Biobancos en otorrinolaringología / Biobanks in otolaryngology

Resumen Los biobancos son una innovadora herramienta biotecnológica y un recurso fundamental para el continuo avance en la investigación científica biomédica, y para el advenimiento de la medicina de precisión. Se han desarrollado de forma exponencial durante los últimos 20 años en el mundo, como también a nivel de nuestro país, con la creación de 10 biobancos desde el año 2004. En ellos se almacenan y organizan distintos tipos de muestras biológicas, asociadas a datos epidemiológicos y genéticos de donantes voluntarios. Todos los especímenes almacenados deben ser preservados con estándares de calidad garantizados, a modo de asegurar trazabilidad, integridad y calidad de las muestras. A pesar de que la mantención de un biobanco puede significar altos costos, a fin de cuentas, abaratan costos de los estudios clínicos, dado que es precisamente el biobanco quien se encarga de la obtención de datos y muestras clínicas confiables, permitiendo realizar múltiples estudios a partir de las mismas muestras. A través de este proceso, los biobancos permiten mantener una fuente confiable de recur-sos para la investigación en diversas áreas de la medicina, dentro de ellas la otorrinolaringología. En otorrinolaringología, los biobancos han significado un gran avance, facilitando la investigación en relación con hipoacusia, presbiacusia y tinnitus, así como en el área oncológica. En un futuro, se espera que la comunidad científica haga uso de este recurso, pudiendo expandir su utilidad no solo en el área médica, sino también en otras profesiones de la salud, maximizando así su gigantesco potencial.

Abstract Biobanks are novel biotechnological tools and a fundamental resource for the constant development of biomedical research, as much as for the growing practice of precision medicine. They have proliferated worldwide over the past 20 years and Chile has not been left behind with the creation of 10 bio-banks since 2004. Biobanks store and organize different types of biological samples associated with epidemiological and genetic data from volunteer donors. These samples are stored and preserved under guaranteed quality standards to ensure their traceability, integrity, and quality. Even though the price of maintaining a biobank may seem high, after all, they reduce the costs of research, since biobanks are responsible of the acquisition and storage of data and samples, allowing the performance of multiple studies from the same collection of specimens. In this direction, biobanks grant a constant source of well-founded scientific material for investigation in a wide range of medical fields, such as otolaryngology among them. In otolaryngology, the biobanks have meant a great improvement, facilitating investigations related to deafness, presbycusis, tinnitus and oncology. In the future we hope the scientific community will expand the use this innovative tool over a broader medical field and towards other health-related professions, making the most of its enormous potential.

Robot-assisted minimally invasive esophagectomy (RAMIE): tips and tricks from the bedside assistant view-expert experiences.

The role of bedside assistants in robot-assisted minimally invasive esophagectomy is important. It includes knowledge of the procedure, knowledge of the da Vinci Surgical System, skills in laparoscopy, and good communicative skills. An experienced bedside assistant will likely improve efficiency and safety of robot-assisted minimally invasive esophagectomy.

The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease.

OBJECTIVE: Intestinal dysbiosis has been associated with coeliac disease (CD), but whether the alterations are cause or consequence of the disease is unknown. This study investigated whether the human leukocyte antigen (HLA)-DQ2 genotype is an independent factor influencing the early gut microbiota composition of healthy infants at family risk of CD. DESIGN: As part of a larger prospective study, a subset (n=22) of exclusively breastfed and vaginally delivered infants with either high genetic risk (HLA-DQ2 carriers) or low genetic risk (non-HLA-DQ2/8 carriers) of developing CD were selected from a cohort of healthy infants with at least one first-degree relative with CD. Infant faecal microbiota was analysed by 16S rRNA gene pyrosequencing and real time quantitative PCR. RESULTS: Infants with a high genetic risk had significantly higher proportions of Firmicutes and Proteobacteria and lower proportions of Actinobacteria compared with low-risk infants. At genus level, high-risk infants had significantly less Bifidobacterium and unclassified Bifidobacteriaceae proportions and more Corynebacterium, Gemella, Clostridium sensu stricto, unclassified Clostridiaceae, unclassified Enterobacteriaceae and Raoultella proportions. Quantitative real time PCR also revealed lower numbers of Bifidobacterium species in infants with high genetic risk than in those with low genetic risk. In high-risk infants negative correlations were identified between Bifidobacterium species and several genera of Proteobacteria (Escherichia/Shigella) and Firmicutes (Clostridium). CONCLUSIONS: The genotype of infants at family risk of developing CD, carrying the HLA-DQ2 haplotypes, influences the early gut microbiota composition. This finding suggests that a specific disease-biased host genotype may also select for the first gut colonisers and could contribute to determining disease risk.

