Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency.


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.


Arch Bronconeumol


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 M




Has Abstract


2021-01-01 00:00:00














  • [Comparison between the 1993 and 2002 Guidelines of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) for identifying respiratory events in polysomnography tests].

    abstract:OBJECTIVE:To compare the results of applying both the 1993 and 2002 guidelines of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) to identify respiratory events during nighttime polysomnography tests. PATIENTS AND METHODS:One hundred twenty consecutive patients with medium to high suspicion of sleep ap...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Aguirregomoscorta JI,Altube L,Menéndez I,Romaní A,Basualdo LV,Vallejo G

    更新日期:2005-12-01 00:00:00

  • Can pulse transit time be useful for detecting hypertension in patients in a sleep unit?

    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


    authors: Gómez García MT,Troncoso Acevedo MF,Rodriguez Guzmán M,Alegre de Montaner R,Fernández Fernández B,del Río Camacho G,González-Mangado N

    更新日期:2014-07-01 00:00:00

  • [Diseases of the diaphragm].

    abstract::The diaphragm is the main muscle involved in ventilation and is supplied exclusively by the phrenic nerves. Congenital defects of the diaphragm muscle or phrenic nerve injury cause diaphragmatic paralysis-eventration. Prognosis and treatment depend on whether involvement is unilateral or bilateral and on the patient's...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章,评审


    authors: León-Atance P,Martínez-Hernández NJ,Milla-Saba AM,Roca-Fernández J

    更新日期:2011-01-01 00:00:00

  • [Description of a sample of patients with chronic obstructive pulmonary disease treated at hospital-supervised respiratory clinics at primary care centers].

    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


    authors: Esteban C,Moraza J,Aburto M,Quintana JM,Capelastegui A

    更新日期:2003-11-01 00:00:00

  • Extraskeletal Ewing's sarcoma presenting as a posterior mediastinal mass.

    abstract::The Ewing's sarcoma family of tumors is an uncommon group of malignant neoplasms that may be located in both skeletal and extraskeletal regions. Extraskeletal Ewing's sarcoma (EES) is quite rare and predominantly involves the soft tissues of the trunk or the extremities. Herein, we report the case of a 19-year-old fem...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Halefoglu AM

    更新日期:2013-02-01 00:00:00

  • IgG4-Related Lung Disease - Three Untreated Cases with a Benign Outcome.

    abstract::IgG4-related disease is a fibroinflammatory disease in which the organs involved share similar pathological findings. Chest disease has been recently clinically and radiologically characterized. Most reports advocate prompt immunosuppressive therapy and describe a fast and good response. We report 3 cases of untreated...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Baltaxe E,Shulimzon T,Lieberman S,Rozenman J,Perelman M,Segel MJ

    更新日期:2016-01-01 00:00:00

  • Primary ciliary dyskinesia: clinical criteria indicating ultrastructural studies.

    abstract:INTRODUCTION:Primary ciliary dyskinesia (PCD) is a congenital disease characterized by impaired ciliary function, which involves a wide range of symptoms that are mainly respiratory. Recent articles that base diagnosis on ciliary ultrastructural studies have estimated its prevalence to be 1/10,000 newborns, which is hi...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Busquets RM,Caballero-Rabasco MA,Velasco M,Lloreta J,García-Algar Ó

    更新日期:2013-03-01 00:00:00

  • Prevalence and Perception of 24-Hour Symptom Patterns in Patients With Stable Chronic Obstructive Pulmonary Disease in Spain.

    abstract:INTRODUCTION:Few studies have examined the 24-hour symptom profile in patients with chronic obstructive pulmonary disease (COPD). The main objective of this study was to determine daily variations in the symptoms of patients with stable COPD in Spain, compared with other European countries. METHODS:Observational study...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章,多中心研究


    authors: Soler-Cataluña JJ,Sauleda J,Valdés L,Marín P,Agüero R,Pérez M,Miravitlles M

