Paediatric respiratory reviews
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Paediatr Respir Rev · Jun 2018
Review Case ReportsCFTR modulator therapy in patients with cystic fibrosis and an organ transplant.
CFTR modulators are a class of drugs which directly target the defective CFTR protein in cystic fibrosis (CF), improving its function with resultant clinical improvements. Currently these drugs are confined to people with a limited selection of genetic mutations. ⋯ This excludes many patients who may benefit from the multisystem effects of CFTR modulator treatment. In this review, we discuss issues regarding drug interactions, organ transplantation and CFTR modulation.
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Paediatr Respir Rev · Jun 2018
ReviewThe clinical use of mechanical insufflation-exsufflation in children with neuromuscular disorders in Europe.
Mechanical insufflation-exsufflation (MI-E) is a strategy to treat pulmonary exacerbations in neuromuscular disorders (NMDs). Pediatric guidelines for optimal setting titration of MI-E are lacking and the settings used in studies vary. Our objective was to assess the actual MI-E settings being used in current clinical treatment of children with NMDs and a survey was sent in July 2016 to European expertise centers. ⋯ Asymmetric pressures were as common as symmetric. Both Ti, Te, Pi and Pe increased with age (p < 0.001). In conclusion, pediatric MI-E settings in clinical use varied greatly and altered with age, highlighting the need of more studies to improve our knowledge of optimal settings in MI-E in children with NMDs.
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The treatment of people with cystic fibrosis (CF) has been transformed by the availability of drugs that target the basic chloride defect in the disease. The use of drugs that target specific molecular defects embodies the goals of precision medicine, which incorporate preventive and therapeutic strategies and takes into account differences among individuals. However, the entirety of CF care, from diagnosis to understanding the clinical phenotype and developing a therapeutic strategy, depends on taking into account individual characteristics to achieve optimal outcomes. Future therapies are likely to be even more individualized ushering in a new era of precision medicine.
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Primary ciliary dyskinesia is an inherited disease characterized by impaired ciliary function leading to diverse clinical manifestations, including chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and infertility. Our understanding of the complex genetics and functional phenotypes of primary ciliary dyskinesia has rapidly grown, and over 35 disease-associated genes have been identified, which segregate into genes that encode axonemal motor proteins, regulatory proteins within the cilium, and cytoplasmic proteins involved in ciliary assembly. These findings have yielded unexpected insights into the clinical heterogeneity of disease and are beginning to revolutionize diagnostic testing for primary ciliary dyskinesia.
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Paediatr Respir Rev · Jun 2017
ReviewImpulse oscillometry in the assessment of asthmatic children and adolescents: from a narrative to a systematic review.
Diagnosis and management of asthma often relies mostly on symptoms because spirometry is not always reliable in some age groups, such as preschoolers. It is unclear whether impulse oscillometry (IOS) can supplement or replace spirometry. Available reports suggest that IOS has been applied with success in asthmatic children and adolescents to assess exacerbations, level of control, severity and response to treatment in the short and long term. ⋯ Our systematic review found only four studies that met the eligibility criteria. However, no meta-analysis was possible with the available data. Consequently, this review helps to identify research gaps involving IOS, highlighting opportunities for future studies.