[Importance of water in the hydration of the Spanish population: FESNAD 2010 document]. / Importancia del agua en la hidratación de la población española: documento FESNAD 2010.

For any healthy individual, thirst is an appropriate sign to drink water, except for babies, sportsmen, and most of ill and elderly people. In these instances, it is convenient to schedule appropriate times to drink water since great demands and the physiological mechanisms that determine thirst in these situations may condition water unbalances with important consequences for health and the physical and intellectual performance. The human body has a number of mechanisms that allow keeping constant the water content by adjusting intakes and wastes. Water balance is determined by intake (consumed water, beverages, and water contained in foods) and wastes (urine, stools, the skin, and expired air from the lungs). Failure of these mechanisms and subsequent impairments in water balance may produce severe disarrangements that may threaten somebody's life. In the present document, we analyze the evidences regarding the factors conditioning water needs in the different life stages and physiological situations, as well as the consequences of water unbalance under different situations. A proper hydration may be achieved by feeding and the use of water and other liquids. Although water is the beverage by excellence and represents the ideal way of restoring the losses and get hydrated, we should be aware that, from the very beginning, we have sought other liquid sources with hydration properties. In the last decades we have increased the consumption of different beverages, with a proliferation of sugar-containing beverages. Since excessive sugar consumption has been related to obesity and other chronic conditions, it is evident that the use of these caloric beverages should be rationalized, especially in children. In this document all the considerations regarding hydration are presented and different recommendations are exposed.

The R30Q DLG5 variant is not associated with celiac disease or inflammatory bowel disease in the Spanish population.

Alterations in intestinal epithelial permeability could underlie inflammatory bowel disease (IBD) and celiac disease (CeD) etiology, as supported by previous association studies. One related gene, DLG5 [discs, large homologue 5 (Drosophila)], has been associated with IBD in several populations and with CeD in the Dutch population. We tried to confirm the involvement of DLG5 in CeD performing a case-control study (725 CeD patients and 803 controls) by analysing the R30Q variant (rs1248696). Genetic frequencies did not significantly differ between groups (P > 0.80) and the meta-analysis with the Dutch data did not show any association. Additionally, we evaluated the effect of R30Q in IBD risk (858 patients), as discordant results were previously obtained. No association was detected. Our study does not support the effect of the R30Q DLG5 variant in CeD or IBD predisposition in the Spanish population.

The effect of a partially hydrolysed formula based on rice protein in the treatment of infants with cow's milk protein allergy.

Infants diagnosed with allergy to cow's milk protein (CMP) are fed extensively hydrolysed cow's milk formulas, modified soy formulas or even amino acid-based formulas. Hydrolysed rice protein infant formulas have become available and have been shown to be well tolerated by these infants. A prospective open, randomized clinical study to compare the clinical tolerance of a new hydrolysed rice protein formula (HRPF) with an extensively hydrolysed CMP formula (EHF) in the feeding of infants with IgE-mediated cow's milk allergy. Ninety-two infants (46 boys and 46 girls, mean age 4.3 months, range 1.1-10.1 months) diagnosed with IgE-mediated cow's milk allergy were enrolled in the study. Clinical tolerance to the formula products was tested. Clinical evaluation included skin prick tests with whole cow's milk, soya and rice as well as antigens of CMP (beta-lactoglobulin, alpha-lactalbumin, casein and bovine seroalbumin), HRPF and EHF and specific IgE determinations to CMP using CAP technology. Patients were randomized to receive either an EHF based on CMP or a new HRPF. Follow-up was at 3, 6, 12, 18 and 24 months. Growth parameters were measured at each visit. One infant showed immediate allergic reaction to EHF, but no reaction was shown by any infant in the HRPF group. The number of infants who did not become tolerant to CMP during the study was not statistically different between the two groups. Measurement of IgE levels of infants allergic to CMP during the study showed no significant differences between the two formula groups. Growth parameters were in the normal range and similar between groups. In this study, the HRPF was well tolerated by infants with moderate to severe symptoms of IgE-mediated CMP allergy. Children receiving this formula showed similar growth and development of clinical tolerance to those receiving an EHF. In accordance with current guidelines, this HRPF was tolerated by more than 90% of children with CMP allergy and therefore could provide an adequate and safe alternative to CMP-hydrolysed formulas for these infants.

