 months after birth. RESULTS: Maternal plasmatic IL-4 levels were higher in FO than in CT subjects (p = 0.009). Additionally, a tendency was observed to higher IL-10 and IL-2 in the FO group. Plasmatic IL-6 however, was higher in CT mothers (p = 0.001). TNF-α was higher in CT infants at birth and 2.5 months after birth (p = 0.005). An analysis of possible relationships between DHA and the concentrations of different cytokines revealed negative correlation between maternal plasmatic IL-6 and DHA (higher plasmatic DHA corresponded to lower IL-6). CONCLUSIONS: Maternal dietary omega-3 LC-PUFAs supplementation during critical periods like pregnancy, lactation and early newborn development may influence the levels of certain inflammatory cytokines, reducing pro-inflammatory cytokines and promoting an anti-inflammatory "environment".

Síndrome de Alagille; una patología que tener en cuenta / Alagille syndrome. A pathology to be considered

El síndrome de Alagille es una patología poco frecuente. Afecta a uno de cada 100 000 recién nacidos vivos. Se caracteriza por una hipoplasia de vías biliares que se asocia a otras malformaciones. Se presenta el caso de un niño chino de cuatro años al que se le diagnosticó esta patología tras ser adoptado a los 11 meses de edad (AU)

Alagille syndrome is an uncommon pathology. It is found in 1/100,000 live births. It is characterized by biliary duct hypoplasia associated with other malformations. We report the case of a four-year-old Chinese child who was diagnosed with this pathology after being adopted at 11 months of age (AU)

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

BACKGROUND: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. AIMS: To update disease-causing mutations and current clinical knowledge of the disease. MATERIALS AND METHODS: Genetic and clinical information were obtained from a collection of both unreported and previously reported cases. RESULTS: We report 106 families, represented by 143 individuals, carrying a total of 36 genetic variants, 11 of them not previously known to be associated with the disease. Variants include 3 large deletions, 21 non-synonymous and 5 nonsense amino-acid changes, 5 frameshifts and 2 splice variants. We also report 5 patients from Gran Canaria, representing the largest known group of unrelated families sharing the same P406L mutation. CONCLUSIONS: Data analysis did not reveal a genotype-phenotype correlation, but stressed the need of early diagnosis: All patients improved the oculocutaneous lesions after dietary treatment but neurological symptoms prevailed. The discovery of founder mutations in isolated populations, and the benefits of early intervention, should increase diagnostic awareness in newborns.

Breastfeeding during the first 6 months of life, adiposity rebound and overweight/obesity at 8 years of age.

BACKGROUND: The question of whether breastfeeding protects the child from obesity is a still debated issue; however, the relationship between early adiposity rebound and higher risk of obesity is well known. This study was aimed at evaluating whether breastfeeding (without formula supplement) during the first 6 months of life delays the time of adiposity rebound and consequently reduces the rates of obesity at the age of 8. METHODS: This retrospective cohort study included 1812 children born in Gran Canaria in 2004, with follow-up until they were 8 years of age. Anthropometrical data had been taken during routine visits to the doctor and were extracted from medical record databases. Only children with breastfeeding for the first 6 months of life (173 children) and children without breastfeeding (192 children) were included. Children with mixed feeding and children whose data were not available were excluded. RESULTS: No body mass index (BMI) differences were found between children with breastfeeding (17.7) or without breastfeeding (17.3) during the first 6 months of life. The percentages of children with normal weight, overweight and obesity were similar in both groups, as well as the age of adiposity rebound breastfeeding 3.61 years; formula 3.64 years). Early adiposity rebound was associated with increased BMI at the age of 8, both in male and female children. CONCLUSIONS: Breastfeeding during the first 6 months of life was not demonstrated to delay the age of the adiposity rebound, in our study.

Effect of Zinc Intake on Growth in Infants: A Meta-analysis.

