Antithrombin activities in 30 severely malnourished children and 40 normal children were estimated in clotting tests by thrombin neutralisation as anti-Xa and by a heparin antithrombin assay; and by immunodiffusion as alpha 2-globulin and alpha 1-antitrypsin. The patients' mean alpha 2-globulin was severely depressed, and there were less marked depletions in mean values for thrombin neutralisat...

?1-antitrypsin deficiency is characterised by the misfolding and intracellular polymerisation of mutant protein within endoplasmic reticulum (ER) hepatocytes. Small molecules that bind stabilise Z were identified via a DNA-encoded library screen. A subsequent structure based optimisation led to series highly potent, selective cellular active correctors.

A patient with a low serum concentration of alpha1-antitrypsin (0-1 g/l) but with an M-like phenotype is described. Her parents and 2 sibs have a PIM phenotype, but all except the father have approximately half-normal levels of alpha1-antitrypsin: The M-like variant apparently cannot be distinguished from M-alpha1-antitrypsin, when it occurs with M in heterozygotes. The proposita has severe air...

In a three generation family with 27 members we examined a relationship could be found between spontaneous pneumothorax and HLA-haplotypes, alpha 1-antitrypsin phenotypes or concentration or lung volumes and ventilatory capacity. Eight individuals in the family suffered from spontaneous pneumothorax. No relationship with the investigated markers could be found in this informative family. All pa...

Many diseases may present as acute hepatic failure in the pediatric age group, including viral hepatitis A and B, adverse drug reactions, both toxic and "hepatitic," and inherited metabolic disorders such as tyrosinemia, alpha 1 antitrypsin deficiency, and Wilson's disease. Management is primarily supportive, with care taken to anticipate the known complications of hepatic failure. Few "curativ...

We welcome the cross-sectional, observational, case-finding study on alpha-1 antitrypsin deficiency (AATD) in 1002 individuals with COPD conducted by Sorroche et al. in Buenos Aires. This is the first study of its kind in Argentina.1 The authors set out to identify all genotypes associated with severe AATD (namely, Pi*ZZ and Pi*SZ) using an effective screening technique based on the quantificat...

Allele-specific oligonucleotides are used widely for the detection of single point mutations in genes. A modification of this assay based on competition has been developed for detection of the Z mutation of alpha 1-antitrypsin (alpha 1-AT). The normal alpha 1-AT allele is referred to as M, and the Z mutation arises from a single base substitution. Amplified DNA products corresponding to homozyg...

INTRODUCTION Alpha-1 antitrypsin deficiency (AATD) remains an underdiagnosed condition despite initiatives developed to increase awareness. The objective was to describe the current situation of the diagnosis of AATD in primary care (PC) in Catalonia, Spain. METHODS We performed a population-based study with data from the Information System for Development in Research in Primary Care, a popul...