Abstract：
:Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive condition. The signs and symptoms are due to congenital abnormalities of ciliary structure and function, resulting in impaired mucociliary clearance. This affects the ciliated epithelium lining the nose, sinuses, Eustachian tube and airways. As a consequence, the patient typically presents with a range of features, including recurrent upper and lower respiratory tract infections, persistent glue ear and possible hearing deficit. Around half of all patients will have situs anomalies, most typically situs inversus totalis. The most significant morbidity results from the development of bronchiectasis. Access to early diagnosis and effective treatment is essential to reduce disease progression and to alleviate the burden of symptoms. This review aims to provide a clinical guide to what to look for and when to suspect the diagnosis. Recent advances in the screening and diagnostic tests available will be outlined, as well as some future directions that aim to enhance the current diagnostic techniques.
journal_name
Paediatr Respir Revjournal_title
Paediatric respiratory reviewsauthors
Hogg Cdoi
10.1016/j.prrv.2008.10.001subject
Has Abstractpub_date
2009-06-01 00:00:00pages
44-50issue
2eissn
1526-0542issn
1526-0550pii
S1526-0542(08)00075-4journal_volume
10pub_type
杂志文章,评审abstract：:Interpretation of the paediatric chest X-ray may appear intimidating at first but knowledge of a few basic rules and an understanding of how the radiographic appearance may be influenced by age and technique will help the clinician arrive at the correct diagnosis in many cases. A structured and logical approach to X-r...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1053/prrv.2000.0018
更新日期：2000-03-01 00:00:00
abstract：:During sleep changes in central and peripheral neurological pathways and muscle tone result in unique vulnerabilities in the respiratory system. Abnormalities of the respiratory system that are not apparent in wakefulness can become evident during particular sleep states, making overnight polysomnography (PSG) a valua...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2008.01.003
更新日期：2008-09-01 00:00:00
abstract：:This paper describes a patient whose decline over two years was precipitous, from an active independent life with lung function (FEV1) above 50% to requiring transplantation. The main pathogen on sputum culture throughout that period was Scediosporium apiosperum. The epidemiology pathogenicity and treatment of this fu...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章
doi：10.1016/j.prrv.2013.02.004
更新日期：2013-05-01 00:00:00
abstract：:Our aim was to obtain knowledge of how meteorological conditions affect community epidemics of respiratory syncytial virus (RSV) infection. We recorded year-round RSV activity in nine cities that differ markedly in geographic location and climate. We correlated local weather conditions with weekly or monthly RSV cases...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/S1526-0542(09)70004-1
更新日期：2009-06-01 00:00:00
abstract：:This article will review traditional and newer microbiological techniques for the diagnosis of mycobacterial respiratory infections. It will concentrate on the diagnosis of infections due to Mycobacterium tuberculosis, the main mycobacterium causing respiratory infections of clinical and public health importance. The ...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2007.07.002
更新日期：2007-09-01 00:00:00
abstract：:This paper is an attempt to convey in a lucid way how to go about writing a scientific article for publication in an appropriate journal. Topics covered are: a) reasons to write a paper b) types of papers c) asking a question and formulating an hypothesis d) the complex series of steps necessary before you begin your ...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章
doi：10.1016/j.prrv.2011.02.004
更新日期：2012-06-01 00:00:00
abstract：:Pulmonary arterial (PA) hypertension in preterm infant is an important consequence of chronic lung disease of prematurity (CLD) arising mainly due to impaired alveolar development and dysregulated angiogenesis of the pulmonary circulation. Although PA pressure and resistance in these children normalise by school age, ...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2012.08.003
更新日期：2013-12-01 00:00:00
abstract：:Obese adolescents, particularly those with extreme obesity (body mass index > or =40 kg/m(2)), are developing serious medical complications at an unexpectedly high rate. As non-operative approaches to weight loss have shown less than optimal results, paediatric patients are increasingly seeking bariatric surgical inte...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2006.08.004
更新日期：2006-12-01 00:00:00
abstract：:A systematic review was performed (i) to describe the reported overall rate of progression of CF lung disease quantified as FEV1%predicted decline with age, (ii) to summarise identified influencing risk factors and (iii) to review methods used to analyse CF lung disease progression data. A search of publications provi...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2016.03.002
更新日期：2016-09-01 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：:Renal disease is relatively rare in cystic fibrosis even though the cystic fibrosis transmembrane regulator (CFTR) protein is expressed in abundance in the kidney. Aberrant CFTR expression probably explains the subtle abnormalities in renal concentrating and diluting ability described in cystic fibrosis and possibly t...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章
