Unidad de Fibrosis Quística del Hospital Universitario Ramón y Cajal / Cystic fibrosis unit of the Hospital Universitario Ramón y Cajal

La Unidad de Fibrosis Quistica del Hospital Universitario Ramón y Cajal, centro de referencia de la Comunidad de Madrid, fue pionera en los años noventa, en la atención a los pacientes con esta patología grave, con una visión futurista, al centrarse en la atención multidisciplinar de un equipo (tanto del área pediátrica como de adultos), que acompaña al paciente desde la infancia a la edad adulta, lo que ha contribuido, de forma clave, a la mejora en la calidad y esperanza de vida de estos pacientes. A lo largo de los años, la Unidad ha ido creciendo en todos los aspectos y es, hoy, ejemplo para muchas otras patologías (AU)

The Cystic Fibrosis Unit of the University Hospital Ramón y Cajal, reference center of the Community of Madrid, was a pioneer in the 19903, in the care given to patients with this serious condition. It has had a futuristic view, on focusing on multidisciplinary care of a team (both in the pediatric and adult area), accompanying the patient from Childhood to the adult age. This has played a critical role to the improvement in the quality of life and life expectancy of these patients. Over these years, the Unit has been growing in all the aspects and is currently an example for many other conditions (AU)

Coexistencia de fibrosis quística y enfermedad de la orina con olor a jarabe de arce de presentación neonatal / Concurrent neonatal presentation of cystic fibrosis and maple syrup urine disease

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Ventilación mecánica domiciliaria en niños: estudio multicéntrico español / Domiciliary mechanical ventilation in children: a spanish multicentre study

Introducción: La ventilación mecánica domiciliaria (VMD) es una técnica cada vez más frecuente en el niño. Existen pocos estudios que hayan analizado las características y necesidades de los niños sometidos a esta técnica. Material y métodos: Estudio descriptivo observacional transversal multicéntrico de pacientes entre un mes y 16 años dependientes de ventilación mecánica domiciliaria. Resultados: Se estudiaron 163 pacientes de 17 hospitales españoles con una edad media de 7,6 años. La causa más frecuente de VMD fueron los trastornos neuromusculares. El inicio de la VMD fue a una edad media de 4,6 años. Un 71,3% recibieron ventilación no invasiva. Los pacientes con ventilación invasiva tenían menor edad, menor edad de inicio de la VMD y mayor tiempo de uso diario. El 80,9% precisaban VM solo durante el sueño, y un 11,7% durante todo el día. Únicamente un 3,4% de los pacientes tiene asistencia sanitaria externa como ayuda a la familia. Un 48,2% es controlado en consultas específicas de VMD o consultas multidisciplinares. Un 72,1% de los pacientes está escolarizado (recibiendo enseñanza adaptada un 42,3%). Solo un 47,8% de los pacientes escolarizados cuentan con cuidadores específicos en su centro escolar. Conclusiones: La VMD en niños se utiliza en un grupo muy heterogéneo de pacientes iniciándose en un importante porcentaje en los primeros 3 años de vida. A pesar de que un significativo porcentaje de pacientes tiene una gran dependencia de la VMD pocas familias cuentan con ayudas específicas tanto a nivel escolar como en el domicilio, y el seguimiento sanitario es heterogéneo y poco coordinado(AU)

Introduction: Domiciliary mechanical ventilation (DMV) use is increasing in children. Few studies have analysed the characteristics of patients using this technique. Materials and methods: An observational, descriptive, transversal, multicentre study was conducted on patients between 1 month and 16 years of age dependent on domiciliary mechanical ventilation. Results: A total of 163 patients with a median age of 7.6 years from 17 Spanish hospitals were studied. The main reasons for DMV were neuromuscular disorders. The median age at beginning of DMV was 4.6 years. Almost three-quarters (71.3%) received non-invasive ventilation. Patients depending on invasive ventilation were younger, started DMV at an earlier age, and had more hours of mechanical ventilation per day. The large majority (80.9%) used DMV during sleep time only, and 11.7% during the whole day. Only 3.4% of patients had external health assistance. Just under half (48.2%) were being followed up in specific DMV or multidisciplinary clinics. Almost three-quarters (72.1%) of patients attended school (42.3% with adapted schooling). Only 47.8% of school patients had specific caregivers in their schools. Conclusions: DMV in children is used in a very heterogeneous group of patients, and in an important number of patients it is started before the third year of life. Despite there being a significant proportion of patients with a high dependency on DMV, few families receive specific support at home or at school, and health care surveillance is variable and poorly coordinated(AU)

[Domiciliary mechanical ventilation in children: a Spanish multicentre study]. / Ventilación mecánica domiciliaria en niños: estudio multicéntrico español.

