Incorporación del dietista-nutricionista en un hospital universitario: declaración de postura de la Comisión de Nutrición del Hospital Universitario La Paz / Dietitian-nutritionist incorporation in a university hospital: position statement of the Commission on Nutrition, Hospital Universitario La Paz

El presente documento tiene como objetivo plantear y justificar la incorporación del dietista-nutricionista en los equipos multidisciplinares deatención integrada en la educación, el tratamiento y el seguimiento de aquellos pacientes con patologías que cursen con alteraciones del estadonutricional, tanto en su defecto como en su exceso, en el área sanitaria de la Comunidad Autónoma de Madrid.El estado nutricional de los pacientes hospitalizados se beneficiará de la incorporación del dietista-nutricionista al equipo multidisciplinar que,actualmente, se ocupa de la atención de estos. El manejo de la terapia nutricional por dietistas-nutricionistas ha demostrado ser costo-efectiva,habida cuenta de la repercusión sanitaria que tiene el estado nutricional en la evolución clínica y prevención de enfermedades como la diabetes,los trastornos de la conducta alimentaria, la obesidad, el cáncer, la insuficiencia cardiaca, la osteoporosis, la enfermedad celiaca y la enfermedadrenal crónica, entre otras.(AU)

The present document has the objective of justifying the incorporation of a dietician/nutritionist to the multidisciplinary teams of specialized carethat provide education, food anamnesis, nutritional recommendations, treatment and follow up of those patients in risk of malnutrition in Madrid.The appropriate nutritional status of hospitalized patients bears a close relationship with the existence of dieticians at hospitals. Dieticians usenutrition therapy as a cost-effective means to achieve significant health benefits by preventing or altering the course of diabetes, obesity, hyper-tension, lipid metabolism disorders, heart failure, osteoporosis, celiac disease, and chronic kidney disease, among other diseases.(AU)

Dietitian-nutritionist incorporation in a university hospital: position statement of the Commission on Nutrition, Hospital Universitario La Paz.

Introduction: The present document has the objective of justifying the incorporation of a dietician/nutritionist to the multidisciplinary teams of specialized care that provide education, food anamnesis, nutritional recommendations, treatment and follow up of those patients in risk of malnutrition in Madrid. The appropriate nutritional status of hospitalized patients bears a close relationship with the existence of dieticians at hospitals. Dieticians use nutrition therapy as a cost-effective means to achieve significant health benefits by preventing or altering the course of diabetes, obesity, hypertension, lipid metabolism disorders, heart failure, osteoporosis, celiac disease, and chronic kidney disease, among other diseases.

Introducción: El presente documento tiene como objetivo plantear y justificar la incorporación del dietista-nutricionista en los equipos multidisciplinares de atención integrada en la educación, el tratamiento y el seguimiento de aquellos pacientes con patologías que cursen con alteraciones del estado nutricional, tanto en su defecto como en su exceso, en el área sanitaria de la Comunidad Autónoma de Madrid. El estado nutricional de los pacientes hospitalizados se beneficiará de la incorporación del dietista-nutricionista al equipo multidisciplinar que, actualmente, se ocupa de la atención de estos. El manejo de la terapia nutricional por dietistas-nutricionistas ha demostrado ser costo-efectiva, habida cuenta de la repercusión sanitaria que tiene el estado nutricional en la evolución clínica y prevención de enfermedades como la diabetes, los trastornos de la conducta alimentaria, la obesidad, el cáncer, la insuficiencia cardiaca, la osteoporosis, la enfermedad celiaca y la enfermedad renal crónica, entre otras.

Documento de consenso para la determinación e informe del perfil lipídico en laboratorios clínicos españoles / Consensus document for lipid profile determination and reporting in Spanish clinical laboratories. What parameters should be included in a basic lipid profile?

