Background: Kawasaki disease (KD) is an acute self-limited febrile vasculitis that mainly affects young children. Coronary artery involvement is the most serious complication in children with KD. It is currently the leading cause of acquired cardiac disease in children from developed countries. Literature data indicate a significant role of genetic susceptibility to KD.Objective: The aim of this study was to perform the first Genome-Wide Association Study (GWAS) in a population of Polish children with KD and identify susceptible genes involved in the pathogenesis of KD.Materials and Methods: The blood samples of Kawasaki disease patients (n = 119) were collected between 2016 and 2020, isolated and stored at the Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute in Warsaw. The control group was based on Polish donors (n = 6,071) registered as the POPULOUS collection at the Biobank Lab of The Department of Molecular Biophysics in University of Lodz. DNA samples were genotyped for 558,231 Single Nucleotide Polymorphisms (SNPs) using the 24 × 1 Infinium HTS Human Core Exome microarrays according to the protocol provided by the manufacturer. In order to discover and verify genetic risk-factors for KD, association analysis was carried out using PLINK 1.9.Results: Of all 164,395 variants, 5 were shown to occur statistically (p_adjusted < 0.05) more frequent in Kawasaki disease patients than in controls. Those are: rs12037447 in non-coding sequence (p_adjusted = 8.329 × 10⁻⁴, OR = 8.697, 95% CI; 3.629–20.84) and rs146732504 in KIF25 (p_adjusted = 0.007354, OR = 11.42, 95% CI; 3.79–34.43), rs151078858 in PTPRJ (p_adjusted = 0.04513, OR = 8.116, 95% CI; 3.134–21.01), rs55723436 in SPECC1L (p_adjusted = 0.04596, OR = 5.596, 95% CI; 2.669–11.74), rs6094136 in RPN2 (p_adjusted = 0.04755, OR = 10.08, 95% CI; 3.385–30.01) genes.Conclusion: Polymorphisms of genes KIF25, PTRPJ, SPECC1L, RNP2 may be linked with the incidence of Kawasaki disease in Polish children.

INTRODUCTION. Tuberculous meningitis (TbM) and meningitis caused by Listeria monocytogenes (LM) require different treatment regimens and have grave prognosis if therapy is delayed .THE AIM OF THE STUDY. Comparison of clinical manifestations, laboratory features and outcome of TbM and LM.MATERIAL AND METHODS. We retrospectively analyzed records of 402 patients with community acquired bacterial meningitis (BM) who were hospitalized between January 2010 and September 2019.RESULTS. LM and TbM were diagnosed in 28 (7.0%) and 23 (5.7%) patients, respectively. Patients with TbM were more likely to present with hydrocephalus (p<0.001), scored lower on the Thwaites Index (TI) (p<0.001) and had longer duration of symptoms prior to hospitalization (p=0.001). Furthermore, TbM patients had lower concentration of c-reactive protein (CRP) (p<0.001) and lower white blood cells count (WBC) (p=0.035). When compared to BM patients with etiology other than LM and TbM (nLnTbM), TbM patients presented with lower concentration of CRP (p<0.001), and procalcitonin (PCT) (p<0.001), lower WBC (p<0.001), and lower granulocyte percentage of CSF cytosis (p<0.001), but were more likely to present with hydrocephalus (p<0.001), aphasia (p=0.003) and hemiparesis (p=0.008). In comparison with the nLnTbM group, LM patients had lower concentration of CRP (p=0.01), lower WBC (p<0.001), and lower granulocyte percentage of CSF cytosis (p<0.016). LM patients were also more likely to have concomitant cancer (p=0.008), receive immunosuppressive treatment (p<0.001) or be immunocompromised (p=0.015).CONCLUSIONS. TbM patients had less pronounced inflammation but more severe central nervous system complications compared to patients with LM and other etiologies. Furthermore, LM patients, but not TbM patients, were often immunocompromised. STRESZCZENIEWSTĘP. Gruźlicze zapalenie opon mózgowo-rdzeniowych (TbM) oraz listeriozowe zapaleniem opon mózgowo-rdzeniowych (LM) wymagają różnych sposobów postępowania, a opóźnienie w rozpoczęciu leczenia ma negatywny wpływ na rokowanie.CEL PRACY. Porównanie obrazu klinicznego, wyników badań laboratoryjnych oraz wyników leczenia pacjentów z TbM i LM.MATERIAŁ I METODY. Dokonano retrospektywnej analizy danych 402 pacjentów z pozaszpitalnym bakteryjnym zapaleniem opon mózgowo-rdzeniowych (BM) hospitalizowanych pomiędzy styczniem 2010 r., a wrześniem 2019 r..WYNIKI. LM zdiagnozowano u 28 (7,0%) a TbM u 23 (5,7%) chorych. U chorych z TbM w porównaniu do chorych z LM częściej występowało wodogłowie (p<0.001), niższa była punktacja w skali Thwaites (TI) (p<0.001) oraz dłuższy był czas występowania objawów przed hospitalizacją (p=0.001). Ponadto u chorych z TbM stwierdzono niższe stężenie białka C-reaktywnego (CRP) (p<0.001) oraz leukocytów (WBC) we krwi obwodowej (p=0.035) w porównaniu do pacjentów z LM. U chorych z TbM w porównaniu do pacjentów z BM o etiologii nie gruźliczej i nie listeriozowej (nLnTbM) stwierdzono niższe stężenie CRP (p<0.001), prokalcytoniny (PCT) (p<0.001), niższy WBC (p<0.001) oraz niższy procent granulocytów w płynie mózgowo-rdzeniowym (PMR) (p<0.001). Dodatkowo pacjenci z TbM częściej mieli wodogłowie (p<0.001), afazję (p=0.003) oraz porażenie połowicze (p=0.008) w porównaniu do pacjentów z nLnTbM. Z kolei chorzy z LM w porównaniu do nLnTbM mieli niższe stężenie CRP (p=0.01), WBC (p<0.001) oraz niższy procent granulocytów w PMR (p=0.016). Pacjenci z LM częściej otrzymywali leczenie immunosupresyjne (p<0.001), częściej występowały u nich zaburzenia odporności (p=0.015) oraz nowotwory (p=0.008).WNIOSKI. Pacjenci z TbM mieli niższe wartości parametrów stanu zapalnego, ale częściej występujące powikłania spowodowane uszkodzeniem ośrodkowego układu nerwowego w porównaniu do pacjentów z LM i nLnTbM. Ponadto u chorych z LM, ale nie z TbM, częściej występowały zaburzenia odporności.