A systematic review and meta-analysis of available randomized controlled trials (RCTs) was conducted to evaluate the effect of zinc (Zn) intake on growth in infants. Out of 5500 studies identified through electronic searches and reference lists, 19 RCTs were selected after applying the exclusion/inclusion criteria. The influence of Zn intake on growth was considered in the overall meta-analysis. Other variables were also taken into account as possible effect modifiers: doses of Zn intake, intervention duration, nutritional status, and risk of bias. From each select growth study, final measures of weight, length, mid upper arm circumference (MUAC), head circumference, weight for age z-score (WAZ), length for age z-score (LAZ), and weight for length z-score (WLZ) were assessed. Pooled ß and 95% confidence interval (CI) were calculated. Additionally, we carried out a sensitivity analysis. Zn intake was not associated with weight, length, MUAC, head circumference, and LAZ in the pooled analyses. However, Zn intake had a positive and statistically effect on WAZ (ß = 0.06; 95%CI 0.02 to 0.10) and WLZ (ß = 0.05; 95%CI 0.01 to 0.08). The dose-response relationship between Zn intake and these parameters indicated that a doubling of Zn intake increased WAZ and WLZ by approximately 4%. Substantial heterogeneity was present only in length analyses (I(2) = 45%; p = 0.03). Zn intake was positively associated with length values at short time (four to 20 weeks) (ß = 0.01; CI 95% 0 to 0.02) and at medium doses of Zn (4.1 to 8 mg/day) (ß = 0.003; CI 95% 0 to 0.01). Nevertheless, the effect magnitude was small. Our results indicate that Zn intake increases growth parameters of infants. Nonetheless, interpretation of these results should be carefully considered.

Intolerancia a la lactosa / Lactose intolerance

La intolerancia a la lactosa (IL) es el síndrome de malabsorción más frecuente en la infancia y adolescencia. Se manifiesta con dolor, molestias abdominales, diarrea, flatulencia, distensión abdominal, náuseas e incluso vómitos. La lactosa es un disacárido presente en la leche que se hidroliza gracias a la acción de la lactasa-floricina-hidrolasa (LPH). Así, la IL se produce cuando, por diferentes circunstancias (transitorias como las infecciones o genéticas), la LPH disminuye/pierde su función induciendo una carencia en la digestión de la lactosa. Puesto que en esta situación se produce (en muchos casos) una retirada de lácteos, debe controlarse especialmente la ingestión de calcio y, por la particular dependencia de este, la densidad mineral ósea (DMO). La DMO es un factor relevante para prevenir la osteoporosis y, dado que una buena masa ósea en la etapa adulta dependerá del acopio efectuado durante la infancia, se debe prestar especial atención a los aspectos nutricionales. Para ello, existen diferentes opciones dietéticas como leche sin lactosa o de baja concentración además de bebidas vegetales o alimentos ricos en calcio; sin embargo, estas dos últimas opciones son inadecuadas nutricionalmente como sustitutivas de la leche (AU)

Lactose intolerance (LI) is the most common malabsorption syndrome in childhood and adolescence. It manifests itself as pain, abdominal trouble, diarrhoea, flatulence, abdominal distension, nausea and even vomiting. Lactose is a disaccharide present in milk which is hydrolysed through the action of lactase-phlorizin hydrolase (LPH). Thus, LI occurs when, for different reasons (transitory infections or genetic), the LPH diminishes/loses its function, inducing a deficiency in lactose digestion. As in this situation dairy products are often withdrawn, special care must be taken to monitor calcium intake and, due to its particular dependence on this, bone mineral density (BMD). BMD is an important factor in preventing osteoporosis and, as good bone mass in adulthood will depend on that built up in childhood, special attention must be paid to nutritional aspects. There are different dietary options for this purpose, such as lactose-free milk or milk with a low lactose content, as well as plant-based drinks or calcium-rich foods; however, the latter two options are nutritionally inadequate as milk substitutes (AU)

Análisis cuantitativo de la ingesta de nutrientes en niños menores de 3 años. Estudio ALSALMA / Quantitative analysis of nutrient intake in children under 3 years old. ALSALMA study

