Abstract：
:The Clinical and Functional Translation of CFTR (CFTR2) project presents a novel approach to clinical and functional annotation of mutations identified in disease-causing genes. Phenotype and genotype information on approximately 40,000 cystic fibrosis (CF) patients were collected from registries and large clinics. The disease-liability of the 160 most frequently reported mutations was evaluated by means of a multistage process which involved clinical (sweat chloride average), functional (expression in cell-based systems) and epidemiological (mutation analysis in obligate heterozygotes) steps. The results of this analysis can be consulted in a dedicated website. Data originated by CFTR2 may be valuable in several facets of CF care, including diagnosis, newborn screening, carrier testing, genotype/phenotype correlation and mutation-specific therapeutics.
journal_name
Paediatr Respir Revjournal_title
Paediatric respiratory reviewsauthors
Castellani C,CFTR2 team.doi
10.1016/j.prrv.2013.01.006subject
Has Abstractpub_date
2013-05-01 00:00:00pages
2-5eissn
1526-0542issn
1526-0550pii
S1526-0542(13)00008-0journal_volume
14 Suppl 1pub_type
杂志文章abstract：:Bronchopulmonary dysplasia (BPD) is a common complication of preterm birth. Chest imaging is important in making the diagnosis of BPD, and in assessing for complications. More recently computerised tomography (CT) scanning has provided insights in to the pathophysiology of BPD. Studies in infants, young and school age...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2010.05.005
更新日期：2010-09-01 00:00:00
abstract：:Regular exercise and habitual physical activity are important for patients with cystic fibrosis (CF). Research has demonstrated the benefits of aerobic, anaerobic, and strength exercise training programs for health and quality of life, however, the CF patient is faced with unique barriers and challenges to participati...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2009.04.001
更新日期：2009-09-01 00:00:00
abstract：:The term "mucoactive agent" refers to any medication used to improve the clearance of airway secretions. It is not synonymous with the word "mucolytic" as this strictly means a drug that decreases the viscosity of secretions. In many cases, decreased viscosity will adversely affect cough transport. For this reason man...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2006.04.198
更新日期：2006-01-01 00:00:00
abstract：:NICE produced a guideline for the diagnosis and management of CF (NG78) in October 2017. This paper describes the process of producing the guideline and highlights some of the areas covered by it, including ideas for further research and tools that can be used by purchasers to help improve CF care. ...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2019.02.006
更新日期：2019-08-01 00:00:00
abstract：:Control of the cardiovascular and respiratory systems undergoes rapid maturation during infancy. Sleep is at a lifetime maximum during this period and has a marked influence on cardiorespiratory function. The mechanisms leading to sudden infant death syndrome (SIDS) may include a failure in the neural integration of t...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2004.04.011
更新日期：2004-09-01 00:00:00
abstract：AIM:To describe the respiratory and nutritional supportive care and hospitalisations required in the real-world scenario in children with SMA type 1 treated with nusinersen. METHODS:Single-centre observational cohort study of children with SMA1 commencing nusinersen from November 2016 to September 2018. Motor, respira...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2020.09.002
更新日期：2020-09-22 00:00:00
abstract：:Social Robots are used in different contexts and, in healthcare, they are better known as Socially Assistive Robots. In the context of asthma, the use of Socially Assistive Robots has the potential to increase motivation and engagement to treatment. Other positive roles proposed for Socially Assistive Robots are to pr...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2020.11.001
更新日期：2020-12-05 00:00:00
abstract：:The major morbidity and mortality associated with cerebral palsy (CP) relates to respiratory compromise. This manifests through repeated pulmonary aspiration, airway colonization with pathogenic bacteria, the evolution of bronchiectasis and sleep disordered breathing. An accurate assessment involving a multidisciplina...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2008.10.003
更新日期：2009-03-01 00:00:00
abstract：:The thorax consists of the rib cage and the respiratory muscles. It houses and protects the various intrathoracic organs such as the lungs, heart, vessels, esophagus, nerves etc. It also serves as the so-called "respiratory pump" that generates the movement of air into the lungs while it prevents their total collapse ...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2013.12.003
更新日期：2014-09-01 00:00:00
abstract：:Non-invasive ventilation (NIV) provides significant advantages to the paediatrician who cares for children with chronic ventilatory insufficiency and who would like to manage these children in the home environment. There is a growing experience in the use of NIV in the management of children with upper airway obstruct...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1053/prrv.2000.0035
更新日期：2000-06-01 00:00:00
abstract：:Pediatric donation after circulatory death (pDCD) is an established pathway for organ donation. It remains, however, a relatively rare event worldwide, and most clinicians outside of the pediatric intensive care unit (PICU) are unfamiliar with it. The goal of this review is to introduce the processes and concepts of p...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2018.03.006
更新日期：2019-02-01 00:00:00
abstract：INTRODUCTION:Corticosteroids can be used prenatally to mature the fetal lungs and postnatally to treat or prevent chronic lung disease (CLD). Randomised controlled trials have been performed to evaluate the benefits and risks of perinatal corticosteroid therapy. METHODS:Systematic reviews of randomised controlled tria...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/s1526-0542(04)90057-7
更新日期：2004-01-01 00:00:00
abstract：:Inhaled nitric oxide (iNO) is a selective pulmonary vasodilator. In randomised trials, iNO increased gas exchange modestly and had no effect on the outcome (survival, chronic lung disease, CLD) in very low birth-weight (VLBW) infants. NO is an important component of the innate immune system and a lipid- soluble free r...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/s1526-0542(04)90047-4
更新日期：2004-01-01 00:00:00
abstract：:The lung is continually at risk of exposure to noxious environmental agents and respiratory pathogens. An elaborate series of defence mechanisms have been developed to protect the airways from these insults. The lower respiratory tract is protected by local mucociliary mechanisms that involve the integration of the ci...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1053/prrv.2000.0009
