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Chorostowska-Wynimko J.,National Institute of Tuberculosis and Lung Diseases
European Respiratory Review | Year: 2015

α1-antitrypsin deficiency (AATD) is a significantly under-recognised autosomal genetic disorder with <10% of affected individuals being clinically diagnosed. Moreover, rigorous genetic epidemiological data regarding AATD are lacking. The majority of findings come from the USA and Western Europe, and no information is available for many countries. To address this concern, an α1- antitrypsin (AAT) laboratory was set up in 2009 at the National Institute of Tuberculosis and Lung Diseases (Warsaw, Poland). In 2010, an AATD screening programme targeting patients with respiratory disorders was initiated in Poland. This targeted survey has provided valuable information regarding AATdeficient genotypes, clinical disease and levels of expertise at the physician level. After 4 years, almost 2500 patients with chronic obstructive pulmonary disorders have been screened and, in this cohort, ∼13% had AATD alleles. In these patients, the detection frequency for S and Z alleles was four times greater, and the frequency of homozygous PI*ZZ was 16 times greater than that of the general population. These results highlight the need to build awareness in the medical community, and the project is currently being extended to cover central Eastern Europe, with the creation of the Central Eastern European Alpha-1 Antitrypsin Network. ©ERS 2015.

Skirecki T.,Medical University of Warsaw | Kawiak J.,Polish Academy of Sciences | Dziedzic D.,National Institute of Tuberculosis and Lung Diseases | Domagala-Kulawik J.,Medical University of Warsaw
Archivum Immunologiae et Therapiae Experimentalis | Year: 2014

Lung tumors are characterized by their high metastatic potential, which is the main cause of therapeutic failure. However, the exact cellular origin of metastasis remains unknown. Since the introduction of the cancer stem cell theory, lung cancer stem cells (LCSCs) have been thought to represent metastasis-founding cells. The current study aimed to evaluate whether LCSCs could be found in the circulation. Expression of the stem cell markers CD133 and EpCAM was confirmed in tumor and normal lung tissue by flow cytometry. Then, this technique was further used to investigate the expression of CD133 and EpCAM in the peripheral blood of 41 patients with primary lung cancer. Putative LCSCs (CD133+EpCAM+) were present in 6/7 tumor samples, and CD133+EpCAM+ cells were identified in the blood samples of 15 patients at a median level of 40/ml of blood. EpCAM+ cells were detected in 60 % of the patients, and the number of these cells was higher in patients with adenocarcinoma than patients with squamous cell carcinoma and was also higher in patients with less advanced disease. Moreover, the frequency of this subpopulation significantly correlated with the circulating level of SSEA-4+ cells. Additionally, CD133+EpCAM- cells were found in 87 % of the patients, and the numbers of these cells were significantly higher in patients with distant metastases and correlated with disease stage. This study confirmed the presence of an LCSC subpopulation with a CD133+EpCAM+ phenotype in the tumors and blood of patients with lung cancer, and these results suggest an important role for CD133 and EpCAM in lung cancer progression and their potential application as novel biomarkers of the disease. © 2013 The Author(s).

Chorostowska-Wynimko J.,National Institute of Tuberculosis and Lung Diseases | Struniawski R.,National Institute of Tuberculosis and Lung Diseases | Sliwinski P.,National Institute of Tuberculosis and Lung Diseases | Wajda B.,University of Gdansk
COPD: Journal of Chronic Obstructive Pulmonary Disease | Year: 2015

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%). Therefore, the registry has proved instrumental in setting-up the AATD-dedicated network of respiratory medical centres in Poland. Since augmentation therapy is not reimbursed in our country, the smoking cessation guidance, optimal pharmacotherapy of respiratory symptoms as well the early detection, and effective treatment of exacerbations is absolutely essential. © Informa Healthcare USA, Inc.

Kopinski P.,Nicolaus Copernicus University | Gizycka A.,National Institute of Tuberculosis and Lung Diseases | Chorostowska-Wynimko J.,National Institute of Tuberculosis and Lung Diseases
Polski Merkuriusz Lekarski | Year: 2014

Recent reports prove the necessity to modify the classical definitions of cell death. The canonical distinction between apoptosis (defined as programed cell death - PCD) and necrosis (gene independent) in no longer scientifically valid. Furthermore, more than one process mediated by intracellular genetic program has been documented, for example programmed necrosis. Diversity in definitions leads to confusion, particularly regarding specific terminology. Here we present the new unified criteria for the evaluation of cell death mechanisms as proposed by the Nomenclature Committee on Cell Death in recommendations from 2009 and 2012.

Szpechcinski A.,National Diagnostics | Chorostowska-Wynimko J.,National Diagnostics | Kupis W.,National Institute of Tuberculosis and Lung Diseases | Maszkowska-Kopij K.,National Institute of Tuberculosis and Lung Diseases | And 3 more authors.
Expert Opinion on Biological Therapy | Year: 2012

Objective: Minute amounts of free-circulating DNA are present in plasma of healthy individuals, whereas its increased concentration was observed in patients with malignant tumors including non-small cell lung cancer (NSCLC). This study aimed at demonstrating the potential usefulness of plasma DNA concentration monitoring in NSCLC patients for therapy effectiveness assessment throughout the treatment and follow-up period. Methods: Plasma DNA concentration was assessed in 50 NSCLC patients (stage I IIIA) prior and following the radical treatment using real-time quantitative PCR method. 10 orthopedic patient undergoing hip joint surgery and 40 healthy volunteers comprised control groups. Results: NSCLC patients (8.02 ng/ml) demonstrated significantly higher mean plasma DNA concentration with respect to healthy controls (2.27 ng/ml; p < 0.0000). Drastic increase in plasma DNA levels up to mean 68.74 ng/ml was detected a week after primary tumor resection. Still, similar phenomenon was observed in patients subjected to orthopedic surgical treatment (from 3.00 to 28.38 ng/ml, p < 0.0015). Most resected NSCLC patients with no disease recurrence during 3- to 6-month follow-up demonstrated reduced plasma DNA levels (mean 2.77 ng/ml) with respect to their presurgical values, whereas in relapsed subjects plasma DNA levels were significant higher. Conclusion: Free-circulating DNA concentration in plasma was significantly higher in NSCLC patients versus healthy controls. Its drastic increase following radical NSCLC treatment was most likely due to the surgical trauma. Importantly, the kinetics of plasma free-circulating DNA seems to be a promising marker of long-term effects of radical surgery in NSCLC. © 2012 Informa UK, Ltd.

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