Clinical improvements after treatment with a low‑valine and low‑fat diet in a pediatric patient with enoyl‑CoA hydratase, short chain 1 (ECHS1) deficiency

Background: Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in the accumulation of certain intermediates from the valine catabolism pathway. This disrupts the pyruvate dehydrogenase complex and the mitochondrial respiratory chain, with consequent cellular damage. Patients present with a variable age of onset and a wide spectrum of clinical features. The Leigh syndrome phenotype is the most frequently reported form of the disease. Herein, we report a case of a male with ECHS1 deficiency who was diagnosed at 8 years of age. He presented severe dystonia, hyperlordosis, moderate to severe kyphoscoliosis, great difficulty in walking, and severe dysarthria. A valine-restricted and total fat-restricted diet was considered as a therapeutic option after the genetic diagnosis. An available formula that restricted branched-chain amino acids and especially restricted valine was used. We also restricted animal protein intake and provided a low-fat diet that was particularly low in dairy fat. Results: This protein- and fat-restricted diet was initiated with adequate tolerance and adherence. After three years, the patient noticed an improvement in dystonia, especially in walking. He currently requires minimal support to walk or stand. Therefore, he has enhanced his autonomy to go to school or establish a career for himself. His quality of life and motivation for treatment have greatly increased. Conclusions: There is still a substantial lack of knowledge about this rare disorder, especially knowledge about future effective treatments. However, early diagnosis and treatment with a valine- and fat-restricted diet, particularly dairy fat-restricted diet, appeared to limit disease progression in this patient with ECHS1 deficiency.Instituto de Salud Carlos IIIEuropean Commission PI18/01319CERCA Programme/Generalitat de CatalunyaAgencia de Gestio D'Ajuts Universitaris de Recerca Agaur (AGAUR)Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER)Instituto de Salud Carlos IIIEuropean Commission PI19/01310 PI16/0104

Current Food Consumption amongst the Spanish ANIBES Study Population

Dietary habits amongst the Spanish population are currently a relevant cause for concern, as macronutrient profiles and micronutrient intakes seem to be inadequate and globally moving away from the traditional Mediterranean dietary pattern. However, recent food consumption patterns have not been fully assessed. In the present study, our aim was therefore to describe the current food consumption from the “anthropometric data, macronutrients and micronutrients intake, practice of physical activity, socioeconomic data and lifestyles in Spain” (ANIBES) study population by assessing data defined by age and gender. The ANIBES study is a cross-sectional study of a nationally representative sample of the Spanish population. A three-day dietary record was used to obtain information about food and beverage consumption. The sample comprised 2009 individuals aged 9–75 years, plus a boost sample for the youngest age groups (9–12, 13–17, and 18–24 years, n = 200 per age group). The most consumed food group across all age segments were non-alcoholic beverages followed by milk and dairy products and vegetables. Consumption of cereals and derivatives, milk and dairy products, sugars and sweets, and ready-to-eat meals by children was significantly higher than those by the adult and older adult populations (p < 0.05). Conversely, intakes of vegetables, fruits, and fish and shellfish were significantly higher in adults and older adults (p < 0.05). In order to comply with recommendations, adherence to the Mediterranean dietary patterns should be strengthened, especially amongst younger population groups. Therefore, substantial nutritional interventions may be targeted to improve the Spanish population’s dietary patterns nowadays.The study was financially supported by a grant from Coca-Cola Iberia through an agreement with the Spanish Nutrition Foundation (Fundación Española de la Nutrición (FEN)

Sodium Intake from Foods Exceeds Recommended Limits in the Spanish Population: The ANIBES Study

Excessive sodium consumption is associated with adverse health e ects. An elevated dietary intake of salt (sodium chloride) has been related to high blood pressure or hypertension, a major but modifiable risk factor for cardiovascular disease, as well as to other ill health conditions. In the present work, our aim was to describe the contribution of foods to sodium consumption within the Spanish population in a representative sample from the “anthropometric data, macronutrients and micronutrients intake, practice of physical activity, socioeconomic data and lifestyles in Spain” (ANIBES) study (9–75 years), to identify high consumer groups, as well as the major food groups that contribute to sodium intake in the Spanish diet. Intakes were assessed by 3-day food records collected on a tablet device. Sodium intakes across the ANIBES study population exceeded recommendations, as total intakes reached 2025 805 mg of sodium per day, that is approximately 5.06 g/day of salt (excluding discretionary salt, added at the table or during cooking). Sodium intakes were higher in males than in females and within the youngest groups. Main dietary sources of sodium were meat and meat products (27%), cereals and grains (26%), milk and dairy products (14%) and ready-to-eat meals (13%). Given the established health benefits of dietary salt reduction, it would be advisable to continue and even improve the current national initiatives of awareness and educational campaigns and particularly food reformulation to decrease overall salt intakes across the Spanish populationThis research was funded by a grant from Coca-Cola Iberia through an agreement with the Spanish Nutrition Foundation (Fundación Española de la Nutrición (FEN

