Abstract:
INTRODUCTION:The objective of this analysis was the evaluation of a new national circuit used for diagnosing alpha1 antitrypsin deficiency (AATD) based on multiplex technology using online registration and mail posted samples from dried blood spots (DBS) and buccal swabs. METHODS:This is an observational, ongoing study conducted in Spain since March 2018. Samples are coded on a web platform and sent by postal mail to the central laboratory. Allele-specific genotyping for the 14 most common mutations was done with the Luminex 200 Instrument System. Gene sequencing was done if none of the mutations were found and the AAT serum level was <60mg/dl, or by request from the clinician in charge. RESULTS:At the time of the present report, 5803 (92.9%) samples were processed, 4984 (85.9%) from buccal swab and 819 (14.1%) from DBS. The prevalence of the frequent allele combinations were: MS 19.0%, MZ 14.4%, SS 2.9%, SZ 3.7%, and ZZ: 1.4%. Globally, Z carriers represented 20.0% and S carriers 26.6% of this population, with differences seen between regions. 209 (3.6%) were identified carrying rare alleles, 12 (0.2%) carrying null alleles and 14 (0.3%) new mutations were described. Respiratory diseases other than COPD, including poorly controlled asthma or bronchiectasis, also presented AATD mutations. CONCLUSIONS:The availability of a diagnostic system based on the simultaneous testing of 14 genetic variants from buccal swabs or DBS sent by postal mail and with web registration has proven to be useful, and the system can improve the timely diagnosis of AATD.
journal_name
Arch Bronconeumoljournal_title
Archivos de bronconeumologiaauthors
Lopez-Campos JL,Casas-Maldonado F,Torres-Duran M,Medina-Gonzálvez A,Rodriguez-Fidalgo ML,Carrascosa I,Calle M,Osaba L,Rapun N,Drobnic E,Miravitlles Mdoi
10.1016/j.arbres.2020.04.014subject
Has Abstractpub_date
2021-01-01 00:00:00pages
42-50issue
1eissn
0300-2896issn
1579-2129pii
S0300-2896(20)30131-9journal_volume
57pub_type
杂志文章abstract::Postoperative chylothorax after lung resection is a major problem leading to morbidity and mortality and requiring reoperation in a large number of cases. The most advisable and least aggressive option is conservative management in progressive stages: a diet rich in medium-chain fatty acids and/or total parenteral nut...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s1579-2129(06)60357-1
更新日期:2004-10-01 00:00:00
abstract:BACKGROUND:There is comorbidity between respiratory disease and anxiety. In order to measure the anxiety of hospitalized patients it is necessary to use reliable and valid, and preferably short questionnaires. OBJECTIVE:To analyze the reliability and validity of a shortened version of the state subscale of the “State-...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章,多中心研究
doi:10.1016/j.arbres.2010.11.006
更新日期:2011-04-01 00:00:00
abstract::Chest ultrasound, a diagnostic technique used mainly by radiologists, is useful for managing pleural effusion. Sonography and computed tomography (CT) are complementary, although the former is more accessible to clinicians because it is safe and easy to use and because results are available quickly. We evaluated the u...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s0300-2896(03)75376-9
更新日期:2003-06-01 00:00:00
abstract:INTRODUCTION:Failure to rescue (FTR), defined as the mortality rate among patients suffering from postoperative complications, is considered an indicator of the quality of surgical care. The aim of this study was to investigate the risk factors associated with FTR after anatomical lung resections. METHOD:Patients unde...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/j.arbres.2020.04.015
更新日期:2020-05-31 00:00:00
abstract:BACKGROUND:Patients with activating somatic mutations in the Epidermal Growth Factor Receptor (EGFR) have better clinical outcomes when treated with Tyrosine Kinase Inhibitors (TKI) over chemotherapy. However, the impact of the use of TKIs on overall survival outside clinical trials is not well established. OBJECTIVE:...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/j.arbres.2017.07.012
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the prevalence of sleep disorders in patients awaiting kidney transplants compared to a control group. PATIENTS AND METHODS:We carried out an observational study of 23 patients on a kidney transplant waiting list in comparison with 20 healthy volunteers matched for age, sex, and body mass index (...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:
更新日期:2008-07-01 00:00:00
abstract::We proposed to search for markers of hypercoagulable states in function of age, sex or factors that trigger venous thromboembolic disease (VTD) in a group of patients so diagnosed. The following patient data were analyzed: age, sex and triggering factors of VTD categorized as associative-transient, permanent or unknow...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:
更新日期:1999-07-01 00:00:00
abstract::This article reviews the pathophysiology of the latent form of Mycobacterium tuberculosis along with its natural history and progression in infected tissues. The proposed hypotheses regarding the relationship between M tuberculosis and the associated immune response, the cause of granuloma necrosis, the tolerance of a...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章,评审
doi:10.1016/s1579-2129(06)60110-9
更新日期:2006-01-01 00:00:00
abstract:INTRODUCTION:Indications for inhaled corticosteroids (IC) in combination with long-acting bronchodilators (LABD) are well defined in clinical practice guidelines. However, there are some doubts about their efficacy and safety. The aim of this document is to establish an expert consensus to clarify these issues. METHOD...
