Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.

Background: Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in >50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lower airway disease, subfertility, and laterality defects.

How to: assess patient suitability for unlicensed phage therapy in the United Kingdom.

Background: Bacteriophage (phage) therapy is a promising alternative antimicrobial approach that has the potential to transform the way we treat bacterial infections. The antibiotic resistance crisis is driving renewed interest in phage therapy. There are currently no licensed phage therapy medicinal products and phage therapy is used in small but growing patient numbers on an unlicensed basis.

Airway management in infants with Robin sequence in the United Kingdom and Ireland: A prospective population-based study.

Objective: There is currently no consensus about managing upper airway obstruction (UAO) in infants with Robin sequence (RS), in terms of treatment efficacy or clinical outcomes. This study describes UAO management in UK/Ireland, and explores relationships between patient characteristics, UAO management, and clinical outcomes in the first 2 years of life.

Methods: Active surveillance of RS throughout UK/Ireland via the British Paediatric Surveillance Unit and nationally commissioned cleft services.

Pulse oximetry in patients with pigmented skin: What I should know.

Pulse oximetry is widely used to non-invasively estimate the oxygen saturation of haemoglobin in arterial blood (SpO). It is used widely throughout healthcare and was used extensively during the Covid-19 pandemic to detect and treat hypoxic patients. Research has suggested that pulse oximetry is less accurate in patients with darker skin.

Lung clearance index (LCI) changes after initiation of Elexacaftor/Tezacaftor/Ivacaftor in children with cystic fibrosis aged between 6 and 11 years: The "real-world" differs from trial data.

Background: Elexacaftor in combination with Tezacaftor and Ivacaftor (ETI) became licensed in the United Kingdom in early 2022 for children aged 6-11 years with cystic fibrosis (CF) and an eligible mutation. Many in this age group have excellent prior lung health making quantitative measurement of benefit challenging. Clinical trials purport that lung clearance index (LCI) measurement is most suitable for this purpose.

Global birth prevalence of Robin sequence in live-born infants: a systematic review and meta-analysis.

Robin sequence (RS), a congenital disorder of jaw maldevelopment and glossoptosis, poses a substantial healthcare burden and has long-term health implications if airway obstruction is suboptimally treated. This study describes the global birth prevalence of RS and investigates whether prevalence estimates differ by geographical location, ethnicity or study data source (registry non-registry data). The protocol was prospectively registered with PROSPERO.

Exercise as an Airway Clearance Technique in people with Cystic Fibrosis (ExACT-CF): rationale and study protocol for a randomised pilot trial.

Background: Chest physiotherapy is an established cornerstone of care for people with cystic fibrosis (pwCF), but is often burdensome. Guidelines recommend at least one chest physiotherapy session daily, using various airway clearance techniques (ACTs). Exercise (with huffs and coughs) may offer an alternative ACT, however the willingness of pwCF to be randomised into a trial needs testing.

Guidance and standard operating procedures for functional exercise testing in cystic fibrosis.

Regular exercise testing is recommended for all people with cystic fibrosis (PwCF). A range of validated tests, which integrate both strength and aerobic function, are available and increasingly being used. Together, these tests offer the ability for comprehensive exercise evaluation.

Retrospective cohort analysis of weight changes during the COVID-19 pandemic in a pediatric asthma population.

Objective: To investigate the BMI trajectories of children attending a tertiary asthma clinic during the COVID-19 pandemic.

Methods: Data were collected retrospectively on children and young people with asthma who attended the Royal Hospital for Children and Young People (RHCYP) before March 2020 (pre-COVID-19) and after August 2021 (the lifting of national restrictions).

Main Outcome Measures: Changes in weight, height, and BMI Z score measured between 13/03/2019 and 13/03/2020 (timepoint 1) and then again during the period 01/08/2021 to 01/10/2022 (timepoint 2); changes in lung function parameters (FEV) between the timepoints; proportion of study sample classed as obese and overweight at both timepoints; interaction analyses according to deprivation indices (SIMD decile), the use of high dose inhaled corticosteroid (ICS) therapy, and the presence of atopy.

Survey of exercise testing and training in cystic fibrosis clinics in the UK: a decade of progress.

Objectives: Regular exercise testing is recommended for people with cystic fibrosis (pwCF), as is the provision and regular review of exercise training programmes. A previous survey on exercise testing and training for pwCF in the UK was conducted over a decade ago. With the landscape of CF changing considerably during this time, this survey aimed to evaluate UK-based exercise testing and training practices for pwCF a decade on.

Systematic review and meta-analysis: Associations of vitamin D with pulmonary function in children and young people with cystic fibrosis.

Background: Increasing evidence suggests that vitamin D is associated with pulmonary health, which may benefit children and young people diagnosed with Cystic Fibrosis (cypCF). Therefore, the aim of this systematic review was to evaluate primary research to establish associations between 25OHD and pulmonary health in cypCF.

Methods: Electronic databases were searched with keywords related to CF, vitamin D, children/young people and pulmonary function.

The Exeter Activity Unlimited statement on physical activity and exercise for cystic fibrosis: methodology and results of an international, multidisciplinary, evidence-driven expert consensus.