Las enfermedades cardiovasculares (ECV) siguen siendo la principal causa de muerte en nuestro país. El control adecuado de las alteraciones del metabolismo lipídico es un reto clave en prevención cardiovascular que está lejos de alcanzarse en la práctica clínica real. Existe una gran heterogeneidad en los informes del metabolismo lipídico de los laboratorios clínicos españoles, lo que puede contribuir al mal control del mismo. Por ello, un grupo de trabajo de las principales sociedades científicas implicadas en la atención de los pacientes de riesgo vascular hemos elaborado este documento con una propuesta básica de consenso sobre la determinación del perfil lipídico básico en prevención cardiovascular, recomendaciones para su realización y unificación de criterios para incorporar los objetivos de control lipídico adecuados al riesgo vascular de los pacientes en los informes de laboratorio (AU)

Cardiovascular diseases (CVD) continue to be the main cause of death in our country. Adequate control of lipid metabolism disorders is a key challenge in cardiovascular prevention that is far from being achieved in real clinical practice. There is a great heterogeneity in the reports of lipid metabolism from Spanish clinical laboratories, which may contribute to its poor control. For this reason, a working group of the main scientific societies involved in the care of patients at vascular risk, has prepared this document with a consensus proposal on the determination of the basic lipid profile in cardiovascular prevention, recommendations for its realization and unification of criteria to incorporate the lipid control goals appropriate to the vascular risk of the patients in the laboratory reports (AU)

Documento de consenso para la determinación e informe del perfil lipídico en laboratorios clínicos españoles / Consensus document for lipid profile determination and reporting in Spanish clinical laboratories. What parameters should be included in a basic lipid profile?

Las enfermedades cardiovasculares (ECV) siguen siendo la principal causa de muerte en nuestro país. El control adecuado de las alteraciones del metabolismo lipídico es un reto clave en prevención cardiovascular que está lejos de alcanzarse en la práctica clínica real. Existe una gran heterogeneidad en los informes del metabolismo lipídico de los laboratorios clínicos españoles, lo que puede contribuir al mal control del mismo. Por ello, un grupo de trabajo de las principales sociedades científicas implicadas en la atención de los pacientes de riesgo vascular hemos elaborado este documento con una propuesta básica de consenso sobre la determinación del perfil lipídico básico en prevención cardiovascular, recomendaciones para su realización y unificación de criterios para incorporar los objetivos de control lipídico adecuados al riesgo vascular de los pacientes en los informes de laboratorio. (AU)

Cardiovascular diseases (CVD) continue to be the main cause of death in our country. Adequate control of lipid metabolism disorders is a key challenge in cardiovascular prevention that is far from being achieved in real clinical practice. There is a great heterogeneity in the reports of lipid metabolism from Spanish clinical laboratories, which may contribute to its poor control. For this reason, a working group of the main scientific societies involved in the care of patients at vascular risk, has prepared this document with a consensus proposal on the determination of the basic lipid profile in cardiovascular prevention, recommendations for its realization and unification of criteria to incorporate the lipid control goals appropriate to the vascular risk of the patients in the laboratory reports. (AU)

Consensus document for lipid profile testing and reporting in Spanish clinical laboratories.

Cardiovascular diseases (CVD) continue to be the main cause of death in our country. Adequate control of lipid metabolism disorders is a key challenge in cardiovascular prevention that is far from being achieved in real clinical practice. There is a great heterogeneity in the reports of lipid metabolism from Spanish clinical laboratories, which may contribute to its poor control. For this reason, a working group of the main scientific societies involved in the care of patients at vascular risk, has prepared this document with a consensus proposal on the determination of the basic lipid profile in cardiovascular prevention, recommendations for its realization and unification of criteria to incorporate the lipid control goals appropriate to the vascular risk of the patients in the laboratory reports.

Consensus document for lipid profile testing and reporting in Spanish clinical laboratories: What parameters should a basic lipid profile include?

Cardiovascular diseases (CVD) continue to be the main cause of death in our country. Adequate control of lipid metabolism disorders is a key challenge in cardiovascular prevention that is far from being achieved in real clinical practice. There is a great heterogeneity in the reports of lipid metabolism from Spanish clinical laboratories, which may contribute to its poor control. For this reason, a working group of the main scientific societies involved in the care of patients at vascular risk, has prepared this document with a consensus proposal on the determination of the basic lipid profile in cardiovascular prevention, recommendations for its realization and unification of criteria to incorporate the lipid control goals appropriate to the vascular risk of the patients in the laboratory reports.

