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Duška Jović, Snežana Petrović-Tepić, D. Knezevic

Introduction: Asthma is a global health problem that negatively affects various aspects of the quality of a person's life. The aim of the study was to examine the quality of life in children and adolescents with asthma and the correlation between the degree of asthma control and the quality of life.Methods: The cross-sectional study included 100 children and adolescents with asthma over a six-month period in 2015. The study used: Standardized Pediatric Asthma Quality of Life Questionnaire (PAQLQ(S)) for the assessment quality of life and the questionnaires for the assessment of asthma control for two age groups: Asthma Control Test (ACT) for adolescents and Childhood Asthma Control Test (C-ACT).Results: 62 boys and 38 girls aged 7−17, whose average age was 11.2 (s = 2.7) years were included in the study. The overall PAQLQ(S) score ranged between 3.30 and 7.00 with an average mean value of 5.95. The findings have showed that most children with asthma estimated their overall PAQLQ(S) on the positive end of the scale. The children reported more impairment in the domain of 'Emotion' (x = 5.84) than in 'Activities' and 'Symptoms'. The percentage of adolescents in the category of poor control (12.5 %) was significantly lower than in the group of children (25.0 %). In both groups of children, the sub-scale 'Symptoms' was in highest correlation with the degree of asthma control (r = 0.915, p < 0.01).Discussion and conclusion: In this study the children and adolescents with asthma showed an overall good quality of life. Control of asthma symptoms in children and adolescents positively influenced their quality of life.

J. Hanjalić, Lejla Lasić, F. Gaši, M. Meland, J. Grahić, B. Kalamujić Stroil

The main goal of any DNA extraction procedure is to ensure reliable and reproducible results in a simple, fast and inexpensive manner. When it comes to plant tissues, this goal is challenging to achieve due to the presence of a variety of metabolites that interfere with DNA during isolation and downstream analysis. In this study, we compared the efficiency of three methods for DNA extraction from plum kernels: 1) the standard CTAB Soltis method which is the most common protocol for DNA extraction from various plant tissues (seeds, young leafs, mature leafs, root); 2) CTAB-based method originally described for DNA isolation from medicinal plants with high levels of secondary metabolites; 3) and one of various commercially available kits. The usefulness of the obtained DNA was evaluated by SSR analysis with seven microsatellite markers. Although the latter two extraction protocols retrieved genomic DNA that gave positive PCR results, only DNA isolated by kit produced full SSR profile

Berina Zametica, Sonja Mačar, Abdurahim Kalajdžić, A. Pilav, M. Dzehverovic, J. Cakar

Mutation analysis in forensic genetics and occurrence of mutations at short-tandem repeat (STR) loci, are very important in paternity testing and precise elucidation of obtained genetic profiles. To determine these locus-specific mutations in Bosnian-Herzegovinian population and their rate, 15 or 22 autosomal loci were typed using PowerPlex 16 and PowerPlex Fusion systems. In total, 1253 individuals within 583 parenthood testing cases were profiled at the Institute for Genetic Engineering and Biotechnology, University of Sarajevo during the period from 2009-2018. Out of total cases, in 13 cases 14 mutations were discovered at 11 loci. Among all tested DNA profiles two mutations occurred at D8S1179, D18S51 and FGA loci each, and one mutation at PENTA D, D3S1358, CSF1P0, D21S11, D5S818, vWA, D16S539, PENTA E. Mutation rates were calculated for 11 loci and were in consistency with mutation rates reported for correspondent locus. In our study, one mutation at locus PENTA D derives from maternal source. Also in one trio paternity case two single-step mutations at loci D16S539 and D18S51 were observed. Our results confirmed mutation analysis is important in paternity testing and therefore much attention should be directed at their analysis

S. Beer-Hammer, S. C. Lee, Stephanie A Mauriac, V. Leiss, I. Groh, A. Novakovic, R. Piekorz, K. Bucher et al.

Background/Aims: From invertebrates to mammals, Gαi proteins act together with their common binding partner Gpsm2 to govern cell polarization and planar organization in virtually any polarized cell. Recently, we demonstrated that Gαi3-deficiency in pre-hearing murine cochleae pointed to a role of Gαi3 for asymmetric migration of the kinocilium as well as the orientation and shape of the stereociliary (“hair”) bundle, a requirement for the progression of mature hearing. We found that the lack of Gαi3 impairs stereociliary elongation and hair bundle shape in high-frequency cochlear regions, linked to elevated hearing thresholds for high-frequency sound. How these morphological defects translate into hearing phenotypes is not clear. Methods: Here, we studied global and conditional Gnai3 and Gnai2 mouse mutants deficient for either one or both Gαi proteins. Comparative analyses of global versus Foxg1-driven conditional mutants that mainly delete in the inner ear and telencephalon in combination with functional tests were applied to dissect essential and redundant functions of different Gαi isoforms and to assign specific defects to outer or inner hair cells, the auditory nerve, satellite cells or central auditory neurons. Results: Here we report that lack of Gαi3 but not of the ubiquitously expressed Gαi2 elevates hearing threshold, accompanied by impaired hair bundle elongation and shape in high-frequency cochlear regions. During the crucial reprogramming of the immature inner hair cell (IHC) synapse into a functional sensory synapse of the mature IHC deficiency for Gαi2 or Gαi3 had no impact. In contrast, double-deficiency for Gαi2 and Gαi3 isoforms results in abnormalities along the entire tonotopic axis including profound deafness associated with stereocilia defects. In these mice, postnatal IHC synapse maturation is also impaired. In addition, the analysis of conditional versus global Gαi3-deficient mice revealed that the amplitude of ABR wave IV was disproportionally elevated in comparison to ABR wave I indicating that Gαi3 is selectively involved in generation of neural gain during auditory processing. Conclusion: We propose a so far unrecognized complexity of isoform-specific and overlapping Gαi protein functions particular during final differentiation processes.

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