Search Results - "Hilliard, Tom"
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Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy
Published in American journal of respiratory and critical care medicine (01-09-2016)Get full text
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TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton
Published in American journal of medical genetics. Part A (01-09-2018)“…Transient receptor potential vanilloid 6 (TRPV6) functions in tetramer form for calcium transport. Until now, TRPV6 has not been linked with skeletal…”
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Pilot study of vapotherm oxygen delivery in moderately severe bronchiolitis
Published in Archives of disease in childhood (01-02-2012)“…[...]a retrospective review has described a 68% reduction in the rate of intubation of infants with bronchiolitis following introduction of HHHFNC therapy. 3…”
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Hospitalization for RSV bronchiolitis before 12 months of age and subsequent asthma, atopy and wheeze: A longitudinal birth cohort study
Published in Pediatric allergy and immunology (01-08-2005)“…Several epidemiological studies have reported recurrent wheezing and asthma in children after respiratory syncytial virus (RSV) bronchiolitis in infancy. The…”
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Abnormal pro-gly-pro pathway and airway neutrophilia in pediatric cystic fibrosis
Published in Journal of cystic fibrosis (01-01-2020)“…Proline–glycine–proline (PGP) is a bioactive fragment of collagen generated by the action of matrix metalloproteinase-9 (MMP-9) and prolylendopeptidase (PE),…”
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Increased Airway Smooth Muscle Mass in Children with Asthma, Cystic Fibrosis, and Non-Cystic Fibrosis Bronchiectasis
Published in American journal of respiratory and critical care medicine (15-04-2008)“…Structural alterations to airway smooth muscle (ASM) are a feature of asthma and cystic fibrosis (CF) in adults. We investigated whether increase in ASM mass…”
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Distinct patterns of inflammation in the airway lumen and bronchial mucosa of children with cystic fibrosis
Published in Thorax (01-02-2012)“…Studies in cystic fibrosis (CF) generally focus on inflammation present in the airway lumen. Little is known about inflammation occurring in the airway wall,…”
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Airway remodelling in children with cystic fibrosis
Published in Thorax (01-12-2007)“…Background:The relationship between airway structural changes and inflammation is unclear in early cystic fibrosis (CF) lung disease. A study was undertaken to…”
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Bronchoscopy following diagnosis with cystic fibrosis
Published in Archives of disease in childhood (01-10-2007)“…We recently changed our practice to perform bronchoscopy following diagnosis with cystic fibrosis. On a retrospective review of 25 children, Pseudomonas…”
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Nasal Abnormalities in Cystic Fibrosis Mice Independent of Infection and Inflammation
Published in American journal of respiratory cell and molecular biology (01-07-2008)“…It is not known whether the progressive airway changes in cystic fibrosis (CF) are all secondary to infection and inflammation. The CF mouse nose shares…”
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Endobronchial biopsy in childhood
Published in Chest (01-01-2008)Get more information
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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
Published in The lancet respiratory medicine (01-03-2022)“…Elexacaftor plus tezacaftor plus ivacaftor is a triple-combination cystic fibrosis transmembrane conductance regulator (CFTR) modulator regimen shown to be…”
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Recurrent lobar atelectasis in a child with cystic fibrosis
Published in Journal of the Royal Society of Medicine (01-06-2012)Get full text
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The Importance of Recognizing Protracted Bacterial Bronchitis in Children
Published in Indian journal of pediatrics (2014)Get full text
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Kendig’s disorders of the respiratory tract in children, 7th edition
Published in Archives of disease in childhood (01-06-2007)“…In the preface to this 7th edition, the four editors describe Kendig's disorders of the respiratory tract in children as the bible of paediatric pulmonology…”
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Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
Published in American journal of human genetics (05-07-2018)“…The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational…”
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Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome - neuro-endocrine tumours (ROHHAD-NET): case series and learning points
Published in Journal of pediatric endocrinology & metabolism : JPEM (25-04-2023)“…Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity and…”
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AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination
Published in American journal of medical genetics. Part A (01-04-2021)“…Spondylometaphyseal dysplasia with cerebral hypomyelination (SMD‐H) is a very rare but distinctive phenotype, unusually combining spondylometaphyseal dysplasia…”
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Cover Image, Volume 176A, Number 9, September 2018
Published in American journal of medical genetics. Part A (01-09-2018)Get full text
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