[Screening for alpha1-antitrypsin deficiency using dried blood spot: Assessment of the first 20 months]. / Dépistage du déficit en alpha1-antitrypsine sur sang capillaire recueilli sur papier-filtre : bilan des 20 premiers mois.

INTRODUCTION: Alpha1-antitrypsin deficiency is a predisposing factor for pulmonary disease and under-diagnosis is a significant problem. The results of a targeted screening in patients with respiratory symptoms possibly indicative of severe deficiency are reported here. METHODS: Data were collected from March 2016 to October 2017 on patients who had a capillary blood sample collected during a consultation with a pulmonologist and sent to the laboratory for processing to determine alpha1-antitrypsin concentration, phenotype and possibly genotype. RESULTS: In 20 months, 3728 test kits were requested by 566 pulmonologists and 718 (19 %) specimens sent: among these, 708 were analyzable and 613 were accompanied by clinical information. Of the 708 samples, 70 % had no phenotype associated with quantitative alpha1- antitrypsin deficiency, 7 % had a phenotype associated with a severe deficiency and 23 % had a phenotype associated with an intermediate deficiency. One hundred and eight patients carried at least one PI*Z allele which is considered to be a risk factor for liver disease. CONCLUSIONS: The results of this targeted screening program for alpha1- antitrypsin deficiency using a dried capillary blood sample reflect improvement in early diagnosis of this deficiency in lung disease with good adherence of the pulmonologists to this awareness campaign.

Polycyclic aromatic hydrocarbon coated onto Fe(2)O(3) particles: assessment of cellular membrane damage and antioxidant system disruption in human epithelial lung cells (L132) in culture.

The aim of this study was to investigate the oxidative effects of Fe(2)O(3), benzo(a)pyrene (B(a)P) and pyrene, alone or in association (B(a)P or pyrene coated onto Fe(2)O(3) particles), in normal human embryonic lung epithelial cells (L132) in culture. We evaluated: (i) membrane integrity, through fatty acid release (stearic acid, oleic acid, linoleic and linolenic acids, homolinolenic acid, arachidonic acid) and malondialdehyde (MDA) production; and (ii) antioxidant status, through enzymatic and non-enzymatic antioxidant defenses (superoxide dismutase (SOD), glutathione peroxidase (GPx), glutathione reductase (GR), glutathione status, beta-carotene). Fe(2)O(3) did not induce any change in L132 cells. In pyrene-treated cells, SOD induction (P<0. 05), glutathione oxidation (P<0.05) and beta-carotene consumption (P<0.001) may counteract free radicals (FR)-induced damage. However, in B(a)P-incubated cells, SOD inactivation (P<0.05), GR increases (P<0.05), glutathione oxidation (P<0.05) and beta-carotene decreases (P<0.001) showed high disruption of antioxidants, thereby allowing FR-induced damage (i.e. arachidonic acid release, P<0.01; MDA production, P<0.01). Our main finding was that both associations caused higher FR-induced damage (i.e. MDA production, P<0.001; SOD inactivation, P<0.01) than either chemical alone. Several mechanisms could account for this result: enhanced uptake of Fe(2)O(3) particles and/or greater availability of polycyclic aromatic hydrocarbons (PAHs). We hypothesized also that Fe(2)O(3) and polycyclic aromatic hydrocarbons are more deleterious by virtue of their associations being able to produce higher oxidative effects than either chemical alone.