[Home Enteral Nutrition (NED) in children and adolescents. Recommendations of the Nutrition Branch of the Chilean Society of Pediatrics]. / Nutrición Enteral Domiciliaria (NED) en niños y adolescentes. Recomendaciones de la Rama de Nutrición de la Sociedad Chilena de Pediatría.

The use of home enteral or parenteral nutrition has been a necessary step in the optimization of nu tritional support in patients who, due to several diseases, fail to meet their nutritional requirements by oral feeding. This article presents the recommendations of the Chilean Pediatric Society Nutritio nal Branch, aimed at health teams that treat pediatric patients who require enteral feeding for a long time. The general objective is to provide guidelines for the proper management of these patients. It describes the ideal conformation of the health team for the care and follow-up of those patients, the program admission criteria, and its evaluation method over time. In addition, it describes general characteristics of enteral feeding, routes of administration, available enteral formulas, complications, and patient follow-up.

Nutrición Enteral Domiciliaria (NED) en niños y adolescentes: recomendaciones de la Rama de Nutrición de la Sociedad Chilena de Pediatría / Home Enteral Nutrition (NED) in children and adolescents: recommendations of the Nutrition Branch of the Chilean Society of Pediatrics

Resumen: El uso de apoyo nutricional ambulatorio, enteral o parenteral, ha sido un paso necesario en la opti mización del soporte nutricional en pacientes, que, por diversas patologías, no logran cumplir con sus requerimientos por vía oral (VO). En el presente artículo se presentan las recomendaciones de la Rama de Nutrición, dirigidas a los equipos de salud que atienden pacientes pediátricos, que requieran alimentación enteral por un tiempo prolongado. Su objetivo general es entregar pautas para un co rrecto manejo en estos pacientes. Se describe la conformación ideal del equipo de salud para atención y seguimiento de dichos pacientes, los criterios de ingreso al programa y su forma de evaluación en el tiempo. Además, se describen características generales de la alimentación enteral, vías de admi nistración, fórmulas enterales disponibles, complicaciones de este soporte nutricional y por último monitorización y seguimiento del paciente.

Abstract The use of home enteral or parenteral nutrition has been a necessary step in the optimization of nu tritional support in patients who, due to several diseases, fail to meet their nutritional requirements by oral feeding. This article presents the recommendations of the Chilean Pediatric Society Nutritio nal Branch, aimed at health teams that treat pediatric patients who require enteral feeding for a long time. The general objective is to provide guidelines for the proper management of these patients. It describes the ideal conformation of the health team for the care and follow-up of those patients, the program admission criteria, and its evaluation method over time. In addition, it describes general characteristics of enteral feeding, routes of administration, available enteral formulas, complications, and patient follow-up.

The Regulation of Differentiation of Mesenchymal Stem-cells into Skeletal Muscle: A Look at Signalling Molecules Involved in Myogenesis.

Mesenchymal Stem Cells (MSCs) are an attractive option for the development of treatment for musculoskeletal pathologies due to their wide availability, clinical safety and multiple techniques available. Understanding the control of MSC differentiation into skeletal muscle is vital for developing protocols and therapeutic applications that are safe and effective. This paper therefore aims to review the current understanding of factors that regulate the differentiation of MSCs into skeletal muscle. Medline, Embase, Pubmed and Web of Science were searched for December 2015 using the terms 'differentia*, skeletal*, skeleton*, myocyt*, myogen* and mesenchym* stem-cell*. This returned a total of 1215 results. 48 papers were included in the review. Forty-eight studies were reviewed. Eight related to external signalling molecules, sixteen related to local environmental factors and twenty-four related to intracellular signalling pathways. Uniaxial strain, medium stiffness of the extracellular matrix and submicron grooved topography were identified as promoting myogenesis. TGF-ß was identified as a main inhibitor of myogenesis. Smad and Pax signalling were identified as important intracellular pathways and the relationship of menin, Setdb1, GEFT, PAX3-FOXO1, IGF-II, TAZ and PRDM2 with MyoD and MyoG was explored. Further research into the effect of the inflammatory response on skeletal muscle differentiation is suggested. Clarification of the mechanism of action of TGF-ß, the role of submicron grooves and cyclic uniaxial strain, and two important factors in the development of tissue scaffolds.