Interplay between human leukocyte antigen genes and the microbial colonization process of the newborn intestine.

Coeliac disease (CD) development involves genetic (HLA-DQ2/DQ8) and environmental factors. Herein, the influence of the HLA-DQ genotype on the gut colonization process of breast-fed children was determined. A cohort of 20 newborns, with at least one first-degree relative with CD, were classified according to their HLA-DQ genotype into high, intermediate and low genetic risk groups, showing 24-28%, 7-8% and less than 1% probability to develop CD, respectively. Faecal microbiota was analysed at 7 days, 1 and 4 months of children's age by fluorescence in situ hybridization. When considering all data, Gram-negative bacteria and Bacteroides-Prevotella group proportions were higher (P<0.05) in the high than in the intermediate and low genetic risk groups. E. coli, Streptococcus-Lactococcus, E. rectale-C. coccoides, sulphate-reducing bacteria, C. lituseburense and C. histolyticum group proportions were also significantly higher (P<0.05) in the high than in the low genetic risk group. Correlations between these bacterial groups and the genetic risk were also detected (P<0.05). In addition, the number and type of CD relative seemed to influence (P<0.050) these bacterial proportions in children at CD risk. At 4 months of age, similar relationships were established between the high genetic risk to develop CD and the proportions of Streptococcus-Lactococcus (P<0.05), E. rectale-C. coccoides (P<0.05), C. lituseburense (P<0.05), C. histolyticum (P<0.05), Bacteroides-Prevotella (P<0.10) groups and total Gram-negative bacteria (P<0.05). The results suggest a relationship between HLA-DQ genes and the gut microbial colonization process that could lead to a change in the way this disorder is investigated.

[Comparison of dietary reference intakes (DRI) between different countries of the European Union, The United States and the World Health Organization]. / Comparativa de las Ingestas Dietéticas de Referencia (IDR) de los diferentes países de la Unión Europea, de Estados Unidos (EEUU) y de la Organización Mundial de la Salud (OMS).

BACKGROUND: In Spain, there are some organizations and scientific societies that have edited reference values of recommended nutrient intake, but whose data does not always agree in terms of format and content. AIMS: To review the definitions, data and methodology that other countries or groups of countries have followed to obtain and document their own reference values in order to offer basic information to facilitate the establishment of the best reference values for the Spanish population. FIELD: Review of the available information in different countries (or groups of countries) from the European Union, the United States and World Health Organization. The analysed data concerned to healthy populations. CONCLUSIONS: Reference intakes differ among the examined countries according to population groups, included nutrients, methodology and frequency of published reviews. However, most of the countries define major concepts in the same way, although with different names in each country. On the other hand, most of the studied cases represent only a scientific organization in charge of the publication and update of the values of dietary reference intakes, but not in Spain. In that context, it looks convenient to reach a consensus among all Spanish organizations and scientific societies that are involved in this task, in order to establish an acceptable reference values.

Comparativa de las Ingestas Dietéticas de Referencia (IDR) de los diferentes países de la Unión Europea, de Estados Unidos (EEUU) y de la Organización Mundial de la Salud (OMS) / Comparison of dietary reference intakes (DRI) between different countries of the European Union, The United States and the world health organization

Antecedentes: En España, existen varios organismos y sociedades científicas que han editado sus propios de valores de referencia sobre la ingesta recomendada de nutrientes, que no siempre coinciden en los contenidos y formas presentadas. Objetivo: Revisar los conceptos, datos y la metodología que han seguido otros países o grupos de países para obtener y documentar sus propios Valores de Referencia, con objeto de ofrecer una información básica que facilite el establecimiento de los valores de referencia que mejor puedan adaptarse a la población española, en base a la mejor evidencia científica disponible en la actualidad. Ámbito: Revisión de la información disponible en los distintos países (o grupos de países) de la Unión Europea, Estados Unidos y la Organización Mundial de la Salud. Los datos estudiados corresponden a poblaciones sanas. Conclusiones: Las ingestas de referencia difieren notablemente entre los distintos países estudiados en cuanto a grupos de población, tipo de nutrientes incluidos, metodología y periodicidad de las revisiones publicadas. Sin embargo, la mayoría definen de manera semejante los conceptos más importantes, aunque tengan distintas denominaciones en cada país. Por otro lado, en la mayoría de los casos estudiados existe un único organismo científico encargado de la publicación y actualización de los valores de ingestas dietéticas de referencia, no siendo así en España. En este contexto, parece conveniente alcanzar un acuerdo entre todos los organismos y sociedades científicas españolas implicadas en esta tarea, con objeto de establecer unos valores de referencia únicos para todo el país, con el consenso de todos (AU)