    更新日期:2016-06-01 00:00:00

  • Non-Tuberculous Mycobacteria. An Emerging Threat?

    abstract:INTRODUCTION AND OBJECTIVE:Non-tuberculous mycobacteria (NTM) isolates are becoming more common. The main objective of our study was to establish the number and diversity of NTM species in our region and their distribution according to the source sample, age and gender of the patients, and to analyse clinically signifi...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Martínez González S,Cano Cortés A,Sota Yoldi LA,García García JM,Alba Álvarez LM,Palacios Gutiérrez JJ,en representación de la Red de Laboratorios de Microbiología del SESPA.

    更新日期:2017-10-01 00:00:00

  • "Correct use of inhaled corticosteroids in chronic obstructive pulmonary disease": a consensus document.

    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


    authors: Alcázar Navarrete B,Casanova C,Miravitlles M,de Lucas P,Riesco JA,Rodríguez González-Moro JM,Working Group “Consensus document on the appropriate use of inhaled corticosteroids in COPD”.

    更新日期:2015-04-01 00:00:00

  • [Chronic obstructive pulmonary disease: evaluation of exercise tolerance using three different exercise tests].

    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

    pub_type: 杂志文章


    authors: Montes de Oca M,Ortega Balza M,Lezama J,López JM

    更新日期:2001-02-01 00:00:00

  • [Effects of nasal continuous positive airway pressure on lung function in patients with sleep obstructive apnea syndrome].

    abstract::Sixty-one patients with obstructive sleep apnea syndrome (OSAS), 26 of whom also had chronic obstructive pulmonary disease (COPD), received treatment by nasal continuous positive airways pressure (nCPAP). To evaluate the effects of this device on daytime lung function, we analyzed pulmonary function tests before treat...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Vázquez Oliva R,Cano Gómez S,Capote Gil F,Sánchez Armengol MA,Carmona Bernal C,Castillo Gómez J

    更新日期:1995-01-01 00:00:00

  • Experience and development of the video-assisted thoracic surgery lobectomy technique: comparative study with conventional surgery in stage I non-small cell lung cancer.

    abstract:BACKGROUND:Surgical treatment of stage I non-small cell lung cancer (NSCLC) can be performed either by thoracotomy or by employing video-assisted thoracic surgery (VATS). The aim of this study was to compare long and short-term results of conventional surgery (CS) vs. VATS lobectomy in the treatment of stage I NSCLC. ...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Triviño A,Congregado M,Loscertales J,Jiménez-Merchán R,Pinos-Vélez N,Cózar F,Carmona-Soto P

    更新日期:2014-02-01 00:00:00

  • [The search for clinical markers of abnormal hypercoagulable states among factors that trigger venous thromboembolic disease].

    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


    authors: Otero Candelera R,Arenas Gordillo M,Hurtado Ayuso JE,Morales R,Monedero M,Digon J

    更新日期:1999-07-01 00:00:00

  • Spanish Compliance With Guidelines for Prescribing Four Drugs in the Intensive Phase of Standard Tuberculosis Treatment.

    abstract:INTRODUCTION:International and Spanish guidelines recommend a 4-drug regimen in the intensive treatment of tuberculosis (TB). The aim of our study was to determine if these recommendations are followed in Spain, and the factors associated with the use of 3 drugs (standard regimen without ethambutol). METHODOLOGY:Obser...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章,多中心研究


    authors: García-García JM,Rodrigo T,Casals M,Ruiz-Manzano J,Pascual-Pascual T,Caylà JA,Grupo de Trabajo del Programa Integrado de Investigación en Tuberculosis (PIITB).