Nutrition in congenital heart disease: consensus document.

INTRODUCTION: The prevalence of malnutrition among infants with congenital heart disease (CHD) is high. Early nutritional assessment and intervention contribute significantly to its treatment and improve outcomes. Our objective was to develop a consensus document for the nutritional assessment and management of infants with CHD. MATERIAL AND METHODS: We employed a modified Delphi technique. Based on the literature and clinical experience, a scientific committee prepared a list of statements that addressed the referral to paediatric nutrition units (PNUs), assessment, and nutritional management of infants with CHD. Specialists in paediatric cardiology and paediatric gastroenterology and nutrition evaluated the questionnaire in 2 rounds. RESULTS: Thirty-two specialists participated. After two evaluation rounds, a consensus was reached for 150 out of 185 items (81%). Cardiac pathologies associated with a low and high nutritional risk and associated cardiac or extracardiac factors that carry a high nutritional risk were identified. The committee developed recommendations for assessment and follow-up by nutrition units and for the calculation of nutritional requirements, the type of nutrition and the route of administration. Particular attention was devoted to the need for intensive nutrition therapy in the preoperative period, the follow-up by the PNU during the postoperative period of patients who required preoperative nutritional care, and reassessment by the cardiologist in the case nutrition goals are not achieved. CONCLUSIONS: These recommendations can be helpful for the early detection and referral of vulnerable patients, their evaluation and nutritional management and improving the prognosis of their CHD.

La nutrición en las cardiopatías congénitas: Documento de consenso / Nutrition in congenital heart disease: Consensus document

Introducción: La tasa de desnutrición entre los lactantes con cardiopatías congénitas (CC) es elevada. Una evaluación e intervención nutricional tempranas ayudan a su tratamiento y mejoran el pronóstico. El objetivo fue elaborar un documento de consenso para la evaluación y el tratamiento nutricional del lactante con CC. Material y métodos: Se utilizó una técnica Delphi modificada. Con base en la literatura y en su experiencia clínica, un comité científico elaboró un listado de afirmaciones que abordaban la derivación a unidades de nutrición pediátrica (UNP), la evaluación y el manejo nutricional de los lactantes con CC. Especialistas en cardiología pediátrica, y gastroenterología y nutrición pediátrica evaluaron el cuestionario en dos rondas. Resultados: Participaron 32 especialistas. Tras dos rondas de evaluación, se consensuaron 150 de 185 ítems (81%). Se determinaron patologías cardiacas de bajo y alto riesgo nutricional y factores asociados cardiacos o extracardiacos que confieren riesgo nutricional alto. Se elaboraron recomendaciones para la evaluación y seguimiento en unidades de nutrición y sobre el cálculo de los requerimientos nutricionales, el tipo de nutrición y la vía de administración. Se enfatiza la necesidad de un tratamiento nutricional intensivo en el preoperatorio, del seguimiento por la UNP en el postoperatorio cuando se haya necesitado intervención preoperatoria, y de la reevaluación por el cardiólogo cuando no se alcancen los objetivos nutricionales. Conclusiones: Estas recomendaciones pueden ser de ayuda para la detección precoz y derivación temprana de población vulnerable, su evaluación y tratamiento nutricional y para mejorar el pronóstico de su CC. (AU)

