α1-Antitrypsin level in patients with spontaneous pneumothorax

α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.

We report a case of spontaneous familial pneumothorax in fraternal twin boys. The twins' family history is remarkable for reactive airway disease and a female sibling also born with spontaneous pneumothorax. The family had no history of connective tissue disorders, renal cancer, or dermatologic diseases. Analysis of the twins' α(1)-antitrypsin (AAT) genotype, phenotype, and serum concentration ...

Electrocardiographic changes in patients with spontaneous pneumothorax.

The aim of the study was to evaluate the prevalence of electrocardiography (ECG) abnormalities in subjects with spontaneous pneumothorax. Forty consecutive patients (mean age 43.7 +/-19.1 years) with spontaneous pneumothorax participated in the study. There were 22 cases of left-sided and 18 cases of right-sided pneumothorax. The mean relative volume of pneumothorax was 51.4 +/-24.7% according ...

α1-Antitrypsin deficiency: count me in please!

Respiratory medicine is facing formidable challenges in the 21st century. Indeed, most respiratory medical research is becoming interconnected, translational and transnational, all embedded within so-called “planetary health” [1]. However, renewing estimates and trends from classical, descriptive epidemiology, including how many patients of a given condition are around, and how many are expecte...

Circulating polymers in α1-antitrypsin deficiency.

Most individuals carry two wild-type M alleles of the SERPINA1 gene which encodes a1-antitrypsin. 95% of severe deficiency of a1-antitrypsin is associated with the Z allele (Glu342Lys; denoted PiZZ in the homozygote), and with the retention and polymerisation of a1-antitrypsin within hepatocytes [1]. These polymers are contained within periodic acid–Schiff-positive, diastase-resistant inclusion...

Ventilation inhomogeneity in α1-antitrypsin deficient emphysema