INTRODUCTION: Domiciliary mechanical ventilation (DMV) use is increasing in children. Few studies have analysed the characteristics of patients using this technique. MATERIALS AND METHODS: An observational, descriptive, transversal, multicentre study was conducted on patients between 1 month and 16 years of age dependent on domiciliary mechanical ventilation. RESULTS: A total of 163 patients with a median age of 7.6 years from 17 Spanish hospitals were studied. The main reasons for DMV were neuromuscular disorders. The median age at beginning of DMV was 4.6 years. Almost three-quarters (71.3%) received non-invasive ventilation. Patients depending on invasive ventilation were younger, started DMV at an earlier age, and had more hours of mechanical ventilation per day. The large majority (80.9%) used DMV during sleep time only, and 11.7% during the whole day. Only 3.4% of patients had external health assistance. Just under half (48.2%) were being followed up in specific DMV or multidisciplinary clinics. Almost three-quarters (72.1%) of patients attended school (42.3% with adapted schooling). Only 47.8% of school patients had specific caregivers in their schools. CONCLUSIONS: DMV in children is used in a very heterogeneous group of patients, and in an important number of patients it is started before the third year of life. Despite there being a significant proportion of patients with a high dependency on DMV, few families receive specific support at home or at school, and health care surveillance is variable and poorly coordinated.

Alteraciones hidrocarbonadas en pacientes impúberes con fibrosis quística / Abnormal glucose tolerance in prepubertal patients with cystic fibrosis

Introducción: El consenso internacional recomienda el cribado de las alteraciones hidrocarbonadas (AH) en fibrosis quística (FQ) mediante sobrecarga oral de glucosa (SOG) anual desde los 10 años de edad y/o iniciada la pubertad. Objetivos: Evaluar la presencia de AH y su posible repercusión clínica (cambios nutricionales y de función pulmonar) en pacientes impúberes con FQ. Pacientes y métodos: Estudio retrospectivo en 19 pacientes impúberes con FQ (68% varones). Según la SOG, clasificamos (Consenso 2010): tolerancia normal glucosa (TNG) o AH (alteración tolerancia glucosa [ATG], alteración indeterminada glucosa (AIG), diabetes [DRFQ]). Analizamos: SOG (glucemia e insulinemia), estado nutricional (IMC), función pulmonar (espirometría forzada) y función pancreática exocrina. Estudio estadístico con programa SPSS, versión-15.0 mediante pruebas no paramétricas. Resultados: Edad media primera SOG: 8,5 años (5,8-9,8); seguimiento medio: 2 años (2-3). Al inicio: el 53% TNG y el 47% AH; evolutivamente: 4/10 pacientes con TNG desarrollan AH (3ATG, 1DRFQ), 3/4 AIG desarrollan 2ATG y 1DRFQ. Edad media aparición AH: 8,6 años (6,4-11,1). El 69% tuvo deterioro nutricional y/o de la función pulmonar el año previo al diagnóstico de AH. Dos pacientes con AH eran suficientes pancreáticos exocrinos. La insulinemia basal y el área bajo la curva de la SOG fueron comparables entre TNG y AH. El índice insulinogénico fue inferior en AH (p=0,006). Todos los pacientes tuvieron un pico de secreción de insulina retrasado. Conclusiones: La frecuente detección de AH en pacientes impúberes con FQ y su repercusión clínica plantean la necesidad de adelantar su cribado. La suficiencia pancreática exocrina no excluye el desarrollo de AH(AU)

