Tom Hilliard
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View article: Efficacy and safety of elexacaftor plus tezacaftor plus ivacaftor versus tezacaftor plus ivacaftor in people with cystic fibrosis homozygous for F508del-CFTR: a 24-week, multicentre, randomised, double-blind, active-controlled, phase 3b trial
Efficacy and safety of elexacaftor plus tezacaftor plus ivacaftor versus tezacaftor plus ivacaftor in people with cystic fibrosis homozygous for F508del-CFTR: a 24-week, multicentre, randomised, double-blind, active-controlled, phase 3b trial Open
Elexacaftor plus tezacaftor plus ivacaftor is a triple-combination cystic fibrosis transmembrane conductance regulator (CFTR) modulator regimen shown to be generally safe and efficacious in people with cystic fibrosis aged 12 years or olde…
View article: Initial experience of the safety and tolerability of the BNT162b2 (Pfizer-Bio-N-Tech) vaccine in extremely vulnerable children aged 12–15 years
Initial experience of the safety and tolerability of the BNT162b2 (Pfizer-Bio-N-Tech) vaccine in extremely vulnerable children aged 12–15 years Open
Healthy children generally have a mild illness with SARS-COV-2; however, some comorbidities may predispose to severe COVID-19 disease. Neurological conditions were the predominant comorbidity of hospitalised children in the UK with COVID-1…
View article: Management of severe pulmonary Langerhans cell histiocytosis in children
Management of severe pulmonary Langerhans cell histiocytosis in children Open
Patients with pulmonary Langerhans cell histiocytosis (LCH) typically have a benign course but may have extensive cystic lung disease with rare life‐threatening complications including multiple and recurrent pneumothoraces and respiratory …
View article: Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype
Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype Open
View article: Abnormal pro-gly-pro pathway and airway neutrophilia in pediatric cystic fibrosis
Abnormal pro-gly-pro pathway and airway neutrophilia in pediatric cystic fibrosis Open
View article: Cover Image, Volume 176A, Number 9, September 2018
Cover Image, Volume 176A, Number 9, September 2018 Open
The cover image, by Christine P. Burren et al., is based on the New Syndrome TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton, DOI: 10.10…
View article: <i>TRPV6</i> compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton
<i>TRPV6</i> compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton Open
Transient receptor potential vanilloid 6 ( TRPV6 ) functions in tetramer form for calcium transport. Until now, TRPV6 has not been linked with skeletal development disorders. An infant with antenatal onset thoracic insufficiency required s…
View article: Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function Open
The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth have been attribute…
View article: Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy
Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy Open