A5083872291- Inflammatory Bowel Disease
- Clinical Nutrition and Gastroenterology
- Microscopic Colitis
- Electrolyte and hormonal disorders
- Organ Transplantation Techniques and Outcomes
- Metabolism, Diabetes, and Cancer
- Pancreatic function and diabetes
- Helicobacter pylori-related gastroenterology studies
- Infant Nutrition and Health
- Liver Disease and Transplantation
- Neonatal Respiratory Health Research
- Digestive system and related health
- Ion Transport and Channel Regulation
- Organ Donation and Transplantation
- Pediatric Hepatobiliary Diseases and Treatments
- Hip and Femur Fractures
- Amino Acid Enzymes and Metabolism
- Renal Diseases and Glomerulopathies
- Eating Disorders and Behaviors
- Gait Recognition and Analysis
- Metabolism and Genetic Disorders
- Pharmaceutical studies and practices
- Potassium and Related Disorders
- Child Nutrition and Feeding Issues
- Acute Lymphoblastic Leukemia research
Charles University
2008-2024
Thomayer University Hospital
2023-2024
University Hospital in Motol
2019-2021
The aim of the study was to search for mutations in NEUROD1 and IPF-1 genes patients with clinical characteristics maturity-onset diabetes young (MODY) but no HNF-4A (MODY1), GCK (MODY2) TCF1 (MODY3) genes.We studied 30 unrelated Czech probands a diagnosis MODY (median age at testing, 18 yr; median recognition hyperglycaemia, 16 yr). promoter, exons exon/intron boundaries were examined by polymerase chain reaction-denaturing high performance liquid chromatography direct sequencing.While...
Hepatic artery complications (HACs), such as a thrombosis or stenosis, are serious causes of morbidity and mortality after paediatric liver transplantation (LT). This study will investigate the incidence, current management practices outcomes in patients with HAC LT, including early late complications.
Gonsorcikova L, Vaxillaire M, Pruhova S, Dechaume A, Dusatkova P, Cinek O, Pedersen Froguel Hansen T, Lebl J. Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. We present unique case of 19-year-old man positive family history persistent and V84I in ABCC8. The proband was initially detected to have fasting (ranging 6.1–6.4 mmol/L) at the age 12 years. Increased blood glucose also subsequently five additional members (in his twin brother, sister,...
Abstract Background Data on the outcomes of advanced therapy in paediatric patients with ulcerative colitis (UC) and their predictors are scarce. We aim to assess association between remission at one year treatment pre-specified predictors, including types therapy. Methods Using Czech national prospective registry biologic innovative IBD (CREdIT), we identified 207 courses among UC patients. Disease was defined as Paediatric Ulcerative Colitis Index below 10 points. In this preliminary...
Problematika jídelního chování u malých dětí je v odborné literatuře často opomíjena, ačkoli rámci primární pediatrické péče se jedná o hojně diskutované téma. Samotná porucha příjmu potravy kojenců a batolat charakterizována zejména neadekvátním příjmem stravy neobvyklým (patologickým) stylem krmení. Její diferenciální diagnostika může být široká, nicméně samotný vyšetřovací proces by ne měl příliš invazivní. Předkládaný článek pojednává možnostech správné diagnostiky léčby poruchy ordinaci...
Problems related to ventral hernia repairs (VHR) are very common, and evaluating them using computational methods can assist in selecting the most appropriate treatment. This study is based upon data from 3339 patients different European countries observed during last 12 years (2012–2023), which were collected by specialists surgery. Most underwent standard surgical procedures, with a growing trend towards laparoscopic paper focuses on statistically treatment relation patient age, body mass...
Owing to the invasiveness of endoscopy, use biomarkers, especially faecal calprotectin (FC), has become standard for remission assessment. This study aimed compare accuracy detection endoscopic activity using recently developed FC home test smartphone application (FC-IBDoc) against enzyme-linked immunosorbent assay (ELISA).In all, 102 consecutive observations (89 participants) were included in prospective observational study. FC-IBDoc was performed parallelly with FC-ELISA paediatric...
Tyrosinemie typ 1 (TYR 1) je vzácné autosomálně recesivní onemocnění z okruhu dědičných poruch metabolismu aminokyselin. Podkladem jsou bialelické mutace v genu FAH, vedoucí k poruše aktivity fumarylacetoacetáthydrolázy, klíčového enzymu tyrosinu. U dětí s TYR dochází alternativní metabolickou cestou nadprodukci toxických metabolitů, především sukcinylacetonu a fumarylacetoacetátu, které poškozují hepatocyty tubulární buňky ledvin. Klinicky se projevuje akutní formou jaterního renálního...
Incidence zánětlivých střevních onemocnění celosvětově stoupá, a to zejména v dětské populaci. Zánětlivá střevní mohou být doprovázena extraintestinální manifestací. Nejčastěji jsou kromě střev postiženy klouby, kůže, žlučové cesty oči. Dalším orgánem, který může rámci základního zasažen, ledviny. Nejobvyklejší renální projevy zahrnují nefrolitiázu dále také renálního parenchymu - tubulointersticiální nefritidu, glomerulonefritidu amyloidózu. V našem přehledovém článku se zaměřujeme na...