    更新日期:2016-05-01 00:00:00

  • [Costs of chronic obstructive pulmonary disease in Spain. Estimation from a population-based study].

    abstract:OBJECTIVE:In the studies carried out to date, the cost of chronic obstructive pulmonary disease (COPD) may have been overestimated due to the inclusion of previously diagnosed patients seeking medical attention for their symptoms. As a result, the severity of the cases included in these studies may have been greater th...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Masa JF,Sobradillo V,Villasante C,Jiménez-Ruiz CA,Fernández-Fau L,Viejo JL,Miravitlles M

    更新日期:2004-02-01 00:00:00

  • Associations of IL-2 and IL-4 Expression and Polymorphisms With the Risks of Mycoplasma pneumoniae Infection and Asthma in Children.

    abstract:INTRODUCTION:Asthma is an inflammatory disorder of the airways and the symptoms of asthma could be exacerbated by Mycoplasma pneumoniae infection. Interleukin-2 and interleukin-4 have been implicated in immune and inflammatory reactions. We examined the associations of IL2 and IL4 polymorphisms and expression with the ...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Wang RS,Jin HX,Shang SQ,Liu XY,Chen SJ,Jin ZB

    更新日期:2015-11-01 00:00:00

  • [A morphometric model of hypersensitivity pneumonitis in the aging rat].

    abstract::Our objective was to develop an experimental model of hypersensitivity pneumonitis in the aging rat. The following hypothesis was proposed: hypersensitivity pneumonitis in the aging rat will be evident in alterations in cells harvested by bronchoalveolar lavage (BAL) and in an increase in alveolar interstitial tissue....

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Escolar JD,Alfaro E,Roche PA,Almajano C,Gallego B

    更新日期:1995-06-01 00:00:00

  • Manual Versus Digital Aspiration for First-Line Treatment of Primary Spontaneous Pneumothorax. The AMVADI Study: A Randomized Clinical Trial.

    abstract:INTRODUCTION:The effectiveness of needle aspiration in the initial treatment of primary spontaneous pneumothorax has been widely studied. The objective of this research was to compare digital with manual aspiration in a randomized clinical trial. METHODS:We designed a blinded parallel-group randomized clinical trial w...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Aguinagalde B,Zabaleta J,Fernández-Monge A,Lopez I,Izquierdo JM,Redin JA,López D,Emparanza JI

    更新日期:2020-10-01 00:00:00

  • [Use of gene therapy in a subcutaneous murine model of lung cancer].

    abstract:OBJECTIVE:To assess the effectiveness of in vivo gene therapy to treat subcutaneous tumors generated from murine lung cancer cells. MATERIAL AND METHODS:C57BL/6 mice received subcutaneus injections of 5 x 105 cells from the murine Lewis lung cancer cell line. By 10 days, subcutaneous tumors of approximately 5 mm diame...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Rodrigo Garzón M,Tirapu Fernández de la Cuesta I,Arina Iraeta A,Centelles Llorente MN,Zulueta Francés J

    更新日期:2006-10-01 00:00:00

  • [Pneumocephalus and cerebrospinal fluid fistula following removal of a superior sulcus tumor (pancoast tumor)].

    abstract::Pneumocephalus resulting from a subarachnoid-pleural fistula following resection of a pulmonary neoplasm is a very rare postoperative complication: we have found only 17 cases in the literature. We report the case of a 65-year-old man diagnosed with a superior sulcus tumor who underwent a left upper lobectomy and cost...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: de Olaiz Navarro B,León Atance P,Alix Trueba A

    更新日期:2004-09-01 00:00:00

  • [Quality of life in asthma: reliability and validity of the short form generic questionnaire (SF-36) applied to the population of asthmatics in a public health area].

    abstract:OBJECTIVE:To analyze the reliability and validity of the short form of the generic quality of life scale (SF-36) when used with our asthmatic patients. METHODS:Two hundred nineteen adults with asthma of any etiology and without limits on sex, type or severity of asthma who were being treated at 10 health clinics (Madr...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Espinosa De Los Monteros MJ,Alonso J,Ancochea J,González A

    更新日期:2002-01-01 00:00:00

  • [Acute respiratory distress syndrome caused by pulmonary nocardiosis in a patient with systemic lupus erythematosus].