Effects of Whole-Grain and Sugar Content in Infant Cereals on Gut Microbiota at Weaning: A Randomized Trial

The introduction of complementary foods during infancy marks an important step in the development of the infant gut microbiome. Infant cereals are popular weaning foods but consistent evidence on their effect on the intestinal microbiota, especially when differing in nutritional quality, is lacking. Fecal samples from 4–7-month-old Spanish infants who consumed infant cereals differing in whole grain and sugar content as first weaning foods were analyzed on changes in microbial composition by massively parallel sequencing of the 16S ribosomal RNA gene at baseline and after 7 weeks of intervention. Samples were obtained from a previous trial conducted in Spain demonstrating whole-grain cereal acceptability. In total, samples of 18 infants consuming 0% whole grain cereals with 24 g sugar (0-WG) and 25 infants consuming 50% whole grain cereals with 12 g sugar (50-WG) were analyzed. Microbial composition changed significantly over time (p = 0.001), per intervention group (p = 0.029) and per infant (p = 0.001). Abundance of genus Veillonella increased in both groups while Enterococcus decreased. Within the 0-WG group, phylum Actinobacteria decreased along with genus Bifidobacterium. In the 50-WG, we observed an increase in Lachnoclostridium and Bacteroides. In addition, 50-WG decreased Proteobacteria and Escherichia to levels lower than 0-WG. Although weaning itself appeared to be responsible for most changes, the increased presence of anaerobic fermenters together with inhibition of pathogenic Escherichia may indicate a supporting effect of infant cereals with 50% whole grains and a reduced sugar content over infant cereals manufactured with refined hydrolyzed flours on the infant microbiota. In fact, using a novel methodology for the identification of microbial signatures, we found two groups of microbial taxa predictive of infants consuming enriched whole-grain infant cereals with a high predictive value of about 93%.European funding from ICEX and FEDER—Program R + D Invest 539 in Spain 2015European Regional Development Fund: 20150347

Estudio médico forense de la responsabilidad profesional médica

Dado el importante problema médico, jurídico, y por ende, médico-legal, de la Responsabilidad Profesional por Mala Praxis Médica, se entiende necesario abordar unas cuestiones fundamentales relativas al mismo: evaluación estadística del problema, causas de incremento de las denuncias y principales causas de mala praxis médica, estudio teórico de la lex artis, lex artis ad hoc, deber objetivo de cuidado y culpa médica, y fundamentalmente, la pericia médico forense, clave en la solución de este problema. &nbsp; &nbsp; PALABRAS CLAVE: Responsabilidad médica. Mala praxis médica; lex artis. Medicina legal. Culpa médica. Errores medicos. &nbsp; Abstract &nbsp; Given the significant medical problem, legal, and therefore medical-legal, of Professional Responsibility for Medical Malpractice, it is understood necessary to address a number of key issues relating to the same: statistical evaluation of the problem, causes of increase in complaints and major causes of medical malpractice, theoretical study of art, art ad hoc, objective duty of care, and medical fault, and fundamentally, the forensic medical expertise, key in solving this problem. &nbsp; KEY WORDS: Medical liability, Criminal liability, lex artis

