Group Of Healthy Children Research Articles

Changes in circulating levels and cardiac expression of adiponectin system in children with heart failure after Ventricular Assist Device support

Abstract Background Ventricular Assist Device (VAD) is increasingly used as bridge to transplantation for the treatment adult and pediatric patients with end-stage Heart Failure (HF). Unloading of heart by VAD can lead to significant molecular, structural and functional changes of cardiac muscle in HF adult patients, including an improvement of the inflammatory process. Adiponectin (ADN), an anti-inflammatory adipokine, exerts anti-hypertrophic, anti-fibrotic and anti-apoptotic effects after binding to AdipoR1, AdipoR2 and T-CAD receptors. There is an apparently paradoxical increase of ADN levels in HF adult patients, probably due ADN resistance. VAD treatment leads to an increased cardiac expression of ADN receptors in HF adults. However, little is known about the role of ADN in HF children and the effects of VAD support on ADN system in these patients. Purpose The aims of this study were to evaluate: 1) the circulating ADN levels from HF children and a control group of healthy children; 2) the effects of VAD treatment both on circulating levels of ADN and on the cardiac expression of ADN system in pediatric patients with HF. Methods Circulating levels of ADN were measured in plasma samples collected from 8 HF children [age:57±33 (mean±SD) months; 2 males; 14.2±13.5 weight; 29±8 LVEF%] before and at 4 hrs, 1, 3, 7, 14 and 30 days after VAD implant. The ADN levels of paediatric patients at baseline were compared with a group of 107 [58±7 months; 67 males] healthy children. Expression levels of AdipoR1, AdipoR2, T-CAD were determined by real-time PCR in cardiac biopsies collected from HF children at the time of VAD implant (Pre-VAD) and at the time of heart transplantation (Post-VAD). Results Circulating levels of ADN were significantly higher in HF compared to healthy children (Figure 1A). In HF children, plasma ADN decreased significantly in early post-operative time-course (up to 3 days Post-VAD implant) and returned to pre-operative levels in 1 month (Figure 1B). In cardiac biopsies, mRNA expression of AdipoR1, AdipoR2, T-CAD increased significantly after VAD treatment compared to Pre-VAD (Figure 2A–C). Conclusion In pediatric patients, high circulating levels of ADN were associated with presence of HF and were modified by VAD implant, but remained significantly abnormal. On the other hand, an increased cardiac mRNA expression of ADN receptors was observed after VAD. These results could suggest the existence of a fine tuning of the ADN system at cardiac tissue level, able to mitigate plasma abnormality and favour the cardio-protective effect of ADN. Funding Acknowledgement Type of funding source: Public grant(s) – EU funding. Main funding source(s): SensorART-A Remote Controlled Sensorized ARTificial Heart Enabling Patients Empowerment and New Therapy Approaches

Analysis of polymorphisms in the colchicine binding site of tubulin in colchicine-resistant familial Mediterranean fever patients.

Familial Mediterranean fever is a hereditary autoinflammatory syndrome. The typical treatment for the disease is colchicine. However, a subset of patients are not responsive to colchicine. In this study, polymorphisms in the colchicine-binding site of the TUBB1 gene, which encodes a tubulin isoform specific to leukocytes, were investigated in patients with colchicine-resistant disease. FMF patients who were followed in the Department of Pediatric Rheumatology at Hacettepe University were included in this study. Colchicine resistance was defined as ongoing disease activity (≥ 1 attack/month over 3months or persistently elevated CRP) while taking the maximum tolerated dose of colchicine. A total of 62 Turkish FMF patients (42 colchicine-responsive and 20 colchicine-resistant) and a control group of healthy children were included in the study. DNA was extracted for analysis of TUBB1, and the colchicine binding site was sequenced. We did not observe A248T (rs148237574) or M257V (rs759579888), two variations that were previously associated with colchicine resistance in an in silico analysis. We did detect T274M (rs35565630), R306H (rs772479017), and R307H (rs6070697) variants in the FMF patients, but there was no statistically significant difference between the colchicine-responsive and colchicine-resistant groups. This is the first study to evaluate TUBB1 gene polymorphisms in the colchicine binding site in patients with FMF. Our data do not support the hypothesis that these polymorphisms are a possible cause of colchicine resistance in FMF patients.