    abstract::Nocardia is a gram-positive bacillus that infects mainly immunodepressed patients. Its association with lupus erythematosus has been described only occasionally and we have found no reports in the literature of an association between lupus and acute respiratory distress syndrome due to pulmonary nocardiosis. We presen...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Ferreres Franco J,Blanquer Olivas J,Dosdá Muñoz R,Carbonell Monleón N,Moreno Clari E,Pérez Sancho E

    更新日期:2005-05-01 00:00:00

  • Real-time prediction of mediastinal lymph node malignancy by endobronchial ultrasound.

    abstract:OBJECTIVE:To evaluate the utility of different ultrasonographic (US) features in differentiating benign and malignant lymph node (LN) by endobronchial ultrasound (EBUS) and validate a score for real-time clinical application. METHODS:208 mediastinal LN acquired from 141 patients were analyzed. Six different US criteri...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Shafiek H,Fiorentino F,Peralta AD,Serra E,Esteban B,Martinez R,Noguera MA,Moyano P,Sala E,Sauleda J,Cosío BG

    更新日期:2014-06-01 00:00:00

  • [Non-pharmacological prevention of ventilator-associated pneumonia].

    abstract::Ventilator-associated pneumonia (VAP) is the first cause of mortality due to nosocomial infections in the intensive care unit. Its incidence ranges from 9% to 67% of patients on mechanical ventilation. Risk factors are multiple and are associated with prolonged stays in hospital and intensive care units. Additional co...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章,评审


    authors: Díaz LA,Llauradó M,Rello J,Restrepo MI

    更新日期:2010-04-01 00:00:00

  • [Outpatient emergency care in pneumology. A method to alleviate pressure of hospital emergency services].

    abstract::We analyze the result of using a pneumological rapid-attention facility for diagnosis and immediate treatment of patients with respiratory symptoms arriving at the emergency room of University Hospital Virgen del Rocío in Seville (Spain). In the first six months the outpatient service saw 321 patients (male/female rat...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Soto Campos JG,Rodríguez Becerra E,Alvarez Gutiérrez FJ,Valenzuela Mateo F,Peñafiel Colás M,Castillo Gómez J

    更新日期:1997-06-01 00:00:00

  • Activating and resistance mutations of the epidermal growth factor receptor (EGFR) gene and non-small cell lung cancer: a clinical reality.

    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

    pub_type: 杂志文章


    authors: Taus A,Vollmer I,Arriola E

    更新日期:2011-02-01 00:00:00

  • Treatment of bronchus intermedius stenosis in lung transplantation with Montgomery T-tube stent. A novel technique.

    abstract::Airway complications after lung transplant are relatively common although the rates vary according to the different studies. Pathogenesis is diverse but the principal mechanism is usually bronchus intermedius ischemia in the post-transplant period. One major complication is bronchial stenosis, with relatively frequent...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章


    authors: Pinillos Robles J,García Luján R,de Pablo Gafas A,de Miguel Poch E

    更新日期:2015-02-01 00:00:00

  • Comparison of intermittent positive pressure breathing and temporary positive expiratory pressure in patients with severe chronic obstructive pulmonary disease.

    abstract:BACKGROUND:Results supporting the use and the effectiveness of positive expiratory, pressure devices in chronic obstructive pulmonary disease (COPD) patients are still controversial, We have tested the hypothesis that adding TPEP or IPPB to standard pharmacological therapy may provide additional clinical benefit over, ...

    journal_title:Archivos de bronconeumologia

    pub_type: 杂志文章,随机对照试验


    authors: Nicolini A,Mollar E,Grecchi B,Landucci N

    更新日期:2014-01-01 00:00:00

  • [COPD and alpha-1-antitrypsin deficiency].

    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

    pub_type: 杂志文章


    authors: Lara B

    更新日期:2010-01-01 00:00:00