Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress

Neonatal respiratory distress (NRD) is common among infants with primary ciliary dyskinesia (PCD), but we do not know whether affected neonates receive a timely diagnosis. We used data from the international PCD cohort and assessed the proportion of patients with PCD who had a history of NRD and their age at diagnosis, stratifying by presence of laterality defects. First we analyzed data from all participants diagnosed after 2000, followed by individuals from a subgroup diagnosed using stricter criteria. Among the 1375 patients in the study, 45% had a history of NRD and 42% had laterality defects. Out of the 476 children with definite PCD diagnosis, 55% had a history of NRD and 50% had laterality defects. Overall, 30% of children with PCD were diagnosed during the first 12 months of life. This varied from 13% in those with situs solitus and no NRD, to 21% in those with situs solitus and NRD, 33% in those with situs anomalies but no NRD, and 52% in those with both situs anomalies and NRD. Our results suggest that we need to improve our knowledge of the neonatal presentation of infants with PCD and apply it so that these patients will receive appropriate care sooner

Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study

Background Lung resection is a controversial and understudied therapeutic modality in Primary Ciliary Dyskinesia (PCD). We assessed the prevalence of lung resection in PCD across countries and compared disease course in lobectomised and non-lobectomised patients. Methods In the international iPCD cohort, we identified lobectomised and non-lobectomised age and sex-matched PCD patients and compared their characteristics, lung function and BMI cross-sectionally and longitudinally. Results Among 2896 patients in the iPCD cohort, 163 from 20 centers (15 countries) underwent lung resection (5.6%). Among adult patients, prevalence of lung resection was 8.9%, demonstrating wide variation among countries. Compared to the rest of the iPCD cohort, lobectomised patients were more often females, older at diagnosis, and more often had situs solitus. In about half of the cases (45.6%) lung resection was performed before presentation to specialized PCD centers for diagnostic work-up. Compared to controls (n = 197), lobectomised patients had lower FVC z-scores (- 2.41 vs - 1.35, p = 0.0001) and FEV1 z-scores (- 2.79 vs - 1.99, p = 0.003) at their first post-lung resection assessment. After surgery, lung function continued to decline at a faster rate in lobectomised patients compared to controls (FVC z-score slope: - 0.037/year Vs - 0.009/year, p = 0.047 and FEV1 z-score slope: - 0.052/year Vs - 0.033/year, p = 0.235), although difference did not reach statistical significance for FEV1. Within cases, females and patients with multiple lobe resections had lower lung function. Conclusions Prevalence of lung resection in PCD varies widely between countries, is often performed before PCD diagnosis and overall is more frequent in patients with delayed diagnosis. After lung resection, compared to controls most lobectomised patients have poorer and continuing decline of lung function despite lung resection. Further studies benefiting from prospective data collection are needed to confirm these findings

Flexible bronchoscopy as a valuable tool in the evaluation of persistent wheezing in children

Background: Persistent wheezing is a common problem in early childhood and leads to a diagnostic dilemma, excessive investigations, drug administration and additional cost. Objective: To determine the efficacy and the safety of FOB in children with persistent wheezing despite bronchodilator and inhaled steroid therapy. Methods: Patients with persistent wheezing that lasted at least 6 weeks and did not respond to bronchodilator and inhaled steroid therapy and to whom flexible bronchoscopy was performed were included to the study. Results: Between 1997 and 2009; 113 patients were enrolled to the study. Sixty-three percent of the children were male. Median age was 14 months at presentation and median duration of symptoms was 5 months. Bronchoscopy revealed pathological findings in 48% of the patients. Thirty-eight patients had malacia disorders, 14 had foreign body aspiration and two had external compression of airways which were later diagnosed as vascular ring. Major and minor complications were not seen in 92% of the patients while transient hypoxia was seen in 6%, stridor in 1% and tachycardia in 1% of the patients. Conclusion: Flexible bronchoscopy provided rapid and definitive diagnosis for our patients with persistent wheezing without any major complications. This study is one of the largest studies concerning persistent wheezing. Early bronchoscopic evaluation can reduce cost by providing rapid and accurate diagnosis and preventing unnecessary investigations and drug administration. Flexible bronchoscopy is a safe procedure and should be considered in the evaluation of children with persistent wheezing. (C) 2009 Elsevier Ireland Ltd. All rights reserved

Efficacy of salbutamol and ipratropium bromide in the management of acute bronchiolitis - A clinical trial

Background: A wide range of drugs are commonly used to treat bronchiolitis, but evidence of their effectiveness is limited. Objectives: To investigate the efficacy of ipratropium bromide and salbutamol in the treatment of patients with moderate-severe bronchiolitis. Methods: Sixty-nine infants with moderate- severe bronchiolitis hospitalized at their first episode of wheezing or crepitations in the chest were enrolled in a prospective, double-blind, placebo-controlled trial. Patients were randomly assigned to receive nebulized salbutamol, ipratropium bromide or placebo. Main outcome measures were changes in oxygen saturation rates and clinical scores and duration of hospitalization. Results: In the bronchodilator groups, clinical scores were better compared to the placebo group at 30 min ( 8.4 +/- 1.3 vs. 7.5 +/- 0.8, p < 0.05). Bronchodilator groups had also significantly lower clinical scores (7.3 +/- 1.2 vs. 5.9 +/- 1.1, p < 0.0001, and 5.3 +/- 1.4 vs. 4.5 +/- 1.6, p = 0.006, respectively) and higher oxygen saturation rates compared to the placebo group at 8 and 24 h ( 89.6 +/- 2.4 vs. 94.3 +/- 4.4, and 92.2 +/- 2.6 vs. 95.9 +/- 4.4, respectively, p < 0.0001). Improvement rates and duration of hospitalization were not statistically different among groups. Conclusions: Clinical scores and oxygen saturation levels improved more rapidly in the bronchodilator groups than in the placebo group up to 24 h, but these drugs did not have a sufficient effect to change the natural course of the disease. Copyright (C) 2007 S. Karger AG, Basel