Background: In Spain, there are some organizations and scientific societies that have edited reference values of recommended nutrient intake, but whose data does not always agree in terms of format and content. Aims: To review the definitions, data and methodology that other countries or groups of countries have followed to obtain and document their own reference values in order to offer basic information to facilitate the establishment of the best reference values for the Spanish population. Field: Review of the available information in different countries (or groups of countries) from the European Union, the United States and World Health Organization. The analysed data concerned to healthy populations. Conclusions: Reference intakes differ among the examined countries according to population groups, included nutrients, methodology and frequency of published reviews. However, most of the countries define major concepts in the same way, although with different names in each country. On the other hand, most of the studied cases represent only a scientific organization in charge of the publication and update of the values of dietary reference intakes, but not in Spain. In that context, it looks convenient to reach a consensus among all Spanish organizations and scientific societies that are involved in this task, in order to establish an acceptable reference values (AU)

Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample.

Celiac disease (CD) is an inflammatory condition affecting small bowel and triggered by gluten (or related proteins) ingestion in genetic susceptible individuals. Polymorphisms in three genes, SERPINE2, PPP6C and PBX3, have recently been associated with CD in the Spanish population. However, this association could not be replicated in the UK population using imputed data. As this second study analyzed a different population, we aimed at reevaluating the role of those polymorphisms using an independent Spanish sample. We genotyped three single nucleotide polymorphisms: rs6747096 in SERPINE2, rs458046 in PPP6C and rs7040561 in PBX3, in 417 CD patients, 527 ethnically matched healthy controls and parents of 304 CD patients. A case-control study using the chi(2)-test and a familial study using the transmission disequilibrium test were performed. No association was detected in those analyses. Therefore, our results seem to discard the role of the previously described polymorphisms in SERPINE2, PPP6C and PBX3 in CD susceptibility.

Association of IL18RAP and CCR3 with coeliac disease in the Spanish population.

BACKGROUND AND AIMS: Genome-wide association studies in coeliac disease (CD) have resulted in the finding of eight new genetic regions associated with disease susceptibility. However, a replication study performed in the Italian population could not confirm two of those new regions: 2q12 (IL18RAP) and 3p21 (CCR3). The aim of this study was to investigate the role of those regions in CD risk in a different Mediterranean population, the Spanish population. METHODS: A case-control study with 722 patients with CD and 794 ethnically matched healthy controls was performed. Two single-nucleotide polymorphisms, rs917997 (2q12) and rs6441961 (3p21), were genotyped and their genetic frequencies were compared between both groups using the chi(2) test. RESULTS: An association was found with rs6441961 (p = 0.0004, OR = 1.32, 95% CI 1.13 to 1.54). A non-significant result (but concordant with the initial study) was obtained for rs917997. CONCLUSION: The association of the 3p21 genetic region with CD susceptibility in the Spanish population was confirmed. In 2q12, the initially described OR is most probably overestimated and therefore the real situation may be the existence of a genuine but weak risk factor, which generates statistical power limitations.

Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility.

Celiac disease (CD) is a multifactorial disease characterized by intestinal inflammation after gluten exposure in genetically susceptible individuals. A strong influence of certain human leukocyte antigen (HLA) alleles (those coding the HLA-DQ2 and DQ8 heterodimers) is well established, but they cannot explain the overall genetic risk. CIITA could be a good candidate gene for CD because it is mainly transcriptionally regulated, and it encodes the master regulator of major histocompatibilty complex class II gene transcription. CIITA is located in 16p13, a region also containing KIAA0350 (CLEC16A), associated with two autoimmune diseases in genome-wide association studies. We aimed at studying the involvement of polymorphisms in CIITA and KIAA0350 in CD susceptibility, with special attention to evaluate the possible presence of more than one risk factor in the region. We performed a case-control study with 607 CD patients and up to 794 healthy controls, all Spaniards. All samples were genotyped for five single nucleotide polymorphisms: rs3087456 (-168A/G) and rs4774 in CIITA and rs7203459, rs6498169 and rs2903692 in KIAA0350. No significant results were obtained when comparing genotypic, allelic or haplotypic frequencies between patients and controls. Our results seem to discard the influence in CD susceptibility of CIITA and KIAA0350 markers previously associated with other autoimmune diseases.

