[Content validation for the Chilean population of the quality of life assessment instrument in children, adolescents and adults with Cystic Fibrosis: CFQ-R CYSTIC FIBROSIS QUESTIONNAIRE-REVISED version in Spanish, Chile]. / Validación de contenido del instrumento de evaluación de calidad de vida en niños, adolescentes y adultos con Fibrosis Quística: CFQ-R CYSTIC FIBROSIS QUESTIONNAIRE-REVISED versión en español, Chile.

INTRODUCTION: Cystic Fibrosis (CF) is the most frequent chronic hereditary disease in the white race. Although the impact on the quality of life of this disease is significant, there are no validated instruments in the Chilean population to measure it. OBJECTIVE: To carry out a cultural and linguistic adaptation and validate the content and reliability of the CFQ-R Cystic Fibrosis Questionnaire, Spanish version 2.0. PATIENTS AND METHOD: The process was carried out in two stages. The first stage consists of an ins trumental design to adapt it culturally and linguistically, evaluate content validity by consulting ex perts, and test the comprehension of the questionnaire in patients and parents through qualitative interviews and a focus group. In the second stage with an observational and cross-sectional design in a sample of 122 people with CF or their caregivers, the behavior of the questionnaire was analyzed using descriptive statistics and Cronbach's alpha for reliability. RESULTS: Stage 1: the instrument in its three versions is considered valid with Lynn's index > 0.8 and Validity Coefficient > 0.7. Stage 2: The adolescent/adult and parent/caregiver versions obtain Cronbach's a > 0.7 and an average > 3 in most dimensions. CONCLUSION: The questionnaire is adapted and validated in the Chilean population and requires minor modifications. This version is reliable, valid, and allows the assessment of the quality of life in people with CF. It is suggested to increase the sample for the analysis of construct validity with a larger number of patients.

Tratamiento del asma severo con omalizumab: experiencia pediátrica en Chile y revisión de la literatura / Omalizumab treatment on severe asthma patients: pediatric experience in Chile and literature review

This paper presents clinical experience with Omalizumab treatment in 8 pediatric patients in Chile. All children presented difficult to control asthma despite receiving high intensity treatment, with low quality of life. All patients were studied in order to discard errors in asthma diagnosis and to evaluate asthma treatment adherence and inhalation technique. After evaluation, patients proven to have severe therapy resistant asthma were indicated treatment with Omalizumab. Significant clinical improvement was observed, with reduced asthma symptoms and number of exacerbations, as well as an improved quality of life. Omalizumab showed a good safety profile with mild and transient adverse reactions in 6 administrations of a total of 122.

Se presenta la experiencia clínica con el uso de Omalizumab en 8 pacientes pediátricos en nuestro país. Todos los pacientes presentaban asma sin control a pesar de recibir terapia de alta intensidad, asociado a una muy deficiente calidad de vida. La totalidad de los pacientes fueron sometidos en cada centro a un estudio exhaustivo para poder descartar error en el diagnóstico y se evaluó la adherencia y la técnica inhalada. Al comprobarse que estos pacientes tenían asma severo resistente a tratamiento se indicó Omalizumab, el cual produjo una mejoría clínica significativa. Se observó una reducción de las exacerbaciones y de los síntomas de asma acompañado de una mejoría de la calidad de vida, asociado a un buen perfil de seguridad. Se observaron reacciones adversas leves y transitorias en 6 administraciones de un total de 122.

[Clinical and ultrastructural features of ciliary dyskinesia]. / Disquinesia ciliar: diagnóstico ultraestructural, evolución clínica y alternativas de tratamiento.

BACKGROUND: Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. AIM: To descube clinical and ultrastructural findings and clinical and therapeutic evolution of these patients. PATIENTS AND METHODS: Retrospective review of medical records and electron microscopy findings of 33 patients (aged 1 to 21 years, 14 females) with ultrastructural diagnosis of CD. To obtain follow up information, a telephone survey was done. RESULTS: In 30 patients (90%) the inner dynein arm (IDA) was absent in 50 or more percent of the cilia. Twenty two (66%) had absence of the outer dynein arm. Before diagnosis of CD, 19 patients (57%) presented recurrent otitis media, 25 patients (77%), three or more episodes of rhinosinusitis and 18 patients (56%) had recurrent pneumonia. Middle ear ventilation tubes were placed in 19 patients (57%), and during its use, 12 (68%) remained without othorrea. Sixteen patients (48%) with recurrent episodes of rhinosinusitis required adenoidectomy Seven (21%) required a functional endoscopic sinus surgery (FESS), and 6 (86%) improved after FESS. CONCLUSIONS: Our patients with CD presented recurrent infections in different airway locations. In those with a diagnosis of CD and recurrent otológica! and rhinosinusal infections, IDA was absent in a high percentage of cilia. FESS and the use of ventilation tubes may have a beneficial role in a subgroup of patients with CD.

