Search Results - "Walker, Woolf T"
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PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia
Published in The European respiratory journal (01-04-2016)“…Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly…”
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Accuracy of diagnostic testing in primary ciliary dyskinesia
Published in The European respiratory journal (01-03-2016)“…Diagnosis of primary ciliary dyskinesia (PCD) lacks a "gold standard" test and is therefore based on combinations of tests including nasal nitric oxide (nNO),…”
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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia
Published in BMC medical genomics (23-09-2021)“…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…”
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The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
Published in ERJ open research (01-03-2023)“…Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the…”
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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
Published in ERJ open research (01-07-2021)“…Introduction In primary ciliary dyskinesia (PCD) impaired mucociliary clearance leads to recurrent airway infections and progressive lung destruction, and…”
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Predictors of immune response and reactogenicity to AS03B-adjuvanted split virion and non-adjuvanted whole virion H1N1 (2009) pandemic influenza vaccines
Published in Vaccine (19-10-2011)“…Highlights ► Further analysis of results from a trial of two pandemic vaccines was performed. ► Immune response was increased in those with post vaccination…”
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Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1
Published in BMC proceedings (05-03-2018)“…Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, chronic otitis…”
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Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard
Published in The European respiratory journal (01-04-2023)“…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…”
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Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia
Published in The European respiratory journal (01-08-2021)“…Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype-phenotype…”
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NO way! Nasal nitric oxide measurement in infants
Published in The European respiratory journal (01-06-2018)“…Primary ciliary dyskinesia (PCD) generally causes symptoms from the first weeks of life, but diagnosis is usually delayed for years or can be missed…”
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Nitric oxide in primary ciliary dyskinesia
Published in The European respiratory journal (01-10-2012)“…Nitric oxide is continually synthesised in the respiratory epithelium and is upregulated in response to infection or inflammation. Primary ciliary dyskinesia…”
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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Published in Journal of medical genetics (01-12-2023)“…Current clinical testing methods used to uncover the genetic basis of rare disease have inherent limitations, which can lead to causative pathogenic variants…”
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The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia
Published in American journal of respiratory and critical care medicine (01-01-2020)Get full text
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Clinical care of children with primary ciliary dyskinesia
Published in Expert review of respiratory medicine (03-10-2017)“…Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also…”
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Primary ciliary dyskinesia ciliated airway cells show increased susceptibility to Haemophilus influenzae biofilm formation
Published in The European respiratory journal (01-09-2017)“…Non-typeable (NTHi) is the most common pathogen in primary ciliary dyskinesia (PCD) patients. We hypothesised that abnormal ciliary motility and low airway…”
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Management of a child with primary ciliary dyskinesia
Published in Oxford Medical Case Reports (01-02-2020)“…Abstract Primary ciliary dyskinesia (PCD) is an autosomal recessive condition characterized by dysmotile cilia. Typically associated with defects in the cilia…”
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Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome
Published in Clinical genetics (01-03-2023)“…Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary…”
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Cephalosporin-3'-Diazeniumdiolate NO Donor Prodrug PYRRO-C3D Enhances Azithromycin Susceptibility of Nontypeable Haemophilus influenzae Biofilms
Published in Antimicrobial agents and chemotherapy (01-02-2017)“…PYRRO-C3D is a cephalosporin-3-diazeniumdiolate nitric oxide (NO) donor prodrug designed to selectively deliver NO to bacterial infection sites. The objective…”
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Pulmonary radioaerosol mucociliary clearance in primary ciliary dyskinesia
Published in The European respiratory journal (01-08-2014)Get full text
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