Cortisol y amilasa salival en niñas: variación según la curva diurna, la ingesta de alimentos y la actividad física / Diurnal variation of salivary cortisol and alpha amylase levels in normal girls: effects of meals and physical exercise

Salivary cortisol levels and saliva alpha-amylase enzymatic activity are non-invasive markers of hypothalamic-pituitary-adrenal axis and autonomic nervous system related to stress, which could be associated with excessive energy intake in response to stressors. Aim: To describe the diurnal variation of salivary cortisol levels and á-amylase activity in prepubertal girls and to assess their change after meals and physical activity episodes. Subjects and Methods: Nine normal-weight girls aged 8 to 10 years were monitored for 14 hours, from 6:00 AM to 20:00 h. Three standardized meals were administered across the day with a controlled sport competition performed at the end of the day. Saliva samples were drawn upon awakening, 30 min after awakening, before and after lunch, before and after dinner, and before-after the controlled episode of physical activity. Results: A decreasing salivary cortisol diurnal pattern was confirmed, with an initial increase occurring 30 minutes after waking up. An ascending diurnal pattern was observed for salivary amylase activity. Meals significantly increased cortisol levels, with a non-significant trend to increase amylase activity. The magnitude of physical activity during acute exercise was associated with increased salivary amylase activity (rho = 0.84; P <0.01). Cortisol levels were positively correlated with body mass index z scores (rho = 0.87; P <0.01). Conclusions: We confirmed the existence of a diurnal pattern of salivary cortisol levels and á-amylase activity in saliva that is modulated by diet and exercise. Our preliminary results also show that salivary cortisol might be related with body weight...

[Alternatives to estimate stature during nutritional assessment of children with cerebral palsy]. / Estimación de la talla en la evaluación nutricional de niños con parálisis cerebral.

INTRODUCTION: The assessment of nutritional status plays a critical role in comprehensive child care, however, in children with cerebral palsy (CP) is difficult to meet some reliable anthropometric measures, particularly height. OBJECTIVE: To determine if the equations to estimate stature, developed and validated in CP populations of other countries, apply to our reality. PATIENTS AND METHOD: An anthropometric assessment in 60 children with cerebral palsy that included measurement of weight, height and body segments like tibia length (TL) and knee height (KH) was performed. The height was estimated using the above described segments and the Stevenson et al.¹ equations. The correlation and agreement between the measured and the estimated stature were evaluated. RESULTS: Height could be reliably measured in 36 individuals and in all cases height was estimated. The correlation between the measured and the estimated lengths for TL and KH was 0.975 and 0.981 respectively (p < 0.001). The analysis of agreement between the estimated and measured lengths showed on average a significant level of agreement, with an error of -2.96 cm for TL and 0.21 cm for KH. CONCLUSIONS: The equations to estimate stature from the body segments, tibia length and knee height, are valid and useful to assess the linear growth in children with CP in our population.

Diagnóstico y tratamiento de las dislipidemias en niños y adolescentes: recomendaciones de la rama de nutrición de la sociedad chilena de pediatría / Dyslipidemia management in children and adolescents: recommendations of the nutrition branch of the chilean society of pediatrics

La prevalencia de dislipidemias ha aumentado en niños y adolescentes, muchas de ellas asociadas al incremento de la obesidad. Puesto que constituyen un factor de riesgo cardiovascular futuro, deben conocerse las bases de su tratamiento. En la gran mayoría de los pacientes, éste consiste en cambios de estilo de vida, con dieta específica y aumento de la actividad física, presentando habitualmente una respuesta favorable. Solo una minoría requiere tratamiento medicamentoso, el que debe ser realizado por especialista en el contexto de una evaluación completa del perfil de riesgo cardiovascular, con la inclusión del paciente y su familia. Sin embargo, la prevención de los factores de riesgo cardiovascular debe ser realizada por todos los miembros del equipo de salud. Este artículo presenta las recomendaciones de la Rama de Nutrición de la Sociedad Chilena de Pediatría para el diagnóstico, tamizaje y tratamiento de las dislipidemias en la niñez.

The prevalence of dyslipidemia has dramatically increased in children and adolescents, and many of these cases are associated with increased obesity. As this condition represents cardiovascular risk in the future, the bases of its treatment should be widely known. In the vast majority of patients, there will be lifestyle changes, specific diet and increased physical activity, usually all of these resulting in a favorable response. Only a minority will require drug treatment, which must be prescribed by a specialist in the context of a comprehensive cardiovascular risk assessment, including the patient and his family. The prevention of cardiovascular risk factors should be performed by all members of the health team. This article presents the recommendations of the Nutrition specialists of the Chilean Society of Pediatrics for screening, diagnosis and treatment of dyslipidemia in childhood.

Estimación de la talla en la evaluación nutricional de niños con parálisis cerebral / Alternatives to estimate stature during nutritional assessment of children with cerebral palsy

Introduction: The assessment of nutritional status plays a critical role in comprehensive child care, however, in children with cerebral palsy (CP) is difficult to meet some reliable anthropometric measures, particularly height. Objective: To determine if the equations to estimate stature, developed and validated in CP populations of other countries, apply to our reality. Patients and Method: An anthropometric assessment in 60 children with cerebral palsy that included measurement of weight, height and body segments like tibia length (TL) and knee height (KH) was performed. The height was estimated using the above described segments and the Stevenson et al.¹ equations. The correlation and agreement between the measured and the estimated stature were evaluated. Results: Height could be reliably measured in 36 individuals and in all cases height was estimated. The correlation between the measured and the estimated lengths for TL and KH was 0.975 and 0.981 respectively (p < 0.001). The analysis of agreement between the estimated and measured lengths showed on average a significant level of agreement, with an error of -2.96 cm for TL and 0.21 cm for KH. Conclusions: The equations to estimate stature from the body segments, tibia length and knee height, are valid and useful to assess the linear growth in children with CP in our population.

