Abstract:
:We describe two reliable methods for high-throughput screening of proteinase inhibitor (PI) S and PI Z alpha(1)-antitrypsin (alpha(1)-AT) deficiency alleles from dried blood spot (DBS) specimens using the LightCycler fluorimetric analyzer. The method was used to study 72 patients with chronic obstructive pulmonary disease. Results were confirmed with DNA sequencing. The alpha(1)-AT concentration in DBS was determined with immune nephelometry. Sixteen patients (22%) showed no PI Z or PI S mutations. Five patients (7%) had a heterozygous genotype consisting of a PI S allele and a normal allele for the Z and S positions (non-S non-Z). Twenty-five patients (35%) had a heterozygous genotype consisting of a PI Z and a non-S non-Z allele. Two (3%) had the PI SS genotype, 2 (3%) the PI SZ, and 20 (28%) the PI ZZ. All patients with two normal alpha(1)-AT alleles and 10 heterozygous carriers of one normal and one deficient allele had alpha(1)-AT levels that fell within the alpha(1)-AT DBS normal range (1.8-3.1 mg/dl). Two patients with the rare PI MM(malton)- and PI MM(heerlen)-deficient variants showed deficient alpha(1)-AT levels; PI S and PI Z were not detected. Processing 32 samples requires only 40 minutes. This single-step, cost-effective technology is optimal for working with small amounts of DNA, as are present in DBS. The method is suitable for large-scale screening, in cases where PI type is important.
journal_name
Am J Respir Crit Care Medauthors
Rodriguez F,Jardí R,Costa X,Cotrina M,Galimany R,Vidal R,Miravitlles Mdoi
10.1164/rccm.2203025keywords:
subject
Has Abstractpub_date
2002-09-15 00:00:00pages
814-7issue
6eissn
1073-449Xissn
1535-4970journal_volume
166pub_type
杂志文章abstract::There is a need for quick, reliable, and noninvasive lung function tests to assess airway obstruction in preschool children both for pediatric pulmonary care as well as for research purposes. We studied feasibility, reproducibility, and validity of measurements of the respiratory system using the interrupter technique...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.163.6.2005076
更新日期:2001-05-01 00:00:00
abstract::Collapsibility of the active pharynx, where active contraction of the upper airway muscles is evident, was previously reported to be higher in children with obstructive sleep apnea (OSA) than in those with primary snoring during sleep. Contribution of neuromuscular and anatomic factors to the increased collapsibility,...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.157.4.9702042
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abstract:RATIONALE:Patients with acute lung injury have impaired function of the lung surfactant system. Prior clinical trials have shown that treatment with exogenous recombinant surfactant protein C (rSP-C)-based surfactant results in improvement in blood oxygenation and have suggested that treatment of patients with severe d...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2011-04-15 00:00:00
abstract::Chronic beryllium disease (CBD) provides a model system in which to evaluate the antigen-stimulated, cell-mediated, immune response that leads to granulomatous lung disease. We hypothesized that beryllium salts would stimulate bronchoalveolar lavage (BAL) cell release of tumor necrosis factor-alpha (TNF-alpha) and lnt...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.156.6.9610040
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abstract::We surveyed pulmonologists to determine which procedures they do in practice, where they learned the procedures, and how much training they recommend to attain and maintain clinical competence in each. We mailed a survey to a random sample of 1,000 members of the American College of Physicians who were identified as p...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.151.2.7842180
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journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.149.3.8118630
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journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.150.1.8025780
更新日期:1994-07-01 00:00:00
abstract::Interleukin (IL)-2 has a central role in regulating T cell responses to Mycobacterium tuberculosis. Adjunctive immunotherapy with recombinant human IL-2 was studied in a randomized, placebo-controlled, double-blinded trial in 110 human immunodeficiency virus-seronegative adults in whom smear-positive, drug-susceptible...
journal_title:American journal of respiratory and critical care medicine
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2003-07-15 00:00:00
abstract:RATIONALE:Density-based morphometric studies have demonstrated decreased capillary density in infants with bronchopulmonary dysplasia (BPD) and in BPD-like animal models, leading to the prevailing view that microvascular development is disrupted in BPD. OBJECTIVE:To perform a comprehensive analysis of the early and la...
