Intervención nutricional en niños y adolescentes con fibrosis quística. Relación con la función pulmonar

[email protected]; [email protected];Objetivo: Evaluar los efectos de la intervención nutricional precoz y continuada en pacientes pediátricos con fibrosis quística (FQ) y su posible implicación en la función pulmonar. Pacientes y métodos: Se incluyen el seguimiento de 19 pacientes con FQ (11 niñas, 8 niños) de 17 meses a 18 años de edad y promedio de 10 años de enfermedad. El genotipo de 16 pacientes es delta F 508 (10 homo, 6 heterocigotos). Cada 2-3 meses se les ha realizado: valoración clínica, dietética y antropométrica clasificando el estado de nutrición (EN) según Z pesto/talla, % peso para la talla, índice de masa corporal y Z talla/edad. Coincidentemente se obtuvo cultivo de secreciones respiratorias y espirometría; y anualmente determinaciones bioquímicas, hematológicas y de heces. La intervención nutricional incluyó: recomendaciones dietéticas, nutrición enteral (NE) oral o invasiva y tratamiento farmacológico con ezimas pancreáticos, vitaminas liposolubles, minerales y oligoelementos. Resultados y comentarios: La mayoría experimentaron mejoría antropométrica resultando significativa para el peso, relaciónpeso/talla y pliegue tricipital (p < 0,05). La puntuación Z se ha mantenido estable. Dieciséis pacientes (84%) han desarrollado insuficiencia pancreática exocrina y 3 (16%) intolerancia a la glucosa. Catorce (73%) se han colonizado por Pseudomonas aeuroginosa. Los valores promedio de la última espirometría fueron: FVC (%) 85,4 ± 18,6 y FEV1 (%) 85,9 ± 24,1 encontrándose unc orrelación positiva significativa entre el % del peso para la talla y FVC (coef 0,552, p = 0,022) y con FEV1 (coef. 0,625; p = 0,007). El 79% han requerido algún tipo de apoyo nutritional: 3 casos (16%) NE invasiva y el resto tratamiento con NE oral. Conclusiones: Sin soporte nutricional muchos pacientes con FQ no parecen cubrir su requerimientos. La monitorización del EN permite la actuación precoz y efectiva. Se demuestra una correlación estrecha entre el estado de nutrición y la función pulmonar.Objective: To assess the effects of early and continuous nutritional intervention in pediatric patients with cystic fibrosis (CF) and its possible implication in pulmonary function. Patients and methods: Included is the follow-up of 19 patients with CF (11 female and 8 male children), from 17 months to 18 years of age, and a mean disease duration of 10 years. Genotype from 16 patients is delta F 508 (10 homozygotic, 6 heterozygotic). The following items have been performed every 2-3 months: clinical, dietary and anthropometrical assessment, classifying nutritional status (NS) by Z scores of weight/height, % of weight to height, body mass index, and Z scores of height/age. Concurrently, respiratory secretions culture and spirometry were obtained; and annually, biochemistry, hematologic and feces determinations. Nutritional intervention included: dietary recommendations, oral or invasive enteral nutrition (EN) and pharmacologic treatment with pancreatic enzymes, fat-soluble vitamins, minerals and oligoelements. Results and commentaries: Most of them experienced anthropometrical improvement being significant for weight, the relationship of weight/height and the tricipital fold (p < 0.05). The Z score for height has remained steady. Sixteen patients (84%) have developed exocrine pancreatic failure, and 3 (16%) glucose intolerance. Fourteen (73%) have been colonized by Pseudomonas aeruginosa. Last mean spirometry values were: FVC (%) 85.4 ± 18.6 and FEV1 (%) 85.9 ± 24.1, with a significant correlation between % of weight to height and FVC (coefficient 0.552, p = 0.022) and FEV1 (coefficient 0.625, p = 0.007). Seventy nine percent have required some sort of nutritional support: 3 cases (16%) invasive EN, and the remaining oral EN. Conclusions: Without nutritional support, many patients with CF do not seem to meet their demands. EN monitoring allows for and early and effective intervention. A close correlation has been demonstrated between nutritional status and pulmonary function

Comparison of Physical Activity and Sedentary Behaviour between Schoolchildren with Cystic Fibrosis and Healthy Controls: A Gender Analysis

The purpose of this study was to examine differences in sports participation and the levels of physical activity (PA) and sedentary behaviour (SB) between schoolchildren with cystic fibrosis (CF) and a healthy control group (CG) taking into account the gender variable. PA and SB were measured with an accelerometer for 7 consecutive days in 44 children (24 girls; 11.0 (3.2) years) with CF and 45 age-, sex-, and socioeconomic status-matched controls (24 girls; 11.1 (3.0) years). CF patients and CG did not differ in moderate-to-vigorous PA (54 (31) vs. 59 (27) min/day respectively) or in SB (558 (106) vs. 553 (92) min/day respectively). There were no differences in meeting the PA guidelines between both groups (CF: 36.4% vs. CG: 42.4%). Gender analysis revealed that boys were more active and met more PA guidelines than girls regardless of the group (CF or CG), girls with CF being the least active group (only 16.7% met PA guidelines). A possible compensatory effect was found between SB and PA only in the CF sample, as for each minute/day spent in SB the odds of meeting PA guidelines decreased by 34%. These findings suggest that promoting a reduction in SB is as important as promoting PA in the CF population, especially in girls. Health caregivers, coaches, teachers, or parents could offer appealing supervised and unsupervised physical activities, foster the adoption of active lifestyles, or incorporate PA into daily routines to improve the health of CF schoolchildren