doi：
更新日期：2002-06-01 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：: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：:With the advent of improved antenatal imaging over the past 10 years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2006.10.001
更新日期：2007-03-01 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：:During the first year of life and particularly the first 6 months autonomic control of the cardio-respiratory system is still undergoing maturation and infants are at risk of cardio-respiratory instability. These instabilities are most marked during sleep, which is important as infants spend the majority of each 24 ho...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2013.02.012
更新日期：2014-06-01 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：:Whilst substantial progress has been made in the treatment of cystic fibrosis, the disease still carries a significant burden in terms of symptoms, requirement for treatment and early mortality. The last decade has witnessed a new era in the development of small molecule drugs targeting the CFTR protein, which for the...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2017.03.008
更新日期：2018-03-01 00:00:00
abstract：:Comprehensive newborn screening for cystic fibrosis has occurred for more than 25 years in some regions and the results of randomised controlled trials reporting the outcomes have been published. Testing protocols for CF have recently been reviewed and the sensitivity and specificity of these protocols are high. In sp...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2008.09.004
更新日期：2008-12-01 00:00:00
abstract：:Significant improvement in the survival of patients with CF has been achieved in the last decades. The improved clinical status of the patients is mainly the result of a better understanding of the natural course of infection and inflammation in CF that has led to the implementation of strategies that increase the lif...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2017.06.004
更新日期：2017-09-01 00:00:00
abstract：:Newborn screening for cystic fibrosis remains controversial because there is still little agreement that prophylactic interventions provide substantial long-term benefits. In such situations, where there are some medical benefits and the costs are not prohibitive, it is important to consider the psychosocial implicati...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/s1526-0542(03)00086-1
更新日期：2003-12-01 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：:Asthma is a common disease in paediatrics and adults with a significant morbidity, mortality, and financial burden worldwide. Asthma is now recognized as a heterogeneous disease and emerging clinical and laboratory research has elucidated understanding of asthma's underlying immunology. The future of asthma is classif...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2019.08.002
更新日期：2020-11-01 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：:Advances in the elucidation of cystic fibrosis transmembrane regulator (CFTR) function have resulted in a greater understanding of the relationship between the CF gene defect and clinical disease. The clinical phenotype is influenced by the class of mutation and possibly by other modifier genes. CFTR regulates the vol...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1053/prrv.2000.0029
更新日期：2000-06-01 00:00:00
abstract：:Asthma is one of the commonest chronic conditions in children and can occasionally be fatal. Little has changed regarding the risk factors for children dying from asthma in the last 30 years. The majority of deaths from asthma occur in children from socio-economically disadvantaged backgrounds. These should be prevent...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2018.02.001
更新日期：2018-06-01 00:00:00
abstract：:Since the discovery of the CF gene over a decade ago, several groups worldwide have explored the potential of gene therapy, the insertion of a normal copy of the gene into the respiratory epithelium. Both viral and synthetic gene transfer agents have been designed to this end, although problems with repeat application...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2006.04.214
更新日期：2006-01-01 00:00:00
abstract：:Radiological evaluation of the airway has been used as a screening tool and an adjunct to endoscopy for many years. It provides non-invasive data on the structure of the airway, often avoiding the risk of general anaesthesia. Standard radiographs provide some information on the intricate anatomy of the paediatric airw...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章
doi：10.1053/prrv.2000.0101
更新日期：2001-03-01 00:00:00
abstract：:Parental smoking has an important impact on asthma and wheezing illnesses in infants and children. In utero exposure is associated with impaired lung growth and wheezing illnesses, particularly in preschool children. Exposure to environmental tobacco smoke is associated with increased wheezing illnesses and increased ...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1053/prrv.2001.0141
更新日期：2001-09-01 00:00:00
abstract：:Cystic fibrosis related diabetes (CFRD) is a common complication of cystic fibrosis, caused by a fall in insulin secretion with age in individuals with pancreatic insufficiency. CFRD is associated with worse clinical status and increased mortality. Treatment of CFRD with insulin results in sustained improvements in lu...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章
doi：10.1016/j.prrv.2013.02.002
更新日期：2013-05-01 00:00:00