Automated Visual Acuity Evaluation Based on Preferential Looking Technique and Controlled with Remote Eye Tracking

Objective: To establish an automated visual acuity test (AVAT) for infants, based on preferential looking technique and controlled with remote eye tracking. To validate the AVAT in a group of healthy children. To compare AVAT visual acuity (VA) values with corresponding VA values acquired with standard tests (ST). Methods: ST, adapted for age (Keeler Acuity Cards in preverbal children and LEA symbols in verbal children), was performed to obtain monocular VA in a group of 36 healthy children. During AVAT, 9 different stimuli with grating circles that matched spatial frequencies of 9 Keeler Acuity Cards (ranging between 0.29 and 14.5 cycles per degree) were projected on a screen. Three repetitions of each stimulus were shown during 9-s intervals, interchanging with an attention grabber. The remote eye tracker was used to evaluate the proportion of time a child spent looking at each grating circle compared to a homogeneous gray background that matched the grating stimuli in average luminance. From this proportion of time, child’s binocular VA was evaluated. Results: Ninety-seven percent (35/36) of healthy children successfully completed ST and AVAT. There was an agreement between the results of an ST and AVAT, with Lin’s concordance coefficient being 0.53 (95% CI = 0.31–0.72). A tendency was observed toward VA overestimation on AVAT for children with VA >0.4 logMAR on ST and toward VA underestimation on AVAT for children with VA ≤0.4 logMAR on ST. Conclusions: AVAT requires a minimally skilled investigator. The evaluation of better eye monocular VA on ST and binocular VA on AVAT was comparable for healthy children.

Evaluating Lymph Node Stiffness to Differentiate Bacterial Cervical Lymphadenitis and Lymph Node-First Presentation of Kawasaki Disease by Shear Wave Elastography.

The purpose of our study was to evaluate the potential of cervical lymph node shear wave elastography (SWE) to quantify the lymph node stiffness (kilopascals) noninvasively among patients with lymph node-first presentation of Kawasaki disease (NFKD), patients with bacterial cervical lymphadenitis (BCL), and healthy children (HC). We further aimed to investigate the correlation of laboratory data and lymph node stiffness to provide a reference basis for the early diagnosis of NFKD. Lymph node stiffness measurements were prospectively performed in 47 patients with NFKD, 56 patients with BCL, and 56 HC using SWE. Cervical SWE was compared in the groups. Factors associated with increased cervical lymph node stiffness were studied. The mean elasticity of the largest cervical lymph nodes was significantly higher in the BCL group than the NFKD and HC groups (mean elasticity ± SD, 16.37 ± 2.45, 12.22 ± 2.64, and 7.81 ± 1.67 kPa, respectively; P < .01), with a cutoff of 14.55 kPa (area under the curve, 0.885; sensitivity, 89%; and specificity, 76%). In patients with NFKD, interleukin 6 (standardized β=0.363; P = .01), alanine aminotransferase (standardized β=0.253; P = .03), aspartate aminotransaminase (standardized β=0.536; P = .047), and total bilirubin (standardized β=0.486; P < .01) values were correlated with increased largest cervical lymph node stiffness. Cervical lymph node stiffness was different between NFKD and BCL. Shear wave elastography is a potential method to identify clinically distinguishable early NFKD.

Brain Functional Connectivity Correlates of Subclinical Obsessive-Compulsive Symptoms in Healthy Children