OBJETIVO: El objetivo del estudio fue analizar el patrón de alimentación de niños menores de 3 años y comparar los resultados con las recomendaciones de consumo energético y de nutrientes. PACIENTES Y MÉTODOS: En este estudio epidemiológico transversal, los padres completaron un diario dietético sobre el consumo de alimentos de sus hijos, durante 4 días no consecutivos. Se analizó la proporción de niños con ingestas medias inferiores a las recomendaciones para cada edad y nutriente, mediante el método «Estimated Average Requirement (EAR) cut-point method». RESULTADOS: Participaron 186 pediatras, que incluyeron a 1.701 niños. El 95,9% (n=1320) de los niños de 7 a 36 meses consumieron proteínas por encima del doble de las Recommended Dietary Allowances. Las deficiencias observadas (% < EAR) en los grupos de edad de 13-24 meses y 25-36 meses, respectivamente, fueron: vitamina D en el 81,7 y el 92,1%; vitamina E en el 39,3 y el 53,4%; ácido fólico en el el 12,5 y el 14,8%; calcio en el 10,1 y el 5,5%; yodo en el 27,1 y el 31%. Se observó que una mayor proporción en el consumo diario de proteínas (p = 0,013) y de hidratos de carbono (p < 0,0001), y una menor proporción de lípidos totales (p < 0,0001), estaban relacionadas con un mayor índice de masa corporal, independientemente del consumo energético. CONCLUSIONES: El estudio mostró una visión muy detallada de los patrones de alimentación de los niños españoles menores de 3 años. La promoción de una alimentación saludable debería ir dirigida a la corrección de los desequilibrios dietéticos detectados, para favorecer la salud futura de los niños

OBJECTIVE: The objective of the study was to analyze the nutritional patterns of children under three years of age and to compare the results against the recommendations for energy and nutrient intake. PATIENTS AND METHODS: In this cross-sectional epidemiological study, parents completed a dietary diary on their food intake of their children on 4 non-consecutive days. The percentage of children with mean intakes below the recommendations for each age and nutrient was analyzed using the 'Estimated Average Requirement (EAR) cut-point method.' RESULTS: A total of 186 pediatricians included 1701 children in the study. A total of 95.9% (n=1320) of the children between 7 and 36 months had a protein consumption more than twice that of the Recommended Daily Allowances. The deficiencies observed (% < EAR) in the age groups 13-24 months and 25-36 months, respectively, were: vitamin D in 81.7% and 92.1%; vitamin E in 39.3% and 53.4%; folic acid in 12.5% and 14.8%; calcium in 10.1% and 5.5%; iodine in 27.1% and 31%. It was observed that a higher percentage in the daily intake of proteins (P = .013) and of carbohydrates (P < .0001), and a lower percentage of total lipids (P < .0001), were related to a greater body mass index, regardless of energy intake. CONCLUSIONS: The study presents a very detailed view of the eating patterns of Spanish children less than three years of age. The encouragement of healthy feeding should be directed towards the correction of the dietary imbalances detected, in order to promote the future health of children

[Quantitative analysis of nutrient intake in children under 3 years old. ALSALMA study]. / Análisis cuantitativo de la ingesta de nutrientes en niños menores de 3 años. Estudio ALSALMA.

OBJECTIVE: The objective of the study was to analyze the nutritional patterns of children under three years of age and to compare the results against the recommendations for energy and nutrient intake. PATIENTS AND METHODS: In this cross-sectional epidemiological study, parents completed a dietary diary on their food intake of their children on 4 non-consecutive days. The percentage of children with mean intakes below the recommendations for each age and nutrient was analyzed using the "Estimated Average Requirement (EAR) cut-point method." RESULTS: A total of 186 pediatricians included 1701 children in the study. A total of 95.9% (n=1320) of the children between 7 and 36 months had a protein consumption more than twice that of the Recommended Daily Allowances. The deficiencies observed (% < EAR) in the age groups 13-24 months and 25-36 months, respectively, were: vitamin D in 81.7% and 92.1%; vitamin E in 39.3% and 53.4%; folic acid in 12.5% and 14.8%; calcium in 10.1% and 5.5%; iodine in 27.1% and 31%. It was observed that a higher percentage in the daily intake of proteins (P=.013) and of carbohydrates (P<.0001), and a lower percentage of total lipids (P<.0001), were related to a greater body mass index, regardless of energy intake. CONCLUSIONS: The study presents a very detailed view of the eating patterns of Spanish children less than three years of age. The encouragement of healthy feeding should be directed towards the correction of the dietary imbalances detected, in order to promote the future health of children.