Introduction: Annual screening for abnormal glucose tolerance (AGT) with oral glucose test should begin by age 10 years in cystic fibrosis (CF) patients (Consensus-2010). Aims: To examine the frequency of AGT and its outcome in prepubertal CF patients and the changes in glycemic and nutritional status and lung function over the preceding year. Patients and methods: Retrospective study of 19 prepubertal CF patients (68% males). All subjects underwent an oral glucose tolerance test (OGTT). Results were classified as: normal glucose tolerance (NGT) or AGT (impaired glucose tolerance [IGT], CF related diabetes [CFRD] or indeterminate glucose tolerance [INDET]). We analyzed: OGTT (glucose and insulin levels), nutritional status (BMI-SD) and lung function (forced spirometry). Statistical analysis was performed with SPSS program-version-15.0, non parametric tests. Results: Mean age at first OGGT: 8.5 years (5.8-9.8). Mean follow-up: 2 years (2-3). Initially, 47% patients had AGT and 53% NGT. In follow-up: 4/10 NGT patients developed AGT (3 IGT, 1 CFRD). Among initial AGT patients, of 4 INDET: 2 developed IGT, 1 CFRD. Mean age of AGT onset: 8.6 years (6.4-11.1). In 69% AGT patients a declining BMI-DS and/or lung function was found in the preceding year. In OGTTs performed, fasting and 2h AUC insulin levels were comparable between NGT and AGT; however, insulinogenic index was lower in AGT patients (p=.006). Insulin secretion was delayed in all patients. Conclusions: The high frequency of AGT in prepubertal CF patients and their negative clinical impact supports the usefulness of an earlier glycemic screening(AU)

[Abnormal glucose tolerance in prepubertal patients with cystic fibrosis]. / Alteraciones hidrocarbonadas en pacientes impúberes con fibrosis quística.

INTRODUCTION: Annual screening for abnormal glucose tolerance (AGT) with oral glucose test should begin by age 10 years in cystic fibrosis (CF) patients (Consensus-2010). AIMS: To examine the frequency of AGT and its outcome in prepubertal CF patients and the changes in glycemic and nutritional status and lung function over the preceding year. PATIENTS AND METHODS: Retrospective study of 19 prepubertal CF patients (68% males). All subjects underwent an oral glucose tolerance test (OGTT). Results were classified as: normal glucose tolerance (NGT) or AGT (impaired glucose tolerance [IGT], CF related diabetes [CFRD] or indeterminate glucose tolerance [INDET]). We analyzed: OGTT (glucose and insulin levels), nutritional status (BMI-SD) and lung function (forced spirometry). Statistical analysis was performed with SPSS program-version-15.0, non parametric tests. RESULTS: Mean age at first OGGT: 8.5 years (5.8-9.8). Mean follow-up: 2 years (2-3). Initially, 47% patients had AGT and 53% NGT. In follow-up: 4/10 NGT patients developed AGT (3 IGT, 1 CFRD). Among initial AGT patients, of 4 INDET: 2 developed IGT, 1 CFRD. Mean age of AGT onset: 8.6 years (6.4-11.1). In 69% AGT patients a declining BMI-DS and/or lung function was found in the preceding year. In OGTTs performed, fasting and 2h AUC insulin levels were comparable between NGT and AGT; however, insulinogenic index was lower in AGT patients (p=.006). Insulin secretion was delayed in all patients. CONCLUSIONS: The high frequency of AGT in prepubertal CF patients and their negative clinical impact supports the usefulness of an earlier glycemic screening.

Aerosolterapia en el niño / No disponible

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[Continuous glucose monitoring system in the screening of glucose disorders in cystic fibrosis]. / Monitorización continua de glucosa para cribado de alteraciones hidrocarbonadas en fibrosis quística.