Commonly observed subclinical obsessive-compulsive symptoms in healthy children may predispose to obsessive-compulsive disorder (OCD). Therefore, investigating the underlying neurobiology may be relevant to identify alterations in specific brain circuits potentially accounting for clinical heterogeneity in OCD without the confounding effects of clinical samples. We analyzed the brain correlates of different obsessive-compulsive symptoms in a large group of healthy children using functional connectivity measures. We evaluated 227 healthy children (52% girls; mean [SD] age 9.71 [0.86] years; range, 8-12.1 years). Participants underwent clinical assessment with the Obsessive-Compulsive Inventory-Child Version and a resting-state functional magnetic resonance imaging examination. Total and symptom-specific severity were correlated with voxelwise global functional connectivity degree values. Significant clusters were then used as seeds of interest in seed-to-voxel analyses. Modulating effects of age and sex were also assessed. Global functional connectivity of the left ventral putamen and medial dorsal thalamus correlated negatively with total obsessive-compulsive symptom severity. Seed-to-voxel analyses revealed specific negative correlations from these clusters with limbic, sensorimotor, and insular regions in association with obsessing, ordering, and doubt-checking symptoms, respectively. Hoarding symptoms were associated with negative correlations between the left medial dorsal thalamus and a widespread pattern of regions, with such associations modulated by sex and age. Our findings concur with prevailing neurobiological models of OCD on the importance of cortico-striato-thalamo-cortical dysfunction to account for symptom severity. Notably, we showed that changes in cortico-striato-thalamo-cortical connectivity are present at subclinical stages, which may result in an increased vulnerability for OCD. Moreover, we mapped different symptom dimensions onto specific cortico-striato-thalamo-cortical circuit attributes.

Volumetric brain magnetic resonance imaging analysis in children with obstructive sleep apnea

ObjectivesPediatric Obstructive Sleep Apnea (OSA) is associated with neurocognitive deficits. Cerebral structural alterations in the frontal cortex, cerebellum, and hippocampus have been reported in adult OSA patients. These brain areas are important for executive functioning, motor regulation of breathing, and memory function, respectively. Corresponding evidence comparing cerebral structures in pediatric OSA patients is limited. The objective of this study is to investigate MRI differences in cortical thickness and cortical volume in children with and without OSA. Study designProspective, single institutional case-control study. MethodsForty-five children were recruited at a pediatric tertiary care center (27 with OSA; mean age 9.9 ± 1.9 years, and 18 controls; mean age 10.5 ± 1.0 years). The OSA group underwent magnetic resonance imaging (MRI), polysomnography (PSG) and completed the Pediatric Daytime Sleepiness Scale (PDSS) and the Child's Sleep Habits Questionnaire (CSHQ). High-resolution T1-weighted MRI was utilized to examine cortical thickness and gray and white matter volume in children with OSA compared to a healthy group of demographically-comparable children without OSA selected from a pre-existing MRI dataset. ResultsChildren with OSA showed multiple regions of cortical thinning primarily in the left hemisphere. Reduced gray matter (GM) volume was noted in the OSA group in multiple frontal regions of the left hemisphere (superior frontal, rostral medial frontal, and caudal medial frontal regions). Reduced white matter (WM) volume in both the left and right hemisphere was observed in regions of the frontal, parietal, and occipital lobes in children with OSA. ConclusionThis study noted differences in cortical thickness and GM and WM regional brain volumes in children with OSA. These findings are consistent with other pediatric studies, which also report differences between healthy children and those with OSA. We found that the severity of OSA does not correlate with the extent of MRI alterations.

Therapy of recurrent herpetic stomatitis in childrens with bronchial asthma

The work presents the results of a study of the effectiveness of the use of an immunomodulating agent for the treatment of recurrent herpetic stomatitis in children with bronchial asthma. The therapy of recurrent herpetic stomatitis was carried out in 67 children aged 1 to 16 years with bronchial asthma according to the scheme proposed by the authors using an immunomodulator. The immune status of patients before and after the therapy was assessed using the following indicators: the content of immunoglobulin (SIgA) in saliva, salivary lysozyme, an integrated indicator, the balance coefficient (Ksb). The results of the study showed that after the therapy, the incidence rates of recurrent herpetic stomatitis improved, the state of local immunity approached the group of healthy children. It is concluded that the proposed therapy for recurrent herpetic stomatitis in children with bronchial asthma gave a positive result and can be recommended for the treatment of this category of patients.

