Abstract:
INTRODUCTION:Cystic Fibrosis is among the first diseases to have general population genetic screening tests and one of the most common indications of prenatal and preimplantation genetic diagnosis for single gene disorders. During the past twenty years, thanks to the evolution of diagnostic techniques, our knowledge of CFTR genetics and pathophysiological mechanisms involved in cystic fibrosis has significantly improved. Areas covered: Sanger sequencing and quantitative methods greatly contributed to the identification of more than 2,000 sequence variations reported worldwide in the CFTR gene. We are now entering a new technological age with the generalization of high throughput approaches such as Next Generation Sequencing and Droplet Digital PCR technologies in diagnostics laboratories. These powerful technologies open up new perspectives for scanning the entire CFTR locus, exploring modifier factors that possibly influence the clinical evolution of patients, and for preimplantation and prenatal diagnosis. Expert commentary: Such breakthroughs would, however, require powerful bioinformatics tools and relevant functional tests of variants for analysis and interpretation of the resulting data. Ultimately, an optimal use of all those resources may improve patient care and therapeutic decision-making.
journal_name
Expert Rev Respir Medjournal_title
Expert review of respiratory medicineauthors
Bergougnoux A,Taulan-Cadars M,Claustres M,Raynal Cdoi
10.1080/17476348.2018.1457438subject
Has Abstractpub_date
2018-05-01 00:00:00pages
415-426issue
5eissn
1747-6348issn
1747-6356journal_volume
12pub_type
杂志文章,评审abstract::Introduction: Neuromotor control of diaphragm muscle and the recovery of diaphragm activity following spinal cord injury have been narrowly focused on ventilation. By contrast, the understanding of neuromotor control for non-ventilatory expulsive/straining maneuvers (including coughing, defecation, and parturition) is...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1080/17476348.2020.1732822
更新日期:2020-05-01 00:00:00
abstract::Since chronic obstructive pulmonary disease (COPD) has a progressive and major impact on health management, many aspects of this disorder, including development of effective and reliable biomarkers to monitor disease progression, are under intensive investigation. A huge amount of data, accumulated over the years, hav...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1586/ers.13.4
更新日期:2013-04-01 00:00:00
abstract::Although mechanical ventilation (MV) is a life-saving intervention for patients with acute respiratory distress syndrome (ARDS), it can aggravate or cause lung injury, known as ventilator-induced lung injury (VILI). The biophysical characteristics of heterogeneously injured ARDS lungs increase the parenchymal stress a...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1586/ers.10.28
更新日期:2010-06-01 00:00:00
abstract::Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease characterized by persistent airflow limitation. It is the third leading cause of death worldwide, and there are currently no curative strategies for this disease. Many factors contribute to COPD susceptibility, progression and exacerbations. These...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1586/17476348.2013.842468
更新日期:2013-12-01 00:00:00
abstract::Mometasone furoate and formoterol fumarate dihydrate (MF/F) administered via metered-dose inhaler with a dose counter is a new fixed-dose combination of an inhaled corticosteroid and a long-acting β2-agonist indicated for daily maintenance therapy in patients aged ≥12 years with persistent asthma. Randomized, controll...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1586/ers.11.71
更新日期:2011-12-01 00:00:00
abstract:INTRODUCTION:A growing number of immunocompromised (IC) patients with acute hypoxemic respiratory failure (ARF) is admitted to the intensive care unit (ICU) worldwide. Areas covered: This review provides an overview of the current knowledge of the ways to prevent intubation in IC patients with ARF. Expert commentary: S...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2018.1511430
更新日期:2018-10-01 00:00:00
abstract::Introduction: Detection and characterization of pulmonary nodules is an important issue, because the process is the first step in the management of lung cancers.Areas covered: Literature review was performed on May 15 2019 by using the PubMed, US National Library of Medicine National Institutes of Health, and the Nati...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2020.1697853
更新日期:2020-02-01 00:00:00
abstract::Patients suffering from COPD not controlled by a single bronchodilator should be given two bronchodilators with different mechanisms of action. Addition of a LABA to a LAMA induces a larger bronchodilation than that obtained with the LAMA as monotherapy and also improves many patient-reported outcomes. Since the clini...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1586/17476348.2016.1156538
