Tamara Svobodová

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INTRODUCTION Primary ciliary dyskinesia (PCD) is a rare genetically heterogenous condition. Mutations in DNAH5 or DNAI1 genes can be found in about a third of the patients with PCD. Increased occurrence of mutations was described in several exons of these long genes. The objective of the study was to test the sensitivity of sequencing of selected 13 exons(More)
To compare the dose-related bronchodilator efficacy and tolerability of formoterol (Oxis) Turbuhaler with salmeterol Diskhaler and placebo in children with asthma. A single-dose, randomized, double-blind, incomplete crossover study of 68 children (7-17 years), with moderate-to-severe asthma, 82% receiving inhaled corticosteroids. Patients received four of(More)
BACKGROUND The complex structural changes of bronchial mucosa, known as remodelling, have been considered unique and typical for asthma. However, similar changes were recently found in other chronic respiratory diseases. The aim of this study was to compare basement membrane (BM) thickness and the number of transforming growth factor beta 1 (TGF-β1)(More)
Primary ciliary dyskinesia (PCD) leads to recurrent/chronic respiratory infections, resulting in chronic inflammation and potentially in chronic pulmonary disease with bronchiectasis. We analyzed longitudinal data on body length/height and body mass index (BMI) for 29 children and young adults with PCD aging 1.5-24 years (median, 14.5) who had been(More)
BACKGROUND Primary ciliary dyskinesia (PCD) is a multigenic autosomal recessive condition affecting respiratory tract and other organs where ciliary motility is required. The extent of its genetic heterogeneity is remarkable. The aim of the study was to develop a cost-effective pipeline for genetic diagnostics using a combination of Sanger and next(More)
BACKGROUND The most frequently used parameters for assessing bronchoconstriction and bronchodilation are forced expiratory volume in 1 s (FEV(1)) and peak expiratory flow (PEF). OBJECTIVES To assess the sensitivity of other parameters after induced bronchoconstriction and bronchodilation. METHODS From maximum expiratory flow-volume (MEFV) curves, forced(More)
AIMS The aim of the study was to analyze lung growth and abnormality of infant pulmonary function tests (IPFT) in congenital diaphragmatic hernia (CDH) survivors younger than three years of age with respect to unfavorable prognostic factors. METHODS Thirty high-risk CDH survivors at the age of 1.32±0.54 years, body weight 9.76±1.25 kg were examined using(More)
BACKGROUND GATA-2 transcription factor deficiency has recently been described in patients with a propensity towards myeloid malignancy associated with other highly variable phenotypic features: chronic leukocytopenias (dendritic cell-, monocyto-, granulocyto-, lymphocytopenia), increased susceptibility to infections, lymphatic vasculature abnormalities, and(More)
Tracheal diverticulum is a benign cystic mass in the cervical and mediastinal regions, with an incidence of 1% in post-mortem findings, and 2% in CT findings. The lesion is in most cases completely asymptomatic and is most commonly incidentally detected during a CT examination. We present the case of a young female patient with a tracheal diverticulum who(More)
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