Lukáš Homola

195 Efficacy of inhaled amiloride solution versus hypertonic saline, prospective open label single center study in children with cystic fibrosis

Abstract of prospective controlled single center study of the efficacy of inhaled amiloride solution versus hypertonic saline in children with cystic fibrosis

Assessment of antibodies against surface and outer membrane proteins of Anaplasma phagocytophilum in Lyme borreliosis and tick-borne encephalitis paediatric patients.

To examine evidence of positive antibodies against immunogenic proteins of Anaplasma phagocytophilum in patients with other tick-borne infections and to diagnose possible co-infections, 412 serum specimens were tested by immunoblotting using three specific Anaplasma antigens: surface proteins p44 and Asp62 and outer membrane protein A (OmpA). In total, 284 serum samples from children with Lyme borreliosis and 12 serum samples from children with tick-borne encephalitis were tested. Sera from patients with viral aseptic meningitis (n = 47) and from blood donors (n = 69) were used as controls. Among all serum specimens from patients with tick-borne infections submitted for this study, six samples (2·0%) showed positive IgM reactions and seven samples (2·4%) were IgG positive for A. phagocytophilum by immunoblot. Borderline reactivity was found in 30 samples (10·14%) for IgM and 36 samples (12·2%) for IgG. The difference between patients and blood donors was statistically significant for IgM (P = 0·006) and for IgG (P = 0·0007) antibodies. A statistically significant result was obtained for IgG (P = 0·02) but not for IgM between patients and children with aseptic meningitis. Immunoblot using three specific antigens provides novel information about the positivity of antibodies to A. phagocytophilum in children with other tick-borne infections. Taking into account clinical and laboratory findings of children despite antibody positivity, no case of human granulocytic anaplasmosis was demonstrated.

302 Vitamin D supplementation in children with cystic fibrosis: sunshine, cholecalciferol and ergocalciferol

Prospective study comparing two different medicamentation used for vitaminD substitution in children with cystic fibrosis and evaluation of sunshine effect to results.

WS11.1 Development of a comprehensive workflow for the analysis of CFTR gene using next generation sequencing technology

I. Valaskova1,2,3, J. Necasova1, R.M. Selingerova1, R. Spesna1, A. Holcikova4, L. Homola4, E. Pokojova5, R. Gaillyova1,2,3. 1University Hospital, Medical Genetics, Brno, Czech Republic; 2Masaryk University, Faculty of Medicine, Department of Biology, Brno, Czech Republic; 3Masaryk University, Faculty of Medicine, Department of Laboratory Methods, Brno, Czech Republic; 4University Hospital, Clinic of Pediatric Infectious Diseases, Brno, Czech Republic; 5University Hospital, Department of Pulmonary Diseases and Tuberculosis, Brno, Czech Republic

9 Identification of a novel missense mutation in CFTR gene, description, and clinical data

9 Identification of a novel missense mutation in CFTR gene, description, and clinical data I. Valaskova1,2, R. Gaillyova1,2, A. Holcikova2,3, L. Homola3, H. Vinohradska4. 1University Hospital, Medical Genetics, Brno, Czech Republic; 2Masaryk University, Brno, Czech Republic; 3University Hospital, Clinical of Pediatric Infectious Diseases, Brno, Czech Republic; 4University Hoospital, Clinical Biochemistry, Brno, Czech Republic

Newborn screening for cystic fibrosis (NBSCF) in region Moravia, Czech Republic

Review of newborn screening for cystic fibrosis in Moravia region from the begining in 2009

Sputum colour and cultivation correlate in CF patients

Retrospective analysis of 900 sputum cultivation results from child patients with cystic fibrosis. Cultivation result were evaluated in relationship with sputum colour. Green and brown sputum corelate with cystic fibrosis specific pathogens cultivation.

Patients homozygous for F508del are not different at the beginning

Retrospective 10 year analysis of child cystic fibrosis onset. Relation between genotype and symptoms and time of onset are evaluated for 40 children. The results shows no major difference betwenn two main genotype groups (homozygous F508del and the others). First symptoms are ussualy failure to thrive and starts until 1 year of age.