Introduction: The prevalence of malnutrition among infants with congenital heart disease (CHD) is high. Early nutritional assessment and intervention contribute significantly to its treatment and improve outcomes. Our objective was to develop a consensus document for the nutritional assessment and management of infants with CHD. Material and methods: We employed a modified Delphi technique. Based on the literature and clinical experience, a scientific committee prepared a list of statements that addressed the referral to paediatric nutrition units (PNUs), assessment, and nutritional management of infants with CHD. Specialists in paediatric cardiology and paediatric gastroenterology and nutrition evaluated the questionnaire in 2 rounds. Results: Thirty-two specialists participated. After two evaluation rounds, a consensus was reached for 150 out of 185 items (81%). Cardiac pathologies associated with a low and high nutritional risk and associated cardiac or extracardiac factors that carry a high nutritional risk were identified. The committee developed recommendations for assessment and follow-up by nutrition units and for the calculation of nutritional requirements, the type of nutrition and the route of administration. Particular attention was devoted to the need for intensive nutrition therapy in the preoperative period, the follow-up by the PNU during the postoperative period of patients who required preoperative nutritional care, and reassessment by the cardiologist in the case nutrition goals are not achieved. Conclusions: These recommendations can be helpful for the early detection and referral of vulnerable patients, their evaluation and nutritional management and improving the prognosis of their CHD. (AU)

Documento de consenso para la determinación e informe del perfil lipídico en laboratorios clínicos españoles / Consensus document for lipid profile determination and reporting in Spanish clinical laboratories. What parameters should be included in a basic lipid profile?

Las enfermedades cardiovasculares (ECV) siguen siendo la principal causa de muerte en nuestro país. El control adecuado de las alteraciones del metabolismo lipídico es un reto clave en prevención cardiovascular que está lejos de alcanzarse en la práctica clínica real. Existe una gran heterogeneidad en los informes del metabolismo lipídico de los laboratorios clínicos españoles, lo que puede contribuir al mal control del mismo. Por ello, un grupo de trabajo de las principales sociedades científicas implicadas en la atención de los pacientes de riesgo vascular hemos elaborado este documento con una propuesta básica de consenso sobre la determinación del perfil lipídico básico en prevención cardiovascular, recomendaciones para su realización y unificación de criterios para incorporar los objetivos de control lipídico adecuados al riesgo vascular de los pacientes en los informes de laboratorio.(AU)

Cardiovascular diseases (CVD) continue to be the main cause of death in our country. Adequate control of lipid metabolism disorders is a key challenge in cardiovascular prevention that is far from being achieved in real clinical practice. There is a great heterogeneity in the reports of lipid metabolism from Spanish clinical laboratories, which may contribute to its poor control. For this reason, a working group of the main scientific societies involved in the care of patients at vascular risk, has prepared this document with a consensus proposal on the determination of the basic lipid profile in cardiovascular prevention, recommendations for its realization and unification of criteria to incorporate the lipid control goals appropriate to the vascular risk of the patients in the laboratory reports.(AU)

Consensus document for lipid profile determination and reporting in Spanish clinical laboratories. What parameters should be included in a basic lipid profile? / Documento de consenso para la determinación e informe del perfil lipídico en laboratorios clínicos españoles: ¿Qué parámetros debe incluir un perfil lipídico básico?

Cardiovascular diseases (CVD) continue to be the main cause of death in our country. Adequate control of lipid metabolism disorders is a key challenge in cardiovascular prevention that is far from being achieved in real clinical practice. There is a great heterogeneity in the reports of lipid metabolism from Spanish clinical laboratories, which may contribute to its poor control. For this reason, a working group of the main scientific societies involved in the care of patients at vascular risk, has prepared this document with a consensus proposal on the determination of the basic lipid profile in cardiovascular prevention, recommendations for its realization and unification of criteria to incorporate the lipid control goals appropriate to the vascular risk of the patients in the laboratory reports.

Documento de consenso para la determinación e informe del perfil lipídico en laboratorios clínicos españoles ¿Qué parámetros debe incluir un perfil lípido básico? / Consensus document to determine and report the lipid profile in spanish clinical laboratories. Which parameters should a basic lipid profile include?

