A Novel Variant in Pulmonary Alveolar Microlithiasis With Disseminated Pseudomonas Infection.

With growing reports of severe presentations in children, increasing our genetic understanding of pulmonary alveolar microlithiasis (PAM) is crucial. We describe a 6-month-old infant presenting with bronchiolitis, with deterioration due to disseminated Pseudomonas infection, with novel homozygosity of a variant in SLC34A2, and with pulmonary calcospherites on postmortem analysis, in keeping with PAM.

Does using the Lung Clearance Index (LCI) inform clinical decisions in children with cystic fibrosis?

Introduction: The Lung Clearance Index (LCI) is an established research test, but its role in clinical decision-making is not well defined. This study estimated the proportion of treatment decisions that are changed or supported by the added information provided by LCI.

Methods: A mixed methods prospective observational study was conducted in North America.

Advances in Pediatric Lung Function Testing Techniques.

For decades spirometry has been the benchmark test for capturing lung function in children but its recognized limitations required the development of other techniques. This article introduces novel techniques in lung function assessment for pediatric patients, including multiple breath washout, impulse oscillometry, structured light plethysmography, and electrical impedance tomography, and common themes in interpreting the results. Challenges include standardization, reference data, and clinical integration of these innovative tools.

Long-term outcomes of pulmonary embolism in children and adolescents.

Knowledge regarding the long-term consequences of pulmonary embolism (PE) in children is limited. This cohort study describes the long-term outcomes of PE in children who were followed-up at a single-center institution using a local protocol that included clinical evaluation, chest imaging, echocardiography, pulmonary function tests, and cardiopulmonary exercise tests at follow-up, starting 3 to 6 months after acute PE. Children objectively diagnosed with PE at age 0 to 18 years, who had ≥6 months of follow-up were included.

Outpatient management of pulmonary exacerbations in children with cystic fibrosis.

Introduction: Pulmonary exacerbations are common events in children with cystic fibrosis (CF) and are usually treated with oral antibiotics on an outpatient basis. Even these mild clinical events are clinically meaningful and contribute to the progression of lung disease.

Areas Covered: This review discusses the challenges in diagnosing pulmonary exacerbations in children in the absence of a standardized definition.

Evaluation of clinically relevant changes in the lung clearance index in children with cystic fibrosis and healthy controls.

Background: The limits of reproducibility of the lung clearance index (LCI) are higher in children with cystic fibrosis (CF) compared with healthy children, and it is currently unclear what defines a clinically meaningful change.

Methods: In a prospective multisite observational study of children with CF and healthy controls (HCs), we measured LCI, FEV% predicted and symptom scores at quarterly visits over 2 years. Two reviewers performed a detailed review of visits to evaluate the frequency that between visit LCI changes outside ±10%, ±15%, ±20% represented a clinically relevant signal.

Development and Validation of an Algorithm for Quality Grading of Pediatric Spirometry: A Quality Improvement Initiative.

Current spirometry quality grading for individuals 7 years and older include within-test repeatability thresholds up to 250 ml, which may be inappropriately wide for children. ) To develop, internally validate, and implement a quality grading algorithm for forced expiratory volume in 1 second (FEV) and forced vital capacity (FVC) for school-aged children and ) to compare the algorithm with the one proposed by the American Thoracic Society (ATS). We conducted a review of existing algorithms and obtained expert input.

Designing Clinical Trials for Anti-Inflammatory Therapies in Cystic Fibrosis.

The inflammatory response in the CF airway begins early in the disease process and becomes persistent through life in most patients. Inflammation, which is predominantly neutrophilic, worsens airway obstruction and plays a critical role in the development of structural lung damage. While cystic fibrosis transmembrane regulator modulators will likely have a dramatic impact on the trajectory of CF lung disease over the coming years, addressing other important aspects of lung disease such as inflammation will nevertheless remain a priority.

The remaining barriers to normalcy in CF: Advances in assessment of CF lung disease.

Despite early diagnosis of cystic fibrosis (CF) through newborn screening, a substantial proportion of infants and young children with CF still demonstrate physiologic and structural evidence of lung disease progression, such as obstructive airway disease and bronchiectasis. The growing availability of highly effective CF transmembrane conductance regulatory modulator therapy to the vast majority of people with CF has led to the potential to alter the natural history of CF lung disease, but to assess the full impact of these therapies on CF lung disease and to help guide treatment, sensitive measures of early and mild disease are needed. Chest imaging using computed tomography or magnetic resonance imaging is one approach, but technologic barriers and/or concern about exposure to ionizing radiation may limit its use.

Anti-inflammatories and mucociliary clearance therapies in the age of CFTR modulators.

Cystic fibrosis (CF) is a genetic and life-limiting disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. This multi-system disease is characterized by progressive lung disease and pancreatic insufficiency amongst other manifestations. CFTR primarily functions as a chloride channel that transports ions across the apical membrane of epithelial cells but has other functions, including bicarbonate secretion and inhibition of sodium transport.

How to use noninvasive positive airway pressure device data reports to guide clinical care.

There has been a significant increase in the past few decades in the number of children receiving noninvasive positive airway pressure (PAP) therapy at home. At present, PAP therapy can be successfully used in children of all ages, for a variety of indications. Data acquired from PAP devices is clinically useful, providing objective information regarding adherence, leak, and efficacy of PAP therapy.

Statins versus placebo for people with chronic obstructive pulmonary disease.

Background: Chronic obstructive pulmonary disease (COPD) is a common, preventable, and treatable respiratory disease. COPD exacerbations are associated with worse quality of life, increased hospitalisations, and increased mortality. Currently available pharmacological interventions have variable impact on exacerbation frequency.

Incidence and risk factors of paediatric cystic fibrosis-related diabetes.

Introduction: Cystic fibrosis-related diabetes (CFRD) is a common complication of cystic fibrosis (CF) directly linked to increased morbidity and mortality. Both the incidence of type I and type II diabetes has been shown to increase in the general population. In this study, we investigated the incidence and risk factors of CFRD in a paediatric CF population.