BACKGROUND: Diabetes mellitus (DM) is an increasing complication of cystic fibrosis (CF). It is associated with enhance morbidity. Continuous glucose monitoring system (CGMS) could detect glucose disorders earlier than other screening tests usually used. AIMS: To compare oral glucose tolerance test (OGTT), HbA(1c) and CGMS in patients with CF and recent disorders of glucose homeostasis and to analyse changes in nutritional status and/or pulmonary function. PATIENTS AND METHODS: Thirteen patients with CF (11-22 years, 7 males) were studied using OGTT, HbA(1c) and CGMS. All of them had newly diagnosed glucose disturbances. They were not receiving steroid therapy or had an underlying illness. In all subjects we compared: HbA(1c) levels (%), fasting and 2-hours glucose OGTT (mg/dl) and glucose CGMS values (overall, fasting, 2-hours post mean-meals and excursions >140mg/dl at any time). Furthermore, body mass index, forced expiratory volume in the first second (%) and forced vital capacity (%) were evaluated in the previous year and at the time of the study. We also analysed exocrine pancreatic function and CF-mutation. RESULTS: Mean age at diagnosis of glucose disturbance was 16.4 years. All patients had insufficient exocrine pancreatic function and 11/13 presented DeltaF508 CF-mutation. Only one patient was diagnosed with DM using OGGT and 7/13 (53.8%) with CGMS. A total 77% of patients had poor nutritional status and/or pulmonary function at time of diagnosing the glucose disorder. Only 4 patients had abnormal HbA(1c) levels. CONCLUSIONS: CGMS allows a better detection of glucose disorders than OGTT. Glucose homeostasis abnormalities are associated with a decrease in nutritional status and/or pulmonary function. HbA(1c) does not aid in the early diagnose of glucose disorders.

Monitorización continua de glucosa para cribado de alteraciones hidrocarbonadas en fibrosis quística / Continuous glucose monitoring system in the screening of glucose disorders in cystic fibrosis

Introducción: las alteraciones hidrocarbonadas (AHC) en fibrosis quística (FQ) suelen ser asintomáticas pero conllevan gran morbilidad. Su diagnóstico precoz puede prevenir el deterioro del estado nutricional y de la función pulmonar (FP). Objetivos: comparar los resultados de la monitorización continua de glucosa (CGMS) con los de la sobrecarga oral de glucosa (SOG) en pacientes con FQ. Evaluar la utilidad de la hemoglobina glicosilada (HbA1c) para el diagnóstico precoz de AHC. Analizar los cambios del estado nutritivo y función pulmonar al diagnóstico de AHC. Pacientes y métodos: en 13 pacientes púberes (7 varones) con FQ y AHC, diagnosticada por SOG, implantamos CGMS. Analizamos: edad, sexo, mutación relacionada con FQ, insuficiencia pancreática exocrina, HbA1c (%), glucemia en ayunas y 2h tras SOG. En el CGMS valoramos: glucosa global, en ayunas y posprandial, y excursiones de glucosa >140mg/dl. Además, comparamos el estado nutricional (índice de masa corporal) y la FP (capacidad vital forzada y volumen espiratorio forzado en el primer segundo) en ese momento y en el año previo. Resultados: media de edad al diagnóstico de AHC de 16,4 años (11-22); 11 pacientes tenían mutación ΔF508. Todos tenían insuficiencia pancreática exocrina. Cumplían criterios de diabetes 1/13 con SOG y 7/13 (53,8%) con CGMS. Se evidenció una declinación del estado nutricional y/o de la FP en el 77%. Sólo 4 pacientes tenían HbA1c patológica. Conclusiones: el CGMS detecta mejor la diabetes relacionada con FQ que la SOG. La presencia de AHC tiende a relacionarse con un empeoramiento nutricional y/o de FP. La HbA1c no permite el diagnóstico precoz de AHC en FQ (AU)

Background: Diabetes mellitus (DM) is an increasing complication of cystic fibrosis (CF). It is associated with enhance morbidity. Continuous glucose monitoring system (CGMS) could detect glucose disorders earlier than other screening tests usually used. Aims: To compare oral glucose tolerance test (OGTT), HbA1c and CGMS in patients with CF and recent disorders of glucose homeostasis and to analyse changes in nutritional status and/or pulmonary function. Patients and methods: Thirteen patients with CF (11–22 years, 7 males) were studied using OGTT, HbA1c and CGMS. All of them had newly diagnosed glucose disturbances. They were not receiving steroid therapy or had an underlying illness. In all subjects we compared: HbA1c levels (%), fasting and 2-hours glucose OGTT (mg/dl) and glucose CGMS values (overall, fasting, 2-hours post mean-meals and excursions >140mg/dl at any time). Furthermore, body mass index, forced expiratory volume in the first second (%) and forced vital capacity (%) were evaluated in the previous year and at the time of the study. We also analysed exocrine pancreatic function and CF-mutation. Results: Mean age at diagnosis of glucose disturbance was 16.4 years. All patients had insufficient exocrine pancreatic function and 11/13 presented ΔF508 CF-mutation. Only one patient was diagnosed with DM using OGGT and 7/13 (53.8%) with CGMS. A total 77% of patients had poor nutritional status and/or pulmonary function at time of diagnosing the glucose disorder. Only 4 patients had abnormal HbA1c levels. Conclusions: CGMS allows a better detection of glucose disorders than OGTT. Glucose homeostasis abnormalities are associated with a decrease in nutritional status and/or pulmonary function. HbA1c does not aid in the early diagnose of glucose disorders (AU)

