Risk factors for a severe disease course in children with SARS-COV-2 infection following hematopoietic cell transplantation in the pre-Omicron period: a prospective multinational Infectious Disease Working Party from the European Society for Blood and Marrow Transplantation group (EBMT) and the Spanish Group of Hematopoietic Stem Cell Transplantation (GETH) study.

Risk factors for severe SARS-Cov-2 infection course are poorly described in children following hematopoietic cell transplantation (HCT). In this international study, we analyzed factors associated with a severe course (intensive care unit (ICU) admission and/or mortality) in post-HCT children. Eighty-nine children (58% male; median age 9 years (min-max 1-18)) who received an allogeneic (85; 96%) or an autologous (4; 4%) HCT were reported from 28 centers (18 countries).

-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.

Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation. In this work, we present a comprehensive glycoprofile analysis of a male patient with a novel missense variant in the gene, coding a galactose transporter that translocates UDP-galactose from the cytosol to the lumen of the endoplasmic reticulum and Golgi apparatus. Isoelectric focusing of serum transferrin, which resulted in a CDG type II pattern, was followed by structural analysis of transferrin and serum -glycans, as well as the analysis of apolipoprotein CIII -glycans by mass spectrometry.

The Importance of New EBMT Criteria on the Diagnosis of Veno-Occlusive Liver Disease in Children.

Background: Early recognition and specific therapy facilitate a favorable disease course in hepatic venous-occlusive disease (HVOD) following hematopoietic stem cell transplantation (HCT). Diagnostic and classification criteria, published by the European Society for Blood and Marrow Transplantation (EBMT), better account for clinical differences in disease presentation in pediatric populations.

Objectives: To compare the course of HVOD in children before and after the implementation of new EBMT criteria.

Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension.

Background: Impaired kidney concentration capacity is present in half of the patients with autosomal dominant polycystic kidney disease (ADPKD). The kidney concentrating capacity was further impaired within the animal model of autosomal recessive polycystic kidney disease (ARPKD). To date, only one small study has investigated it in children having ARPKD.

Genetic nephrotic syndrome associated with disturbed function of glomerular slit membrane and podocyte cytoskeleton in children.

Background: Genetic nephrotic syndrome is caused by pathogenic variants in genes encoding proteins necessary for the stability and functionality of the glomerular filtration barrier. To date, more than 70 genes associated with steroid-resistant nephrotic syndrome have been identified. We review the clinical and molecular aspects of genetic nephrotic syndrome with a particular focus on genes associated with slit membrane and podocyte cytoskeleton defects.

Associations of and expression in adipose tissue cells with obesity-related alterations in corresponding circulating levels and adipose tissue function in children.

Components of the growth hormone (GH) axis, such as insulin-like growth factor-1 (IGF-1), IGF-1 binding protein-3 (IGFBP-3), GH receptor (GHR) and GH-binding protein (GHBP), regulate growth and metabolic pathways. Here, we asked if serum levels of these factors are altered with overweight/obesity and if this is related to adipose tissue (AT) expression and/or increased fat mass. Furthermore, we hypothesized that expression of and is associated with AT function.

Determination of reference ranges for the ClotPro® thromboelastometry device in paediatric patients.

Background: A new thromboelastometry analyser (ClotPro®) was developed with advanced diagnostics. The reference ranges of ClotPro® in children ages 0-16 yr have not been reported.

Methods: In this prospective study, venous blood samples from 321 patients were obtained from children undergoing elective surgery after induction of anaesthesia.

Use of eculizumab in children with allogeneic haematopoietic stem cell transplantation associated thrombotic microangiopathy - a multicentre retrospective PDWP and IEWP EBMT study.

Terminal complement blockade by humanised monoclonal antibody eculizumab has been used to treat transplantation-associated thrombotic microangiopathy (TA-TMA) in recent years. This retrospective international study conducted by the Paediatric Diseases (PDWP) and Inborn Error Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT) describes outcome and response of 82 paediatric patients from 29 centres who developed TA-TMA and were treated with eculizumab between January 2014 and May 2019. The median time from hematopoietic stem cell transplantation (HSCT) to TA-TMA manifestation was 92 days (range: 7-606) and from TA-TMA diagnosis to the start of eculizumab treatment 6 days (range: 0-135).

The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients.

This study aimed to establish physiological TREC/KREC values in a healthy population of different ages to create cut-offs and analyze pediatric patients with various inborn errors of immunity. Dry blood spots and DNA samples purified from whole blood were used for TREC/KREC quantification using real-time PCR. Observed difference (p < 0.

Slovak Translation and Cross-Cultural Validation of the Eating Assessment Tool (EAT10).

