Browsing by Author "Pešut, D. (55187519500)"

Several host genes proven to contribute to active tuberculosis (TB) and some of the localized major susceptibility loci, which influence lung cancer (LC) risk, are of considerable scientific interest, but do not confer high enough risk to be clinically relevant. Assuming that these diseases are genetically controlled, we hypothesized that retreat from optimal homozygosity level, as well as a changed variability among the patients, could be the populationgenetic parameter for prediction of illness. We performed a homozygous-recessive-characters (HRCs) test based analysis of the presence, distribution and individual combination of 23 selected genetically-controlled morpho-physiological traits in groups of LC patients, patients with pulmonary TB and healthy control subjects. This study showed: i) a statistically significant difference of the middle values of genetic homozygosity between both patients groups and the control group, ii) differences in the type of distribution, and iii) differences in the presence of certain individual combinations of such traits. The frequency of blood group O was significantly decreased in the TB group compared to the general population. According to their population-genetic structure, LC patients, TB patients and healthy controls represent three different groups. The retreat from optimal homozygosity level towards decrease that we found in both LC and TB patients support the influence of a dominant factor in development of these diseases.

Several host genes proven to contribute to active tuberculosis (TB) and some of the localized major susceptibility loci, which influence lung cancer (LC) risk, are of considerable scientific interest, but do not confer high enough risk to be clinically relevant. Assuming that these diseases are genetically controlled, we hypothesized that retreat from optimal homozygosity level, as well as a changed variability among the patients, could be the populationgenetic parameter for prediction of illness. We performed a homozygous-recessive-characters (HRCs) test based analysis of the presence, distribution and individual combination of 23 selected genetically-controlled morpho-physiological traits in groups of LC patients, patients with pulmonary TB and healthy control subjects. This study showed: i) a statistically significant difference of the middle values of genetic homozygosity between both patients groups and the control group, ii) differences in the type of distribution, and iii) differences in the presence of certain individual combinations of such traits. The frequency of blood group O was significantly decreased in the TB group compared to the general population. According to their population-genetic structure, LC patients, TB patients and healthy controls represent three different groups. The retreat from optimal homozygosity level towards decrease that we found in both LC and TB patients support the influence of a dominant factor in development of these diseases.

Diagnosis of pulmonary thromboembolism (PTE) usually includes clinical pretest probability assessment, testing for specific degradation products of cross-linked fibrin (D-dimer) and imaging studies. Patients with radiological findings attributable to pulmonary infarction and normal D-dimer level, may present a diagnostic and therapeutic challenge. A 37-year-old Caucasian female had episodes of hemoptysis, and bilateral pulmonary nodular infiltrates on chest radiograph and computerized tomography. The plasma D-dimer level was normal, perfusion lung scan was not conclusive and histological examination of an open lung biopsy revealed recent thrombotic pulmonary infarction. She deteriorated and more perfusion defects were detected on perfusion lung scan. Genetic analysis revealed her to be a carrier of the prothrombin factor II (FII) G20210A mutation.

Diagnosis of pulmonary thromboembolism (PTE) usually includes clinical pretest probability assessment, testing for specific degradation products of cross-linked fibrin (D-dimer) and imaging studies. Patients with radiological findings attributable to pulmonary infarction and normal D-dimer level, may present a diagnostic and therapeutic challenge. A 37-year-old Caucasian female had episodes of hemoptysis, and bilateral pulmonary nodular infiltrates on chest radiograph and computerized tomography. The plasma D-dimer level was normal, perfusion lung scan was not conclusive and histological examination of an open lung biopsy revealed recent thrombotic pulmonary infarction. She deteriorated and more perfusion defects were detected on perfusion lung scan. Genetic analysis revealed her to be a carrier of the prothrombin factor II (FII) G20210A mutation.