Evaluación de la alimentación y consumo de nutrientes en menores de 3 años. Estudio piloto ALSALMA / Evaluation of diet and nutrient intake in children under three years old. ALSALMA pilot study

OBJETIVO: El objetivo de este estudio fue evaluar el consumo de energía y nutrientes en niños españoles menores de 3 años y comparar los resultados con las recomendaciones actuales, para comprobar si su ingesta era adecuada. PACIENTES Y MÉTODOS: Estudio piloto transversal. Las madres completaron un diario dietético sobre el consumo de alimentos de sus hijos, durante 4 días no consecutivos, registrando los productos y las cantidades consumidas. Se calcularon el consumo de nutrientes y los resultados se compararon con las Dietary Reference Intakes (DRI)) para cada grupo de edad. RESULTADOS: Se incluyó a 188 niños (93 niños, 95 niñas) con edades de 0-6 meses (41), 7-12 meses (24), 13-24 meses (57) y 25-36 meses (66). Se observaron diferencias estadísticamente significativas respecto a las DRI en el consumo de la mayoría de los nutrientes analizados. Destacó el exceso de consumo de proteínas, que alcanza el 376% de las DRI en los niños entre uno y 3 años. El 96% de los niños de 7 a 12 meses, el 88% de los niños de 13 a 24 meses y el 97% de los niños de 25 a 36 meses consumían proteínas por encima del doble de las DRI. CONCLUSIONES: La ingesta de nutrientes difirió de las DRI, especialmente en lo referido a las proteínas. Se debería evaluar si las desviaciones observadas en el estudio son extensibles a la población nacional de este grupo de edad en un estudio con una muestra representativa y las posibles repercusiones sobre la salud de los niños

OBJECTIVE: The present study evaluates energy and nutrient intake in Spanish children under three years of age, and compares the results with the current recommendations in order to identify possible inadequate nutrient intake. PATIENTS AND METHODS: A cross-sectional pilot study. The mothers completed a diet diary for four non-consecutive days, recording the products and amounts consumed by their children. Nutrient intake was calculated, and the results were compared with the dietary reference intakes (DRI) for each age group. RESULTS: A total of 188 children (93 boys and 95 girls) aged 0-6 (n=41), 7-12 (n=24), 13-24 (n=57), and 25-36 months (n=66) were included. Statistically significant differences in DRI were observed for most of the nutrients analyzed. Protein intake, in particular was 376% of DRI in children between 1-3 years of age. By age groups, 96% of the children aged 7-12 months, 88% of the children aged 13-24 months, and 97% of the children aged 25-36 months showed protein intakes more than two-fold DRI. CONCLUSIONS: Nutrient intake differed from the DRI, particularly as regards proteins. A new study is required to determine whether the observed study deviations could be representative of the national population of this age group, as well as the possible effects on child health

[Evaluation of diet and nutrient intake in children under three years old. ALSALMA pilot study]. / Evaluación de la alimentación y consumo de nutrientes en menores de 3 años. Estudio piloto ALSALMA.

OBJECTIVE: The present study evaluates energy and nutrient intake in Spanish children under three years of age, and compares the results with the current recommendations in order to identify possible inadequate nutrient intake. PATIENTS AND METHODS: A cross-sectional pilot study. The mothers completed a diet diary for four non-consecutive days, recording the products and amounts consumed by their children. Nutrient intake was calculated, and the results were compared with the dietary reference intakes (DRI) for each age group. RESULTS: A total of 188 children (93 boys and 95 girls) aged 0-6 (n=41), 7-12 (n=24), 13-24 (n=57), and 25-36 months (n=66) were included. Statistically significant differences in DRI were observed for most of the nutrients analyzed. Protein intake, in particular was 376% of DRI in children between 1-3 years of age. By age groups, 96% of the children aged 7-12 months, 88% of the children aged 13-24 months, and 97% of the children aged 25-36 months showed protein intakes more than two-fold DRI. CONCLUSIONS: Nutrient intake differed from the DRI, particularly as regards proteins. A new study is required to determine whether the observed study deviations could be representative of the national population of this age group, as well as the possible effects on child health.

Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): implementation rates and observed trends during the past 8 years.

BACKGROUND/OBJECTIVES: The home enteral nutrition (HEN) provides nutritional support to children with chronic diseases who are nutritionally compromised and allows them to be discharged more quickly from hospitals. In 2003, a web-based registry (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition -NEPAD-) was created with the objective of gathering information about pediatric HEN practices in Spain. AIM: The aim of this study was to report the implementation of the NEPAD (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition) registry of pediatric HEN in Spain and to analyze data evolution trends from 2003 to 2010. SUBJECTS/METHODS: The data from the Spanish NEPAD registry were analyzed according to the following variables: demographic data, diagnosis, indication for HEN, nutritional support regime and administration route. RESULTS: Over the study period, 952 patients (1048 episodes) from 20 Spanish hospitals were included in the NEPAD registry. The most frequent indication for HEN was decreased oral intake (64%), and neurological disease was the most prevalent illness. HEN was delivered via a nasogastric tube in 573 episodes (54.7%), by gastrostomy in 375 episodes (35.8%), oral feeding in 77 episodes (7.3%) and by jejunal access in 23 episodes (2.2%). Significant differences in the mode of administration were observed based on the pathology of the child (χ(2), P<0.0001). The cyclic feeding was the most widely used technique for the administration of HEN. Most of the patients used a pump and a polymeric formula. Transition to oral feeding was the primary reason for discontinuation of this type of support. CONCLUSIONS: Since the NEPAD registry was established in Spain, the number of documented patients has increased more than 25-fold. Many children with chronic illness benefit from HEN, mainly those suffering from neurological diseases.

Problemas nutricionales percibidos por los pediatras en niños españoles menores de 3 años / Nutritional problems perceived by pediatricians in Spanish children younger than 3 years

Introducción: Los padres son los principales responsables de la educación nutricional de sus hijos y es labor del pediatra orientar y resolver problemas al respecto. En este estudio se pretende conocer la relevancia de las cuestiones nutricionales en la consulta del pediatra y los principales problemas nutricionales percibidos en los menores de 3 años. Métodos: Estudio descriptivo, transversal en dos fases. La primera consistió en entrevistas y grupos de discusión con 30 pediatras seleccionados aleatoriamente en Madrid y Barcelona. Los resultados se utilizaron para diseñar el cuestionario online (76 preguntas relacionadas con la nutrición en niños de 0-3 años) de la siguiente fase, en la que participaron pediatras seleccionados de forma aleatoria y representativa del territorio nacional. Resultados: De 258 pediatras seleccionados, completaron el cuestionario 151, que atendían a una media de 588 pacientes/mes. Los principales problemas nutricionales percibidos hasta los 12 meses fueron las deficiencias de hierro y vitaminas y la escasa ganancia de peso, y posteriormente la ingesta excesiva de carbohidratos y lípidos y el sobrepeso. Los padres fueron considerados los actores principales en la salud nutricional de sus hijos, pero su preocupación por esta cuestión se reduce significativamente (p < 0,0001) con la edad del niño. Los aspectos considerados más importantes para obtener unos buenos hábitos alimentarios fueron la alimentación adaptada a las necesidades del niño y respetar el tiempo de sueño. El porcentaje de pacientes que recibe recomendaciones de hábitos nutricionales varió del 88% (0-6 meses) al 61% (24-36 meses). Conclusiones: A pesar de considerar la salud nutricional importante, la intervención educativa del pediatra al respecto no es óptima. Los problemas nutricionales percibidos fueron distintos según la edad (AU)

