The pathogenesis of IgAV, the most common systemic vasculitis in childhood, appears to be complex and requires further elucidation. We aimed to investigate the potential role of galactose-deficient immunoglobulin A1 (Gd-IgA1), high-mobility group box 1 (HMGB1), receptor for advanced glycation end products (RAGE) and protocadherin 1 (PCDH1) in the pathogenesis of IgAV. Our prospective study enrolled 86 patients with IgAV and 70 controls.
View Article and Find Full Text PDFIntroduction: This cross-sectional study enrolled a group of 271 children with microcytic anemia in order to test the performance of 41 single and 2 composite formulas andindices in distinguishing between β-thalassemia (β-thal) and iron deficiency anemia (IDA) in the pediatric population.
Methods: Optimal pediatric cut-off values from the previously published formulas and indices were generated using ROC analysis. Logistic regression in R using generalized linear models (GLM) generated two new indices.
Introduction: Research on mixed warm and cold autoantibodies in autoimmune hemolytic anemia (AIHA) targeting erythrocytes [red blood cells (RBCs)] and platelets is scarcely reported.
Case Presentation: In this study, we present the case of a 5-year-old boy with positive direct [anti-IgG (1+), anti-IgG-C3d (3+)], and indirect antiglobulin (Coombs) tests. The RBCs were coated with polyspecific-positive, warm IgG autoantibodies alongside activated complement components.
We present eight cases of the homozygous MCPggaac haplotype, which is considered to increase the likelihood and severity of atypical hemolytic uremic syndrome (aHUS), especially in combination with additional risk aHUS mutations. Complement blockade (CBT) was applied at a median age of 92 months (IQR 36-252 months). The median number of relapses before CBT initiation (Eculizumab) was two.
View Article and Find Full Text PDFBackground: GIGER MD device applies a biofeedback method through stimulated coordinated rhythmic and dynamic movements of the trunk and extremities in an anti-gravity position, thus helping to regain lost motor functions.
Methods: In this article, the performance of the GIGER MD device was evaluated in 36 children with neurogenic bladder measuring gait speed, voiding bladder capacity, deviation from the age-adjusted bladder capacity (measured using the Koff scale), and urinary incontinence.
Results: Children using the GIGER MD device had an increase in voiding bladder capacity (33.
Contemporary videourodynamic (VUD) investigation combines voiding cystourethrography (VCUG) and urodynamics into one study, which allows simultaneous visualization of the urinary tract by ionizing radiation alongside the measurement of sensation, capacity, compliance, and detrusor pressure during bladder filling and voiding using one double lumen catheter. Today VUD is a benchmark for evaluating the lower urinary tract disorders in children because it evaluates urinary bladder and sphincter function and visualizes bladder morphology and vesicoureteral reflux (VUR) presence at the same time. Several previous studies of fluoroscopic videourodynamics issued concerns regarding radiation exposure.
View Article and Find Full Text PDFBackground: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease among children and adults younger than 30 yr. In our previous study, whole-exome sequencing (WES) identified a known monogenic cause of isolated or syndromic CAKUT in 13% of families with CAKUT. However, WES has limitations and detection of copy number variations (CNV) is technically challenging, and CNVs causative of CAKUT have previously been detected in up to 16% of cases.
View Article and Find Full Text PDFBackground: Diabetic kidney disease (DKD) is the main cause of end-stage renal disease in patients with diabetes mellitus type I (DM-T1). Microalbuminuria and estimated glomerular filtration rate (eGFR) are standard predictors of DKD. However, these predictors have serious weaknesses.
View Article and Find Full Text PDFEur J Paediatr Neurol
January 2022
Aim: To analyse literature data on vaccine related induction, worsening of the disease and disease reccurrences as well as vaccine safety and efficacy among pediatric patients with acquired inflammatory immune-mediated neuromuscular disorders (NMD).
Methods: Medline, Pub Med and Scopus database search from 1975 to 2020 focused on pediatric age was conducted including peer reviews, meta analyses and epidemiological studies on vaccination and Guillain-Barré syndrome (GBS), Bell's palsy, optic neuritis (ON), myasthenia gravis (MG), chronic inflammatory demyelinating polyneuropathy (CIDP) and immune-mediated inflammatory myopathy (IM).
Results And Conclusion: s: There are no strong evidence supporting relationship between vaccination with different pediatric vaccines and development of first episodes or reccurrences of GBS, Bell's palsy, optic neuritis (ON), juvenile MG, CIDP, and IM.
We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD.
View Article and Find Full Text PDFWe analyzed children with urolithiasis with age- and gender-matched healthy children. Calcium (mmol/mmol creatinine) and the calcium/citrate ratio (mol/mmol) are the only variables that differentiate children before puberty from healthy children (ROC analysis confirmed only calcium/citrate as a significant variable with cut-off value > 0.84).
View Article and Find Full Text PDFAim: To evaluate the relationship between the neurological outcome, neonatal epileptic seizures, and signal-intensity visibility of the frontal and parietal periventricular crossroads of pathways on brain magnetic resonance imaging (MRI) in preterm infants at term-equivalent age.
Methods: The study enrolled 48 preterm infants born between 2012 and 2016. The signal-intensity characteristics of the frontal and parietal periventricular crossroads were evaluated and classified into four grades.
Purpose: Although contrast-enhanced urosonography (ceVUS) has shown capable diagnostic accuracy for the diagnosis of vesicoureteral reflux (VUR) in children, the ability of ceVUS to detect intrarenal reflux (IRR) is considered limited. The purpose of our study is to assess the ability of ceVUS to detect IRR as well as its association with age, gender, and the grade of VUR.
Methods: This study included 5153 children who were referred to our clinic for ceVUS.
Acta Medica (Hradec Kralove)
August 2021
Purpose: The aim of the study was to describe clinical characteristics and bladder assessment in children with Non-Monosymptomatic Nocturnal Enuresis (NMNE) in coastal region of Croatia.
Materials And Methods: Records on 85 patients with NMNE were retrospectively reviewed. Bladder assessments were performed in all children.
Rationale: This article describes a child with a life-threatening multiorgan failure with disseminated intravascular coagulation (DIC) and massive complement consumption. To our knowledge this therapeutic approach was for the first time effectively applied in a pediatric patient.
Patient Concerns: A 14-month-old boy was presented with a severe, rapidly progressing, life-threatening disease because of sudden onset of fever, hemathemesis, hematuria, and bloody diarrhoea alongside fast spreading hematomas and general corporeal edema.
An analysis of genotype-phenotype correlation was performed for 14 patients with beta-thalassemia who had been registered in Referral Centre for hematology and oncology of the University Hospital Centre, Zagreb, Croatia. HBB gene mutations were determined using a gene-specific Q5 High-Fidelity PCR analysis with direct DNA sequencing of amplified transcripts. Mahidol score index used for classification of thalassemia severity was found to be low for all the patients enrolled in the study, indicating a mild β-thalassemia phenotype with no signs of disease progression.
View Article and Find Full Text PDFResistance to chemotherapeutics used in the treatment of urinary tract infection is increasing throughout the world. Taking into account clinical experiences, as well as current bacterial resistance in Croatia and neighboring countries, the selection of antibiotic should be the optimal one. Treatment of urinary tract infection in children is particularly demanding due to their age and inclination to severe systemic reaction and renal scarring.
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