Morphofunctional disorders of the cardiovascular system in cakutsyndrome in children

BACKGROUND. Congenital abnormalities of the kidneys and urinary tract in children are included in the concept of CAKUT (con­genital anomalies of the kidney and urinal tract) - a syndrome and are often accompanied by changes in the cardiovascular system, which requires an interdisciplinary approach when observing them. THE AIM: to evaluate the nature and frequency of morphofunctional disorders ofthe cardiovascular system in children with CAKUT syndrome and optimize their medical follow-up. PATIENTS AND METHODS. 120 children were examined-90 with CAKUT syndrome (group 1) (24 - the doubling of the urinary tract, 36 - with congenital hydronephrosis, 30 - with polycystic kidney disease), and 30 practically healthy children (group 2). In group 1, there were 38 (42.2%) boys and 52 (57.8%) girls aged 4 to 16 years (average age 8±5.82 years), in group 2-13 (43.3%) boys and 17 (56.7%) girls aged 4 to 15 years (average age 6±6.73 years). A comprehensive examination of the urinary and cardiovascular systems was performed using ultrasound diagnostics and Holter monitoring of ECG and blood pressure. Statisti­cal processing was performed using the program "Statistica 8.0"("Stat Soft Inc., USA"). RESULTS. In CAKUT syndrome, often chronic infection was registered in children with a doubling of MVP (91.7%), hydronephrosis (88.9%). Persistent and increased crystalluria was observed in every third patient (33.3%) with a doubling of MVP, in 47.2% of children with hydronephrosis, and in almost 2/3 of patients (73.3%) with the polycystic disease. In children with CAKUT syndrome, congenital heart disease was de­tected in 15.0% of cases, with a high frequency of small heart abnormalities with a predominance ofthe left ventricular false chord (38.9%) and mitral valve prolapse (33.6%). CONCLUSION. The data obtained by us justify the need to include in the standard of dispensary observation of children with urinary tract congenital malformation examination by a pediatric cardiologist 1 -2 times a year with additional examination ofthe cardiovascular system (ECG, heart ultrasound, and daily blood pressure monitoring).

Matrix Remodeling-Associated Protein 5 in Urinary Exosomes as a Potential Novel Marker of Obstructive Nephropathy in Children With Ureteropelvic Junction Obstruction.

Recent investigations have described the use of urinary matrix remodeling-associated protein 5 (MXRA5) as a novel biomarker of kidney impairment in the setting of chronic kidney disease. In this study, we aimed to evaluate the possible clinical application of urinary MXRA5 as a useful non-invasive marker in the urine from the affected renal pelvis and bladder of children with ureteropelvic junction obstruction (UPJO). We conducted a prospective cohort study of patients aged <12 months with prenatally diagnosed unilateral UPJO who underwent dismembered pyeloplasty in 2018 or 2019, and a sex- and age-matched control group of healthy children. Blood urea nitrogen and creatinine levels were normal in all the patients. The whole urine and urinary exosomal concentrations of MXRA5 were measured by enzyme-linked immunosorbent assay. The correlations between bladder/renal pelvic MXRA5 levels and differential renal function (DRF) in the affected kidney were also determined. A total of 35 UPJO patients and 12 controls were enrolled in the study. There was no significant difference in whole-urine MXRA5 level between the controls and UPJO patients. However, the exosomal MXRA5 level was significantly lower in the controls than in patients with UPJO (p < 0.05). There were non-significant correlations between bladder and renal pelvis whole-urine MXRA5 levels and DRF (R2 = 0.1115, p = 0.05 and R2 = 0.3313, p = 0.0502, respectively). The strongest correlation was between exosomal MXRA5 level in the renal pelvis and DRF (R2 = 0.8128, p < 0.0001). Urinary exosomal MXRA5 level was significantly higher in children with UPJO than controls. Higher urinary exosomal MXRA5 levels were significantly correlated with lower DRF in the affected kidney in children with UPJO.