Funciones de los nucleótidos de la dieta

Los nucleótidos desempeñan funciones esenciales en todos los seres vivos. La dieta contiene cantidades relativamente importantes de nucleótidos que pueden ser utilizados por los tejidos, especialmente por aquellos que presentan una tasa elevada de crecimiento. En el periodo neonatal la leche humana representa la fuente exclusiva de nucleótidos preformados para el recién nacido. En esta etapa los nucleótidos contribuyen a aumentar la biodisponibilidad del hierro y estimulan el crecimiento de las bifidobacterias intestinales, limitando a su vez el de las enterobacterias. Además, los nucleótidos de la dieta modulan la biosíntesis de ácidos grasos poliinsaturados y aumentan los niveles de lipoproteínas de alta densidad, así como las concentraciones de apoproteínas de origen intestinal A-I y A-IV en el período postnatal temprano. Por otra parte, los nucleótidos de la dieta modulan el sistema inmune, tanto en animales de experimentación como en el ser humano, estimulando la respuesta linfoproliferativa de las células T frente a mitógenos y dando lugar a una mayor producción de inmunoglobulinas tanto in vitro como in vivo. Finalmente, los nucleótidos de la dieta son utilizados por los tejidos de crecimiento rápido en procesos de reparación tras sufrir agresiones de origen diverso. Así, los nucleótidos mejoran la reparación del intestino delgado tras un proceso de diarrea crónica y malnutrición y limitan la incidencia y duración de la diarrea aguda en los lactantes. Además contribuyen a la recuperación de las lesiones hepáticas ocasionadas por la ingesta de algunas drogas como la tioacetamida en animales de experimentación.Nucleotides play key roles in all living organisms. The diet contains relatively high levels of free nucleotides and nucleic acids which can be used as building blocks for cell nucleotides mainly in tissues with a rapid tumover. Human milk represents the exclusive source of nucleotides in early life. In this period nucleotides enhance the bioavailability of iron and stimulate the growth of intestinal bifidobacteria limiting that of enterobacteria. Moreover, dietary nucleotides increase high density lipoprotéins levels and Apo A-I and Apo A-IV in newbom infants. Furthermore, dietary nucleotides modulate the immune system both in experimental animals and humans stiIpulating the Iymphoproliferative response of T cells against mitogens and enhancing the in' vivo and in vitro production of immunoglobulins. In addition, dietary nucleotides are preferently utilized in tissue repair after injury particularly in those tissues exhibiting a high tumover. Thus, nucleotides improve the small intestinal repair after a process of chronic diarrhoea and malnutrition and reduce the prevalen ce and duration of chronic diarrhoea in infants. Moreover, they increase the recovery of hepatic lessions induced by the intake of thioacetamide in experimental animals

El músculo, paradigma metabólico en la recuperación nutricional

El músculo esquelético es un tejido que representa la mayor parte de la masa corporal total y de las proteínas corporales y que desempeña diversas funciones vitales. La masa muscular es el resultado del equilibrio entre síntesis y degradación y ambos procesos son sensibles a factores como el estado nutricional, el equilibrio hormonal, la actividad física y el ejercicio, así como a la enfermedad. En diversos estados de desnutrición asociados a varias patologías infecciosas y traumáticas, así como a enfermedades crónicas, la masa muscular es afectada más o menos severamente. Asimismo, la sarcopenia es una alteración progresiva y generalizada del músculo esquelético que aparece con la edad y que se asocia con una mayor probabilidad de eventos adversos, como caídas, fracturas, incapacidad física y mortalidad. Por tanto, la recuperación de la masa y de la funcionalidad muscular es clave para mejorar los estados de desnutrición asociados a numerosas patologías. En el presente artículo se resumen las vías metabólicas y los nutrientes más utilizados por el músculo para la obtención de energía y las vías de señalización celular implicadas en la síntesis y degradación del músculo. Asimismo, se comenta la importancia de algunas mioquinas en la interacción con otros tejidos para el mantenimiento de la homeostasis corporal. Existe un gran número de reguladores positivos de la síntesis de proteína muscular. Especialmente, los aminoácidos de cadena ramificada durante la restricción energética contribuyen a la síntesis de proteína muscular, así como a la atenuación de la excreción de nitrógeno corporal y de la proteólisis muscular.Skeletal muscle is a tissue that represents the majority of total body mass and proteins in healthy humans. Muscle mass is the results of balance between synthesis and proteolysis, both processes being sensitive to a variety of factors including nutritional status, hormonal balance, physical activity and exercise, and disease. Indeed, muscle mass loss is associated with several infectious, traumatic and chronic pathologies. Likewise, sarcopenia is a progressive and generalized skeletal muscle disorder appearing with ageing associated with increased likelihood of adverse outcomes including falls, fractures, physical disability, and mortality. Hence, recovery of muscle mass and functionality is a key factor to improve undernutrition associated with many pathological conditions. The aim of the present article is to summarize the most important substrates, metabolic and cell signaling pathways involved in the synthesis, degradation and turnover in skeletal muscle. Moreover, the importance of some myokines in the interaction between skeletal muscle and other tissues, and in the maintenance of homeostasis is highlighted. A great number of positive regulators for muscle protein synthesis has been reported. Especially, during energy restriction, branched chain amino acids, e.g. leucine, contribute majorly to muscle protein synthesis as well as to attenuate nitrogen body excretion and muscle proteolysis