Las enfermedades cardiovasculares (ECV) siguen siendo la principal causa de muerte en nuestro país. El control adecuado de las alteraciones del metabolismo lipídico es un reto clave en prevención cardiovascular que está lejos de alcanzarse en la práctica clínica real. Existe una gran heterogeneidad en los informes del metabolismo lipídico de los laboratorios clínicos españoles, lo que puede contribuir al mal control del mismo. Por ello, un grupo de trabajo de las principales sociedades científicas implicadas en la atención de los pacientes de riesgo vascular, hemos elaborado este documento con una propuesta básica de consenso sobre la determinación del perfil lipídico básico en prevención cardiovascular, recomendaciones para su realización y unificación de criterios para incorporar los objetivos de control lipídico adecuados al riesgo vascular de los pacientes en los informes de laboratorio.(AU)

Cardiovascular diseases (CVD) continue to be the main cause of death in Spain. Adequate control of lipid metabolism disorders is a key challenge in cardiovascular prevention that is far from achieved in real clinical practice. There is a major heterogeneity in the reports of lipid metabolism from Spanish clinical laboratories, which may contribute to its poor monitoring. For this reason, a working group of the main scientific societies involved in the care of patients at vascular risk, has drawn up this document with a consensus proposal on the determination of the basic lipid profile in cardiovascular prevention, recommendations for its implementation and combining the criteria to incorporate the lipid monitoring goals suitable for the vascular risk of the patients in the laboratory reports.(AU)

Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.

OBJECTIVES: We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA/MMA/MMAHC) since the Expanded Newborn Screening was implemented in Madrid Region. METHODS: Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by MS/MS. Newborns with alterations were referred to the clinical centers for follow-up. Biochemical and molecular genetic studies for confirmation of a disease were performed. RESULTS: In the period 2011-2020, 588,793 children were screened, being 953 of them were referred to clinical units for abnormal result (192 for elevated C3 levels). Among them, 88 were false positive cases, 85 maternal vitamin B12 deficiencies and 19 were confirmed to suffer an IEM (8 PA, 4 MMA, 7 MMAHC). Ten out 19 cases displayed symptoms before the NBS results (6 PA, 1 MMA, 3 MMAHC). C3, C16:1OH+C17 levels and C3/C2 and C3/Met ratios were higher in newborns with PA/MMA/MMAHC. Cases diagnosed with B12 deficiency had mean B12 levels of 187.6 ± 76.9 pg/mL and their mothers 213.7 ± 95.0; 5% of the mothers were vegetarian or had poor eating while 15% were diagnosed of pernicious anemia. Newborns and their mothers received treatment with B12 with different posology, normalizing their levels and the secondary alterations disappeared. CONCLUSIONS: Elevated C3 are a frequent cause for abnormal result in newborn screening with a high rate of false positive cases. Presymptomatic diagnosis of most of PA and some MMA/MMAHC is difficult. Vitamin B12 deficiency secondary to maternal deprivation is frequent with an heterogenous clinical and biochemical spectrum.

Benefits of dietary fibre for children in health and disease.