Background: The roles of physical activity (PA) and exercise within the management of cystic fibrosis (CF) are recognised by their inclusion in numerous standards of care and treatment guidelines. However, information is brief, and both PA and exercise as multi-faceted behaviours require extensive stakeholder input when developing and promoting such guidelines.

Method: On 30 June and 1 July 2021, 39 stakeholders from 11 countries, including researchers, healthcare professionals and patients participated in a virtual conference to agree an evidence-based and informed expert consensus about PA and exercise for people with CF.

Cystic fibrosis related diabetes is not associated with maximal aerobic exercise capacity in cystic fibrosis: a cross-sectional analysis of an international multicenter trial.

Background: Previous studies have reported differences in aerobic exercise capacity, expressed as peak oxygen uptake (VO), between people with and without cystic fibrosis (CF) related diabetes (CFRD). However, none of the studies controlled for the potential influence of physical activity on VO. We investigated associations between CFRD and VO following rigorous control for confounders including objectively measured physical activity.

The impact of COVID-19 upon the delivery of exercise services within cystic fibrosis clinics in the United Kingdom.

Objectives: The COVID-19 pandemic has resulted in unprecedent changes to clinical practice, and as the impact upon delivery of exercise services for people with cystic fibrosis (CF) in the United Kingdom was unknown, this was characterised via a national survey.

Methods: An electronic survey was distributed to healthcare professionals involved in the exercise management of CF via established professional networks.

Results: In total, 31 CF centres participated.

Obstructive sleep apnea syndrome as a rare presentation in a young girl with a central nervous system tumor.

Unlabelled: Sleep-related breathing disorders are a common problem in infancy and childhood. The most common type of sleep-related breathing disorder in this age group is obstructive sleep apnea syndrome (OSAS), generally caused by factors affecting airway patency, such as tonsillar hypertrophy or obesity. However, in adults OSAS can also be caused by processes affecting the brainstem, such as central nervous system tumors.

Effects of a Partially Supervised Conditioning Program in Cystic Fibrosis: An International Multicenter, Randomized Controlled Trial (ACTIVATE-CF).

The long-term effects of vigorous physical activity (PA) on lung function in cystic fibrosis are unclear. To evaluate effects of a 12-month partially supervised PA intervention using motivational feedback. In a parallel-arm multicenter randomized controlled trial (ACTIVATE-CF), relatively inactive patients aged at least 12 years were randomly assigned (1:1 ratio) to an intervention group or control group.

Rethinking physical exercise training in the modern era of cystic fibrosis: A step towards optimising short-term efficacy and long-term engagement.

Exercise is considered as an important component of the package of care delivered to people with cystic fibrosis (pwCF). However, despite the well-known short-term physiological and psychological benefits, training effects are heterogenous and the transfer of structured exercise programmes to the daily life of pwCF is challenging. Training concepts and strategies developed over the last decades must be adapted to consider the aging population of pwCF with associated comorbidities, and also a new generation of young pwCF that are healthier than ever.

The impact of plasma 25-hydroxyvitamin D on pulmonary function and exercise physiology in cystic fibrosis: A multicentre retrospective study.

Background: A 25-hydroxyvitamin D (25OHD) may exert immunomodulatory effects on respiratory health, which may translate to improvements in exercise physiology. Thus, we aimed to investigate whether plasma 25OHD is associated with lung function and aerobic fitness in people with cystic fibrosis (pwCF).

Methods: A multicentre retrospective review of pwCF (> 9 years old) attending the Royal Hospital for Sick Children (Edinburgh) or Wessex CF-Unit (Southampton) was performed between July 2017 and October 2019.

Subjective sleep-related breathing disorders and executive function in children with intermittent or mild persistent asthma.

Objective: The impact on executive function performance of sleep-related disorders in asthmatic children has been scarcely studied in community settings. The aims of the present study were to assess the prevalence of sleep-related breathing disorders (SRBD) in children with intermittent or mild persistent asthma in primary care settings, and to examine the possible correlations with measures of executive function.

Methods: We performed a case-control study including 76 children with asthma (intermittent or mild persistent) and 85 healthy controls.

VO as an exercise tolerance endpoint in people with cystic fibrosis: Lessons from a lumacaftor/ivacaftor trial.

Background: The impact of lumacaftor/ivacaftor on exercise tolerance in people with cystic fibrosis (CF) has not been thoroughly studied.

Methods: We conducted a multisite Phase 4 trial comparing the impact of lumacaftor/ivacaftor on exercise tolerance with that of placebo in participants ≥ 12 years of age with CF homozygous for F508del-CFTR. The primary endpoint was relative change from baseline in maximum oxygen consumption (VO) during cardiopulmonary exercise testing (CPET) at Week 24.

Adaptation to reduced lung function in children and young people with spinal deformity.

Background: Severe scoliosis can affect respiratory function in growing patients and produce cardiopulmonary complications, leading to significant morbidity. The development of spinal deformity may impact on young patients' level of function and reported quality of life (QOL). The aim of this study was to investigate the relationship between lung function, exercise capacity and quality of life in young patients with spinal deformity.