Alena Holčíková

Mycobacterium avium subsp. hominissuis in Neck Lymph Nodes of Children and their Environment Examined by Culture and Triplex Quantitative Real-Time PCR

ABSTRACT “Mycobacterium avium subsp. hominissuis” often causes cervical lymphadenitis in children; its prompt and accurate identification enables adequate therapy, tracing, and prevention. The aims of this study were to determine the causative agent of lymphadenitis using culture, PCR, and triplex quantitative real-time PCR (qPCR) methods with DNA directly isolated from tissue, as well as to identify possible sources of infection from the environment. We confirmed the diagnoses by detecting M. avium subsp. hominissuis using qPCR with DNA directly isolated from lymph node biopsy specimens of two patients. In order to trace the source of infection from the environment, a method of DNA isolation from soil and other environmental samples, such as dust, cobwebs, and compost, was developed. The triplex qPCR examination revealed the presence of M. avium subsp. hominissuis in a high proportion of the environmental samples (42.8% in the first patients house and 47.6% in the second patients house). Both patients were also exposed to M. avium subsp. avium, which was present due to the breeding of infected domestic hens. The high infectious dose of M. avium subsp. hominissuis or the increased susceptibility of humans to M. avium subsp. hominissuis compared to M. avium subsp. avium could be the reason why the children were infected with M. avium subsp. hominissuis.

A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl

We report on a 17‐y‐old girl with inherited cutis laxa, immunodeficiency and Dandy‐Walker syndrome. Immunodeficiency manifested itself by decreased and fluctuating levels of IgG, IgA and IgM and intermittent leucopenia causing increased susceptibility to respiratory tract infections. Dandy‐Walker syndrome (agenesis of the cerebellar vermis with a large posterior fossa cyst communicating with an enlarged 4th ventricle) was shown on a CT scan but with the exception of macrocrania, no typical signs or symptoms were observed at the age of 17. Loose hyperextensible skin with pendulous skinfolds as a manifestation of cutis laxa was observed from birth. Anomalies of the right pulmonary artery, abnormal branching of the left arteria subclavia (arteria lusoria) from the left aortic arch and bicuspidal aortic valve were also present.

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

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.

Pulmonary Infection and its Management in Cystic Fibrosis Patients in the Czech Republic

Since 1985, a total of 384 CF patients have been treated in the Czech Republic. Seventy five percent of patients have been treated in Prague, where a research center is also located, and 25% have been managed in other university and large regional hospitals. The mean age of 295 living patients is 12.3 ± 7.4 years. Eighty nine patients died at the mean age 13.2 ± 8.35 years. Fifty percent of our patients survive 21.7 years.