Antibioterapia inhalada en pacientes con fibrosis quística / Inhaled antibiotic treatment in patients with cystic fibrosis

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[Middle latency auditory evoked potentials in critical care children: preliminary study]. / Potenciales evocados auditivos de latencia media en el niño críticamente enfermo: estudio preliminar.

BACKGROUND: Middle latency auditory evoked potentials (MLAEP) reflect changes in electroencephalogram waves after an auditory signal and represent the earliest cortical response to acoustic stimulus. They are therefore used to measure variations in the level of consciousness. MLEAP have been used to measure the depth of anesthesia during surgical procedures, but experience in critical care patients is very limited. OBJECTIVE: To analyze the utility of MLAEP for monitoring the level of sedation in critically ill children. METHODS: Level of consciousness was monitored through MLAEP by placing special headphones and three sensors situated in the frontal and preauricular regions. Simultaneously, the level of sedation was measured using the COMFORT scale and the Bispectral Index (BIS) in distinct clinical situations. RESULTS: We studied six critically ill children in whom MLAEP helped us to evaluate the level of consciousness: light sedation, natural sleep, deep sedation, sedation in a paralyzed child, and brain death. MLAEP showed a good correlation with the COMFORT scale and BIS in light and deep sedation and were effective in the early detection of brain death in one patient. In the paralyzed patient, MLAEP was able to detect undersedation. In one patient, a pacemaker interfered with the MLAEP signal. CONCLUSIONS: MLAEP can be useful in evaluating the level of consciousness and sedation in critically ill children. Further studies with larger samples are required to analyze the limitations and reproducibility of this type of monitoring in children of different ages.

Potenciales evocados auditivos de latencia media en el niño críticamente enfermo: estudio preliminar / Middle latency auditory evoked potentials in critical care children: preliminary study

Antecedentes: Los potenciales evocados auditivos (PEA) recogen los cambios en las ondas auditivas cerebrales frente a un estímulo sonoro y estiman el grado de actividad eléctrica erebral. Los potenciales de latencia media o respuesta cortical temprana se correlacionan con las variaciones del estado de conciencia. Los PEA se han utilizado para valorar la hipnosis durante la cirugía, pero existe poca experiencia en el paciente crítico. Objetivo: Analizar la utilidad de la monitorización con PEA de latencia media en niños críticamente enfermos. Métodos: Se monitorizó el estado de conciencia mediante los PEA colocando unos auriculares de emisión de sonidos y 3 sensores en región frontal y preauricular. Simultáneamente se recogió la puntuación de la escala clínicas de sedación COMFORT y el Índice Biespectral (BIS), analizándose la puntuación de los PEA y su relación con los otros parámetros de sedación en niños en distintas situaciones clínicas. Resultados: Se estudiaron 6 niños críticamente enfermos en los que los PEA ayudaron a valorar el estado de conciencia: sedación superficial, sueño espontáneo, sedación profunda, sedación en el paciente relajado y muerte cerebral. Los PEA mostraron una buena correlación con las escalas clínicas y el BIS en los casos de sedación superficial y profunda, y diagnosticaron precozmente un paciente con muerte cerebral. En un paciente relajado los PEA permitieron detectar la infrasedación. En un caso se observó que el marcapasos cardíaco producía interferencias en la medición de los potenciales evocados. Conclusión: Los PEA pueden ser útiles en la valoración del estado de conciencia y sedación de los niños críticamente enfermos. Son necesarios estudios amplios que analicen su fiabilidad y limitaciones en las diferentes edades