Fibre is an essential nutrient in the human diet that is crucial for human health. It provides a range of functional benefits, including stool bulking, and physiological benefits through fermentation of diverse fibre types by the gut microbiome including cholesterol lowering, glycaemic control and weight control. The by-products of the fermentation of fibre in the gut confer health benefits that extend beyond the gut to the immune system and organs such as the liver, kidneys and the brain. A lack of fibre in the diet has been associated with several disorders in children including constipation, irritable bowel syndrome, allergies and immune-related disorders. In paediatric practice, concerns exist over tolerance of dietary fibre which may lead to unnecessary restrictions, especially for children receiving nutritional support. One reason for this may be the terminology which has historically been used. Fibre is often described in terms of its physico-chemical properties (solubility, viscosity), rather than its physiological effects/functionality (fermentability, bulking effects). To describe fibre in these latter terms represents more clearly the important role it plays. Most international guidelines recommend a daily quantity of fibre, failing to mention the quality aspect of the fibre required for health. Here we consider the evidence base for the current recommendations for daily fibre intakes for healthy children, those requiring nutritional support and those with functional gastrointestinal disorders. We also consider the importance of the gut microbiome and the role of fibre in maintaining gut microbial health and its role in health beyond the gut.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by mass spectrometry (MS)/MS. Newborns with alterations were referred to the clinical centers for follow-up. Biochemical and molecular genetic studies for confirmation of a disease were performed. In the period 2011 to 2019, 592 822 children were screened: 902 of them were referred for abnormal results. An IEM was confirmed in 222 (1/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect, and 2 primapterinuria), 6 hypermethioninemia, 3 tyrosinemia type 1 (TYR-1), 1 TYR-3, 4 maple syrup urine disease (MSUD), 2 branched-chain amino acid transferase 2 deficiency, 2 homocystinuria, 1 cystinuria, 2 ornithine transcarbamylase (OTC) deficiency, 2 citrullinemia type I (CTLN1); FAO defects: 43 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 13 very long-chain acyl-CoA dehydrogenase deficiency, 2 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), 1 multiple acyl-coA dehydrogenation deficiency, 11 systemic primary carnitine deficiency, 2 carnitine palmitoyltransferase type 2 (CPT-II) deficiency, 1 CPT-I deficiency; organic acidurias: 12 glutaric aciduria type 1 (GA-1), 4 methylmalonic acidemia (MMA), 7 MMA including combined cases with homocystinuria (MMAHC), 6 propionic acidemia (PA), 7 3-methylcrotonyl-CoA carboxylase, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency lyase deficiency. Only 19 infants (8.5%) were symptomatic at newborn screening result (1 LCHADD, 5 PA, 1 CPT-II deficiency, 1 MMA, 3 MMAHC, 2 MSUD, 2 OTC deficiency, 1 CTLN1, 1 MCADD, 2 TYR-1). No false negative cases were identified. Genetic diagnosis was conclusive in all biochemically confirmed cases, except for two infants with HPA, identifying pathogenic variants in 32 different genes. The conditions with the highest incidence were HPA (1/6661) and MCAD deficiencies (1/13 787).

[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.] / Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid.

OBJECTIVE: Tandem mass spectrometry (MS/MS) is being used for newborn screening since this laboratory testing technology increases the number of metabolic disorders that can be detected from dried blood-spot specimens. In the Community of Madrid, it was implemented in March 2011 and it includes 13 aminoacidopathies, fatty acid oxidation disorders and organic acidemias. The aim of this study was to describe our experience and evaluate the screening positive cases in a period of 9 years (2011-2019). METHODS: During the period of the study, a total of 592.822 neonates were screened with this expanded program by MS/MS in the Community of Madrid. Amino acids, acylcarnitines, and succinylacetone were quantified in all samples that met the quality criteria. Means, medians, percentiles and standard deviation of the analytes and ratios of interest were calculated. RESULTS: 901 patients (0,15 %) with a positive screening test were referred to clinical evaluation. 230 patients were diagnosed of 30 different inborn errors of metabolism (prevalence 1:2577), 11 of which were not included as a target in the Community of Madrid newborn screening program. The global positive predictive value was 25,6 %. During this period of time, two false negative cases were detected. The most prevalent disorders were phenylketonuria/hyperphenylalaninemia and medium chain acyl-CoA dehydrogenase deficiency (1:6444 and 1:13174 respectively). 93 % of the patients were detected in the presymptomatic stage. CONCLUSIONS: During the last 9 years a large number of cases of IEM have been detected with an acceptable global positive predictive value. These results confirm the utility of inborn errors of metabolism newborn screening as a public health program.

OBJETIVO: La tecnología de espectrometría de masas en tándem (MS/MS) en los programas de cribado neonatal ha permitido la detección de gran número de errores congénitos del metabolismo (ECM). En la comunidad de Madrid se implementó en marzo de 2011 incluyendo 13 aminoacidopatías, defectos de la ß-oxidación de ácidos grasos y acidemias orgánicas. El objetivo de este estudio fue describir nuestra experiencia y analizar los casos positivos de cribado en un periodo de 9 años (2011-2019). METODOS: Durante el periodo de estudio se realizó el cribado mediante MS/MS a 592822 recién nacidos en la Comunidad de Madrid. Se cuantificaron aminoácidos, acilcarnitinas y succinilacetona en todas las muestras que cumplieron los criterios de calidad. Se calcularon medias, medianas, percentiles y desviación típica de los analitos y ratios de interés. RESULTADOS: Se derivaron a las unidades clínicas de seguimiento por sospecha de una ECM un total de 901 (0,15 %) casos. Se confirmaron 230 casos de 30 ECM diferentes (prevalencia 1:2577), 11 de los cuales no eran inicialmente objetivo de detección del programa. El valor predictivo positivo global fue de 25,6 %. Durante este periodo se detectaron dos falsos negativos. Las enfermedades con mayor prevalencia fueron fenilcetonuria/hiperfenilalaninemia y deficiencia de acil-CoA deshidrogenasa de cadena media (1:6444 y 1: 13174 respectivamente). 93 % de los casos fueron detectados en fase presintomática. CONCLUSIONES: En estos 9 años de experiencia se han detectado numerosos casos de ECM con un valor predictivo positivo global aceptable. Estos resultados confirman la utilidad del cribado neonatal de ECM como programa de salud pública.