IL23R: a susceptibility locus for celiac disease and multiple sclerosis?

Recent studies have shown association of the IL23R gene with inflammatory bowel disease, psoriasis and ankylosing spondylitis. We aimed at studying the involvement of IL23R in celiac disease (CD) and multiple sclerosis (MS). We performed a case-control study including 598 patients with CD, 414 with MS and 546 healthy controls, all of them white Spaniards. All samples were genotyped for two single nucleotide polymorphisms: rs7517847 and rs11209026 (Arg381Gln). Statistical analyses were performed using chi(2-)tests or the Fisher's exact test. The minor allele (Gln) of the coding variant Arg381Gln was significantly increased in CD and MS patients when compared to controls (8% in CD vs 6% in controls, P=0.02; 9% in MS, P=0.006). In MS, a stronger effect was observed in patients showing primary-progressive disease (16%, P=0.004). Moreover, heterozygotes for rs7517847 were significantly increased in this group of MS patients (81% in MS vs 48% in controls, P=0.0002). In conclusion, contrary to what has been described previously, the less frequent allele of the functional polymorphism Arg381Gln (rs11209026) seems to be increasing susceptibility to CD and MS, although in this last group of patients a stronger effect is observed in patients affected of a primary-progressive form.

[Multidisciplinary approach in the management of intestinal failure]. / Tratamiento multidisciplinario del fallo intestinal.

OBJECTIVE: [corrected] Our aim was to analyze our results in the management of intestinal failure with a multidisciplinary approach including optimized parenteral nutrition, reconstructive surgery and intestinal transplantation (ITx). MATERIAL AND METHODS: We included all patients evaluated by our team with the diagnosis of IF. We assessed outcome, mortality and complications in children that achieved adaptation and those listed for ITx. RESULTS: Seventy one children (40 boys, 31 girls) were evaluated between 1997 and 2006 because of IF. Forty eight (76%) were referred from other institutions. In 56 cases (80%) IF began in the newborn period. Causes of IF were: short bowel syndrome (52) intestinal motility disorders (16) and intestinal epithelial disorders (3). Median birth weight in the group of SBS was 2.2 Kg and prematurity was an associated condition in 15% of them. Overall, fourteen patients (20%) achieved intestinal adaptation with progressive weaning from PN, the management of these children consisted of optimized parenteral and enteral nutrition and autologous intestinal reconstructive surgery. Nine (13%) are stable under home parenteral nutrition regimen. Eight children (11%), all of them listed for liver and small bowel transplantation, died in the waiting list after a mean waiting time of more than 300 days, with a median of 4 laparotomies and 4 episodes of catheter related sepsis. Four children (5.6%) died in the adaptation process or before their inclusion on the waiting list. Finally, twenty five (35,2%) children underwent 28 intestinal transplantation: 9 isolated small bowel transplantation (SBTx), 16 combined liver and small bowel (CLSB) and 3 multivisceral (MVTx). Among transplanted patients, 9 (36%) died, (3 MVTx, 1 SBTx and 8 CLSB) and four were retransplanted. CONCLUSIONS: Intestinal Transplantation is an established alternative to parenteral nutrition in the treatment of IF, although complications and mortality rates are still considerable, especially MVTx and CLSBTx. Mortality in children listed for intestinal transplantation remains also high. Intestinal adaptation can be achieved with adequate rehabilitation therapy even in some cases with apparently irreversible intestinal transplantation. Early referral before liver failure or other complications arise is crucial is crucial in order to improve the outcome of these patients.