Seasons and Other Factors Affecting the Quality of Life of Asthmatic Children

[email protected]: To study the effect of seasons on the health-related quality of life (HRQL) of asthmatic children. Methods: Four groups of asthmatic children 7 to 14 years old were recruited by pediatricians during each season of the year. Their HRQL was assessed by means of the Paediatric Asthma Quality of Life Questionnaire (PAQLQ). Other factors surveyed were asthma severity, atopy, medical treatment, immunotherapy, obesity, parental smoking, and anti-allergic measures. Results: The mean (SD) overall PAQLQ score was highest in summer at 6.2 (1.0) and lowest in autumn at 5.5 (1.2). The same trend was found for domains in summer and autumn, respectively: symptoms, 6.2 (1.0) vs 5.4 (1.4); emotions, 6.5 (0.8) vs 6.0 (1.0); and activities, 5.9 (1.4) vs 5.0 (1.5). Factors such as male gender (odds ratio [OR], 0.60; 95% confi dence interval [CI], 0.41–0.87), being on immunotherapy (OR, 0.59; 95% CI, 0.38–0.92), living in an urban environment (OR, 0.56; 0.33–0.93), and residing on the northern coast of Spain along the Bay of Biscay (OR, 0.56; 0.36-0.89) were independent protective factors against having a total PAQLQ score in the lower tertile. Conversely, being recruited in a primary care setting (OR, 1.55; 1.01–2.38) and having more severe asthma were risks for being in the lower tertile. Conclusions: Irrespective of the severity of the disease, season has a significant influence on the HRQL of asthmatic [email protected]

Estudio del transporte mucociliar y de la ultraestructura ciliar nasales en pacientes con síndrome de Kartagener

Objetivo: El síndrome de Kartagener (SK) es una variante clínica de la discinesia ciliar primaria que asocia a las infecciones crónicas de las vías respiratorias un situs inversus. La ausencia de brazos de dineína ha sido el defecto ciliar asociado a este síndrome. El objeto de este trabajo es el estudio del transporte mucociliar y de la ultraestructura ciliar en 14 pacientes con SK. Pacientes y métodos: Hemos estudiado el transporte mucociliar nasal, mediante una técnica radioisotópica, y la ultraestructura ciliar en 14 pacientes con SK. Resultados: En 13 pacientes había estasis mucociliar y en uno, un transporte muy enlentecido (1,3 mm/min). Mostraban cilios con brazos de dineína normales 4 pacientes (29%); brazos internos de dineína cortos, 2 pacientes (14%), y ausencia completa de brazos internos y externos de dineína, 8 casos (57,1%). Conclusiones: Concluimos que la presentación clínica típica junto con un transporte mucociliar alterado, objetivado con una técnica isotópica, es diagnóstica del SK, aunque la ultraestructura ciliar sea normal. El SK es clínicamente homogéneo y morfológicamente heterogéneo

The use of spirometers and peak flow meters in the diagnosis and management of asthma among Spanish pediatricians. Results from the TRAP study

The objective of this study was to determine the level of adherence of pediatricians in Spain to the Spanish National Guidelines for Asthma Treatment with regard to the use of a peak flow meter (PEFR) or a spirometer in the diagnosis and management of asthma in childhood and to analyze sources of variations in these practices. A prospective survey (consisting of demographic and asthma knowledge sections) was conducted over a 2-wk time interval of 3000 pediatricians throughout the country. At least one part of the questionnaire was completed and returned by 2773 individuals (92.4%), with 2347 (78.2%) answering both sections; results are for this population. Around 62% of the pediatricians reported having a peak flow meter or a spirometer in their office; however, only 33% and 48% of them used the devices for the diagnosis and treatment of asthma, respectively. There was a significant association between being older (36-55 yr old) and using PEFR or spirometry for the diagnosis (OR: 1.35

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia

Introduction: Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. Methods: This was a multicenter cross-sectional study of patients with a high suspicion of PCD, according to European Respiratory Society criteria, designed around a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD. Results: We included 79 patients, 53 of whom had a diagnosis of confirmed or highly probable PCD. The sensitivity of the gene panel was 81.1%, with a specificity of 100%. Candidate variants were found in some of the genes of the panel in 43 patients with PCD, 51.2% (22/43) of whom were homozygotes and 48.8% (21/43) compound heterozygotes. The most common causative genes were DNAH5 and CCDC39. We found 52 different variants, 36 of which were not previously described in the literature. Conclusions: The design and implementation of a tailored gene panel produces a high yield in the genetic diagnosis of PCD. This panel provides a better understanding of the causative factors involved in these patients and lays down the groundwork for future therapeutic approaches