Disquinesia ciliar: diagnóstico ultraestructural, evolución clínica y alternativas de tratamiento / Clinical and ultrastructural features of ciliary dyskinesia

Background: Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. Aim: To descube clinical and ultrastructural findings and clinical and therapeutic evolution of these patients. Patients and Methods: Retrospective review of medical records and electron microscopy findings of 33 patients (aged 1 to 21 years, 14 females) with ultrastructural diagnosis of CD. To obtain follow up information, a telephone survey was done. Results: In 30 patients (90 percent) the inner dynein arm (IDA) was absent in 50 or more percent of the cilia. Twenty two (66 percent) had absence of the outer dynein arm. Before diagnosis of CD, 19 patients (57 percent) presented recurrent otitis media, 25 patients (77 percent), three or more episodes of rhinosinusitis and 18 patients (56 percent) had recurrent pneumonia. Middle ear ventilation tubes were placed in 19 patients (57 percent), and during its use, 12 (68 percent) remained without othorrea. Sixteen patients (48 percent) with recurrent episodes of rhinosinusitis required adenoidectomy Seven (21 percent) required a functional endoscopic sinus surgery (FESS), and 6 (86 percent) improved after FESS. Conclusions: Our patients with CD presented recurrent infections in different airway locations. In those with a diagnosis of CD and recurrent otol¢gica! and rhinosinusal infections, IDA was absent in a high percentage of cilia. FESS and the use of ventilation tubes may have a beneficial role in a subgroup of patients with CD.

Utilidad de la espirometría en preescolares de 4 y 5 años / Utility of spirometry in 4 to 5 -years old preschool patients

Background; Spirometry is the most frequently used pulmonary function test. Previous studies have demonstrated the feasibility of carrying out spirometry in preschool patients. Aim: To describe spirometric values obtained in preschool patients studied in a pediatric pulmonary function laboratory. Patients and methods: We reviewed the spirometries performed -from 1996 to 2004- in 180 preschool patients (4- to 6- years old). Records of volume/time and flow/volume curves of spirometries were obtained with a Schiller SP100 spirometer. Variability of baseline measurements of forced vital capacity (CVF) and forced expiratory volume in one second (FEV1) was analyzed. Results: The average age of the 180 school patients was 5.4 (SD:+/- 0.39) years and 53 percent were male. Either diagnosis or suspicious of asthma was the indication for performing spirometry in 172 (90 percent) of these children. One, two and three acceptable spirometric maneuvers were registered in 18 (10 percent), 99 (55 percent) and 63 (35 percent) patients respectively. Expiratory time was < 3 s in 24.4 percent (n=43), 3 to 6 s in 66 percent (n=116), and > 6 s in 9.6 percent (n=17) of patients. Expiratory time was larger in children >5- compared to <5- years old (4.1 +/- 1.3 s versus 3.1 +/- 0.49 s; p < 0.018). VEF1 variability in 162 children having 2 or 3 acceptable maneuvers was < 0.1 L in 67 percent, < 5 percent in 50 percent and < 10 percent in 80 percent. Spirometry was normal in 80.5 percent, obstructive in 19 percent and restrictive in one patient. Conclusions:We confirmed that most of the preschool patients are able to perform an adequate spirometric test in terms of acceptability and reproducibility. We suggest to study a normal population of preshool children in order to have normal local data available.

Introducción: La espirometría es el método más utilizado para evaluar la función pulmonar. Estudios previos han demostrado la factibilidad de realizar estas pruebas en la edad pre-escolar. Objetivos: Describir los valores espirométricos obtenidos en preescolares derivados al laboratorio de función pulmonar. Material y Métodos: Se analizaron en forma retrospectiva las curvas de volumen/tiempo, flujo/volumen, tiempo espiratorio, CVF y VEF1, de las espirometrías realizadas entre 1996-2004 en 180 preescolares. Se utilizó un espirómetro Schiller SP100. Se analizó el coeficiente de variación para CVF y VEF1. Resultados: Se realizaron espirometrías en 180 menores de 6 años, con edad promedio de 5,4 +/ - 0,39 años, 53 por ciento hombres. La principal indicación de la espirometría fue asma 172/180 (90 por ciento). 10 por ciento de los pacientes realizaron 1 maniobra aceptable, 55 por ciento 2 maniobras y 35 por ciento 3 maniobras reproducibles y aceptables. Considerando el tiempo espiratorio, hubo 43 curvas de < 3 s (24,4 por ciento), 116 de 3 a 6 s (66 por ciento) y 17 sobre 6 s (9,6 por ciento). Comparando los grupos menores y mayores de 5 años, se encontró una diferencia significativa solo en el tiempo espiratorio: 3,1 +/ - 0,49 s en el primer grupo y 4,1 +/ - 0,13 en el segundo (p < 0,018). Al evaluar variabilidad de VEF1 en 162 pacientes que realizaron 2 ó 3 maniobras aceptables se encontró que un 67 por ciento mostraba variabilidad <0,1 L, 50 por ciento < 5 por ciento y 80 por ciento < 10 por ciento. Las espirometrías fueron normales en 145 (80,5 por ciento) preescolares, con alteración obstructiva en 34 (19 por ciento) y con alteración restrictiva en uno (0,5 por ciento). Conclusiones: La mayoría de los preescolares cumplieron con los criterios de aceptabilidad y reproducibilidad. Se sugiere realizar valores normales en población preescolar sana de nuestro país, con el objeto de poder comparar los datos de pacientes con sospecha de patología respiratoria.