USDA Database

The aim of the study is to evaluate, by using cytogenetic and molecular cytogenetic research methods, the frequency of prenatal trisomies determination of the thirteenth (13), the eighteenth (18), and the twenty first (21) chromosomes for the patients, who during 2007–2011 had genetic consultations in the Hospital of Lithuanian University of Health Sciences Kaunas Clinics and to determine the connection between these trisomies and risk factors. During 2007–2011 1 156 patients were examined and 49 (4.2%) alterations of karyotype were determined, out of which 30 (61%) are related to Down syndrome, 14 (29%) to Edwards syndrome and 5 (10%) to Patau syndrome. After studying the data of questionnaires and case records, on the basis of the statistical reliability of data analysis, the influence of the main reproductive factors (abortions, contraceptives) and other risk or environmental factors (smoking, genetic diseases and use of medicines) to fetal anomalies was determined.

Alpha1-antitrypsin (AAT) deficiency is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of our study was to evaluate predictive value of quantitative methods of alpha-1 antitrypsin for Z mutation detection in patients with chronic obstructive pulmonary disease. Ninety-one AAT deficiency genotypes (40 MZ, 39 MS, 1 SS, 3 SZ and 8 ZZ) were analysed. Calculated sensitivity of quantitative alpha-1 antitrypsin measurement by nephelometry for heterozygous PI*Z allele was 45% and for homozygous ZZ genotype – 88%. Specificity of quantitative alpha-1 antitrypsin analysis for heterozygous deficiency was 98% and for homozygous deficiency – 100%. Thus sensitivity of quantitative alpha- 1 antitrypsin analysis is higher than specificity for both – heterozygous and homozygous deficiency.

Alpha-1 antitrypsin (AAT) is the main circulating serine proteinase inhibitor. A number of studies suggest that AAT can also exhibit biological activity independent of inhibition of serine proteases. The aim of the study was to make experimental investigation of AAT influence on monocytes stimulated by bacterial endotoxyn and to analyze serum AAT concentration in patients with COPD in relation to smoking. Human blood monocytes were isolated from buffy coats. Serum biomarkers from COPD patients and culture supernatants from donors monocytes were analysed using commercial ELISA kits. AAT affects monocyte responses to LPS by regulating soluble CD14 release. Here we show that a short-term (up to 2 h) monocyte exposure to AAT leads to an increase of CD14 levels (p < 0.05). In parallel, a short-term (2 h) cell exposure to AAT significantly enhances TNFα release. However, AAT was found to have a dual effect on LPS-induced TNFα release. Thus, during the first 4 h AAT enhanced, while after 8, 12, 18 and 24 h it inhibited LPS-stimulated TNFα release. COPD smokers and ex-smokers showed higher alpha-1 antitrypsin and C-reactive protein serum concentration than neversmokers (p < 0.05), that may be important for quality of life and health state. Probably a rapid increase in AAT concentrations during various inflammatory and infectious conditions may enhance the magnitude of monocyte responses to endotoxin and subsequently accelerate resolution of the inflammatory reaction.

Kartagener’s syndrome is a rare autosomal recessive genetic disease with progressive damage of the respiratory system and situs inversus. Although the management of patients with Kartagener’s syndrome remains uncertain and evidence is limited, it is important to follow up these patients with an adequate and shared care system. This report presents a clinical case of Kartagener’s syndrome in a 25-year-old woman. Computed tomography showed dextrocardia and bronchiectasis. After 7 years, good treatment results were achieved: radiological findings and lung function were improved. The present case demonstrates the complex interrelationship among genetic variation and a proper nonspecific management of Kartagener’s syndrome.

Alpha 1-antitrypsin deficiency is a genetic risk factor for manifestation of COPD and chronic liver diseases. There is an ongoing worldwide discussion concerning the role of serpins (serine protease inhibitors) in tumour genesis. Protease inhibitors such as alpha 1-antitrypsin have generally been considered to counteract tumour progression and metastases because of their ability to inhibit proteases. In this case report, we analyze relationship between inherited alpha-1 antitrypsin deficiency and chondrosarcoma. A 47-year-old woman was admitted to the hospital with relapse signs of humerus chondrosarcoma. The patient had also a history of COPD. After chest X-ray and CT, alpha 1-antitrypsin deficiency was suspected. Inherited alpha-1 antitrypsin deficiency (PiZZ homozygous genotype) was confirmed. Alpha 1-antitrypsin deficiency might have facilitated the development of chondrosarcoma. Because of low incidence rate of such diseases, we presume that there is a slight chance for such rare disorders to manifest concurrently in the same patient.