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：:The main causes of pleural fluid drainage failure are known to be the formation of fibrin septa, increased viscosity in pleural fluid and inappropriate placement of chest tubes. Reports also tell us that such problems can be solved by using ultrasound as a guide for tube placement and by infusing intrapleural fibrinol...
journal_title：Archivos de bronconeumologia
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更新日期：1996-12-01 00:00:00
abstract：INTRODUCTION:Primary palmar hyperhidrosis (PPH) mainly affects the sympathetic ganglia. This study aims to analyze the histopathological changes in the sympathetic ganglia of patients with PPH. MATERIAL AND METHOD:We studied 55 tissue samples from 35 patients with PPH who underwent T2-T3 gangliectomy for definitive tr...
journal_title：Archivos de bronconeumologia
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abstract：:Alpha-1-antitrypsin deficiency (AATD) is the main genetic factor related to the development of emphysema. This protein has numerous variants, some of which are clinically relevant because their anomalous conformation implies that they fail to reach the target organs as they are polymerized in the hepatocyte. The main ...
journal_title：Archivos de bronconeumologia
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abstract：BACKGROUND:One-year survival in lung transplant is around 85%, but this figure has not increased in recent years, in spite of technical improvements. METHODS:Retrospective, multicenter cohort study. Data from 272 eligible adults with lung transplant were recorded at 7 intensive care units (ICU) in Spain in 2013. The o...
journal_title：Archivos de bronconeumologia
pub_type： 杂志文章,多中心研究
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abstract：:In 2008, the Spanish Society of Pulmonology (SEPAR) published the first guidelines in the world on the diagnosis and treatment of bronchiectasis. Almost 10 years later, considerable scientific advances have been made in both the treatment and the evaluation and diagnosis of this disease, and the original guidelines ha...
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abstract：:The clinical usefulness of simple exercise tests in patients with chronic obstructive pulmonary disease (COPD) continues to give rise to debate. Questions remain about whether these tests assess maximum effort or only exercise tolerance (submaximal effort). To determine the levels of stress reached during the six-minu...
journal_title：Archivos de bronconeumologia
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doi：10.1016/s0300-2896(01)75017-x
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abstract：:In non-small cell lung cancer, the EGFR gene mutations identify a patient sub-population with different clinical characteristics and treatment responses to those that do not have these mutations. There are mutations that derive in increased sensitive to EGFR targeted therapy, as well as mutations that result in resist...
journal_title：Archivos de bronconeumologia
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journal_title：Archivos de bronconeumologia
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更新日期：2016-09-01 00:00:00
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journal_title：Archivos de bronconeumologia
pub_type： 杂志文章,多中心研究
doi：
更新日期：2000-06-01 00:00:00
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journal_title：Archivos de bronconeumologia
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journal_title：Archivos de bronconeumologia
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doi：10.1016/j.arbres.2020.04.011
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journal_title：Archivos de bronconeumologia
pub_type： 杂志文章
doi：
更新日期：1998-12-01 00:00:00
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journal_title：Archivos de bronconeumologia
pub_type： 杂志文章,评审
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更新日期：2009-01-01 00:00:00
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journal_title：Archivos de bronconeumologia
pub_type： 杂志文章
doi：10.1016/j.arbres.2014.08.003
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journal_title：Archivos de bronconeumologia
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journal_title：Archivos de bronconeumologia
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更新日期：2004-04-01 00:00:00
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journal_title：Archivos de bronconeumologia
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doi：
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journal_title：Archivos de bronconeumologia
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journal_title：Archivos de bronconeumologia
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journal_title：Archivos de bronconeumologia
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journal_title：Archivos de bronconeumologia
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journal_title：Archivos de bronconeumologia
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pub_type： 临床试验,杂志文章
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journal_title：Archivos de bronconeumologia
pub_type： 杂志文章,评审
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更新日期：2010-04-01 00:00:00
abstract：OBJECTIVE:Kartagener's syndrome (KS) is a clinical variant of primary ciliary dyskinesia involving situs inversus associated with chronic airway infections. The ciliary defect associated with this syndrome is the absence of dynein arms. The aim of this study was to evaluate mucociliary transport and ciliary ultrastruct...
journal_title：Archivos de bronconeumologia
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journal_title：Archivos de bronconeumologia
pub_type： 杂志文章
doi：
更新日期：1995-10-01 00:00:00
abstract：INTRODUCTION:In 1977 silica was listed as a group 1 carcinogen (demonstrated in humans) by the International Agency for Research on Cancer. However, conflicting results from various studies have kept debate alive as to its carcinogenic capacity. The interest of this debate lies in the large number of workers exposed to...
journal_title：Archivos de bronconeumologia
pub_type： 杂志文章
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journal_title：Archivos de bronconeumologia
pub_type： 杂志文章
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更新日期：2004-02-01 00:00:00