Introduction: The objective of the study was the language adaptation and verification of psychometric properties of the Slovak version of the EAT10® questionnaire. Methods: The original English version of the questionnaire was translated into the Slovak language. The research group included 136 control participants and 51 dysphagic patients.

Extracellular DNA concentrations in various aetiologies of acute kidney injury.

Extracellular DNA (ecDNA) in plasma is a non-specific biomarker of tissue damage. Urinary ecDNA, especially of mitochondrial origin, is a potential non-invasive biomarker of kidney damage. Despite prominent tissue damage, ecDNA has not yet been comprehensively analysed in acute kidney injury (AKI).

Deep subcutaneous cervical emphysema related to mastoid fracture in an adolescent patient - case report.

A fracture of the mastoid bone should be considered in the work-up of a head and neck traumatic injury. A well-pneumatized mastoid can absorb forceful impacts, protecting middle and inner ear structures. Fractures of the mastoid, followed by Valsalva maneuver can lead to subcutaneous cervical emphysema.

Stress Hormones Cortisol and Aldosterone, and Selected Markers of Oxidative Stress in Response to Long-Term Supplementation with Omega-3 Fatty Acids in Adolescent Children with Depression.

Late childhood and adolescence are crucial periods of brain development with high vulnerability to environmental insults. The aim of this study was to test the hypotheses that in adolescents with depression (a) 12 weeks-supplementation with omega-3 fatty acids results in the attenuation of salivary stress hormone concentrations; (b) the mentioned supplementation improves potentially disrupted daily rhythm of stress hormones; (c) stress hormone concentrations correlate with values of selected markers of oxidative stress. The sample consisted of 60 patients suffering from depression aged 11-18 years.

ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.

loss-of-function variants represent a well-established cause of Bainbridge-Ropers syndrome, a syndromic neurodevelopmental disorder with intellectual and motor disabilities. Although a recent large-scale genomics-based study has suggested an association between variation and cerebral palsy, there have been no detailed case descriptions. We report, here, a female individual with a de novo pathogenic c.

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.

COVID-19 Worsens Chronic Lumbosacral Radicular Pain-Case Series Report.

The knowledge of the COVID-19 symptomatology has increased since the beginning of the SARS-CoV-2 pandemic. The symptoms of nervous system involvement have been observed across the spectrum of COVID-19 severity. Reports describing difficulties of nerve roots are rare; the affection of brain and spinal cord by SARS-CoV-2 is of leading interest.

Polymicrobial Acute Suppurative Parotitis in a 33-Day-Old Infant: A Case Report and Review of the Literature.

Background: Acute suppurative parotitis (ASP) of neonates is a rare condition characterized by irritability, erythema, and tenderness of the affected gland.

Methods/results: Only few cases have been reported in Engilsh literature, mostly in male neonates, in a unilateral fashion. In our case, a polymicrobial etiology (, and ) was found.

Gut Microbiome Suffers from Hematopoietic Stem Cell Transplantation in Childhood and Its Characteristics Are Positively Associated with Intra-Hospital Physical Exercise.

Gut microbiome impairment is a serious side effect of cancer treatment. The aim of this study was to identify the effects of hematopoietic stem cell transplantation (HSCT) treatment on gut microbiota composition in children with acute lymphoblastic leukemia (ALL). Fecal microbiotas were categorized using specific primers targeting the V1-V3 region of 16S rDNA in eligible pediatric ALL patients after HSCT (n = 16) and in healthy controls (Ctrl, n = 13).

Hypertension in obese children is associated with vitamin D deficiency and serotonin dysregulation.

Background: Obesity and hypertension represent serious health issues affecting the pediatric population with increasing prevalence. Hypovitaminosis D has been suggested to be associated with arterial hypertension. Serotonin by modulating nitric oxide synthase affect blood pressure regulation.

Lethal hemorrhagic necrotizing pancreatitis in a child with congenital immunodeficiency and COVID-19.

Purpose: Various manifestations of coronavirus (SARS-CoV-2) have been reported since the pandemic began. Some articles have reported acute pancreatitis in adult patients due to COVID-19 infection. To our knowledge this is the first report of acute hemorrhagic necrotizing pancreatitis in children associated with SARS-CoV-2 infection.

Comprehensive Assessment of Selected Immune Cell Subpopulations Changes in Chemotherapy-Naïve Germ Cell Tumor Patients.

The pattern of immune cell distribution in testicular germ cell tumors (GCT) significantly differs from the immune environment in normal testicular tissues. The present study aimed to evaluate the role of different leukocyte subpopulation in GCTs. A cohort of 84 chemotherapy-naïve GCT patients was analyzed.

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.

Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling consequences and poor life expectancy. Enzyme replacement therapy (ERT) is now available for most MPS types, offering beneficial effects on disease progression and improving quality of life of patients.