A5088091089- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Pediatric health and respiratory diseases
- Family and Disability Support Research
- Respiratory Support and Mechanisms
- Dysphagia Assessment and Management
- Pneumonia and Respiratory Infections
- Immunodeficiency and Autoimmune Disorders
- Respiratory viral infections research
- Mobile Health and mHealth Applications
- Systemic Sclerosis and Related Diseases
- Fetal and Pediatric Neurological Disorders
- Atomic and Subatomic Physics Research
- Childhood Cancer Survivors' Quality of Life
- Family and Patient Care in Intensive Care Units
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Genetic Syndromes and Imprinting
- Congenital Diaphragmatic Hernia Studies
- Nosocomial Infections in ICU
- Antibiotic Use and Resistance
- Respiratory and Cough-Related Research
- Vascular Anomalies and Treatments
- Esophageal and GI Pathology
- Genetic and Kidney Cyst Diseases
Leeds Teaching Hospitals NHS Trust
2020-2024
University of Leeds
2020-2023
Cystic Fibrosis Trust
2023
Leeds General Infirmary
2014-2020
St James's University Hospital
2017-2020
Great Ormond Street Hospital
2020
Leicester Royal Infirmary
2020
University College London
2020
University of Leicester
2020
Alexandria University
2020
To report a neuroradiologic phenotype associated with reduced generation of multiple motile cilia (RGMC) and mutations in the multicilin gene. We hypothesize that observed may reflect emerging role ependymal play regulating CSF production.Clinical radiologic records were retrospectively reviewed for 7 consecutive patients diagnosed by Leicester UK national primary ciliary dyskinesia (PCD) diagnostic laboratory.On MRI scanning, all demonstrated hydrocephalus, choroid plexus hyperplasia (CPH),...
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast other diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management mainly based on expert opinions treatment challenging due wide range of manifestations disease severity. To improve translational research facilitate development new treatments, the trial network for PCD...
Abstract Background and objective Antimicrobial resistance (AMR) is a global crisis, however, relatively little known regarding its impact in chronic respiratory disease the specific challenges faced by healthcare workers across world this field. We aimed to assess worker views on they face AMR disease. Methods An online survey was sent globally working through European Respiratory Society clinical research collaboration (AMR-Lung) focussed lung Responses from different geographic regions...
Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia. Symptoms include recurrent and chronic airway infections which can lead to deteriorating lung function inflammatory destructive disease in the form persistent atelectasis bronchiectasis. Routine blood testing may be used as tool for monitoring management. However, currently there are no consensus-based guidelines within field PCD. BEAT-PCD together with ERN-LUNG PCD-Clinical...
Background Development of therapeutic approaches for rare respiratory diseases is hampered by the lack systems that allow medium-to-high-throughput screening fully differentiated epithelium from affected patients. This a particular problem primary ciliary dyskinesia (PCD), genetic disease caused mutations in genes adversely affect movement and consequently mucociliary transport. Primary cell culture basal epithelial cells nasal brush biopsies followed ciliated differentiation at air–liquid...
BackgroundCystic fibrosis (CF) is one of the most common life-limiting autosomal-recessive disorders and caused by genetic defects in CF transmembrane conductance regulator (CFTR) gene. Some features this multisystem disease can be present primary immunodeficiency (PID).ObjectiveWe hypothesized that a carrier CFTR status might associated with worse outcome regarding structural lung patients PID.MethodsA within-cohort population-level statistical genomic analysis large European cohort PID was...
Burkholderia cepacia complex can be isolated in individuals with PCD. Extended microbiological analysis of respiratory samples maximise the chances isolation. Registry studies will help assessing impact these pathogens on long-term outcomes. https://bit.ly/3xSHCD9.
Primary ciliary dyskinesia (PCD) is an incurable, rare, inherited, chronic condition. Treatment includes the regular clearing of airway mucus, aggressive treatment infections and management hearing loss. Caregiver burden has not been explored, hence we interviewed 18 mothers 6 fathers children under years to understand impact diagnostic testing implications a positive diagnosis. Interviews were transcribed thematically analysed five key themes identified. These included parents' experiences...
Vascular rings can present with non-specific respiratory and/or oesophageal symptoms. Early diagnosis requires a high index of suspicion. This case report describes an uncommon acute presentation vascular ring. We thriving 14-month-old child long history recurrent wheeze and 'noisy breathing'. He presented acutely food bolus impaction in the oesophagus which led to arrest. Oesophagoscopy bronchoscopy suggested ring anomaly. A contrast-enhanced CT scan demonstrated right-sided aortic arch...
Abstract Development of therapeutic approaches for rare respiratory diseases is hampered by the lack systems that allow medium-to-high-throughput screening fully differentiated epithelium from affected patients. This a particular problem primary ciliary dyskinesia (PCD), genetic disease caused mutations in genes adversely affect movement and consequently mucociliary transport. Primary cell culture basal epithelial cells nasal brush biopsies, followed ciliated differentiation at air-liquid...
ObjectivesPCD is an autosomal recessive condition that affects the structure and function of motile cilia in respiratory tract, middle ear reproductive organs.The estimated prevalence 1:15,000, but as high 1:2265 British Asian population.Mutations CCDC103 gene have recently been identified PCD disease-causing Pakistani individuals.It found to be essential for dynein arm assembly ciliary motility.
<b>Background:</b> Monitoring disease progression and evaluating new treatments in PCD is hampered by the lack of sensitive physiological measures, particularly for preschool children. Patient-reported outcome measures including quality life (QoL) questionnaires are recognised as valid informative indices symptoms functioning. We aim to develop a questionnaire assessing QoL children (parent-proxy) parental burden associated with having child PCD: QOL-PCD<sup>PR</sup>. <b>Methods:</b>...
Airway clearance techniques (ACTs) are key in managing Primary Ciliary Dyskinesia (PCD) yet their effects unknown. Clinically stable individuals with PCD were imaged <sup>129</sup>Xe-MRI immediately pre, post and 4-hours ACT (or no-ACT). ACTs based on the individual's usual regimen. Ventilation defect percent (VDP) heterogeneity index (VHI) calculated from <sup>129</sup>Xe-MRI. 18 children (12 male, age 7-17 years, FEV<sub>1</sub> -1.0±1.4) assessed. (n=15) no-ACT (n=3) groups similar at...
<b>Background:</b> Primary Ciliary Dyskinesia (PCD) is a rare disease leading to recurrent respiratory tract infections and bronchiectasis. Robust objective measures of surveillance are required. <b>Methods:</b> Night-time cough frequency (coughs per hour (c/hr)) was reported in adults children attending Leeds teaching hospitals. Individuals with PCD (n=23) were compared pre-modulator CF (CF, n=27)) healthy controls (HC, n=21) at baseline health during after significant exacerbations...
Mutations that cause PCD have been reported in 50 genes. These account for around 70% of cases, with additional genes, and non-coding or synonymous changes known to be identified. Many adult patients non-CF bronchiectasis not investigated PCD. UK no genetic confirmation had whole genome testing the 100,000 Genome Project (GP). Ciliopathies accounted 1% rare disease cohort 100K GP. There were 143 cases (34 probands) 163 individuals (93 probands). 31% 5% biallelic pathogenic mutations We...
<p>Primary ciliary dyskinesia is an incurable, rare, inherited, chronic condition. Treatment includes regular clearing of airway mucus, aggressive treatment infections and management hearing loss. Caregiver burden has not been explored, hence we interviewed 18 English speaking mothers 6 fathers children under years who were diagnosed with PCD around the world. The parents described how child’s diagnosis, regimen, health status impacted their life. They discussed impact COVID-19...