Sustained attention in schoolchildren with type-1 diabetes. A quantitative EEG study

ObjectiveType-1 diabetes (T1D) is a disruptive metabolic disease that has an impact on neurodevelopment through its effects on the structure and function of the brain. One of the cognitive domains affected by T1D is sustained attention. The aim of this study was to analyze this process in children with T1D and compare their results to those of healthy controls. MethodsSeventeen T1D children attending regular primary school and a similar group of healthy children matched by gender, age, handedness, and educational level were evaluated while identifying happy faces in a Go-NoGo task presented visually with simultaneous electrophysiological recording. ResultsBehavioral performance in the two groups was similar but, the T1D children showed greater prefrontal and frontoparietal spectral power in the theta and alpha bands, compared to controls. Distinct patterns of theta lateralization between groups were also observed, with a negative correlation between frontal power magnitudes in delta and theta and glycated hemoglobin levels. ConclusionsThese results seem to reflect the early deleterious effects of T1D on neurodevelopment, which affects mainly attention allocation processes and the neurofunctional substrates that underlie them. SignificanceThis phenomenon emphasizes the need for studies on neural-specific targets in which T1D affects neurodevelopment.

Quality of life among siblings of patients with chronic conditions.

Health-related quality of life (HRQoL) is a measure of health outcomes. It assesses the subjective and overall impact of diseases on daily life. It also provides multidimensional data about physical wellbeing, family and peers relations. HRQoL studies on siblings are limited. To compare HRQoL among siblings of pediatric patients with chronic rheumatic diseases, kidney or liver transplant and healthy children whose siblings had no chronic conditions. The siblings of children with kidney transplant (n: 65), liver transplant (n: 35), and chronic rheumatic diseases (n: 36) were compared to the healthy children group (n: 51). The total siblings group had a lower, statistically significant score in the physical well-being, social support and peers, and financial resources dimensions. The siblings of kidney transplant patients had a low score in the physical wellbeing (p < 0.02; effect size [ES]: 0.66) andfinancial resources (p < 0.01; ES: 0.66) dimensions. The siblings of liver transplant patients perceived a lower physical well-being (p = 0.04), less social support and peers (p < 0.01), and difficulties in relation to school environment (p < 0.02) and financial resources (p <0.01). The siblings of those with chronic rheumatic diseases had a lower score in the physical well-being (p < 0.05; ES: 0.44) and social support and peers (p <0.01; ES: 0.58) dimensions. HRQoL among healthy children whose siblings have a chronic disease was lower in the physical well-being, social support and peers, and financial resources dimensions compared to the healthy children group.

Analysis of the genotypes and interleukins 17A, 17F blood levels in children with allergic bronchial asthma and allergic rhinitis

Introduction. The study of genes that control the activity of cytokines is one of the important issues in revealing the pathogenetic mechanisms of allergic diseases.&#x0D; Aims. Determination of the frequency of occurrence of polymorphic gene markers genotypes and characterization of the interleukins 17A, 17F content in blood serum in children with bronchial asthma and allergic rhinitis.&#x0D; Materials and methods. A comprehensive survey of 110 children with allergic diseases of 311 years old and 60 healthy peers. The material for genetic analysis was DNA with the study of mutation points of IL-17A at position 197 (GA) and IL-17F 7488 (TC). The content of IL-17A, IL-17F interleukins was measured by enzymelinked assay. For the statistical analysis we used the Statistica 10, methods for comparing unrelated groups of genotypes distributions to expected values at HardyWeinberg equilibrium with 2.&#x0D; Results. The frequency of occurrence of genotypes in a group of healthy children was as follows: IL-17A (G197A) heterozygous GA (63,333%), homozygous GG (36,667%); IL-17F (T7488C) TT (36,667%), CT (63,333%), genotypes AA and CC werent determined. In children with allergic diseases, all genotypes were determined: IL-17A (G197A), GG (11,818%), AA (19,091%) and GA (69,091%), IL-17F (T7488C), TT (5,454%), CC (35,455%) and CT (59,091%) with the highest specific gravity of the GG genotype and TT. There were no significant differences in IL-17A, IL-17F levels in the blood serum depending on the genotype.&#x0D; Discussion. There were significant differences in the structure of the polymorphisms of the IL-17A, IL-17F genes, blood levels of IL-17A, IL-17F and the risk of the disease in allergic children and healthy peers. The frequency of allergic diseases in children with genotypes AA and TT is statistically higher, but with genotypes GG, CC is statistically lower than with other genotypes.