Introducción: La evaluación del estado nutricional es fundamental en el cuidado integral del niño, sin embargo, en los niños con parálisis cerebral (PC) existe dificultad para obtener medidas antropométricas confiables, particularmente de la estatura. Objetivo: Determinar si las ecuaciones para estimar la talla, desarrolladas y validadas en población con PC de otras nacionalidades, tienen aplicabilidad en nuestro medio. Pacientes y Método: Se realizó una evaluación antropométrica en 60 niños con parálisis cerebral que incluyó la medición del peso, la talla y los segmentos corporales: Longitud de la tibia (LT) y altura de rodilla (AR). La talla se estimó usando los segmentos antes descritos y las ecuaciones de Stevenson et al¹. Se evaluó la correlación y concordancia entre la talla medida y la estimada. Resultados: En 36 individuos la talla pudo ser medida de manera confiable y en todos los casos la talla también se estimó. La correlación entre la longitud medida y la estimada con LT y fue de 0,975 y de 0,981 respectivamente (p < 0,001). El análisis de la concordancia entre longitud estimada y longitud medida, en promedio, mostró un importante nivel de acuerdo, evidenciando un error sistemático de -2,96 cm en la talla estimada con el segmento LT y de 0,21 cm con AR. Conclusiones: Las ecuaciones para estimar la talla a partir de los segmentos corporales, longitud de tibia y altura de rodilla, son válidas y útiles, para evaluar el crecimiento lineal de los niños con PC en nuestro medio, ante la dificultad de obtener medidas lineales convencionales.

[Dyslipidemia management in children and adolescents: recommendations of the Nutrition Branch of the Chilean Society of Pediatrics]. / Diagnóstico y tratamiento de las dislipidemias en niños y adolescentes: recomendaciones de la Rama de Nutrición de la Sociedad Chilena de Pediatría.

The prevalence of dyslipidemia has dramatically increased in children and adolescents, and many of these cases are associated with increased obesity. As this condition represents cardiovascular risk in the future, the bases of its treatment should be widely known. In the vast majority of patients, there will be lifestyle changes, specific diet and increased physical activity, usually all of these resulting in a favorable response. Only a minority will require drug treatment, which must be prescribed by a specialist in the context of a comprehensive cardiovascular risk assessment, including the patient and his family. The prevention of cardiovascular risk factors should be performed by all members of the health team. This article presents the recommendations of the Nutrition specialists of the Chilean Society of Pediatrics for screening, diagnosis and treatment of dyslipidemia in childhood.

Evaluación clínica del uso de nutrición enteral domiciliaria en pacientes pediátricos / Clinical evaluation in pediatric patients with home enteral nutrition

Introducción: La nutrición enteral (NE) es la entrega de nutrientes al tracto gastrointestinal mediante una sonda nasogástrica (SNG), nasoyeyunal (SNY) o de gastrostomía (GTT); siendo la ruta preferida para satisfacer las necesidades nutricionales cuando la vía oral está contraindicada o es insuficiente. Objetivo: Describir el perfil de pacientes pediátricos que requirieron NE domiciliaria y su efecto en el estado nutritivo. Sujetos y Método: Estudio analítico retrospectivo, en 37niños hospitalizados en el Servicio de Pediatría del Hospital Clínico Universidad Católica (UC) que fueron dados de alta con soporte nutricional enteral durante el período de Abril 2010 a Abril 2011. Resultados: La indicación principal para iniciar soporte nutricional fue trastorno de deglución (n=27), siendo la mayoría de los pacientes menores de 1 año al momento de recibir la indicación (n=27). El tipo de dispositivo más utilizado fue GTT (n=20). No hubo complicaciones asociadas al uso de SNG. Las complicaciones asociadas al uso de GTT fueron: granuloma periostomal (n=7), neumonía por aspiración (n=3) y retiro accidental (n=1). Del total de pacientes evaluados, un 62% presentaba desnutrición calórico-proteica al inicio de la NE versus 30% al último control (p<0,001). Conclusión: El uso de soporte nutricional enteral permite recuperar y/o mantener el estado nutricional de losniños con trastornos de la deglución y alteraciones en la curva del crecimiento, mejora la calidad de vida, y presenta una tasa baja de complicaciones mayores.