journal_title:Archivos de bronconeumologia
pub_type: 共识发展会议,杂志文章,实务指引
doi:10.1016/j.arbres.2014.11.001
更新日期:2015-04-01 00:00:00
abstract::Thirty-one patients with pulmonary aspergilloma were studied retrospectively, leading to the following main findings: 1) Men are most often affected (90% of cases). 2) Diagnosis occurs significantly more often when the patient is between 50 to 60 years of age. 3) Aspergilloma originates most often in residual pulmonar...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s0300-2896(15)31014-0
更新日期:1994-11-01 00:00:00
abstract::Chronic obstructive pulmonary disease (COPD) and lung cancer (LC) are prevalent diseases and are a leading cause of morbidity and mortality worldwide. There is strong evidence to show that COPD is an independent risk factor for LC. Chronic inflammation plays a significant pathogenic role in COPD comorbidities, particu...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章,评审
doi:10.1016/j.arbres.2015.07.003
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:To compare automatic and manual analysis of neurological and respiratory variables obtained with the SomnoStar alpha 4100, a 16-channel polysomnographic system. PATIENTS AND METHOD:Twenty-eight patients suspected of obstructive sleep apnea-hypopnea syndrome were enrolled and given conventional polysomnograph...
journal_title:Archivos de bronconeumologia
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0300-2896(03)75452-0
更新日期:2003-12-01 00:00:00
abstract:UNLABELLED:Hospitalizations for acute exacerbation of COPD (AECOPD) generate high consumption of health resources, frequent readmissions and high mortality. The MAG -1 study aims to identify critical points to improve the care process of severe AECOPD requiring hospitalization. METHODS:Observational study, with review...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章,多中心研究
doi:10.1016/j.arbres.2014.06.023
更新日期:2015-10-01 00:00:00
abstract::To check the technical specifications of 5 O2 concentrators pertaining to 5 different brands: Mark 4, Zefir, Puritan-Bennet, Drager and MHF prototype. The concentrators worked continuously for 37 days. External filters were cleaned after 400 hours and measurements were taken when theoretical flows were between 1 and 3...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:
更新日期:1995-10-01 00:00:00
abstract::Infection of the larynx by Candida is rare and usually accompanies lung or disseminated candidiasis. The incidence of isolated laryngeal candidiasis (ILC) is low, although it may be underestimated. We describe 2 patients with ILC confirmed during autopsy: a 45-years-old male with pulmonary fibrosis and a 4-years-old g...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s0300-2896(15)30789-4
更新日期:1996-04-01 00:00:00
abstract::Changes in cell immunity made manifest by decreases in blood levels of CD4 T cells is the main indicator of progressing HIV infection. The decrease in these lymphocytes, as well as in the CD4/CD8 index and increases in suppressant or cytotoxic CD8 cells can be detected in bronchoalveolar (BAL) lung samples. It is not ...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s0300-2896(15)30751-1
更新日期:1996-06-01 00:00:00
abstract::Assessment of alpha 1-antitrypsin replacement therapy (AAT) for emphysema. Patient characteristics were analyzed along with the possible side effects of the treatment and its efficacy in maintaining appropriate AAT blood levels. Lung function changes were also studied. The treatment protocol began with 4 weekly intrav...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s0300-2896(15)30997-2
更新日期:1994-12-01 00:00:00
abstract:INTRODUCTION:Studies on inflammation biomarkers in serum and in exhaled breath condensate (EBC) in obstructive sleep apnea (OSA) have shown conflicting results. The objective of this study is to assess EBC and serum biomarkers in OSA patients at baseline and after continuous positive airway pressure (CPAP) or upper air...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/j.arbres.2014.02.016
更新日期:2014-10-01 00:00:00
abstract:INTRODUCTION:Pulse transit time (PTT) is the time that a pulse wave takes to travel between two different arterial points, and may be useful in estimating blood pressure. This noninvasive technique, which does not add any cost to the procedure, offers the advantage of avoiding 'arousals' during sleep measurement as occ...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/j.arbres.2013.12.001
更新日期:2014-07-01 00:00:00