Changes in Cortical Thickness Are Associated With Cognitive Ability in Postoperative School-Aged Children With Tetralogy of Fallot.

In children with tetralogy of Fallot (TOF), there is a risk of brain injury even if intracardiac deformities are corrected. This population follow-up study aimed to identify the correlation between cerebral morphology changes and cognition in postoperative school-aged children with TOF. Resting-state functional magnetic resonance imaging (rs-fMRI) and the Wechsler Intelligence Scale for Children–Chinese revised edition (WISC-CR) were used to assess the difference between children with TOF and healthy children (HCs). Multiple linear regression showed that the TOF group had a lower verbal intelligence quotient (VIQ, 95.000 ± 13.433, p = 0.001) than the HC group and that VIQ had significant positive correlations with the cortical thickness of both the left precuneus (p < 0.05) and the right caudal middle frontal gyrus (p < 0.05) after adjustment for preoperative SpO2, preoperative systolic blood pressure (SBP), preoperative diastolic blood pressure (DBP) and time of aortic override (AO). Our results suggested that brain injury induced by TOF would exert lasting effects on cortical and cognitive development at least to school age. This study provides direct evidence of the relationship between cortical thickness and VIQ and of the need for strengthened verbal training in school-aged TOF patients after corrective surgery.

Assessment of weight and height of patients with primary immunodeficiency disorders and group of children with recurrent respiratory tract infections

BackgroundPrimary immunodeficiences (PIDs) are a group of chronic, serious disorders in which the immune response is insufficient. In consequence, it leads to an increased susceptibility to infections. Up to date, there are about 350 different disorders classified in that group. There are also patients suffering from recurrent respiratory tract infections (RRTI), however that group doesn’t present any abnormalities in terms of conducted immunological tests. Many factors, including medical, can have an impact on physical development of a child. Data such as birth weight and length, also weight, height, BMI during admission to the hospital were collected from 195 patients’ medical histories from their hospitalization at Clinical Immunology and Paediatrics Ward of J. Gromkowski Hospital in Wrocław. Investigated groups included patients with PIDs, RRTI and a control group of healthy children. Our purpose was to evaluate the physical growth of children with PID and children with RRTI by assessment of their height and weight. All of parameters were evaluated using centile charts, suitable best for the Polish population.ResultsThe lowest mean birth weight and height was found among the PIDs patients group. Children with PIDs during hospitalization had statistically relevant lower mean weight than the control group and almost 18% of them had their height situated below 3rd percentile. The statistically relevant differences have been found between them and RRTI group in terms of weight, height and nutritional status. The statistically significant difference was detected between the nutritional status of PID and control group.ConclusionsThere is a higher percentage of PID patients with physical growth abnormalities in comparison to healthy children. Our findings indicate a need for further investigation of immune system irregularities and their influence on physical growth of children.

Talk Test As A Measure Of Exercise Intensity In Children

INTRODUCTION: The Talk Test (TT) is a well-accepted measure of exercise intensity and is a useful surrogate of ventilatory (VT) and respiratory compensation (RCT) thresholds in sedentary, fit, athletic, and cardiac populations. Recently, the TT has also been shown to reflect these same markers in children. PURPOSE: The present study was designed 1) to replicate TT results during incremental exercise in children, and 2) to evaluate the ability of the TT to predict when the subjects would be above (-TT) or below (+TT) VT intensity during interval exercise. METHODS: Healthy pre-pubertal children (5m, 5f) were studied using the TT and gas exchange during incremental exercise to determine the match between TT stages and VT. Another group of healthy pre-pubertal children (7m, 6f) were studied both during incremental and stochastic exercise, in order to determine how well TT responses during stochastic exercise predicted whether the children were above or below VT. RESULTS: During incremental exercise, there was good correspondence between the VO2@VT and the VO2@ the last positive (LP) (r=0.79) and the equivocal (EQ) (r=0.75) stages of the TT, which match earlier findings from our laboratory (Giddings et al., 2018; LP TT, r=0.62 & EQ TT, r=0.75). During stochastic exercise, correct matching of predicted vs. observed +TT and predicted vs. observed -TT were present 73% of the time. Discordant results were present 27% of the time. These findings match earlier findings from our laboratory in adults relative to the matching of observed vs. predicted results. CONCLUSION: The TT behaves as a similar surrogate of VT in children, as it does in adults, during both incremental and stochastic exercise.