Introduction: The most efficient risk stratification algorithms are expected to deliver robust and indefectible identification of high-risk children with hypertrophic cardiomyopathy (HCM). Here we compare algorithms for risk stratification in primary prevention in HCM children and investigate whether novel indices of biatrial performance improve these algorithms. Methods and Results: The endpoints were defined as sudden cardiac death, resuscitated cardiac arrest, or appropriate implantable cardioverter-defibrillator discharge. We examined the prognostic utility of classic American College of Cardiology/American Heart Association (ACC/AHA) risk factors, the novel HCM Risk-Kids score and the combination of these with indices of biatrial dynamics. The study consisted of 55 HCM children (mean age 12.5 ± 4.6 years, 69.1% males); seven had endpoints (four deaths, three appropriate ICD discharges). A strong trend (DeLong p = 0.08) was observed towards better endpoint identification performance of the HCM Risk-Kids Model compared to the ACC/AHA strategy. Adding the atrial conduit function component significantly improved the prediction capabilities of the AHA/ACC Model (DeLong p = 0.01) and HCM Risk-Kids algorithm (DeLong p = 0.04). Conclusions: The new HCM Risk-Kids individualised algorithm and score was capable of identifying high-risk children with very good accuracy. The inclusion of one of the atrial dynamic indices improved both risk stratification strategies.

Although hypertrophic cardiomyopathy (HCM) is considered a disease of the left ventricle (LV), right ventricular (RV) abnormalities have also been reported on. Cardiovascular magnetic resonance feature tracking (CMR-FT) accurately and reproducibly quantifies RV myocardial deformation. To investigate RV deformation disorders in childhood HCM using CMR-FT. Consecutive subjects aged <18 years with echocardiographic evidence of HCM were enrolled. Cardiovascular magnetic resonance (CMR) was performed including RV volumetric and functional assessment, and late gadolinium enhancement (LGE) imaging. We included 54 children (37 males, 68.5%) with HCM, of which 28 patients (51.8%; mean extent of 2.18 ± 2.34% of LV mass) had late gadolinium enhancement. LV outflow tract obstruction (LVOTO) was detected in 19 subjects (35.2%). In patients with LVOTO, RV global longitudinal strain (RVGLS) (-16.1±5.0 vs. -20.7±5.3, p<0.01), RVGLS rate (-1.05±0.30 vs. -1.26±0.40, p = 0.03), RV radial strain (RVR) (15.8±7.7 vs. 22.1±7.0, p<0.01) and RVR rate (0.95±0.35 vs. 1.6±0.44, p<0.01) were lower than in patients without LVOTO. The RVR rate (p<0.01) was lower in patients with LGE in comparison to patients without LGE. Children with HCM, especially with LVOTO, have significantly reduced indices of RV mechanics despite normal RV systolic function. It seems that the degree of LVOT obstruction is responsible for compromising the RV dynamics, rather than either mass or the amount of LV fibrosis.