Recomendaciones del Comité de Nutrición y Lactancia Materna de la Asociación Española de Pediatría sobre las dietas vegetarianas / Position paper on vegetarian diets in infants and children. Committee on Nutrition and Breastfeeding of the Spanish Paediatric Association

En los últimos años ha aumentado el número de personas que optan por una dieta vegetariana y que incluyen a sus hijos en esta opción de alimentación. Esto obliga a los pediatras a conocer sus características principales y la composición de los alimentos usados más comúnmente, con el fin de garantizar la salud de los niños. Existe una escasez de datos sobre el impacto a medio y a largo plazo de eliminar los productos de origen animal en la dieta de los niños, en especial en la de los más pequeños. Sin embargo, en los últimos años se han publicado herramientas (tablas de intercambios de alimentos, recomendaciones de suplementación) que facilitan el cumplimiento de una dieta vegetariana disminuyendo el riesgo de deficiencias. En este documento se revisan los grupos de alimentos que habitualmente forman parte de la dieta vegetariana, así como las recomendaciones para cada grupo de edad. Se señala también la necesidad de utilizar suplementos de vitaminaB12 en todas las edades, y en aquellos otros nutrientes (yodo, hierro, vitaminaD3, ácidos grasos poliinsaturados n-3) en riesgo de deficiencia. Una alimentación vegetariana o vegana, como cualquier otro tipo de alimentación, debe estar bien planificada. A la luz de la evidencia disponible, a pesar de que seguir una dieta vegetariana en cualquier etapa de la infancia no signifique necesariamente que sea insegura, es preferible aconsejar que durante el periodo de lactante y en el niño de corta edad se siga una dieta omnívora o, al menos, ovo o lactovegetariana

In the last few years, there are an increased number of families following a vegetarian diet, including their children. In order to guarantee child heath, paediatricians need to know the characteristics of this diet and the main foods that are used. There are few data on the medium and long-term health outcomes when removing all animal foods from the child's diet, especially at younger ages. Nevertheless, new tools have recently become available to facilitate following a vegetarian diet and decreasing the risk of deficiencies. In this document, the group of foods commonly used in vegetarian diets are reviewed, as well as recommendations for each age group. It also mentions the need to use B12 supplements at all ages, as well as other nutrients (iodine, iron, vitaminD3, poly-unsaturated fatty acid n-3), when required. A vegetarian or a vegan diet, as in any other kind of diet, needs to be carefully designed. After reviewing current evidence, even though following a vegetarian diet at any age does not necessarily mean it is unsafe, it is advisable for infant and young children to follow an omnivorous diet or, at least, an ovo-lacto-vegetarian diet

La malnutrición relacionada con la enfermedad: un aspecto a considerar / Disease-related malnutrition: an aspect to consider

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[Position paper on vegetarian diets in infants and children. Committee on Nutrition and Breastfeeding of the Spanish Paediatric Association]. / Recomendaciones del Comité de Nutrición y Lactancia Materna de la Asociación Española de Pediatría sobre las dietas vegetarianas.