Tratamiento multidisciplinario del fallo intestinal / Multidisciplinary approach in the management of intestinal failure

Introducción. Aunque se han producido importantes avances en el terreno del fallo intestinal (FI), su tratamiento es a menudo aplicado por grupos compartimentados, con escasa interrelación, y ello influye negativamente sobre los resultados. Objetivo. Analizar los resultados en el tratamiento del FI en el niño a cargo de un programa multidisciplinar de Rehabilitación Intestinal que integra los tres procedimientos básicos: 1) técnicas de soporte nutricional; 2) farmacoterapia; 3) cirugía (que incluye reconstrucción autóloga del intestino y trasplante intestinal (TI). Material y métodos. 71 casos de FI prolongado (40 niñas, 31 niños), entre Julio 1997 y Abril 2006. Sólo se incluyen casos de FI considerados candidatos potenciales a TI. Resultados. Las causas de FI fueron síndrome de intestino corto 52; trastornos de motilidad 16; diarreas intratables 3. En 56 casos el FI era de comienzo neonatal, asociado a prematuridad en 18. El 76% de los niños (n=54) fueron enviados desde otros centros. Se obtuvo adaptación intestinal en 14 niños, en 7 tras reconstrucción autóloga (asociada en uno a hormona de crecimiento –HC-), y optimización de la dieta en 5 (uno asociada a HC); otro niño referido para TI por pseudoobstrucción y pérdida de accesos venosos adaptó tras comprobar que padecía una enfermedad de Hirschsprung. Cuatro niños fallecieron antes de poder ser incluidos para TI; otros 3 presentaban comorbilidades que contraindicaron el TI; 9 permanecen estables con nutrición parenteral domiciliaria, y 43 fueron puestos en lista (incluye dos niños que adaptaron tras ser incluidos y salieron de la lista). De ellos, 8 fallecieron en lista (todos candidatos a trasplante combinado incluyendo hígado), y 25 recibieron un total de 29 injertos (16 de hígado-intestino, 9 de intestino aislado, 3 multiviscerales y 1 hepático). Dieciséis de los niños trasplantados (64%) están vivos, de los cuales 14 están libres de NP (incluyendo los 4 niños retrasplantados), y dos están anentéricos en espera de retrasplante. La mortalidad en los niños trasplantados se relacionó principalmente con el mal estado previo al TI. Dos niños fallecieron por linfoma. Conclusiones. La integración de todas las modalidades de tratamiento del FI por un grupo multidisciplinar de profesionales con interés en el FI optimiza los resultados, gracias a la concentración de la experiencia, la posibilidad de interacción entre las distintas modalidades de tratamiento y la agilidad para poder realizar cambios rápidos de indicación. La posibilidad de realizar trabajos clínicos experimentales útiles se ve igualmente favorecida por la implementación de centros de Rehabilitación Intestinal (AU)

OBJETIVE: Our aim was to analyze our results in the management of intestinal failure with a multidisciplinary approach including optimized parenteral nutrition, reconstructive surgery and intestinal transplantation (ITx). MATERIAL AND METHODS: We included all patients evaluated by our team with the diagnosis of IF. We assessed outcome, mortality and complications in children that achieved adaptation and those listed for ITx. RESULTS: Seventy one children (40 boys, 31 girls) were evaluated between 1997 and 2006 because of IF. Forty eight (76%) were referred from other institutions. In 56 cases (80%) IF began in the newborn period. Causes of IF were: short bowel syndrome (52) intestinal motility disorders (16) and intestinal epithelial disorders (3). Median birth weight in the group of SBS was 2.2 Kg and prematurity was an associated condition in 15% of them. Overall, fourteen patients (20%) achieved intestinal adaptation with progressive weaning from PN, the management of these children consisted of optimized parenteral and enteral nutrition and autologous intestinal reconstructive surgery. Nine (13%) are stable under home parenteral nutrition regimen. Eight children (11%), all of them listed for liver and small bowel transplantation, died in the waiting list after a mean waiting time of more than 300 days, with a median of 4 laparotomies and 4 episodes of catheter related sepsis. Four children (5.6%) died in the adaptation process or before their inclusion on the waiting list. Finally, twenty five (35,2%) children underwent 28 intestinal transplantation: 9 isolated small bowel transplantation (SBTx), 16 combined liver and small bowel (CLSB) and 3 multivisceral (MVTx). Among transplanted patients, 9 (36%) died, (3 MVTx, 1 SBTx and 8 CLSB) and four were retransplanted. CONCLUSIONS: Intestinal Transplantation is an established alternative to parenteral nutrition in the treatment of IF, although complications and mortality rates are still considerable, especially MVTx and CLSBTx. Mortality in children listed for intestinal transplantation remains also high. Intestinal adaptation can be achieved with adequate rehabilitation therapy even in some cases with apparently irreversible intestinal transplantation. Early referral before liver failure or other complications arise is crucial is crucial in order to improve the outcome of these patients (AU)