Enteral nutrition (EN) is the delivery ofnutrients to the gastrointestinal tract by nasogastric (SNG), nasojejunal (SNY) or gastrostomy (GTT), being the preferred route to fulfill nutritional needs when the oral route is contraindicated or inadequate. Objective: To describe the clinical profile of pediatric patients with home EN and to assess their nutritional status. Subjects and methods: A retrospective analytic study in 37 children from the Pediatric Service Hospital Clinico UC, discharged with enteral nutrition support from April 2010 to April 2011. Results: The main indication to use EN was swallowing disorder (n=27). 73% began EN before one year of life. GTT was the principal route to EN (n=20). There were no complications associated to NGT or OGT. The reported complications associated with GTT were periosteal granuloma (n=7), aspiration pneumonia (n=3) and accidental removal (n=1). 62% ofpatients had protein-calorie malnutrition (z-score W/H) at baseline vs. 30% at the last control (p<0,001). Conclusion: The use of enteral nutrition allows to restore and/ or to maintain nutritional status in children with swallowing disorder or undernutrition. This feeding procedure also improves the quality of life and promotes a proper development without major complications.

Programa MINSAL-FONASA para Tratamiento de la Obesidad Infanto-Juvenil / MINSAL-FONASA Pilot Study in obese children and adolescents

La disminución de la obesidad es un objetivo sanitario para la década. Objetivo: Evaluar respuesta antropométrica, metabólica y adherencia a corto plazo, a un modelo de intervención en obesidad infantil. Sujetos y Método: Niños(as) obesos, 6-19 años, ingresados a un programa piloto; intervención multidisciplinaria, de 4 meses de duración. Se evaluó al ingreso y 4 meses 1MC, perímetro de cintura (PC), lípidos plasmáticos, glicemia e insulinemia. Resultados: Ingresaron 402 pacientes, 12,2 años (6,3 a 18,2 años); 56,5% mujeres, zIMC al ingreso 2,92 (1,7 a 7,7); PC 92,3 ± 11,1cm; HOMA 2,45 (0,37 a 17,79). El 39,1% presentaba un CT > 170 mg/dL; 26,5%; LDL > 110 mg/dL; 30,9% HDL < 40 mg/dL y 37%; TG > 110 mg/dl. El 66,9% completó el programa, 68,4% de éstos bajó el zIMC (3,13 ingreso vs 2,77 cuarto mes, p < 0,05) sin relación con edad, sexo, ni zIMC inicial. El grupo que completó el programa tenía un zIMC al ingreso significativamente mayor (3,1 ví 2,74, p < 0,05). Del grupo con exámenes alterados al ingreso y repitieron al cuarto mes, 54% disminuyeron HOMA, 59% bajaron el CT y 66% los TG, sin relación con descenso ponderal, disminución de PC, ni HOMA. Conclusión: Un alto porcentaje de los niños(as) completa el programa, presentando mayor adherencia quienes tienen zIMC más alto al ingreso. El programa logra mejoría en estado nutricional y variables metabólicas a corto plazo, y justificaría su aplicación en atención primaria de salud.

Reducing the prevalence of childhood obesity is a sanitary goal for the decade. Objective: To evaluate a short time intervention model in childhood obesity on its anthropometric and metabolic impact. Methods: Prospective evaluation of obese children and adolescents, 6 to 19 years of age. A pilot treatment program from the Public Health System and FONASA was conducted as a multidisciplinary, non-pharmacologic intervention, during a 4-month follow-up period. Body Mass Index (BM1), waist circumference, lipid profile, plasma glucose and HOMA index were evaluated. In a subset of the subjects the blood profile was repeated on the 4th month. Results: 402 patients entered the program, 56,5% females, age 12,2 years (range 6,3-18,2). Baseline mean BMl z score was 2,92 (1,7 to 7,7), mean waist circumference was 92,3 ±11,1 cm. A total cholesterol (TC) >170 mg/dL was founded in 39,1% of patients; LDL >110 mg/ dL, 26,5%; HDL < 40 mg/dL, 30,9%, and TG > 110 mg/ dL in 37% of patients. The median HOMAwas 2,45 (0,37 to 17,79). The program was completed by 66,9% of patients, 68,4% of these reduced z score BMl at the 4-month evaluation (3,13 baseline vs 2,74, p < 0.05), without correlation with age, gender, or baseline BMl z score. The group who completed the program showed a BMl z score at baseline significantly higher than their counterparts (3,1 vs 2,74, p < 0,05). 118 subjects were reevaluated, 59 % of them showed a decrease in HOMA index. From the group of patients with high TC levels at baseline, 54% reduced the TC and 66% TG, without relation to weight, waist circumference or HOMA reduction. Conclusion: a high percentage of children succeeded in completing the program, showing better adherence those who were more overweight at the entrance of the program. The program showed an improvement in the nutritional state and in metabolic factors.