Nutritional Importance of Selected Fresh Fishes, Shrimps and Mollusks to Meet Compliance with Nutritional Guidelines of n-3 LC-PUFA Intake in Spain

Fishery products are the main source of dietary n-3 long-chain polyunsaturated fatty acids (n-3 LC-PUFA). Following the European Commission’s request to address the risks and benefits of seafood consumption, and taking into account the great variability of nutrient and contaminant levels in fishery products, the present work aims to estimate the n-3 LC-PUFA provided per serving of selected fishes, shrimps and mollusks that are commonly consumed in Spain. This would enable the establishment of a risk–benefit analysis of fish consumption and provide recommendations for fish intake to comply with nutritional guidelines of n-3 LC-PUFA intake. We confirmed high variation in the pattern and contents of fatty acids for different species. n-6 PUFA were minor fatty acids, whereas palmitic (C16:0), oleic (C18:1 n-9), and mainly eicosapentaenoic (C20:5 n-3) and docosahexaenoic (C22:6 n-3) acids were the major fatty acids in the sample. Therefore, consumption of 2–3 servings per week of a variety of fishery products may contribute to compliance with the recommended daily n-3 LC-PUFA intake while maintaining an adequate balance to avoid contaminant-derived potential risks (metals and others). Taking the fatty acid content of fishery products described in this study into consideration, it is advisable to include one serving of fatty fish per week in order to meet recommended n-3 LC-PUFA levels.Instituto de Salud Carlos III PI10/0052

Plasma homocysteine in adolescents depends on the interaction between methylenetetrahydrofolate reductase genotype, lipids and folate: a seroepidemiological study

<p>Abstract</p> <p>Background</p> <p>Many publications link high homocysteine levels to cardiovascular disease. In Spain there is little information on the prevalence of hyperhomocysteinaemia and associated vitamin factors among the general population, and less still among children. Cardiovascular risk factors in the childhood population may be related to the appearance of cardiovascular disease at adult age. The aim of this study is to establish a definition of hyperhomocysteinaemia in adolescents and to analyze the influence of vitamin and metabolic factors in homocysteine levels in this population group.</p> <p>Methods</p> <p>Descriptive, cross-sectional epidemiological study to estimate serum homocysteine, vitamin B12 and folate levels, as well as plasma total, HDL- and LDL- cholesterol in a schoolgoing population aged 13 to 17 years in Madrid, Spain.</p> <p>Spearman correlation analysis was performed to ascertain quantitative comparison, Pearson's χ2 test (frequency < 5, Fisher) was used for comparison of prevalences, Mann-Whitney U and Kruskal-Wallis test were used for comparison of means and Bonferroni correction was used for post-hoc tests. A multivariate logistic regression model was performed in the multivariate analysis.</p> <p>Results</p> <p>Based on the classic values for definition of hyperhomocysteinaemia in adults, prevalence of hyperhomocysteinaemia in the study population was: 1.26% for 15 μmol/L; and 2.52% for 12 μmol/L.</p> <p>Deficits in HDL cholesterol and serum folate levels yielded adjusted Odds Ratios (OR) for hyperhomocysteinemia of 2.786, 95% CI (1.089-7.126), and 5.140, 95% CI (2.347-11.256) respectively. Mutation of the methylenetetrahydrofolate reductase (MTHFR) C677T genotype also raises the risk of hyperhomocysteinaemia (CC→CT: OR = 2.362; 95% CI (1.107-5.042) CC→TT: OR = 6.124, 95% CI (2.301-16.303))</p> <p>Conclusion</p> <p>A good definition of hyperhomocysteinaemia in adolescents is the 90^thpercentile, equivalent to 8.23 μmol/L. Risk factors for hyperhomocysteinaemia are cHDL and folate deficiency, and the MTHFR C677T mutant genotype. No significant effect could be assessed for vitamin B₁₂. Coexistence of all three factors increases the risk of suffering from hyperhomocysteinaemia 87-fold.</p