A5049259104- Pelvic floor disorders treatments
- Gout, Hyperuricemia, Uric Acid
- Diabetes Management and Research
- Folate and B Vitamins Research
- Pancreatic function and diabetes
- Diabetes and associated disorders
- Urinary Bladder and Prostate Research
- Multiple Sclerosis Research Studies
- Anorectal Disease Treatments and Outcomes
- Metabolism and Genetic Disorders
- Urological Disorders and Treatments
- Diabetes Treatment and Management
- Inflammasome and immune disorders
- Case Reports on Hematomas
- Liver Disease Diagnosis and Treatment
- Alcohol Consumption and Health Effects
- Pelvic and Acetabular Injuries
- Autoimmune and Inflammatory Disorders Research
- Neonatal Health and Biochemistry
- Hernia repair and management
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Cerebral Palsy and Movement Disorders
- Cancer-related molecular mechanisms research
- Peripheral Neuropathies and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Charles University
2014-2025
Central European Institute of Technology
2023-2024
Central European Institute of Technology – Masaryk University
2024
Rutgers, The State University of New Jersey
2024
Hospital General de Niños Ricardo Gutierrez
2024
Monash University
2024
Royal Manchester Children's Hospital
2024
University Hospital in Motol
2024
Bambino Gesù Children's Hospital
2024
IRCCS Materno Infantile Burlo Garofolo
2024
Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in decreased excretion are major causes hyperuricemia and gout. In the present study, our objective was to determine frequency effect on gout common rare non-synonymous other functional allelic ABCG2 gene.
ABCG2 is a high-capacity urate transporter that plays crucial role in renal overload and extra-renal underexcretion. Previous studies have suggested an association between hyperuricemia gout susceptibility relative to dysfunctional variants, with rs2231142 (Q141K) being the most common. In this study, we analyzed gene cohort focusing on patients pediatric-onset, i.e., before 18 years of age. The was recruited from Czech Republic (n = 234) consisted 58 primary 176 patients, focus...
ATP-binding cassette subfamily G member 2 (ABCG2) is a physiologically important urate transporter. Accumulating evidence demonstrates that congenital dysfunction of ABCG2 an genetic risk factor in gout and hyperuricemia; recent studies suggest the clinical significance both common rare variants ABCG2. However, effects on such diseases are not fully understood. Here, using cohort 250 Czech individuals European descent (68 primary hyperuricemia patients 182 patients), we examined exonic...
Abstract Background Currently, it is not possible to predict whether patients with hyperuricemia (HUA) will develop gout and how this progression may be affected by urate-lowering treatment (ULT). Our study aimed evaluate differences in plasma lipidome between asymptomatic HUA detected ≤ 40 years (HUA 40) > years, disease onset (Gout normouricemic healthy controls (HC). Methods Plasma samples were collected from 94 (77% subjects, 196 (59% Gout 40), 53 HC. A comprehensive targeted...
Urate transporters, which are located in the kidneys, significantly affect level of uric acid body. We looked at genetic variants genes encoding major reabsorption proteins GLUT9 (SLC2A9) and URAT1 (SLC22A12) their association with hyperuricemia gout. In a cohort 250 individuals primary gout, we used direct sequencing to examine SLC22A12 SLC2A9 genes. Identified were evaluated relation clinical data, biochemical parameters, metabolic syndrome criteria, our previous analysis secretory urate...
Objective To compare parameters of glycemic control among three types hybrid closed loop (HCL) systems in children with T1D (CwD) using population-wide data from the national pediatric diabetes registry ČENDA. Methods CwD aged <19 years treated Medtronic MiniMed 780G (780G), Tandem t:slim X2 (Control-IQ) or do-it-yourself AndroidAPS (AAPS) for >12 months and monitored by CGM >70% time were included. HbA1c, times ranges, Glycemia Risk Index (GRI) used cross-sectional...
Introduction Automated bone age assessment has recently become increasingly popular. The aim of this study was to assess the agreement between automated and manual evaluation using method according Tanner-Whitehouse (TW3) Greulich-Pyle (GP). Methods We evaluated 1285 scans from 1202 children (657 612 boys) by both (TW3 as well GP) assessment. BoneXpert software versions 2.4.5.1. (BX2) 3.2.1. (BX3) (Visiana, Holte, Denmark) were compared with root mean squared error (RMSE) analysis. Results...
Objective Uric acid is the end product of purine metabolism in humans, and increased serum uric concentrations lead to gout. The objective current study was identify factors that are independently associated with a cohort Czech control individuals. Methods consisted 589 healthy subjects aged 18–65 years. We studied associations between concentration following: (i) demographic, anthropometric other variables previously reported be concentrations; (ii) presence metabolic syndrome levels...
Objective Using European descent Czech populations, we performed a study of SLC2A9 and SLC22A12 genes previously identified as being associated with serum uric acid concentrations gout. This is the first impact non-synonymous allelic variants on function GLUT9 except for patients suffering from renal hypouricemia type 2. Methods The cohort consisted 250 individuals (150 controls, 54 nonspecific hyperuricemics 46 primary gout and/or hyperuricemia subjects). We analyzed 13 exons (GLUT9 variant...
MicroRNAs (miRNAs) are short single-stranded RNAs that play a role in the post-transcriptional regulation of gene expression. Their deregulation can be associated with various diseases, such as cancer, neurodegenerative, and immune-related diseases. The aim our study was to compare miRNA levels plasma could potentially influence progression hyperuricemia gout, since mechanism is still unclear.Total RNA, including miRNA, isolated from 45 patients asymptomatic hyperuricemia, 131 primary gout...
<b><i>Introduction:</i></b> The aim of the study was to assess differences in key parameters type 1 diabetes (T1D) control associated with treatment and monitoring modalities including newly introduced hybrid closed-loop (HCL) algorithm children adolescents T1D (CwD) using data from population-wide pediatric registry ČENDA. <b><i>Methods:</i></b> CwD younger than 19 years duration &gt;1 year were included divided according modality CGM...
The recommended threshold for the time spent on continuous glucose monitoring (CGM) is established at 70%. However, outcomes in children with type 1 diabetes (CwD) using CGM a different proportion of within this have not been evaluated yet. study aims to compare glycemic parameters among CwD who 70%-89% and ≥90% population-wide data from Czech national pediatric registry ČENDA.
Cystathionine β-synthase (CBS) deficiency (classical homocystinuria) has a wide range of severity. Mildly affected patients typically present as adults with thromboembolism and respond to treatment pyridoxine. Severely usually during childhood learning difficulties, ectopia lentis skeletal abnormalities; they are pyridoxine non-responders (NR) or partial responders (PR) require low-methionine diet and/or betaine. The European network registry for Homocystinurias methylation Defects (E-HOD)...
Genome functions are regulated by the means of chromatin and 3D chromosome organization. Dynamic condensation relaxation chromosomes during cell cycle is largely controlled Condensin complexes. We mapped mutants in II subunits SMC2A, CAP-D3 CAP-H2 as hypersensitive to DNA-protein crosslink (DPC) inducer zebularine. This suggested that complex required for resistance genotoxic stress Arabidopsis prompted us explore underlying phenotypes. show role zebularine independent DNA damage response...
Decreasing the dietary intake of methionine exerts robust anti-adiposity effects in rodents but modest humans. Since cysteine can be synthesized from methionine, animal diets are formulated by decreasing and eliminating cysteine. Such exert both restriction (MR) (CR), that is, sulfur amino acid (SAAR). Contrarily, SAAR for human consumption included cysteine, thus might have exerted only MR. Epidemiological studies positively correlate body adiposity with plasma not suggesting CR, MR, is...