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journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/rccm.2202020
更新日期:2002-10-15 00:00:00
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journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章,评审
doi:10.1164/rccm.200210-1181SO
更新日期:2004-06-15 00:00:00
abstract::Increased serum levels of mucin-associated antigen have been previously demonstrated in patients with cystic fibrosis (CF) and interstitial pneumonia, and in lung-transplant recipients. The present study assessed the serum airway mucin levels in patients with acute respiratory distress syndrome (ARDS). An enzyme-linke...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.156.5.9701061
更新日期:1997-11-01 00:00:00
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journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.154.1.8680670
更新日期:1996-07-01 00:00:00
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journal_title:American journal of respiratory and critical care medicine
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doi:10.1164/rccm.200502-210OC
更新日期:2005-08-15 00:00:00
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journal_title:American journal of respiratory and critical care medicine
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doi:10.1164/rccm.201507-1381OC
更新日期:2016-03-01 00:00:00
abstract::In patients with chronic obstructive pulmonary disease (COPD) the intensity of aerobic training is limited by dyspnea. Improving strength of the inspiratory muscles could enhance aerobic exercise training by reducing exercise-related dyspnea. We examined effects of home-based inspiratory muscle training (IMT) and cycl...
journal_title:American journal of respiratory and critical care medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1164/ajrccm.160.2.9804067
更新日期:1999-08-01 00:00:00
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journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.149.6.8004290
更新日期:1994-06-01 00:00:00
abstract::The role of nutritional status in the prognosis of subjects with severe chronic obstructive pulmonary disease was studied in a cohort of Canadian men and women followed for 3 to 5 yr. A total of 348 subjects who were recruited for a study of negative pressure ventilation were evaluated for lung function and body weigh...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.153.3.8630580
更新日期:1996-03-01 00:00:00
abstract:RATIONALE:Recent studies have suggested that both embryonic stem cells and adult bone marrow stem cells can participate in the regeneration and repair of diseased adult organs, including the lungs. However, the extent of airway epithelial remodeling with adult marrow stem cells is low, and there are no available in viv...
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更新日期:2008-04-01 00:00:00
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更新日期:1994-08-01 00:00:00
abstract:RATIONALE:There is conflicting information about the development and resolution of airway inflammation and airway hyperresponsiveness (AHR) after repeated airway exposure to allergen in sensitized mice. METHODS:Sensitized BALB/c and C57BL/6 mice were exposed to repeated allergen challenge on 3, 7, or 11 occasions. Air...
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更新日期:2006-01-01 00:00:00
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更新日期:2008-06-15 00:00:00
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journal_title:American journal of respiratory and critical care medicine
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abstract::To investigate whether the language of dyspnea provides relevant clinical information in addition to that provided by ratings of overall dyspnea intensity when assessing subjective response to therapy, we conducted a prospective study in a cohort of 25 patients with acute asthma presenting to the emergency department ...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
doi:10.1164/ajrccm.158.3.9707088
更新日期:1998-09-01 00:00:00
abstract::The absence of standardized assessment protocols with well- defined measurement properties limits comparison of outcomes among those receiving long-term oxygen therapy (LTOT). We describe simple protocols for a hospital test, a simulated home test, and an actual home test, their reliability and relationship to each ot...
journal_title:American journal of respiratory and critical care medicine
pub_type: 临床试验,杂志文章
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更新日期:2001-03-01 00:00:00
abstract::This study aimed to compare O2 consumption (VO2) determination by the gas-exchange (VO2GE) and Fick (VO2F) methods in cardiac surgical patients. A total of 10 mechanically ventilated postoperative patients were studied prospectively. Thermodilution was performed using three randomly applied techniques: room temperatur...
journal_title:American journal of respiratory and critical care medicine
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:1994-05-01 00:00:00
abstract::Extracellular matrix metalloproteinase inducer (EMMPRIN), also called basigin, is present in the lung during development, but its expression in normal adult lung is minimal. Increases of EMMPRIN have been found in various forms of experimental lung injury. To determine whether EMMPRIN might be involved in alveolar inj...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章
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更新日期:2003-07-15 00:00:00
abstract::Measurement of cardiac output using thermodilution technique in mechanically ventilated patients is associated with significant morbidity. The goal of the present study was to assess the validity of cardiac output measurement using transesophageal Doppler in critically ill patients. Forty-six patients from three diffe...
journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章,多中心研究
doi:10.1164/ajrccm.158.1.9707031
更新日期:1998-07-01 00:00:00
abstract::Respiratory system compliance (Crs) in infants with cystic fibrosis (CF) has been reported as decreased or not different compared with healthy control subjects; however, the reported measurements of Crs were "quasi-static" or by the single-breath occlusion technique, with all measurements limited to tidal lung volume,...
journal_title:American journal of respiratory and critical care medicine
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更新日期:2004-09-01 00:00:00