No abstract

No abstract

The SERPINA1 gene is highly polymorphic, with more than 100 variants described in databases. SERPINA1 encodes the alpha-1 antitrypsin (AAT) protein, and severe deficiency of AAT is a major contributor to pulmonary emphysema and liver diseases. In Spanish patients with AAT deficiency, we identified seven new variants of the SERPINA1 gene involving amino acid substitutions in different exons: PiSDonosti (S+Ser14Phe), PiTijarafe (Ile50Asn), PiSevilla (Ala58Asp), PiCadiz (Glu151Lys), PiTarragona (Phe227Cys), PiPuerto Real (Thr249Ala), and PiValencia (Lys328Glu). We examined the characteristics of these variants and the putative association with the disease. Mutant proteins were overexpressed in HEK293T cells, and AAT expression, polymerization, degradation, and secretion, as well as antielastase activity, were analyzed by periodic acid-Schiff staining, Western blotting, pulse-chase, and elastase inhibition assays. When overexpressed, S+S14F, I50N, A58D, F227C, and T249A variants formed intracellular polymers and did not secrete AAT protein. Both the E151K and K328E variants secreted AAT protein and did not form polymers, although K328E showed intracellular retention and reduced antielastase activity. We conclude that deficient variants may be more frequent than previously thought and that their discovery is possible only by the complete sequencing of the gene and subsequent functional characterization. Better knowledge of SERPINA1 variants would improve diagnosis and management of individuals with AAT deficiency.

No abstract

Bronchiolitis obliterans organizing pneumonia (BOOP) is a pulmonary disorder with a wide spectrum of radiological features. We report the case of a 58 year old woman, in whom the radiological appearance was multiple cavitary nodules in both lungs, that responded with a complete resolution after corticosteroid therapy. This finding justifies the inclusion of BOOP in the differential diagnosis of multiple cavitary nodules.

The aim of this study was to determine the following: (a) asbestos body count in lung tissue of different western Mediterranean populations; (b) the association, if any, of urban industrial residence with higher lung tissue asbestos exposure posed for lung cancer in our population. Lung-tissue samples were studied in three groups of subjects from the general population: (1) group A comprised 18 patients from Barcelona's urban industrial area (mean age = 62.2 y, standard deviation [SD] = 13.6); (2) group B comprised 16 patients who lived in a rural area of Albacete in the south of Spain (mean age = 62.2 y, SD = 13.7); and (3) group C comprised 8 patients who had been diagnosed with lung cancer, who lived in or near Barcelona, and who had never been exposed occupationally to asbestos (mean age = 62.1 y, SD = 7.4). A wet lung/dry lung weight ratio was determined. In group A, asbestos bodies were observed in 9 of 18 (50%) subjects, and asbestos bodies numbered 52.35 per g dry lung (SD = 101.72) (upper limit of normality [higher value] = 430.12 asbestos bodies per g dry lung). In group B, asbestos bodies were observed in 2 of 16 (12.5%) subjects, and asbestos bodies numbered 5.37 per g dry lung (SD = 8.79) (upper limit normality = 35.15 asbestos bodies per g dry lung). In group C, we observed asbestos bodies in 2 of 8 subjects (25.0%), and asbestos bodies numbered 20.59 per g dry weight (SD = 24.10).(ABSTRACT TRUNCATED AT 250 WORDS)

The variation of maximal respiratory pressures (Pimax and Pemax) in healthy subjects were studied on the same day in 16 non-smoking healthy men (age 26.2 +/- 3.2 years). The Pimax and Pemax were obtained on three occasions (8 a.m., 2 p.m. and 9 p.m.) within the same day. There were no differences between readings for Pimax and Pemax values.

FABP4 is directly associated with obstructive sleep apnea severity and did not change with continuous positive airway pressure treatment, while FABP5 was not associated with obstructive sleep apnea severity and increased with continuous positive airway pressure treatment. FABP4 and FABP5 have different associations with obstructive sleep apnea. FABP4 but not FABP5 could be considered a marker of metabolic alterations in obstructive sleep apnea patients.