更新日期:2016-04-01 00:00:00
abstract:INTRODUCTION:Lymphangioleiomyomatosis (LAM) is a destructive lung disease affecting primarily women. LAM is caused by inactivating mutations in the tuberous sclerosis complex (TSC) genes, resulting in hyperactivation of mechanistic/mammalian target of rapamycin complex 1 (mTORC1). Over the past five years, there have b...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2018.1409622
更新日期:2018-02-01 00:00:00
abstract::Introduction: The forced expiratory flow between 25% and 75% of forced vital capacity (FEF25-75) is a spirometry parameter that may be useful in many clinical settings. Values <65% of predicted have been defined as abnormal.Areas covered: The current report discusses the clinical value of FEF25-75 in different setting...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2019.1674649
更新日期:2019-12-01 00:00:00
abstract::Owing to the prevalence, the considerable risk of accidents and cardiovascular consequences, optimal treatment of obstructive sleep apnea syndrome is of crucial importance. However, many patients look for alternative conservative or surgical therapies to continuous positive airway pressure to avoid discomfort and loca...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1586/ers.09.12
更新日期:2009-06-01 00:00:00
abstract::Sepsis is a state of systemic inflammation directed at microbes or their toxins in blood or tissues. Nitric oxide (NO) is one of many vasoactive molecules released from a variety of cell types during sepsis. Almost two decades ago, NO emerged as a potential therapeutic target in sepsis. NO produced by the constitutive...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1586/ers.09.39
更新日期:2009-10-01 00:00:00
abstract::The hallmarks of allergic bronchial asthma arise from chronic airway inflammation. Thus, elucidating the mechanisms regulating the maintenance of this chronic inflammatory response is key to understanding asthma pathogenesis. To date, it is not clear whether a predominance of proinflammatory factors or a reduced capac...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1586/17476348.2015.1109452
更新日期:2015-01-01 00:00:00
abstract:INTRODUCTION:Malignant pleural effusion (MPE) is a feature of metastatic cancer associated with significant morbidity and cost. The typical management of MPE is systemic chemotherapy and mechanical intervention. Vascular endothelial growth factor (VEGF), an inducer of vascular permeability, has been shown to mediate fl...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2018.1417042
更新日期:2018-02-01 00:00:00
abstract::Premature infants are at substantial risk for a spectrum of morbidities that are gestational age dependent. Respiratory syncytial virus (RSV) infection is most common in the first two years of life with the highest burden in children aged <6 months. Preterm infants ≤35 weeks' gestation are handicapped by incomplete im...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1586/17476348.2015.1098536
更新日期:2015-01-01 00:00:00
abstract::The airway epithelium is constantly faced with inflammatory and potentially injurious stimuli. Following damage, rapid repair mechanisms involving proliferation and differentiation of resident progenitor and stem cell pools are necessary in order to maintain a protective barrier. In asthma, evidence pointing to a comp...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1586/ers.10.72
更新日期:2010-12-01 00:00:00
abstract:INTRODUCTION:Survival after lung transplantation lags behind outcomes of other solid organ transplants, and complications from lung transplant are the second most common cause of death in cystic fibrosis. Evolving surgical techniques, therapeutics, and perioperative management have improved short-term survival after lu...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2018.1522254
更新日期:2018-11-01 00:00:00
abstract:OBJECTIVE:The aim of this pilot study was to determine the combined effect of vitamin D and omega-3 polyunsaturated fatty acid (PUFA) supplementation on airway function and inflammation in recreational athletes with exercise-induced bronchoconstriction (EIB). METHODS:Ten recreational athletes with EIB participated in ...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1586/17476348.2015.1036032
更新日期:2015-06-01 00:00:00
abstract:INTRODUCTION:Paediatric severe therapy resistant asthma (STRA) affects a very small proportion of all children with asthma, but results in significant morbidity, has a high risk of mortality and utilises approximately half of all healthcare resources for childhood asthma. children with STRA need add-on 'beyond guidelin...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2017.1368391