Introduction: Parents are most responsible for nutritional education of children, and pediatritians must advise and help them with their doubts. The purpose of this study was to know the relevance of nutritional topics in daily practice and the main nutritional problems perceived by pediatritians in children under 3 years of age. Methods: Descriptive, cross-sectional study performed in 2 stages. First stage consisted on discussion meetings with 30 random-selected pediatritians from Madrid and Barcelona. Results were used to design the on-line questionnaire of the second stage (76 questions related to nutrition in children under 3 years). A random and representative sample of Spanish pediatritians was selected for this stage. Results: One hundred and fifty one pediatritians, among 258 sampled, completed the questionnaire. They referred to see a mean of 588 patients/month. The main perceived nutritional problems in the first year of life were iron and vitamin deficiencies and poor weight gain. In the next months, excess in carbohydrates and lipid intake and overweight were the main problems perceived. Parents were considered the main actors regarding their children's nutritional health, but their concern in these questions significantly reduced with children's age (p < 0,0001). Factors considered to have the greatest relevance in the acquisition of good nutritional habits were to provide a diet adjusted for children's requirements and to observe the appropriate sleeping hours. The proportion of children who receive nutritional counseling varied from 88% (0-6 months) to 61% (24-36 months). Conclusions: Despite of the relevance given by pediatritians, educational intervention regarding nutritional health is not ideal. Nutritional problems perceived by pediatritians varied with children's age (AU)

Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España / Epidemiological study of the metabolic diseases with homocystinuria in Spain

Objetivos: Conocer la prevalencia en España de los diferentes errores congénitos del metabolismo que presentan homocistinuria y establecer las medidas oportunas para garantizar su prevención, diagnóstico y tratamiento, en aquellos casos posibles. Material y métodos: En abril 2009 se realizó una encuesta nacional de carácter transversal mediante cuestionario enviado a 35 centros, en los que se atiende a pacientes infantiles y adultos. La finalidad de la encuesta era establecer la prevalencia en ese momento recogiendo el histórico de pacientes que cada centro tuviera documentados. Resultados: A través de los cuestionarios respondidos por 25 médicos de 16 centros, se han identificado 75 pacientes: 41 defectos de transulfuración (uno fallecido), 27 de remetilación (6 fallecidos) y 7 sin diagnóstico etiológico definitivo. La edad de diagnóstico muestra una amplia variación, en 18 casos había más de un hermano afectado. Las manifestaciones clínicas más graves inciden en el grupo de los pacientes afectados de trastornos de la remetilación. Destaca el alto porcentaje de déficit cognitivo, seguido de la patología de cristalino; casi la mitad de los pacientes presentan trastornos neurológicos, es elevada la afectación vascular en los adultos con deficiencia de CBS; las opciones terapéuticas más utilizadas han sido el ácido fólico, la hidroxicobalamina y la betaína. Conclusiones: A la vista de estos resultados, y en especial del escaso número de deficiencias de CBS detectadas, se concluye la necesidad de implantar el cribado neonatal para la homocistinuria clásica y asegurar la puesta en marcha del proceso diagnóstico oportuno en todos los pacientes de riesgo(AU)

Objectives: To determine the prevalence of homocystinuria in Spain and to establish the measures and mechanisms to ensure its prevention, diagnosis and treatment. Material and methods: A national cross-sectional survey was conducted by means of a questionnaire sent to 35 hospitals in which children and adult patients are treated. Results: Using the questionnaires submitted by 25 physicians from 16 centres, 75 patients were identified: 41 transsulphuration defects (one deceased), 27 remethylation (six deaths) and 7 without a syndromic diagnosis. The age at diagnosis varied widely, and 18 cases had more than one sibling affected. The more severe clinical manifestations involved the patients with remethylation defects. There was a high percentage of cognitive impairment, followed by lens diseases. Almost half of the patients had neurological disorders. There was increased vascular involvement in CBS-deficient adults. The therapeutic options most used were, folic acid, hydroxycobalamin and betaine. Conclusions: In view of these results and especially the small number of CBS deficiencies detected, we conclude that there is a need to introduce newborn screening for classical homocystinuria and ensure implementation of an appropriate diagnostic workup in all patients at risk(AU)

[Nutritional problems perceived by pediatricians in Spanish children younger than 3 years]. / Problemas nutricionales percibidos por los pediatras en niños Españoles menores de 3 años.