更新日期：2000-03-01 00:00:00
abstract：:Primary Ciliary Dyskinesia (PCD) is an autosomal recessive genetic condition affecting the function of motile cilia. The upper respiratory tract is lined with ciliated epithelium and hence a hallmark of PCD is the development, from the neonatal period onwards, of persisting secretion retention and suppurative infectio...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2015.09.006
更新日期：2016-03-01 00:00:00
abstract：:Cough is a common presenting symptom to paediatricians and paediatric respiratory physicians. The causes of chronic cough in childhood are significantly different from those in adults, and a different approach to diagnosis and management is needed. In most cases cause can be identified or a satisfactory label given. T...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2005.11.008
更新日期：2006-03-01 00:00:00
abstract：:Cardiac abnormalities occur in association with many of the neuromuscular disorders that present in childhood. Genetic defects involving the cytoskeleton, nuclear membrane, and mitochondrial function have all been described in patients with skeletal myopathy and cardiac involvement. The most common classes of neuromus...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2009.10.004
更新日期：2010-03-01 00:00:00
abstract：:Public awareness of the impact of air quality on health is increasing worldwide. Indoor and outdoor air pollutants impair children's growing lungs, and increase the risk of respiratory infections. In many cities, children face indoor air pollution from fuels used for cooking and heating, as well as outdoor pollution f...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2014.03.001
更新日期：2014-06-01 00:00:00
abstract：:Individually, congenital abnormalities of the lung are rare but collectively they form an important group of conditions. The range of malformations is broad and the clinical impact is very variable, depending on the degree of malformation. This article groups these conditions under their traditional headings and consi...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1053/prrv.2000.0072
更新日期：2000-12-01 00:00:00
abstract：:The treatment of interstitial lung disease in children depends on the nature of the underlying pathology. In approximately 50% of cases a specific aetiology can be found such as: chronic viral infection, an auto-immune process, sarcoidosis or alveolar proteinosis. In the remainder, the process is idiopathic and the pa...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2004.01.004
更新日期：2004-06-01 00:00:00
abstract：:The concept of personalised medicine is likely to revolutionise the treatment of adult obstructive sleep apnoea as a result of recent advances in the understanding of disease heterogeneity by identifying clinical phenotypes, pathophysiological endotypes, biomarkers and treatable traits. Children with the condition sho...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2020.01.002
更新日期：2020-11-01 00:00:00
abstract：:Since January 2020, there has been a worldwide pandemic of COVID-19, caused by a novel coronavirus-severe acute respiratory syndrome coronavirus 2. The United States has been particularly affected, with the largest number of confirmed cases in a single country in the world. Healthcare systems for adults as well as chi...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2020.06.002
更新日期：2020-09-01 00:00:00
abstract：:There are many important respiratory manifestations of endocrine and metabolic diseases in children. Acute and chronic pulmonary infections are the most common respiratory abnormalities in patients with diabetes mellitus, although cardiogenic and non-cardiogenic pulmonary oedema are also possible. Pseudohypoaldosteron...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2011.01.004
更新日期：2012-03-01 00:00:00
abstract：:Accumulating data suggest that prenatal compromises leading to intrauterine growth restriction (IUGR) increase the risk for respiratory deficiencies after birth. In this respect, a growing body of epidemiological evidence in infants, children and adults indicates that small for gestational (SGA) birth weight can adver...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2012.10.001
更新日期：2013-12-01 00:00:00
abstract：:Increasing numbers of children and young adults are now receiving home ventilation. Whereas in some neuromuscular conditions the outcome and quality of life gains are clear cut; in others eg Spinal Muscular Atrophy Type I there are a few outcome studies with conflicting results and it is more difficult to balance the ...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2005.06.003
更新日期：2005-09-01 00:00:00
abstract：:Conflict between the demands of the environment in which a child lives and the child's intrinsic sleep signature, produces stress-behaviour difficulties in the child. Distorted development, especially distorted brain development, often leads to distorted intrinsic sleep signatures. The sleep-behaviour outcome, arising...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2013.08.001
更新日期：2014-03-01 00:00:00
abstract：:The obstructive sleep apnoea syndrome (OSAS) is common in children and results in several complications when untreated. Considering that children are undergoing important brain development, recent research has focused on neurocognitive and behavioural (NCB) complications of OSAS. Studies have shown that treatment of p...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2016.05.004
更新日期：2016-09-01 00:00:00
abstract：:Pneumonia is highly prevalent in both developed and developing countries. In this review we list the main organisms affecting children with pneumonia and we propose a summary of the best possible diagnostic and therapeutic measures. ...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2006.04.221
更新日期：2006-01-01 00:00:00
abstract：:There are hardly any controlled studies in paediatric tracheostomy care; instead, most established standards, procedures and details have been elaborated at the bedside by trial and error. Once the appropriate tube is chosen, tube care consists of tube change, fixation, management of secretions, humidification of insp...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2006.06.003
更新日期：2006-09-01 00:00:00
abstract：:Asthma is most frequent chronic disease in childhood. Childhood asthma frequently persists to adulthood and the available evidence suggests that the severity of childhood asthma predicts the severity of asthma in the adulthood. To prevent long term remodeling of the airways and improve prognosis, early diagnosis and t...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2006.04.171
更新日期：2006-01-01 00:00:00