更新日期:2017-11-01 00:00:00
abstract:INTRODUCTION:Cardiorespiratory physiotherapy is an evidence-based practice that has evolved alongside changes in medical and surgical management, analgesia, the ageing society and increasing comorbidities of our patient populations. Continued research provides the profession with the ability to adapt to meet the changi...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2018.1433034
更新日期:2018-03-01 00:00:00
abstract:INTRODUCTION:The treatment of infection with Mycobacterium tuberculosis in young children is supported by universal policy based on strong rationale and evidence of effectiveness, but has rarely been implemented in tuberculosis endemic countries. Areas covered: This review highlights a number of important recent develo...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2016.1267572
更新日期:2017-01-01 00:00:00
abstract::Lung transplantation has evolved over the past two decades as a well-recognized therapy for patients with end-stage lung diseases. However, lung transplantation has been limited, in part, due to the scarcity of donor lung organs. Previously, donor lung organs were allocated based on a potential recipient's waiting lis...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1586/17476348.2.4.473
更新日期:2008-08-01 00:00:00
abstract::Chronic airway infection and inflammation are the hallmarks of cystic fibrosis (CF) lung disease. As these events occur early in life, it is critical to develop techniques for the assessment and monitoring of early-CF lung disease in infants and young children. In the last several years, there have been major advances...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1586/17476348.2.3.381
更新日期:2008-06-01 00:00:00
abstract::Introduction: Muscle impairments are prevalent in COPD and have adverse clinical implications in terms of physical performance capacity, disease burden, quality of life and even mortality. During acute exacerbations of COPD (AECOPDs) the respiratory symptoms worsen and this might also apply to the muscle impairments. ...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1080/17476348.2021.1843429
更新日期:2021-01-01 00:00:00
abstract::Conducting clinical trials on pulmonary hypertension in the US and Western Europe has become increasingly difficult and costly because of many challenges. These include a limited patient population that makes recruitment difficult. Recruiting internationally has helped, but can add variability. The choice of end point...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1586/17476348.2015.1074040
更新日期:2015-10-01 00:00:00
abstract::Reslizumab, a neutralizing anti-IL-5 monoclonal antibody, is a promising adjunctive treatment for severe eosinophilic asthma. Monthly intravenous 3.0 mg/kg reslizumab had resulted in improvements in lung function and asthma control. It is well tolerated and common adverse events include headache, nasopharyngitis and u...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1586/17476348.2015.1000867
更新日期:2015-04-01 00:00:00
abstract::Dendritic cells (DCs) are the most potent antigen-presenting cells in the human lung and are now recognized as crucial initiators of immune responses in general. They are arranged as sentinels in a dense surveillance network inside and below the epithelium of the airways and alveoli, where they are ideally situated to...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章
doi:10.1586/17476348.2.2.215
更新日期:2008-04-01 00:00:00
abstract::Introduction: There is an unmet clinical need for improved diagnostic tests for active tuberculosis (TB) to provide high sensitivity for all cases, accelerate time to diagnosis and ensure timely and appropriate treatment. Whilst the measurement of M.tb-specific immune responses is widely used for detecting infection i...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2019.1615888
更新日期:2019-06-01 00:00:00
abstract::Allergic airway disease is a major global health burden, and novel treatment options are urgently needed. Numerous epidemiological and experimental studies suggest that certain helminths and bacteria protect against respiratory allergies. These microorganisms are strong regulators of the immune system, and various pot...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1586/17476348.2014.949244
更新日期:2014-12-01 00:00:00
abstract:INTRODUCTION:Optimal management of malignant pleural effusion (MPE) is important in the care of patients with advanced cancer. Surgical (especially video-assisted thoracoscopic surgery (VATS)) and non-surgical strategies are available. Clinicians should be aware of the evidence supporting the use of different modalitie...
journal_title:Expert review of respiratory medicine
pub_type: 杂志文章,评审
doi:10.1080/17476348.2018.1398085
更新日期:2018-01-01 00:00:00