INTRODUCTION: Parents are most responsible for nutritional education of children, and pediatricians must advise and help them with their doubts. The purpose of this study was to know the relevance of nutritional topics in daily practice and the main nutritional problems perceived by pediatricians in children under 3 years of age. METHODS: Descriptive, cross-sectional study performed in 2 stages. First stage consisted on discussion meetings with 30 random-selected pediatricians from Madrid and Barcelona. Results were used to design the on-line questionnaire of the second stage (76 questions related to nutrition in children under 3 years). A random and representative sample of Spanish pediatricians was selected for this stage. RESULTS: One hundred and fifty one pediatricians, among 258 sampled, completed the questionnaire. They referred to see a mean of 588 patients/month. The main perceived nutritional problems in the first year of life were iron and vitamin deficiencies and poor weight gain. In the next months, excess in carbohydrates and lipid intake and overweight were the main problems perceived. Parents were considered the main actors regarding their children's nutritional health, but their concern in these questions significantly reduced with children's age (p < 0,0001). Factors considered to have the greatest relevance in the acquisition of good nutritional habits were to provide a diet adjusted for children's requirements and to observe the appropriate sleeping hours. The proportion of children who receive nutritional counseling varied from 88% (0-6 months) to 61% (24-36 months). CONCLUSIONS: Despite of the relevance given by pediatricians, educational intervention regarding nutritional health is not ideal. Nutritional problems perceived by pediatricians varied with children's age.

[Epidemiological study of the metabolic diseases with homocystinuria in Spain]. / Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España.

OBJECTIVES: To determine the prevalence of homocystinuria in Spain and to establish the measures and mechanisms to ensure its prevention, diagnosis and treatment. MATERIAL AND METHODS: A national cross-sectional survey was conducted by means of a questionnaire sent to 35 hospitals in which children and adult patients are treated. RESULTS: Using the questionnaires submitted by 25 physicians from 16 centres, 75 patients were identified: 41 transsulphuration defects (one deceased), 27 remethylation (six deaths) and 7 without a syndromic diagnosis. The age at diagnosis varied widely, and 18 cases had more than one sibling affected. The more severe clinical manifestations involved the patients with remethylation defects. There was a high percentage of cognitive impairment, followed by lens diseases. Almost half of the patients had neurological disorders. There was increased vascular involvement in CBS-deficient adults. The therapeutic options most used were, folic acid, hydroxycobalamin and betaine. CONCLUSIONS: In view of these results and especially the small number of CBS deficiencies detected, we conclude that there is a need to introduce newborn screening for classical homocystinuria and ensure implementation of an appropriate diagnostic workup in all patients at risk.

Recomendaciones para el tratamiento del estreñimiento funcional / Guidelines for the treatment of functional constipation

El estreñimiento es un problema clínico frecuente. Afecta del 2 al 30% de los niños, según el criterio diagnóstico utilizado. El tratamiento recomendado se basa en: a) explicación-desmitificación; b) desimpactación fecal y c) mantenimiento con cambios en la dieta, modificación de los hábitos higiénicos y el uso de laxantes. En la última década ha variado el sistema de vaciado intestinal; de la clásica vía rectal hemos pasado al uso generalizado de la vía oral a base de polietilenglicol 3350.Se debe tener en cuenta las necesidades individuales y las preferencias del paciente. El tratamiento de mantenimiento se iniciará inmediatamente después de lograr el vaciado intestinal. Está basado en la modificación de los hábitos dietéticos, higiénicos y en el uso de laxantes. Una adecuada ingesta de fibra y agua, el entrenamiento del hábito defecatorio y el uso de laxantes orales logra una defecación diaria y no dolorosa, evitando la reacumulación de heces. El uso de enemas puede ser efectivo para la desimpactación, pero tiene el riesgo de lesión traumática y no es adecuado para el tratamiento de mantenimiento. Los laxantes recomendados son los osmóticos. El tratamiento de primera elección en niños de cualquier edad es el polietilenglicol 3350 por su seguridad, efectividad y tolerancia. Su dosis varia entre 0,25 a 1,5g/kg. El mejor conocimiento de la fisiología de la defecación ha permitido el desarrollo de nuevos fármacos: bloqueantes de los receptores de la serotonina o activadores de los canales del cloro (AU)