Application of biomechanical research methods in evaluating results of surgical treatment of children with Legg – Calve – Perthes disease

Objective. To study the functional state of the musculoskeletal system in patients with Legg Calve Perthes disease after surgical treatment.&#x0D; Material and methods. The study of 31 patients at the age of 8 to 13 years with unilateral Legg Calve Perthes disease (LCPD) was performed in the period from 2 to 5 years after surgical treatment. In the control group (15 children), correcting (varus) osteotomy (VO) was fulfilled, in the main group (16 children) triple pelvic osteotomy (TPO), and the group of healthy children (18 persons) was examined as well. Walking biomechanics was studied using of the STEDIS complex (Neurosoft LLC, Ivanovo, Russia). The vertical balance of the body was evaluated on a stabilometric platform MBN "Biomechanics" (LLC NMF MBN, Moscow).&#x0D; Results. After surgical treatment, the indicators of vertical balance and biometry of the step phases in both groups of children with LCPD did not reach the same level as in healthy individuals at the indicated follow-up dates. The least significant indicators of step phase asymmetry were found in patients after TPO compared with patients after VO. In patients after VO, the destabilization of the center of pressure significantly exceeded that in patients after TPO.&#x0D; Conclusions. Biomechanical studies allow us to compare the functional results of various techniques of surgical treatment of children with unilateral LCPD. After TPO operation, patients have a more complete restoration of the supportability of the affected lower limb compared to VO operation.

P0599THE LYSOSOMAL URINE ENZYMES ACTIVITY IN CHILDREN AFTER ACUTE KIDNEY INJURI

Abstract Background and Aims The urgency of the problem of acute kidney injury (AKI) in children is due to the high risk of chronic kidney disease (CKD) as an outcome. Lysosomal enzymes in urine are considered to be informative markers of renal parenchyma damage. The aim of study was to determine the activity of lysosomal enzymes β-galactosidase (GAL) and N-acetyl-β-D-glucosamynidase (NAG) in urine as markers of CKD progression in children after AKI. Method 41 children were examined after AKI with achieving self-diuresis and clinical improvement. The functional state of the kidneys was evaluated by the glomerular filtration rate (Schwartz GFR), the level of albuminuria. Urine enzyme activity was determined and cross-linked to mmol urinary creatinine. The control (reference) group consisted of 28 children who were conditionally healthy, without kidney disease. Results The NAG activity was 8 times higher level than in the reference group of healthy children (87/46;193 vs. 15/11;18, p&amp;lt;0.001), and GAL was elevated in 3 times either (34/22;45 vs. 10/6;13, p&amp;lt;0.001) in patients with a disease period of up to 2 years after AKI. In patients with follow-up period 2 or more years enzyme activity levels decreased, but remained 4 times higher (NAG: 49/31;109, p &amp;lt;0.001 compared to control; GAL: 35/25;44, p &amp;lt;0.001 compared to control). The high levels of enzyme activity was documented in 73.2% of patients after one year of follow up, but the GFR decrease was found in 22.0%, and albuminuria - only in 34.1%. Conclusion The urine activity of NAG and GAL in children is an informative marker for diagnosing recovery after AKI or CKD progression with renal function decline. This method is non-invasive, inexpensive, and simple to conduct.

