Zuzana Havlicekova

Beta-palmitate – a natural component of human milk in supplemental milk formulas

The composition and function of human milk is unique and gives a basis for the development of modern artificial milk formulas that can provide an appropriate substitute for non-breastfed infants. Although human milk is not fully substitutable, modern milk formulas are attempting to mimic human milk and partially substitute its complex biological positive effects on infants. Besides the immunomodulatory factors from human milk, research has been focused on the composition and structure of human milk fat with a high content of β-palmitic acid (sn-2 palmitic acid, β-palmitate). According to the available studies, increasing the content of β-palmitate added to milk formulas promotes several beneficial physiological functions. β-palmitate positively influences fatty acid metabolism, increases calcium absorption, improves bone matrix quality and the stool consistency, and has a positive effect on the development of the intestinal microbiome.

Reproducibility of food atopy patch tests over time in the general child population.

Background  The atopy patch test (APT) is no longer an experimental method; it is increasingly being used as a standard diagnostic tool for the characterization of patients with aeroallergen‐ and food‐triggered disorders. Some technical aspects of this test still remain to be answered. We aimed to study the reproducibility of this test over time in the general child population.

Cardiac autonomic control in adolescents with primary hypertension

BackgroundImpairment in cardiovascular autonomic regulation participates in the onset and maintenance of primary hypertension.ObjectiveThe aim of the present study was to evaluate cardiac autonomic control using long-term heart rate variability (HRV) analysis in adolescents with primary hypertension.Subjects and methodsTwenty two adolescent patients with primary hypertension (5 girls/17 boys) aged 14-19 years and 22 healthy subjects matched for age and gender were enrolled. Two periods from 24-hour ECG recording were evaluated by HRV analysis: awake state and sleep. HRV analysis included spectral power in low frequency band (LF), in high frequency band (HF), and LF/HF ratio.ResultsIn awake state, adolescents with primary hypertension had lower HF and higher LF and LF/HF ratio. During sleep, HF was lower and LF/HF ratio was higher in patients with primary hypertension.ConclusionsA combination of sympathetic predominance and reduced vagal activity might represent a potential link between psychosocial factors and primary hypertension, associated with increased cardiovascular morbidity.

Factors influencing the levels of exhaled carbon monoxide in asthmatic children

Abstract Objective: Bronchial asthma is characterised by chronic airway inflammation commonly associated with increased oxidative stress. Exhaled carbon monoxide (eCO) levels could act as markers of both oxidative stress and allergic inflammation. We aimed to study eCO levels in asthmatics and detect the possible factors influencing them. Methods: We studied 241 asthmatic children and 75 healthy children. The differences in eCO levels among various asthmatic phenotypes and the correlations between eCO and other measured parameters (spirometric indices, Asthma Control Test score, exhaled nitric oxide, total IgE, blood eosinophils and marker of oxidative damage of proteins) were analysed. Results: Levels of eCO widely differed according to the selected characteristics of asthma. Asthmatics showed higher eCO concentrations than controls (1.44 ± 0.12 ppm vs. 0.91 ± 0.11 ppm, p < 0.001). Acute exacerbation of asthma was accompanied by a significant increase in eCO compared to the clinically controlled stage (2.17 ± 0.36 ppm vs. 1.33 ± 0.13 ppm, p < 0.001). Atopic, non-atopic asthma and asthma associated with allergic rhinitis (AR) showed elevated levels of eCO. The levels of eCO negatively correlated with the marker of protein oxidation in asthmatics, especially in atopic form and during acute exacerbation. Conclusions: In a population of asthmatic children, eCO levels could be considered as a marker of both allergic inflammation and oxidative stress in the airways. Concomitant AR and asthma control were the most important factors affecting the levels of eCO in asthmatic children. However, our results do not support the use of routine eCO in the clinical practice.

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Background: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. Methods: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. Results: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. Conclusions: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.

X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report

AIM Primary immunodeficiencies (PID) are becoming a recognized public health problem worldwide. The most important subgroup of these disorders are the antibody deficiencies. X-linked agammaglobulinaemia was the first described entity of this group and is characterised by early onset of recurrent bacterial infections, profound deficiency of all immunoglobulin isotypes and markedly reduced number of peripheral B-lymphocytes. CASE REPORT We report the case of a 10-year old boy with X-linked agammaglobulinaemia caused by a previously non-described mutation in BTK gene with typical clinical presentation but delayed diagnosis. Following diagnosis, substitution therapy with intravenous immunoglobulins was started and the clinical status of the patient improved. CONCLUSION We reported a case of X-linked agammaglobulinaemia with delayed diagnosis despite the typical anamnestic signs for primary humoral immunodeficiency. The disease was caused by a previously non-reported mutation in the BTK gene. Measurement of serum immunoglobulins should be performed in all children with recurrent, complicated respiratory infections as a screening test for humoral immunodeficiencies.

Side Effects of Food Atopy Patch Tests

A topy patch test (APT) has recently left experimental grounds and is increasingly used as a standard diagnostic tool for characterizing patients with aeroallergen-triggered disorders and food-triggered disorders (especially atopic dermatitis). There are only a few reports on the side effects of APT, and no results are available for the potential sensitizing risk of this test. According to the position paper of European Academy of Allergology and Clinical Immunology, aluminium cups of 12-mm diameter placed on hypoallergenic tape are recommended. 1 There are no reports on the suitability of alternative materials such as rectangular plastic cups.