Validación factorial de un cuestionario para medir la conducta de comer en ausencia de hambre y su asociación con obesidad infantil / A questionnaire to measure eating behavior in the absence of hunger and its association with childhood obesity

Background: It has been observed that some psychological factors tend to stimulate food intake in the absence of hunger in obese children. objective: To evaluate whether obese children have a greater tendency to eat in the absence of hunger, in response to various emotional and environmental factors versus normal weight children. subjects and Methods: Obese patients were selected according to NCHS/CDC2000 (n = 49 and n = 99 for non-obese children), males and females in the age group of 6-12 years who consulted in the UC health network and also children that were evaluated in schools located in southeastern Santiago. The questionnaire "Eating in the absence of hunger" was used, which measures three subscales: external stimuli, fatigue/boredom and negative feelings. results: Factor analysis showed a significant degree of overlap between the "fatigue/boredom" and "negative feelings" subscales. Obese children had higher scores on "external stimuli" versus normal weight children (median 2.7 compared to 1.7, p < 0.001). In the "fatigue/boredom" subscale, scores of 2.5 versus 1.2 (p < 0.001) were obtained, while in "negative feelings", scores reported 2.0 versus 1.2 (p = 0.0013). Conclusions: Obese patients reported higher scores on the questionnaire "Eating in the absence of hunger" than non-obese children, identifying modifiable and educable stimuli that could prevent this eating behavior.

Introducción: Se ha observado que en los niños obesos, algunos factores psicológicos tienden a estimular la ingesta de alimentos en ausencia de hambre. objetivo: Evaluar si los niños obesos presentan mayor tendencia a comer en ausencia de hambre, en respuesta a distintos factores emocionales y ambientales, en comparación con niños normopeso. Pacientes y Método: Se seleccionaron pacientes obesos según NCHS/CDC2000 (n = 49) y normopeso (n = 99) de ambos sexos y con edades entre 6-12 años, que consultaron en forma espontánea en la Red de Salud UC y niños evaluados en colegios del sector suroriente de Santiago. Se aplicó el cuestionario "Comer en ausencia de hambre" que mide tres subescalas: Estímulos externos, cansancio/aburrimiento y sentimientos negativos. resultados: El análisis factorial reveló un importante grado de solapamiento entre las ponderaciones de las subescalas "cansancio/aburrimiento" y "sentimientos negativos". Los niños con obesidad presentaron mayores puntajes en la dimensión "estímulos externos" que los niños normopeso (mediana de 2,7 versus 1,7; p < 0,001). En "cansancio/aburrimiento" se obtuvieron puntajes de 2,5 versus 1,2 (p < 0,001) mientras que en "sentimientos negativos" los puntajes fueron 2,0 versus 1,2 (p = 0,0013). Conclusiones: Los pacientes obesos presentaron mayores puntajes en la encuesta alimentaria "Comer en ausencia de hambre" que los niños normopeso, pudiendo identificarse estímulos modificables y educables que podrían prevenir esta conducta alimentaria.

Estimación de masa grasa en niños chilenos: ecuaciones de pliegues subcutáneos vs densitometría de doble fotón / Estimation of body fat in Chilean children: comparing subcutaneous fold equations amd doble photon densitometry

Estimation of thickness of subcutabeous folds (SqF) is a simple way to estimate body composition in children, although it has its limitations. Double photon densitometry (DXA) is considered a new standard. Objective: To compare the precision of estimation of body fat by SqF and DXA in a population of Chilean children. Patients and Methods: Body fat was estimated in 128 eutrophic healthy children (70 females, 58 males), between 2 and 18 y.o. through SqF equations and DXA. Differences between both methods were evaluated through the Bland and Altman method and Lin concordance coefficient. Results: Most SqF equations had poor concordance with DXA. There was better concordance if the Westrate and Deurenberg equation was used among prepuberal and children of all ages (average difference of 2,96 +/- 1,20 percent and 4,92 +/- 0,98 percent and Lin concordance index of 0,50 +/- 0,22 and 0,43 +/- 0,88, respectively). Conclusions: Body fat estimated through subcutaneous fold measurements is poorly correlated with double photon densitometry among Chilean children. However, until more precise equations are developed, Westrate and Deurenberg for all ages, and Westrate/Deurenberg specific for pre-puberal age can be used.

La estimación del grosor de pliegues subcutáneos (PS) es una manera simple de estimar composición corporal en niños, sin embargo, tiene limitaciones. La densitometría de doble fotón (DXA) es considerada como el nuevo estándar de referencia. Objetivo: Comparar la precisión de la estimación del porcentaje de masa grasa por PS con la obtenida por DXA en población infantil chilena. Pacientes y Método: Se estimó el porcentaje de masa grasa en 128 niños (70 mujeres y 58 hombres) sanos, eutróficos, entre 2 y 18 años, por diversas ecuaciones de PS y se comparó con DXA. La diferencia entre ambos mediciones fue evaluada mediante el método de Bland y Altman y el coeficiente de concordancia de Lin. Resultados: La mayoría de las ecuaciones de PS tuvieron un pobre nivel de concordancia con DXA. Sin embargo, existe una mejor concordancia entre lo calculado según PS y DXA tanto en niños pre-puberales con la fórmula específica de Westrate y Deurenberg y en niños de todas las edades, con la ecuación general de Westrate y Deurenberg (diferencia promedio de 2,96 +/- 1,20 por ciento y 4,92 +/- 0,98 por ciento e índice de concordancia de Lin de 0,50 +/- 0,22 y 0,43 +/- 0,88, respectivamente) Conclusiones: La estimación del porcentaje de masa grasa a partir de los PS, tiene una baja concordancia, sin embargo, mientras no se desarrollen ecuaciones con una precisión más alta se podrían utilizar las ecuaciones de Westrate y Deurenberg a todas las edades y la de Westrate y Deurenberg específica para la edad pre-puberal.

