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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.
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Desnutrição , Nutricionistas , Humanos , Estado Nutricional , Hospitais Universitários , Desnutrição/terapia , Apoio NutricionalRESUMO
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.
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Doenças Cardiovasculares , Laboratórios Clínicos , Humanos , Consenso , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/prevenção & controle , LipídeosRESUMO
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.
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Doenças Cardiovasculares , Laboratórios Clínicos , Humanos , Consenso , Doenças Cardiovasculares/prevenção & controle , Doenças Cardiovasculares/etiologia , Metabolismo dos Lipídeos , LipídeosRESUMO
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.
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Cardiopatias Congênitas , Desnutrição , Lactente , Criança , Humanos , Consenso , Estado Nutricional , Apoio Nutricional , Desnutrição/diagnóstico , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/diagnósticoRESUMO
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.
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Doenças Cardiovasculares , Laboratórios Clínicos , Lipídeos , Lipídeos/análise , Transtornos do Metabolismo dos Lipídeos/complicações , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/prevenção & controle , Consenso , HumanosRESUMO
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.
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Erros Inatos do Metabolismo dos Aminoácidos , Acidemia Propiônica , Deficiência de Vitamina B 12 , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Aminoácidos , Criança , Humanos , Recém-Nascido , Triagem Neonatal/métodos , Acidemia Propiônica/diagnóstico , Espectrometria de Massas em Tandem , Vitamina B 12 , Deficiência de Vitamina B 12/diagnósticoRESUMO
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).
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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.
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Microbioma Gastrointestinal , Síndrome do Intestino Irritável , Humanos , Criança , Fibras na Dieta , Microbioma Gastrointestinal/fisiologia , Constipação Intestinal , DietaRESUMO
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.
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Acil-CoA Desidrogenase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo Lipídico/diagnóstico , Triagem Neonatal/métodos , Espectrometria de Massas em Tandem/métodos , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Carnitina/análogos & derivados , Carnitina/sangue , Cidades , Feminino , Humanos , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/epidemiologia , Masculino , Valor Preditivo dos Testes , Prevalência , EspanhaRESUMO
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.
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Aleitamento Materno , Saúde da Criança , Deficiências Nutricionais/prevenção & controle , Dieta Vegetariana/métodos , Dieta Vegetariana/normas , Política Nutricional , Pediatria/normas , Adolescente , Criança , Pré-Escolar , Dieta Vegetariana/efeitos adversos , Suplementos Nutricionais , Humanos , Lactente , Necessidades Nutricionais , EspanhaRESUMO
The present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the Spanish newborn mass spectrometry screening program. One hundred and forty-one consecutive DNA samples were analyzed by next-generation sequencing using a customized exome sequencing panel. When required, the Illumina extended clinical exome panel was used, as was Sanger sequencing or transcriptional profiling. Biochemical tests were used to confirm the results of the genetic analysis. Using the customized panel, the metabolic disease suspected in 83 newborns (59%) was confirmed. In three further cases, two monoallelic variants were detected for two genes involved in the same biochemical pathway. In the remainder, either a single variant or no variant was identified. Given the persistent absence of biochemical alterations, carrier status was assigned in 39 cases. False positives were recorded for 11. In five cases in which the biochemical pattern was persistently altered, further genetic analysis allowed the detection of two variants affecting the function of BCAT2, ACSF3, and DNAJC12, as well as a second, deep intronic variant in ETFDH or PTS. The present results suggest that genetic analysis using extended next-generation sequencing panels can be used as a confirmatory test for suspected inborn errors of metabolism detected in newborn screening programs. Biochemical tests can be very helpful when a diagnosis is unclear. In summary, simultaneous genomic and metabolomic analyses can increase the number of inborn errors of metabolism that can be confirmed following suggestive newborn screening results.
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Testes Genéticos , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo/genética , Triagem Neonatal , Exoma/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/epidemiologia , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/epidemiologia , Mutação/genética , Espanha/epidemiologia , Sequenciamento do ExomaRESUMO
INTRODUCTION: the recent economic and financial crisis has affected most Western countries, especially families of low socioeconomic classes. We speculate that worsening of socioeconomic condition associated with the crisis would increase obesity, mainly in disadvantaged families. MATERIAL AND METHODS: cross-sectional study of the 290,111 children aged three to 12 years old attending public school during the term 2014-2015 in Madrid City, by means of a stratified weighted sample randomly chosen, taking into account age (grade), city district and schools. The questionnaire included weight and height (auto-reported), dietary report (weekly frequency of intake), as well as socioeconomic variables. RESULTS: 1,208 questionnaires were evaluated from 64 classes. Half of participants were boys; 42% were younger than five years old, 35% werebetween six and eight years old, and 23% older than eight. Undernutrition was present in 5.0%, and excess of weight (overweight + obesity) in 36.7%. Undernutrition was higher in children under the age of six (9.1%). No relationship was found between undernutrition and the characteristics of the families but was slightly higher in families where both parents were unemployed. Excess of weight was higher in children of non-Spaniard parents (44% vs 32%, p < 0.0001), as well as in those families with economic problems (41% vs 31%, p = 0.0005). Only for meat, grains and dairy, the weekly intake was close to the recommendations. CONCLUSIONS: children from lower income households were at a higher risk of being overweight compared with their peers. Participation in a school-based food aid program may reduce food insecurity for children and their families.
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Recessão Econômica/estatística & dados numéricos , Comportamento Alimentar/psicologia , Estado Nutricional , Criança , Fenômenos Fisiológicos da Nutrição Infantil , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Obesidade/epidemiologia , Sobrepeso/epidemiologia , Pobreza , Espanha/epidemiologia , Inquéritos e Questionários , População UrbanaRESUMO
OBJECTIVES: The aim of the present study was to assess reproducibility and inter-rater reliability of 2 nutritional screening tools (NST): Screening Tool for Risk on Nutritional Status and Growth (STRONGkids) and Screening Tool for the Assessment of Malnutrition in Paediatrics (STAMP). METHODS: Prospective observational multicentre study. Patients ages 1 month or older admitted to paediatric or surgical wards were tested within 24 hours of admission by 2 independent observers: experts specialized in paediatric nutrition (physicians or dieticians) and clinical staff nonexpert in nutrition. Diagnosis on admission, underlying diseases, and length of stay were registered. STATISTICAL ANALYSIS: Kappa index (κ) to evaluate agreement between observers. RESULTS: A total of 223 patients were included (53.4% boys), with mean age of 5.59 (95% confidence interval 4.94-6.22) years. Experts classified 9.9% of patients at high risk with STRONGkids and 19.7% using STAMP, whereas nonexpert staff assigned 6.7% of patients to the high-risk category with STRONGkids and 21.9% with STAMP. Agreement between expert and nonexpert staff was good: 94.78% for STRONGkids (κ 0.72 [Pâ<â0.001]); 92.55% for STAMP (κ 0.74 [Pâ<â0.001]). The rate of malnutrition was significantly higher among high-risk patients with both NST, independent of examiner experience. After adjusting for age, both STRONGkids and STAMP high-risk scores predicted longer length of stay, whether assessed by experts or nonexperts, although differences were higher with STRONGkids. CONCLUSIONS: Agreement between experts and nonexpert staff in nutrition was good, producing a similar high-risk patient profile. Our results demonstrate that these NSTs are appropriate for nutritional screening in settings in which users have no previous experience in the field.