Background: Middle latency auditory evoked potentials (MLAEP) reflect changes in electroencephalogram waves after an auditory signal and represent the earliest cortical response to acoustic stimulus. They are therefore used to measure variations in the level of consciousness. MLEAP have been used to measure the depth of anesthesia during surgical procedures, but experience in critical care patients is very limited. Objective: To analyze the utility of MLAEP for monitoring the level of sedation in critically ill children. Methods: Level of consciousness was monitored through MLAEP by placing special headphones and three sensors situated in the frontal and preauricular regions. Simultaneously, the level of sedation was measured using the COMFORT scale and the Bispectral Index (BIS) in distinct clinical situations. Results: We studied six critically ill children in whom MLAEP helped us to evaluate the level of consciousness: light sedation, natural sleep, deep sedation, sedation in a paralyzed child, and brain death. MLAEP showed a good correlation with the COMFORT scale and BIS in light and deep sedation and were effective in the early detection of brain death in one patient. In the paralyzed patient, MLAEP was able to detect undersedation. In one patient, a pacemaker interfered with the MLAEP signal. Conclusions: MLAEP can be useful in evaluating the level of consciousness and sedation in critically ill children. Further studies with larger samples are required to analyze the limitations and reproducibility of this type of monitoring in children of different ages

[Use of the Bispectral Index in monitoring critically-ill children]. / Aplicación del índice biespectral en la monitorización del niño enfermo crítico.

The Bispectral Index (BIS) is a single numeric value that indicates the depth of hypnosis by estimating the level of electrical activity in the brain through analysis of the frequency bands in the electroencephalogram. The BIS was primarily developed to monitor the level of hypnosis during surgery and has recently begun to be used in critically-ill patients. Currently, there is little experience of the BIS in critically-ill children. We present 6 cases that illustrate the utility of BIS monitoring in the PICU. We assessed sedation and analgesia during mechanical ventilation with and without neuromuscular block in two patients, and the effect of anesthetic agents during a surgical procedure in the PICU. The BIS was also useful in the continuous monitoring of the level of consciousness in a patient with encephalitis and in the early detection of brain death. Pacer-induced artefacts in the BIS value are also described. We conclude that BIS monitoring may be a useful, noninvasive method for assessing the level of hypnosis in critically-ill children.

Aplicación del índice biespectral en la monitorización del niño enfermo crítico / Use of the bispectral index in monitoring critically-ill children

El índice biespectral (BIS) es un número que evalúa el grado de hipnosis al estimar el nivel de actividad eléctrica cerebral mediante el análisis de las frecuencias de las ondas del electroencefalograma (EEG). Desarrollado fundamentalmente para controlar la hipnosis durante la cirugía, ha empezado a utilizarse en los pacientes críticos, aunque hay muy poca experiencia en niños. Presentamos 6 casos en que el BIS permitió ajustar la sedación de 2 pacientes que recibían analgésicos, con y sin relajación muscular, controlar la sedación durante una intervención quirúrgica realizada en la unidad de cuidados intensivos pediátricos (UCIP), monitorizar de manera continuada el estado de consciencia en una niña con encefalitis y detectar precozmente el estado de muerte encefálica. También observamos que el marcapasos cardíaco produce interferencias que pueden alterar el valor del BIS. Concluimos que el BIS es un método no invasivo que puede ser útil para la monitorización del estado de consciencia de los niños enfermos críticos

The Bispectral Index (BIS) is a single numeric value that indicates the depth of hypnosis by estimating the level of electrical activity in the brain through analysis of the frequency bands in the electroencephalogram. The BIS was primarily developed to monitor the level of hypnosis during surgery and has recently begun to be used in critically-ill patients. Currently, there is little experience of the BIS in critically-ill children. We present 6 cases that illustrate the utility of BIS monitoring in the PICU. We assessed sedation and analgesia during mechanical ventilation with and without neuromuscular block in two patients, and the effect of anesthetic agents during a surgical procedure in the PICU. The BIS was also useful in the continuous monitoring of the level of consciousness in a patient with encephalitis and in the early detection of brain death. Pacer-induced artefacts in the BIS value are also described. We conclude that BIS monitoring may be a useful, noninvasive method for assessing the level of hypnosis in critically-ill children