Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD).

BACKGROUND: Quality of life (QOL)-primary ciliary dyskinesia (PCD) is the first disease-specific, health-related QOL instrument for PCD. Psychometric validation of QOL-PCD assesses the performance of this measure in adults, including its reliability, validity and responsiveness to change. METHODS: Seventy-two adults (mean (range) age: 33 years (18-79 years); mean (range) FEV1% predicted: 68 (26-115)) with PCD completed the 49-item QOL-PCD and generic QOL measures: Short-Form 36 Health Survey, Sino-Nasal Outcome Test 20 (SNOT-20) and St George Respiratory Questionnaire (SGRQ)-C. Thirty-five participants repeated QOL-PCD 10-14 days later to measure stability or reproducibility of the measure. RESULTS: Multitrait analysis was used to evaluate how the items loaded on 10 hypothesised scales: physical, emotional, role and social functioning, treatment burden, vitality, health perceptions, upper respiratory symptoms, lower respiratory symptoms and ears and hearing symptoms. This analysis of item-to-total correlations led to 9 items being dropped; the validated measure now comprises 40 items. Each scale had excellent internal consistency (Cronbach's α: 0.74 to 0.94). Two-week test-retest demonstrated stability for all scales (intraclass coefficients 0.73 to 0.96). Significant correlations were obtained between QOL-PCD scores and age and FEV1. Strong relationships were also found between QOL-PCD scales and similar constructs on generic questionnaires, for example, lower respiratory symptoms and SGRQ-C (r=0.72, p<0.001), while weak correlations were found between measures of different constructs. CONCLUSIONS: QOL-PCD has demonstrated good internal consistency, test-retest reliability, convergent and divergent validity. QOL-PCD offers a promising tool for evaluating new therapies and for measuring symptoms, functioning and QOL during routine care.

Comparison of conventional pulmonary rehabilitation and high-frequency chest wall oscillation in primary ciliary dyskinesia.

BACKGROUND: Enhancement of mucociliary clearance by pulmonary rehabilitation (PR) is advocated in primary ciliary dyskinesia (PCD). Our primary aim was to compare the efficacy and safety of postural drainage, percussion and vibration [conventional PR (CPR)], and high frequency chest wall oscillation (HFCWO) by studying change in pulmonary function. Our secondary aim was to evaluate patient preferences regarding the two methods. METHODS: This was a controlled randomized crossover study. PCD patients between the ages of 7 and 18 years were assigned to two groups, first group performed airway clearance with CPR at hospital for 5 days and after a 2-day washout period HFCWO was applied to the same group at home. HFCWO was applied first to the other group and then these patients were hospitalized for CPR. The primary outcome measure of the study was pulmonary function test (PFT). The secondary outcomes were pulse arterial oxygen saturation (SpO2 ) and the perceived efficiency and comfort level. RESULTS: PFT values of patients increased significantly after both PR methods (before/after): CPR: FVC: 77.0 ± 14.1/81.8 ± 13.0 (P = 0.002); FEV1 : 72.9 ± 14.8/78.7 ± 13.5 (P = 0.001); PEF: 73.8 ± 14.5/82.5 ± 14.5 (P = 0.001); FEF25-75 : 68.6 ± 27.6/74.9 ± 29.3 (P = 0.007). HFCWO FVC: 75.1 ± 15.3/80.3 ± 13.9 (P = 0.002); FEV1 : 71.4 ± 16/77.4 ± 14.6 (P = 0.001); PEF: 70.9 ± 18.0/78.3 ± 17.7 (P = 0.002); FEF25-75 : 70.5 ± 23.4/76.4 ± 25.6 (P = 0.006). There were no significant differences in % predicted FVC, FEV1 , PEF, and FEF25-75 increased values with CPR and HFCWO. HFCWO was found more comfortable (P = 0.04). Two PR methods were found efficient and no desaturation occurred during PR. CONCLUSIONS: PFTs were significantly increased after both PR methods. There were no differences in PFTs and SpO2 between the CPR and HFCWO groups. Both PR methods were found efficient. HFCWO was found more comfortable. HFCWO may be an option in patients with chronic pulmonary disease and low adherence to PR.

Situs inversus total: asociación de síndrome de Kartagener con bronquiolitis difusa y azoospermia / Situs Inversus Totalis: The Association of Kartagener’s Syndrome With Diffuse Bronchiolitis and Azoospermia

El síndrome de Kartagener (SK) se caracteriza por bronquiectasias, sinusitis paranasal y situs inversus total (SIT). La asociación de la bronquiolitis difusa (BD) con el SK se ha documentado únicamente en Japón. En una unidad se identificaron 14 pacientes con SIT durante un periodo de 7 años. Todos los pacientes fueron objeto de un estudio diagnóstico similar que incluyó una tomografía computarizada (TC) de alta resolución (TCAR) del tórax y TC de senos paranasales. Se realizó un análisis de semen en 2/3 de los varones adultos. Once pacientes (6 varones y 5 mujeres) tenían un SK, mientras que en 3 mujeres adultas había tan solo un SIT. La TCAR de tórax detectó bronquiectasias en 10/11 pacientes con SK. La TCAR de tórax confirmó la BD en 6/11 pacientes con SK. Un varón adulto presentó un recuento espermático total de 2,5millones/ml, sin motilidad espermática, mientras que en los otros no hubo espermatozoides. Esta serie documenta el mayor número de pacientes con SIT/SK descrito en la India y resalta por primera vez la asociación de BD con SK en este país(AU)

Kartagener's syndrome (KS) is characterised by bronchiectasis, paranasal sinusitis and situs inversus totalis (SIT). Association of diffuse bronchiolitis (DB) with KS has been documented from Japan only. Fourteen patients with SIT were seen in one unit over 7 years. All patients underwent a similar work up which included high resolution computed-tomography (HRCT) of thorax and CT-paranasal sinuses. Semen analysis was done in 2/3 adult males. Eleven patients (6 males and 5 females) had KS while 3 adult females had SIT alone. HRCT-thorax detected bronchiectasis in 10/11 patients with KS. HRCT-thorax confirmed DB in 6/11 patients with KS. One adult male had total sperm count of 2.5million/ml without sperm motility while the other had no sperms. This series documents the largest number of patients with SIT/KS from India and highlights for the first time, the association of DB with KS from India(AU)

Early diagnosis of primary ciliary dyskinesia in a newborn without situs inversus.

UNLABELLED: Primary ciliary dyskinesia has been reported as a rare cause of respiratory distress during the neonatal period. This diagnosis is readily suspected in cases presenting with accompanying situs inversus. The aim of this study was to report on a pair of siblings with primary ciliary dyskinesia. The first case was an infant diagnosed with primary ciliary dyskinesia at the age of 14 d despite lack of situs inversus. The infant had presented with respiratory distress and atelectasis almost immediately after birth. The sibling, born one year later, presented with situs inversus, therefore allowing diagnosis of primary ciliary dyskinesia to be made immediately after birth. CONCLUSIONS: Diagnosis of primary ciliary dyskinesia should be considered in newborns presenting with respiratory distress or atelectasis. Early institution of an adequate treatment programme and follow-up may reduce or prevent further complications of the disease.