Management of primary ciliary dyskinesia in European children: recommendations and clinical practice

The European Respiratory Society Task Force on primary ciliary dyskinesia (PCD) in children recently published recommendations for diagnosis and management. This paper compares these recommendations with current clinical practice in Europe. Questionnaires were returned by 194 paediatric respiratory centres caring for PCD patients in 26 countries. In most countries, PCD care was not centralised, with a median (interquartile range) of 4 (2-9) patients treated per centre. Overall, 90% of centres had access to nasal or bronchial mucosa! biopsy. Samples were analysed by electron microscopy (77%) and ciliary function tests (57%). Nasal nitric oxide was used for screening in 46% of centres and saccharine tests in 36%. Treatment approaches varied widely, both within and between countries. European region, size of centre and the country's general government expenditure on health partly defined availability of advanced diagnostic tests and choice of treatments. In conclusion, we found substantial heterogeneity in management of PCD within and between countries, and poor concordance with current recommendations. This demonstrates how essential it is to standardise management and decrease inequality between countries. Our results also demonstrate the urgent need for research: to simplify PCD diagnosis, to understand the natural history and to test the effectiveness of interventions

Severe Paediatric Asthma Collaborative in Europe (SPACE): protocol for a European registry

The development of new asthma biologics and receptor blockers for the treatment of paediatric severe asthma raises challenges. It is unclear whether there are sufficient children in Europe to recruit into randomised placebo-controlled trials to establish efficacy and safety in this age group. In February 2016, the European Respiratory Society funded a clinical research collaboration entitled Severe Paediatric Asthma Collaborative in Europe (SPACE). We now report the SPACE protocol for a prospective pan-European observational study of paediatric severe asthma. Inclusion criteria are: 1) age 6-17 years, 2) severe asthma managed at a specialised centre for >= 6 months, 3) clinical and spirometry evidence of asthma, and 4) reaching a pre-defined treatment threshold. The exclusion criterion is the presence of conditions which mimic asthma symptoms. Eligible children will be prospectively recruited into a registry, recording demographics, comorbidities, quality of life, family history, neonatal history, smoking history, asthma background, investigations, and treatment. Follow-up will provide longitudinal data on asthma control and treatment changes. The SPACE registry, by identifying well-phenotyped children eligible for clinical trials, and the amount of overlap in eligibility criteria, will inform the design of European trials in paediatric severe asthma, and facilitate observational research where data from single centres are limited

Mucoid impaction: An unusual form of allergic bronchopulmonary aspergillosis in a patient with cystic fibrosis

We reported a child with cystic fibrosis (CF) who developed mucoid impaction related to allergic bronchopulmonary aspergillosis (ABPA). This is the first reported case of mucoid impaction related to ABPA in CF described to date in the literature. The case was successfully treated by corticosteroids and itraconazole therapy, but relapsed 6 months later. During exacerbation therapy, cataract formation complicated the corticosteroid treatment. We want to emphasize that 6-months therapy may be inadequate for the treatment of ABPA, and it is important to monitor for possible complications of corticosteroids therapy

European Respiratory Society guidelines for the management of children and adolescents with bronchiectasis

There is increasing awareness of bronchiectasis in children and adolescents, a chronic pulmonary disorder associated with poor quality of life for the child/adolescent and their parents, recurrent exacerbations, and costs to the family and health systems. Optimal treatment improves clinical outcomes. Several national guidelines exist, but there are no international guidelines. The European Respiratory Society (ERS) Task Force for the management of paediatric bronchiectasis sought to identify evidence-based management (investigation and treatment) strategies. It used the ERS standardised methodology that included a systematic review of the literature and application of the GRADE (Grading of Recommendations Assessment, Development and Evaluation) approach to define the quality of the evidence and level of recommendations. A multidisciplinary team of specialists in paediatric and adult respiratory medicine, infectious disease, physiotherapy, primary care, nursing, radiology, immunology, methodology, patient advocacy and parents of children/adolescents with bronchiectasis considered the most relevant clinical questions (for both clinicians and patients) related to managing paediatric bronchiectasis. 14 key clinical questions (seven PICO (Patient, Intervention, Comparison, Outcome) and seven narrative) were generated. The outcomes for each PICO were decided by voting by the panel and parent/patient advisory group. This guideline addresses the definition, diagnostic approach and antibiotic treatment of exacerbations, pathogen eradication, long-term antibiotic therapy, asthma-type therapies (inhaled corticosteroids and bronchodilators), mucoactive drugs, airway clearance, investigation of underlying causes of bronchiectasis, disease monitoring, factors to consider before surgical treatment, and the reversibility and prevention of bronchiectasis in children/adolescents. Benchmarking quality of care for children/adolescents with bronchiectasis to improve clinical outcomes and evidence gaps for future research could be based on these recommendations