abstract:OBJECTIVE:Although surgical pulmonary thromboendarterectomy is the treatment of choice for pulmonary hypertension due to chronic thrombotic and/or embolic disease, minimally invasive endovascular techniques such as angioplasty or placement of a metallic stent can provide acceptable results when surgery is not indicated...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s1579-2129(08)60051-8
更新日期:2008-06-01 00:00:00
abstract:BACKGROUND:Tumor necrosis factor alpha (TNF-alpha) has been implicated in loss of muscle mass in chronic obstructive pulmonary disease and other consumptive processes. TNF-alpha production would be related to inflammation arising from pulmonary disease itself or, alternatively, from smoking, and would be carried to the...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s0300-2896(02)75224-1
更新日期:2002-07-01 00:00:00
abstract::The population pyramid is changing due to the increasing longevity of the population, making it a priority to have better knowledge of those diseases that have an increasingly major impact in advanced age. Sleep apnea-hypopnea syndrome (SAHS) affects 15-20% of individuals over 65 years. However, despite this high prev...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章,评审
doi:10.1016/j.arbres.2010.05.003
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVE:To compare the effects of a simple home pulmonary rehabilitation program and an intensive hospital-based program in terms of the exercise tolerance and health-related quality of life (HRQL) of patients with severe chronic obstructive pulmonary disease (COPD). PATIENTS AND METHODS:Patients in this prospective...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章,多中心研究,随机对照试验
doi:
更新日期:2008-10-01 00:00:00
abstract:OBJECTIVE:To study the general characteristics, health perception and limitations of patients with chronic obstructive pulmonary disease (COPD) treated at respiratory clinics at primary care centers staffed by pulmonologists from our hospital service. METHOD:The study was carried out at 5 primary care centers that enr...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s0300-2896(03)75437-4
更新日期:2003-11-01 00:00:00
abstract:BACKGROUND:The non-adherence to tuberculosis treatment is associated with increased infection, antibiotic resistance, increased costs and death. Our objective was to identify factors associated with lack of completion of conventional treatment for tuberculosis in Peru. PATIENTS AND METHODS:An unmatched case-control st...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/j.arbres.2011.12.008
更新日期:2012-05-01 00:00:00
abstract::One-third of the world-wide population currently presents latent tuberculosis infection (LTI). In Spain, TB is situated as the third disease of mandatory notification. The standard technique for the diagnosis of ITL is the tuberculin test (PPD), although its most important drawback is its specificity since the protein...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章,评审
doi:10.1016/j.arbres.2011.06.018
更新日期:2011-10-01 00:00:00
abstract:OBJECTIVE:To assess the effect of adequate outpatient care as defined by guidelines of the Global Initiative for Asthma (GINA) on the long-term outcome of near-fatal asthma. PATIENTS AND METHODS:Fifty-three patients who had experienced a near-fatal attack of asthma were treated according to the GINA guidelines and fol...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:
更新日期:2008-04-01 00:00:00
abstract::Two hundred forty-eight cases of thoracic trauma arriving at our hospital between 1990 and 1992 are analyzed in this report. Injuries were only thoracic in 29% of the cases. The remaining patients presented associated lesions, mainly in the extremities, followed by head injuries. Single or multiple rib fracture, in 19...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/s0300-2896(15)31073-5
更新日期:1994-05-01 00:00:00
abstract::Recently, a number of reports have been published on silicosis in workers exposed to artificial quartz conglomerates containing high levels of crystalline silica particles (70-90%) used in the construction of kitchen and bathroom surfaces. Three cases of silicosis in workers exposed to artificial quartz conglomerates ...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/j.arbres.2014.12.010
更新日期:2015-12-01 00:00:00
abstract:INTRODUCTION:Neuromuscular disease (NMD) patients frequently have impaired cough. Mechanical insufflation-exsufflation (MI-E) has proven efficacy in improving airway clearance, however data related to its long-term home use is lacking. The purpose of this study was to describe indications, safety and compliance of home...
journal_title:Archivos de bronconeumologia
pub_type: 杂志文章
doi:10.1016/j.arbres.2010.04.011
更新日期:2010-08-01 00:00:00