In the last few years, there are an increased number of families following a vegetarian diet, including their children. In order to guarantee child heath, paediatricians need to know the characteristics of this diet and the main foods that are used. There are few data on the medium and long-term health outcomes when removing all animal foods from the child's diet, especially at younger ages. Nevertheless, new tools have recently become available to facilitate following a vegetarian diet and decreasing the risk of deficiencies. In this document, the group of foods commonly used in vegetarian diets are reviewed, as well as recommendations for each age group. It also mentions the need to use B12 supplements at all ages, as well as other nutrients (iodine, iron, vitaminD3, poly-unsaturated fatty acid n-3), when required. A vegetarian or a vegan diet, as in any other kind of diet, needs to be carefully designed. After reviewing current evidence, even though following a vegetarian diet at any age does not necessarily mean it is unsafe, it is advisable for infant and young children to follow an omnivorous diet or, at least, an ovo-lacto-vegetarian diet.

Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid / Newborn Screening Program in the Community of Madrid: evaluation of positive cases

OBJETIVO: La tecnología de espectrometría de masas en tándem (MS/MS) en los programas de cribado neonatal ha permitido la detección de gran número de errores congénitos del metabolismo (ECM). En la comunidad de Madrid se implementó en marzo de 2011 incluyendo 13 aminoacidopatías, defectos de la beta-oxidación de ácidos grasos y acidemias orgánicas. El objetivo de este estudio fue describir nuestra experiencia y analizar los casos positivos de cribado en un periodo de 9 años (2011-2019). MÉTODOS: Durante el periodo de estudio se realizó el cribado mediante MS/MS a 592822 recién nacidos en la Comunidad de Madrid. Se cuantificaron aminoácidos, acilcarnitinas y succinilacetona en todas las muestras que cumplieron los criterios de calidad. Se calcularon medias, medianas, percentiles y desviación típica de los analitos y ratios de interés. RESULTADOS: Se derivaron a las unidades clínicas de seguimiento por sospecha de una ECM un total de 901 (0,15 %) casos. Se confirmaron 230 casos de 30 ECM diferentes (prevalencia 1:2577), 11 de los cuales no eran inicialmente objetivo de detección del programa. El valor predictivo positivo global fue de 25,6 %. Durante este periodo se detectaron dos falsos negativos. Las enfermedades con mayor prevalencia fueron fenilcetonuria/hiperfenilalaninemia y deficiencia de acil-CoA deshidrogenasa de cadena media (1:6444 y 1: 13174 respectivamente). 93 % de los casos fueron detectados en fase presintomática. CONCLUSIONES: En estos 9 años de experiencia se han detectado numerosos casos de ECM con un valor predictivo positivo global aceptable. Estos resultados confirman la utilidad del cribado neonatal de ECM como programa de salud pública

OBJECTIVE: Tandem mass spectrometry (MS/MS) is being used for newborn screening since this laboratory testing technology increases the number of metabolic disorders that can be detected from dried blood-spot specimens. In the Community of Madrid, it was implemented in March 2011 and it includes 13 aminoacidopathies, fatty acid oxidation disorders and organic acidemias. The aim of this study was to describe our experience and evaluate the screening positive cases in a period of 9 years (2011-2019). METHODS: During the period of the study, a total of 592.822 neonates were screened with this expanded program by MS/MS in the Community of Madrid. Amino acids, acylcarnitines, and succinylacetone were quantified in all samples that met the quality criteria. Means, medians, percentiles and standard deviation of the analytes and ratios of interest were calculated. RESULTS: 901 patients (0,15 %) with a positive screening test were referred to clinical evaluation. 230 patients were diagnosed of 30 different inborn errors of metabolism (prevalence 1:2577), 11 of which were not included as a target in the Community of Madrid newborn screening program. The global positive predictive value was 25,6 %. During this period of time, two false negative cases were detected. The most prevalent disorders were phenylketonuria/hyperphenylalaninemia and medium chain acyl-CoA dehydrogenase deficiency (1:6444 and 1:13174 respectively). 93 % of the patients were detected in the presymptomatic stage. CONCLUSIONS: During the last 9 years a large number of cases of IEM have been detected with an acceptable global positive predictive value. These results confirm the utility of inborn errors of metabolism newborn screening as a public health program