The national alpha-1 antitrypsin deficiency registry in Poland.

The alpha-1 antitrypsin deficiency (AATD) targeted screening program, together with the National Registry, were established in Poland in 2010 soon after the AATD diagnostics became available. Between 2010 and 2014 a total of 2525 samples were collected from respiratory patients countrywide; 55 patients with severe AAT deficiency or rare mutations were identified and registered, including 36 PiZZ subjects (65%). The majority of AATD patients were diagnosed with COPD (40%) or emphysema (7%), but also with bronchial asthma (16%) and bronchiectasis (13%).

Incidence of alpha-1 antitrypsin Z and S alleles in patients with granulomatosis with polyangiitis--pilot study.

Introduction: Inherited alpha-1 antitrypsin (AAT) deficiency is one of the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease. It has also been suggested that AAT deficiency might be instrumental vasculitis associated with the anti-neutrophil cytoplasm antibodies (cANCA) and subsequent lung tissue injury.

Heterozygous α1‑antitrypsin deficiency in liver transplant candidates.

Introduction: It is estimated that in about 1% of all liver transplant candidates liver cirrhosis is caused by hereditary homozygous α1‑antitrypsin (AAT) deficiency.

Objectives: The aim of the study was to evaluate the role of heterozygous AAT deficiency in the development of liver cirrhosis leading to liver transplantation.

Patients And Methods: In the years 2009-2011, we conducted a prospective study of 304 consecutive patients (men, 57%) scheduled for orthotopic liver transplantation.

[The incidence of alpha-1-antitrypsin (A1AT) deficiency alleles in population of Central Poland--preliminary results from newborn screening].

Inherited alpha-1 antitrypsin deficiency (A1ATD) is listed among the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease. Data on the A1ATD prevalence in Poland are scarce, no studies with large enough groups representative for whole Polish population have been performed.

[Cell phenotype determines PAI-1 antiproliferative effect - suppressed proliferation of the lung cancer but not prostate cancer cells].

Introduction: Plasminogen inhibitor activator type 1 (PAI-1) is an important regulator of tumor growth and metastasis formation acting directly via specific urokinase complexing or indirectly due to its affinity to vitronectin. We have shown previously that PAI-1 modifies angiogenic activity of endothelial cells in a dose-dependent manner but also in close relationship to the cell phenotype. Present study aimed on evaluating the PAI-1 effect on the proliferative activity of lung cancer cells (A549), prostate cancer cells (DU145) as well as endothelial cells (HUVEC).

[Angelman syndrome--the research model of epigenetic mechanisms expression genes regulation].

Epigenetics, one of the widely investigated topics in human genetics, refers to phenotypic or gene expression changes caused by specific regulatory mechanisms (eg. DNA methylation, histone proteins modifications, antisense RNA or RNAi expression) that do not involve changes in DNA sequence. The disturbances in epigenetic gene expression regulatory mechanisms might lead to oncogenic transformation as well as monogenic or complex diseases.

[Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR].

Background: Angelman Syndrome (AS) is a neurogenetic disorder associated with aberrant genomic imprinting. AS patients with an imprinting defect have only paternal genes expression pattern despite the normal bi-parental inheritance of chromosome 15. In 2-3% of AS cases, the altered gene expression is a consequence of an imprinting defect (ID) such as microdeletions in imprinting centre (IC).

Accelerated thrombus lysis in the blood of plasminogen activator inhibitor deficient mice is inhibited by PAI-1 with a very long half-life.

Patients with defective plasminogen activator inhibitor protein (PAI-1) or with PAI-1 deficiency can experience hemorrhage as a result of a hyperfibrinolysis. In these patients, a normal thrombus forms, but endogenous lysis is unchecked as tissue plasminogen activator is unopposed. Treatment includes anti-fibrinolytic agents, including oral tranexamic acid.

[Molecular diagnostics of alpha-1-antitrypsin deficiency in clinical practice].

The deficiency of serine protease inhibitor, alpha-1-antitrypsin (AATD), is genetically determined defect that increases the risk of lung and liver disease development. The results of recent epidemiological studies indicate the overwhelming majority of individuals with alpha-1-antitrypsin deficiency still remain undiagnosed. The complete laboratory diagnosis of AATD is based on combination of quantitative and qualitative methods.