Análisis de las encuestas de hábitos alimentarios realizadas en población escolar durante la 4ª edición del Día Nacional de la Nutrición (DNN) 2005 / No disponible

El día nacional de la nutrición (DNN) sigue siendo un marco importante y de mucho interés a nivel nacional. En el pasado año 2005, el 28de mayo estuvo dedicado a la alimentación infantil, bajo el lema “Ejercicio y buena alimentación para un futuro mejor”, donde se quiso profundizaren algunos aspectos de la alimentación de los niños españoles en edad escolar y transmitir el mensaje sobre la importancia de una buena nutrición en esta etapa de la vida, puesto que incide de forma decisiva en la salud del adulto. Para la evaluación del consumo alimentario habitual de los niños escolares en España, incluyendo el consumo de refrescos, golosinas, bollos y aperitivos, se han analizado los Datos de 2078 cuestionarios, auto-administrados, respondidos por los padres de los niños participantes de las charlas educativas sobre la alimentación infantil y la práctica de actividad física en esa edición del DNN. El cuestionario consistió en 14 preguntas cerradas de opción múltiple y una frecuencia de consumo habitual de alimentos. Los resultados observados corroboraron la importancia del desayuno como condicionante de un mejor patrón alimentario. Las frutas, verduras y legumbres, son las grandes olvidadas, paralelo a un consumo excesivo de fiambres. Sin embargo, el consumo de alimentos energéticos(arroz, pasta, patata, pan), de lácteos, huevos, carnes y pescado ha mostrado frecuencia y variabilidad aceptable en la mayoría de los niños. El hecho de disponer de dinero, así como la realización de la comida en el hogar implica un mayor consumo de chucherías, bollería, etc, y refuerza la importancia del rol de los padres en la adecuada oferta de alimentos. El elevado consumo de estos alimentos y, especialmente, de refrescos sigue siendo preocupante, porque parece estar repercutiendo negativamente en la elección de alimentos sanos. El consumo diario de alimentos de bajo valor nutricional pero de alto contenido calórico, añadido a la ingesta de alimentos y bebidas entre horas, pueden representar un riesgo para el desarrollo de sobrepeso, sobre todo si no existe una educación adecuada. Resulta importante aclarar conceptos de equivalencia nutricional de los alimentos, fundamentalmente en cuanto a vitaminas, minerales y fibra, así como la pérdida de nutrientes por la manipulación y procesos culinarios, puesto que se observó una marcada equivocación al elegir zumos de frutas en lugar de frutas frescas, verduras y patatas. Por todo ello, concluimos que si bien no debe excluirse ningún alimento, debemos seguir educando para una mejor selección de los mismos (AU)

The Nutrition National Day (DNN) has been representing an important educational event in Spain, being useful to population. In May 28th,2005, the DNN was dedicated to infant feeding with the slogan "Exercise and good food for a better future", in order to know some aspects of the feeding of children in scholar age and transmit the message about the importance of a good nutrition in this age, given that it affects, in a decisive manner, the adult health. To evaluate habitual nourishing consumption by Spanish children in scholar age, including beverages, sweets, buns and appetizers, 2078questionnaires were analyzed. These questionnaires were formed by 14 multiple-choice questions and a food frequency questionnaire; that were fulfilled by the parents of the children whose have participated in an educative conference about nutrition offered in selected schools in Spain. The results showed the importance of eating daily breakfast on better nourishing habits. The fruits, vegetables and grains, are less consumed, while cold cuts were much consumed. However, the energetic foods (like rice, mass, potatoes, bread), of dairy products, eggs, meats and fishes, demonstrated an acceptable frequency and variety of consumption in the majority of the children. When the children had money to spend by themselves and when they had a lunch at home, they used to eat more sweets, buns and appetizers, etc., emphasizing the importance of parents in the suitable education on the correct elections of foods. The high consumption of these foods, especially beverages, continues being worrisome, since it seems to be influencing negatively in the election of healthy foods. The daily consumption of food with low nutritional value, but with a high caloric content, together with an ingestion of foods and drinks out of meals time, may represent a risk of overweight, mainly if does not exist a suitable education. It would be interesting to elucidate some concepts of nutritional equivalency, specially based on vitamins, minerals, fibre, as well as loss of nutrients by manipulation and cooking process, because great mistakes was observed when a fruit juice was preferred to a fresh fruit, vegetables and potatoes. In conclusion, knowing that healthy people do not need to exclude any food of diet, it must benecessary to continue educating the population to get a better selection of foods (AU)

No evidence of association of the MYO9B polymorphisms with celiac disease in the Spanish population.