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.

ARX mutations cause a diverse spectrum of human disorders, ranging from severe brain and genital malformations to non-syndromic intellectual disability (ID). ARX is a transcription factor with multiple domains that include four polyalanine (pA) tracts, the first two of which are frequently expanded by mutations. We progressively screened DNA samples from 613 individuals with ID initially for the most frequent ARX mutations (c.304ins(GCG)(7)'expansion' of pA1 and c.429_452dup 'dup24bp' of pA2). Five hundred samples without pA1 or pA2 mutations had the entire ARX ORF screened by single stranded polymorphism conformation (SSCP) and/or denaturing high pressure liquid chromatography (dHPLC) analysis. Overall, eight families with six mutations in ARX were identified (1.31%): five duplication mutations in pA2 (0.82%) with three new clinical reports of families with the dup24bp and two duplications larger than the dup24bp mutation discovered (dup27bp, dup33bp); and three point mutations (0.6%), including one novel mutation in the homeodomain (c.1074G>T). Four ultraconserved regions distal to ARX (uc466-469) were also screened in a subset of 94 patients, with three unique nucleotide changes identified in two (uc466, uc467). The subcellular localization of full length ARX proteins was assessed for 11 variants. Protein mislocalization increased as a function of pA2 tract length and phenotypic severity, as has been previously suggested for pA1. Similarly, protein mislocalization of the homeodomain mutations also correlated with clinical severity, suggesting an emerging genotype vs cellular phenotype correlation.

Trastornos alimentarios del lactante y preescolar / Eating disorders in nursing and preschool children

Eating disorders among nursing and preschool children are a common cause of outpatient consultation in pediatrics and nutrition. It is essential to rule out organic causes, especially when there is nutritional involvement. Among non-organic causes there are several subtypes depending upon the trigger. Environmental and nutritional factors can be modified. Curiously, many of them are directly related to the perception of hunger and satiety the individual will develop from childhood.

Los trastornos de la alimentación en el lactante y preescolar siguen siendo un motivo frecuente de consulta en policlínicos de pediatría y nutrición infantil. Descartar causas orgánicas, sobre todo cuando existe compromiso nutricional, es de fundamental importancia. Dentro de los trastornos de origen no orgánico existen varios subtipos dependiendo de la causa desencadenante. Muchos factores involucrados tanto ambientales como nutri-cionales, son susceptibles de ser modificados. Curiosamente, muchos de ellos se relacionan directamente con la capacidad de percepción de las sensaciones de hambre y saciedad que el individuo desarrollará desde niño.

Programa MINSAL-FONASA para tratamiento de la obesidad infanto-juvenil / MINSAL-FONASA pilot study in obese children and adolescents

Reducing the prevalence of childhood obesity is a sanitary goal for the decade. Objective: To evaluate a short time intervention model in childhood obesity on its anthropometric and metabolic impact. Methods: Prospective evaluation of obese children and adolescents, 6 to 19 years of age. A pilot treatment program from the Public Health System and FONASA was conducted as a multidisciplinary, non-pharmacologic intervention, during a 4-month follow-up period. Body Mass Index (BM1), waist circumference, lipid profile, plasma glucose and HOMA index were evaluated. In a subset of the subjects the blood profile was repeated on the 4th month. Results: 402 patients entered the program, 56,5 percent females, age 12,2 years (range 6,3-18,2). Baseline mean BMl z score was 2,92 (1,7 to 7,7), mean waist circumference was 92,3 +/-11,1 cm. A total cholesterol (TC) >170 mg/dL was founded in 39,1 percent of patients; LDL >110 mg/dL, 26,5 percent; HDL < 40 mg/dL, 30,9 percent, and TG > 110 mg/dL in 37 percent of patients. The median HOMA was 2,45 (0,37 to 17,79). The program was completed by 66,9 percent of patients, 68,4 percent of these reduced z score BMl at the 4-month evaluation (3,13 baseline vs 2,74, p < 0.05), without correlation with age, gender, or baseline BMl z score. The group who completed the program showed a BMl z score at baseline significantly higher than their counterparts (3,1 vs 2,74, p < 0,05). 118 subjects were reevaluated, 59 percent of them showed a decrease in HOMA index. From the group of patients with high TC levels at baseline, 54 percent reduced the TC and 66 percent TG, without relation to weight, waist circumference or HOMA reduction. Conclusion: a high percentage of children succeeded in completing the program, showing better adherence those who were more overweight at the entrance of the program. The program showed an improvement in the nutritional state and in metabolic factors.