Association of common genetic variants with vitamin D status in Malaysian children with epilepsy

PurposeChildren with epilepsy (CWE) are at risk of vitamin D deficiency. Single nucleotide polymorphisms (SNPs) affecting the vitamin D pathway are potentially important risk factors for serum 25-hydroxyvitamin D [25(OH)D] concentration. The aims of our study were to evaluate the association of vitamin d-related SNPs to serum 25(OH)D concentrations in Malaysian CWE. MethodsCross-sectional study of Malaysian ambulant CWE on antiseizure medication for >1 year. Sixteen SNPs in 8 genes (GC, VDR, CYP2R1, CYP24A1, CYP27B1, CYP27A1, CYP3A4, NADSYN1/DHCR7) were genotyped. Linear and logistic regression models and co-variates adjusted analyses were used. SNPs with significant associations were further analysed in a group of ethnically-matched healthy Malaysian children. Results239 CWE were recruited (52.7% Malay, 24.3% Chinese and 23.0% Indian) with mean serum 25(OH)D of 58.8 nmol/L (SD 25.7). Prevalence of vitamin D deficiency (≤37.5 nmol/L) was 23.0%. Minor allele of GC-rs4588-A was associated with lower serum 25(OH)D in the meta-analysis of both CWE (β -8.11, P = 0.002) and Malaysian healthy children (β -5.08, P < 0.001), while VDR-rs7975232-A was significantly associated with reduced odds of vitamin D deficiency in Malay subgroup of CWE (OR: 0.16; 95% CI: 0.06–0.49; P = 0.001) and this association was not found in the healthy children group. ConclusionsOur results suggest that GC-rs4588 is associated with lower serum 25(OH)D concentration in both Malaysian CWE and healthy children, while VDR-rs7975232A is associated with lower risk of vitamin D deficiency in Malaysian CWE of Malay ethnicity. Our findings may assist in the genetic risk stratification of low vitamin D status among CWE.

Sella turcica morphometrics in children with unilateral cleft lip and palate

To use morphometric methods to investigate the size and shape of the sella turcica in children with unilateral cleft lip and palate (UCLP). Fifty-six healthy children with non-syndromic UCLP, from a major paediatric teaching hospital, with lateral cephalograms taken prior to alveolar bone grafting, were compared with an age- and sex-matched control group of healthy children without orofacial clefts, with lateral cephalograms taken prior to orthodontic treatment. In this cross-sectional study, conventional measurements were performed on the sella turcica to measure width, height and area on lateral cephalograms. Sella shape was also analysed using 11 points defining the sella turcica contours, using geometric morphometrics. Procrustes superimposition was used to register all sella contour tracings to calculate average sella shape. Principal component analysis was applied to the residuals of the point coordinates, and principal components (PCs) of shape were extracted. Statistically significant differences between the UCLP and control groups were found for sella posterior height, midpoint height, maximum height and area, where all of these were smaller in children with UCLP. Principal component analysis revealed that the first two PCs accounted for 84.7% of total shape variance. There was a statistically significant difference in sella shape between children with UCLP and control children. In children with UCLP, the sella turcica is shorter and with a smaller surface area when compared tomatched non-cleft children. Moreover, sella turcica shape, when disregarding size, seems to differ to that of non-cleft children.

Hyperacusis in Children with Attention Deficit Hyperactivity Disorder: A Preliminary Study

The association between hyperacusis and developmental disorders such as autism spectrum disorders has been extensively reported in the literature; however, the specific prevalence of hyperacusis in attention deficit hyperactivity disorder (ADHD) has never been investigated. In this preliminary study, we evaluated the presence of hyperacusis in a small sample of children affected by ADHD compared to a control group of healthy children. Thirty normal hearing children with a diagnosis of ADHD and 30 children matched for sex and age were enrolled in the study. All children underwent audiological and multidisciplinary neuropsychiatric evaluation. Hearing was assessed using pure tone audiometry and immittance test; ADHD was diagnosed following the Diagnostic and Statistical Manual of Mental Disorder criteria. Hyperacusis was assessed through the administration of a questionnaire to parents and an interview with children. Hyperacusis was diagnosed in 11 children (36.7%) in the study group and in four children (13.3%) in the control group; this difference was statistically significant (p = 0.03). The preliminary results of this study suggest a higher presence of hyperacusis in children with attention deficit hyperactivity disorder compared to control children. More studies on larger samples are necessary to confirm these results.