Inconsistent results concerning the association of polymorphisms in the MYO9B gene with celiac disease (CD) have been recently published. This gene encodes a myosin with a guanosine-triphosphatase (GTPase)-activating protein domain for the Rho-family of small G proteins, which are involved in cytoskeleton remodeling and therefore potentially involved in intestinal permeability. Functional and positional reasons led us to investigate the role of MYO9B polymorphisms in the Spanish CD population. A case-control study, including 415 CD patients and 433 ethnically matched healthy controls, and a familial study, including parents of 145 of those CD patients, was performed. Six MYO9B variants previously associated with CD were analyzed: rs2305767, rs2279003, rs962917, rs1457092, rs2305765 and rs2305764. No MYO9B variants or MYO9B haplotypes were found associated with CD, either before or after stratification of the patients for the human leucocyte antigen (HLA)-DQ2-positive risk factor. The family study revealed no distorted transmission of the aforementioned MYO9B polymorphisms or haplotypes. Our results support a negligible influence of this gene on CD predisposition.

A functional variant in the CD209 promoter is associated with DQ2-negative celiac disease in the Spanish population.

AIM: To address the role of CD209 in celiac disease (CD) patients. Non-human leukocyte antigen (HLA) genetic factors in CD predisposition are poorly understood, and environmental factors like infectious pathogens may play a role. CD209 is a dendritic and macrophage surface molecule involved in pathogen recognition and immune activation. Recently, a functional variant in the promoter of the CD209 gene (-336A/G) has been shown to affect the transcriptional CD209 activity in vitro and it has been associated with a higher susceptibility to/or severity of infection. METHODS: The study population was composed of two case-control cohorts of 103 and 386 CD patients and 312 y 419 healthy controls as well as a panel of 257 celiac families. Genotyping for the -336A/G CD209 promoter polymorphism was performed using a TaqMan 5' allelic discrimination assay. HLA-DQ was determined by hybridization with allele specific probes. RESULTS: Initially, the case-control and familial studies did not find any association of the -336 A/G CD209 genetic variant with CD susceptibility. However, the stratification by HLA-DQ2 did reveal a significant association of CD209 promoter polymorphism in the HLA-DQ2 (-) group (carrier A vs GG in DQ2 (-) vs DQ2 (+) patients (P = 0.026, OR = 3.71). CONCLUSION: The -336G CD209 allele seems to be involved in CD susceptibility in HLA-DQ2 (-) patients. Our results might suggest a possible role of pathogens in the onset of a minor group of CD patients.

La alimentación de los escolares del siglo XXI. El comedor escolar / Feeding of the school-age children of the XXI century. The school dining

La alimentación durante la infancia tiene una influenciaimportante en la salud del adulto.La obesidad, la enfermedad coronaria, la hipertensiónarterial y la osteoporosis están en relaciónde una u otra forma con la dieta.Los nuevos hábitos y estilos de vida de la poblaciónhan marcado un cambio en la alimentación delos escolares que se sienten influidos por sus padresy por la televisión que incitan al consumo frecuentede alimentos con “calorías vacías”.La ausencia de casa de los padres durante untiempo prolongado debido a su jornada laboral propiciaque los niños se vean obligados a realizar lacomida principal fuera del hogar, en un restauranteo en el comedor escolar.El comedor escolar debe ser el vehículo para iniciara los niños en la adquisición de buenos hábitosdietéticos, higiénicos y sociales.La educación nutricional en la escuela es clavepara enseñar a los niños un estilo de vida saludable

The feeding during the infancy have an importantinfluence on the health of the future adult.The obesity, the coronary disease, the arterial hypertensionand the osteoporosis are in a close relationshipin one way or another with the diet.The new habits and life styles of the populationhave labeled a substancial change in the alimentationof the young students that are influenced bytheir parents and by the television incitating to haveas usual food that one with “empty calories”.Parents absence during a extended time due totheir occupational sessions makes children able tohave their basic meals away from their home, in arestaurant or in the school dining room.The school dining room must be the appropriatevehicle to begin children in the acquisition of properdietetic habits, as well as, hygienic and social ones.The Nutritional education in the School is a veryimportant issue in order to teach a healthy life styleto children