Woolf T. Walker
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View article: Primary Cilia Dyskinesia: a National expert consensus statement on Standards of care
Primary Cilia Dyskinesia: a National expert consensus statement on Standards of care Open
Primary ciliary dyskinesia (PCD) is a genetically and clinically diverse disorder characterised by loss of normal ciliary function leading to chronic oto-sino-pulmonary disease, situs abnormalities and subfertility in men and women. There …
View article: Natural variability of lung function in primary ciliary dyskinesia: longitudinal analysis from the PROVALF-PCD cohort
Natural variability of lung function in primary ciliary dyskinesia: longitudinal analysis from the PROVALF-PCD cohort Open
Background The extent to which changes in lung function are due to natural variability in patients with primary ciliary dyskinesia (PCD) is unknown. We aimed to assess intra-individual variability in forced expiratory volume in 1 s (FEV 1 …
View article: Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis Open
Rare genetic respiratory disease has an incidence rate of more than 1:2500 live births in Northern Europe and carries significant disease burden. Early diagnosis improves outcomes, but many individuals remain without a confident genetic di…
View article: Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations Open
Background Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defect…
View article: Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project Open
Background Current clinical testing methods used to uncover the genetic basis of rare disease have inherent limitations, which can lead to causative pathogenic variants being missed. Within the rare disease arm of the 100 000 Genomes Proje…
View article: Sinonasal disease among patients with primary ciliary dyskinesia: an international study
Sinonasal disease among patients with primary ciliary dyskinesia: an international study Open
Background Sinonasal symptoms are a common feature of primary ciliary dyskinesia (PCD); however, literature about their severity and frequency, particularly during the life course, is scarce. Using baseline data from the Ear, nose and thro…
View article: The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum Open
Background Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population. Methods Individuals with symptoms sugges…
View article: Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard
Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard Open
Nasal nitric oxide (nNO) is extremely low in most people with primary ciliary dyskinesia (PCD) and its measurement is an important contributor to making the diagnosis. Existing guidelines and technical standards focus on nNO measurements i…
View article: Biallelic variants in <scp><i>CEP164</i></scp> cause a motile ciliopathy‐like syndrome
Biallelic variants in <span><i>CEP164</i></span> cause a motile ciliopathy‐like syndrome Open
Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting the brain…
View article: The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN Open
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other rare lung diseases like cystic fibrosis (CF), there are only few clinical…
View article: Whole genome sequencing in the diagnosis of primary ciliary dyskinesia
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia Open
Background It is estimated that 1–13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD is a disorder caus…
View article: International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives
International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives Open
Introduction In primary ciliary dyskinesia (PCD) impaired mucociliary clearance leads to recurrent airway infections and progressive lung destruction, and concern over chronic airway infection and patient-to-patient transmission is conside…
View article: Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia Open
Background Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype–phenotype relationships have mostly arisen from small case series because existing …
View article: A Revised Protocol for Culture of Airway Epithelial Cells as a Diagnostic Tool for Primary Ciliary Dyskinesia
A Revised Protocol for Culture of Airway Epithelial Cells as a Diagnostic Tool for Primary Ciliary Dyskinesia Open
Air–liquid interface (ALI) culture of nasal epithelial cells is a valuable tool in the diagnosis and research of primary ciliary dyskinesia (PCD). Ex vivo samples often display secondary dyskinesia from cell damage during sampling, infecti…
View article: Clinical features and management of children with primary ciliary dyskinesia in England
Clinical features and management of children with primary ciliary dyskinesia in England Open
Objective In England, the National Health Service commissioned a National Management Service for children with primary ciliary dyskinesia (PCD). The aims of this study were to describe the health of children seen in this Service and compar…
View article: Management of a child with primary ciliary dyskinesia
Management of a child with primary ciliary dyskinesia Open
Primary ciliary dyskinesia (PCD) is an autosomal recessive condition characterized by dysmotile cilia. Typically associated with defects in the cilia structure, it results in impaired mucociliary clearance of pathogens from the lungs and s…
View article: The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia
The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia Open
We welcome the correspondence from Lavie and Amirav (1), highlighting the difficulties diagnosing primary ciliary dyskinesia (PCD) and the role of high-speed video analysis (HSVA). As members of the European Respiratory Society (ERS) PCD D…
View article: NO way! Nasal nitric oxide measurement in infants
NO way! Nasal nitric oxide measurement in infants Open
Primary ciliary dyskinesia (PCD) generally causes symptoms from the first weeks of life, but diagnosis is usually delayed for years or can be missed altogether. Referral for diagnostic testing is often late because key symptoms, such as we…
View article: Primary ciliary dyskinesia ciliated airway cells show increased susceptibility to<i>Haemophilus influenzae</i>biofilm formation
Primary ciliary dyskinesia ciliated airway cells show increased susceptibility to<i>Haemophilus influenzae</i>biofilm formation Open
Non-typeable Haemophilus influenzae (NTHi) is the most common pathogen in primary ciliary dyskinesia (PCD) patients. We hypothesised that abnormal ciliary motility and low airway nitric oxide (NO) levels on airway epithelial cells from PCD…
View article: Cephalosporin-3′-Diazeniumdiolate NO Donor Prodrug PYRRO-C3D Enhances Azithromycin Susceptibility of Nontypeable Haemophilus influenzae Biofilms
Cephalosporin-3′-Diazeniumdiolate NO Donor Prodrug PYRRO-C3D Enhances Azithromycin Susceptibility of Nontypeable Haemophilus influenzae Biofilms Open
PYRRO-C3D is a cephalosporin-3-diazeniumdiolate nitric oxide (NO) donor prodrug designed to selectively deliver NO to bacterial infection sites. The objective of this study was to assess the activity of PYRRO-C3D against nontypeable Haemop…
View article: European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia Open
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no “go…
View article: PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia Open
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring expensive equipment and experienced PCD scientists. This study ai…
View article: Accuracy of diagnostic testing in primary ciliary dyskinesia
Accuracy of diagnostic testing in primary ciliary dyskinesia Open
Diagnosis of primary ciliary dyskinesia (PCD) lacks a “gold standard” test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electr…