La disminución de la obesidad es un objetivo sanitario para la década. Objetivo: Evaluar respuesta antropométrica, metabólica y adherencia a corto plazo, a un modelo de intervención en obesidad infantil. Sujetos y Método: Niños(as) obesos, 6-19 años, ingresados a un programa piloto; intervención multidisciplinaria, de 4 meses de duración. Se evaluó al ingreso y 4 meses 1MC, perímetro de cintura (PC), lípidos plasmáticos, glice-mia e insulinemia. Resultados: Ingresaron 402 pacientes, 12,2 años (6,3 a 18,2 años); 56,5 por ciento mujeres, zIMC al ingreso 2,92 (1,7 a 7,7); PC 92,3 +/- 11,1cm; HOMA 2,45 (0,37 a 17,79). El 39,1 por ciento presentaba un CT > 170 mg/dL; 26,5 por ciento; LDL > 110 mg/dL; 30,9 por ciento HDL < 40 mg/dL y 37 por ciento; TG > 110 mg/dl. El 66,9 por ciento completó el programa, 68,4 por ciento de éstos bajó el zIMC (3,13 ingreso vs 2,77 cuarto mes, p < 0,05) sin relación con edad, sexo, ni zIMC inicial. El grupo que completó el programa tenía un zIMC al ingreso significativamente mayor (3,1 ví 2,74, p < 0,05). Del grupo con exámenes alterados al ingreso y repitieron al cuarto mes, 54 por ciento disminuyeron HOMA, 59 por ciento bajaron el CT y 66 por ciento los TG, sin relación con descenso ponderal, disminución de PC, ni HOMA. Conclusión: Un alto porcentaje de los niños(as) completa el programa, presentando mayor adherencia quienes tienen zIMC más alto al ingreso. El programa logra mejoría en estado nutricional y variables metabólicas a corto plazo, y justificaría su aplicación en atención primaria de salud.

Effect of photobiomodulation on vinblastine-poisoned murine HERS cells.

OBJECTIVE: The aim of this study was to investigate the effect of near-infrared (NIR) photobiomodulation on the proliferation and glutathione levels in murine Hertwig's epithelial root sheath (HERS) cells after poisoning with vinblastine. BACKGROUND: Photobiomodulation has been shown to improve wound healing in a number of animal models. There have been no studies on the effect of photobiomodulation on cancer-related chemotherapy injury to the cells that initiate tooth root growth. MATERIALS AND METHODS: Control groups consisted of murine HERS cells without vinblastine (VB-) and cells with vinblastine at 10, 20, and 30 ng/mL (VB10, VB20, and VB30). Experimental groups consisted of these same groups with light therapy (VB-L, VB10L, VB20L, and VB30L). The cells were exposed to vinblastine for 1 h. Photobiomodulation consisted of a 75-cm(2) gallium-aluminum-arsenide light-emitting diode (LED) array at an energy density of 12.8 J/cm(2), delivered with 50 mW/cm(2) power over 256 s. RESULTS: Vinblastine alone significantly decreased HERS cell proliferation and glutathione levels at all concentrations (VB10 [-55%, p < 1.0 × 10(-8)]; VB20 [-72%, p < 1.0 × 10(-9)]; VB30 [-80%, p < 1.0 × 10(-10)]; and VB10 [-36%, p < 0.0001]; VB20 [-49%, p < 1.0 × 10(-6)]; VB30 [-53%, p < 1.0 × 10(-7)] respectively). Photobiomodulation significantly increased cell proliferation at all levels of vinblastine exposure (VB10L [+50%, p < 0.0001]; VB20L [+45%, p < 0.05]; VB30 [+39%, p < 0.05]) but not of the control (+22%, p = 0.063). The photobiomodulation significantly increased glutathione production in all concentrations of vinblastine except 20 ng/mL (VB10L [+39%, p = 0.007]; VB20L [+19%, p = 0.087]; VB30 [+14%, p = 0.025]) and the control (+12%, p = 0.13). CONCLUSIONS: Photobiomodulation demonstrated an improvement in proliferation and glutathione levels in vinblastine-poisoned murine HERS cells.