Constipation is common in childhood. It can affect around 5–30% of the child population, depending on the criteria used for diagnosis. The currently recommended treatment is based on three main points: a) explanation, b) disimpaction and c) maintenance therapy consisting of diet changes, behavioural modification, and the use of laxatives. In the last decades treatment on disimpaction have changed radically from the rectal route to the oral route with polyethylene glycol 3350 (PEG), the most used and accepted regimen nowadays. Treatment and care should take into account the individual needs and preferences of the patient. Good communication is essential, to allow patients to reach informed decisions about their care. Maintenance therapy consists of dietary interventions, toilet training, and laxatives to obtain daily painless defaecation in order to prevent re-accumulation of stools. Maintenance therapy should be start as soon as the child's bowel is disimpacted. Early intervention with oral laxatives may improve complete resolution of functional constipation. Enemas using phosphate, mineral oil, or normal saline are effective in relieving rectal impaction, but carry the risk of mechanical trauma and are not recommended for maintenance therapy in the paediatric population. Among osmotic agents, polyethylene glycol 3350 plus electrolyte solutions appear to be the first-line drug treatment to use in children of any age, as it is safe, effective, and well-tolerated. Recommended doses ranges from 0.25 to 1.5g/kg. Advances in the understanding of the gastrointestinal enteric nervous system and epithelial function have led to the development of new substances that bind to serotonin receptors or are chloride channel activators (AU)

[Guidelines for the treatment of functional constipation]. / Recomendaciones para el tratamiento del estreñimiento funcional.

Constipation is common in childhood. It can affect around 5-30% of the child population, depending on the criteria used for diagnosis. The currently recommended treatment is based on three main points: a) explanation, b) disimpaction and c) maintenance therapy consisting of diet changes, behavioural modification, and the use of laxatives. In the last decades treatment on disimpaction have changed radically from the rectal route to the oral route with polyethylene glycol 3350 (PEG), the most used and accepted regimen nowadays. Treatment and care should take into account the individual needs and preferences of the patient. Good communication is essential, to allow patients to reach informed decisions about their care. Maintenance therapy consists of dietary interventions, toilet training, and laxatives to obtain daily painless defaecation in order to prevent re-accumulation of stools. Maintenance therapy should be start as soon as the child's bowel is disimpacted. Early intervention with oral laxatives may improve complete resolution of functional constipation. Enemas using phosphate, mineral oil, or normal saline are effective in relieving rectal impaction, but carry the risk of mechanical trauma and are not recommended for maintenance therapy in the paediatric population. Among osmotic agents, polyethylene glycol 3350 plus electrolyte solutions appear to be the first-line drug treatment to use in children of any age, as it is safe, effective, and well-tolerated. Recommended doses ranges from 0.25 to 1.5g/kg. Advances in the understanding of the gastrointestinal enteric nervous system and epithelial function have led to the development of new substances that bind to serotonin receptors or are chloride channel activators.

Hígado graso no alcoholic y obesidad infanto-juvenil / Nonalcoholic fatty liver and infant-child obesity

El hígado graso no alcohólico (NAFLD) se define como la acumulación macrovesicular de grasa superior al 5% de los hepatocitos y se engloba en este término la esteatosis simple, la esteatohepatitis no alcohólica (NASH) con inflamación, varios grados de fibrosis o ambas y la cirrosis. En la actualidad no existe consenso sobre el tratamiento en NAFLD/NASH. Básicamente consistirá en evitar el consumo de alcohol, reducir la grasa hepática y el estrés oxidativo, para prevenir el desarrollo de fibrosis, que podría conllevar cirrosis e hipertensión portal (AU)

Non-alcoholic fatty liver disease (NAFLD) is defined as the macrovesicular fat accumulation greater than 5% of the hepatocytes and this term includes the simple steatosis, non-alcoholic steatoheatitis (NAS with inflammation, several grades of fibrosis or both and cirrosis. Currently, there is no consensus on the treatment of NAFLD/NASH. Basically, it would consist in avoiding alcohol consumption, reducing it would consist in avoiding alcohol consumption, reducing liver fat and oxidative stress, to prevent the development of fibrosis, that could lead to cirrhosis and portal hypertension (AU)