D-lactoacidosis como complicación del síndrome de intestino corto / D-lactoacidosis as short bowel syndrome complication

Short bowel syndrome is defined as the loss, congenital or acquired, anatomical or functional, of a large part of the small intestine that generates inadequate absorption of nutrients and the frequent need of prolonged parenteral nutrition. The etiology of short bowel is diverse and varies with age. The necrotizing enterocolitisis and the midgut volvulus are among the most frequent causes. The bacterial overgrowth is frequently observed in children with short bowel, due to the secondary dilation of the remaining small bowel and to the associated intestinal dysmotility. It is more frequent in absence of the ileocecal valve. We present a 6-year-old boy with short bowel syndrome secondary to extensive intestinal resection after a volvulous of the medium small intestine, 9 months before admission to the hospital, and who was on cyclical parenteral nutrition at home. The child developed ataxia, disarthria, dizziness and conscience compromise been admitted to de intensive care unit in deep sopor. An extensive work up including metabolic, infectious, toxicology and SNC imaging was negative except for metabolic acidosis. He was discharged on good conditions. Even though the child was on supportive therapy, the patient was readmitted few hours later with similar symptoms. D-lacto acidosis was suspected and confirmed with a value of 6.69 mmol/1 (normal range: 0,0-0,25). Literature about this uncommon complication and its mechanism is reviewed. D-lacto acidosis should be suspected in every patient with short bowel syndrome and unexplained metabolic acidosis associated with neurological symptoms.

El síndrome de intestino corto se define como la pérdida, congénita o adquirida, anatómica o funcional, de una extensa área del intestino delgado que genera inadecuada absorción de nutrientes y la frecuente necesidad de nutrición parenteral prolongada. Su etiología varía con la edad. Entre las causas más frecuentes están la enterocolitis necrotizante y el vólvulo de intestino medio. El sobrecrecimiento bacteriano es frecuente en estos pacientes, debido a la dilatación secundaria del remanente de intestino delgado y a la dismotilidad intestinal asociada. Objetivo: Comunicar un caso de acidosis D-láctica en un niño con Intestino corto. Caso clínico: Niño de 6 años con antecedente de intestino corto secundario a resección intestinal por vólvulo de intestino medio 9 meses previos al ingreso y que estaba recibiendo nutrición parenteral domiciliaria ciclada. El niño desarrolló ataxia, disartria, mareos y compromiso de conciencia, ingresando a la unidad de cuidados intensivos en sopor profundo. Un extenso estudio metabólico, infectológico, toxicológico y de neuroimágenes fue negativo, excepto por acidosis metabólica. Fue dado de alta en buenas condiciones. A pesar del tratamiento de soporte vuelve a ingresar horas después con similar cuadro clínico. Se sospecha y confirma elevación de D-lactato en sangre (6,69 mmol/1 con rango normal de 0,0-0,25). Se revisa la literatura acerca de esta infrecuente complicación y su mecanismo de producción. La D-lactoacidosis debiera ser sospechada en todos los pacientes portadores de intestino corto que presenten un cuadro de acidosis metabólica no explicada, especialmente si se acompaña de compromiso de conciencia y síntomas cerebelosos.

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

Rare GABA(A) receptor gamma2 and alpha1 subunit mutations of pathogenic effect have been described segregating in families with "monogenic" epilepsies. We now report globally on the genetic variation contained within all 16 neuronal GABA(A) receptor subunit genes from the one patient cohort. The cohort consists of GEFS(+), FS, and IGE subgroups as either sporadic cases or index cases from small families, with one index case from one large IGE family. The rarity of mutations and coding variation in general across all of the subunits suggests a low tolerance for mutations affecting GABA mediated neuronal inhibition. Characterization of the broader channelopathy load associated with susceptibility to these common epilepsies mostly with complex genetics will need to be expanded beyond the family of GABA(A) receptor subunits to all families of neuronal ion channels and their interacting molecules by systematic mutation detection associated with functional investigation of their naturally occurring genetic variations.

NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity.

Photosensitive seizures occur most commonly in childhood and adolescence, usually as a manifestation of complex idiopathic generalized epilepsies (IGEs). Molecular mechanisms underlying this condition are yet to be determined because no susceptibility genes have been identified. The NEDD4-2 (Neuronally Expressed Developmentally Downregulated 4) gene encodes a ubiquitin protein ligase proposed to regulate cell surface levels of several ion channels, receptors and transporters involved in regulating neuronal excitability, including voltage-gated sodium channels (VGSCs), the most clinically relevant of the epilepsy genes. The regulation of NEDD4-2 in vivo involves complex interactions with accessory proteins in a cell type specific manner. We screened NEDD4-2 for mutations in a cohort of 253 families with IGEs. We identified three NEDD4-2 missense changes in highly conserved residues; S233L, E271A and H515P in families with photosensitive generalized epilepsy. The NEDD4-2 variants were as effective as wild-type NEDD4-2 in downregulating the VGSC subtype Na(v)1.2 when assessed in the Xenopus oocyte heterologous expression system showing that the direct interaction with the ion channel was not altered by these variants. These data raise the possibility that photosensitive epilepsy may arise from defective interaction of NEDD4-2 with as yet unidentified accessory or target proteins.