Scientific programme

 

Friday 17 June 2022

08.30 - 08.40

Opening ceremony

08.40 - 09.10

KEYNOTE LECTURE

chair: Petr Jabandziev
  Gregor Mendel celebrates 200 years: from the gardens of the Augustinian monastery in Brno to the treatment of monogenic diseases and precision oncology
Ondrej Slaby
 

09.10 - 11.40

PANEL I

chairs: Jiri Bronsky, Natasa Marcun Varda
1.
 
Hypersensitivity reactions to beta-lactam antibiotics in children
Dvorakova L. et al.
2.
 
TREC analysis of newborns at tertial clinical centre
Hulinkova I. et al.
3.


 
Personalized molecularly guided treatment for vascular malformations harboring PIK3CA and TEK mutation in children, adolescents, and young adults: A single-center case series with high response rate and low toxicity profile
Sterba M. et al.
4.
 
Bone mineral density and oxidative stress in adolescent girls with anorexia nervosa
Gaal Kovalcikova A. et al.
5.


 
Cross-Sectional Study of the Prevalence of Cobalamin
Deficiency and Vitamin B12 Supplementation Habits among Vegetarian and Vegan Children in the Czech Republic
Svetnicka M. et al.
6.

 
Effects of anti-TNFα therapy on the faecal bacteriome in paediatric patients with Crohn’s disease in contrast to juvenile idiopathic arthritis – the MICROJATT study 
Hurych J. et al.
7.
 
Ultrasound elastography of liver and kidneys in children and young adults – a pilot study
Mocnik M. et al.
8.
 
Chronic recurrent multifocal osteomyelitis - clinical and genetic features of paediatric patients
Pytelova Z. et al.
9.

 
Monitoring of pulmonary functions by lung clearance index using multiple breath washout tests in premature infants with bronchopulmonary dysplasia
Cernanova K. et al.
10.
 
Real-life vaccination coverage in children with rheumatic diseases
Balaziova B. et al.

11.40 - 12.30
 

Lunch
 

12.30 - 15.00

PANEL II

chairs: Radvan Urbanek, Tomas Honzik
11.

 
Five Czech patients with mitochondrial aminoacyl-tRNA synthetase deficiencies: mutations, phenotypes, and common findings in these ultra-rare syndromes
Hanak P. et al.
12.
 
Cardiac manifestation in patients with PMM2-CDG
Holubova V. et al.
13.
 
Czech cohort of patients with subacute visual loss caused by pathogenic variant in DNAJC30 gene
Kelifova S. et al.
14.
 
Postvaccination and postinfection COVID-19 response in pediatric primary immunodeficient patients
Nabova B. et al.
15.
 
Glycine encephalopathy - Czech Republic cohort
Kulhanek J. et al.
16.
 
Transient Agarose Spot (TAS) assay: a new method to investigate cell migration
Veres-Szekely A. et al.
17.
 
Multiomic aproach in treatment of refractory/relapsed ependymomas in the era of personalised medicine
Tinka P. et al.
18.
 
Characterization of mTOR Activity and Metabolic Profile in Pediatric Rhabdomyosarcoma
Felkai L. et al.
19.
 
Three Waves of PIMS-TS
Misikova D. et al.
20.
 
Start up of  a database of medicines for the paediatric population in the Czech Republic in 2022
Pavlikova S. et al.

15.00 - 15.30
 

Coffee break
 

15.30 - 17.45

PANEL III

chairs: Ludmila Podracka, Jan Janda
21.

 
PARK7 – a novel therapeutic target for peritoneal dialysis induced peritoneal membrane and vascular transformation
Levai E. et al.
22.
 
Acute tubulointerstitial nephritis in children – a retrospective case series in a Czech tertiary pediatric centre
Papez J. et al.
23.
 
Novel integrative method to identify therapeutic targets and compounds for treating kidney fibrosis
Pap D. et al.
24.

 
Extracellular vesicles from peritoneal dialysate moderated progression of peritoneal dialysis associated peritoneal fibrosis
Szebeni B. et al.
25.
 
Autosomal recessive polycystic kidney disease in Slovak and Czech patients
Hrckova G. et al.
26.
 
Extracellular DNA is possible early marker of kidney damage
Gaal Kovalcikova A. et al.
27.
 
Distribution of paediatric diabetes subtypes in a consanguineous region: a single center study
Amaratunga S.A. et al.
28.
 
Genetic analysis of children with clinically non-syndromic tall stature
Adamovicova K. et al.
29.

 
Growth hormone deficiency: Extending phenotypic spectrum of SALL4 related disorders
Kodytkova A. et al.
 

17.50 - 18.30

POSTER SESSION

chair: Jan Lebl
P01.

 
Patients with congenital anomalies of kidney and urinary tract (cakut) share common hotspot loci with low frequency variants
Zapusek J. et al.
P02.

 
Non-invasive assessment of vascular system function and damage induced by anthracycline treatment in the pediatric cancer survivors
Pirek O. et al.
P03.
 
Using multimodal monitoring on neonates undergoing anesthesia for surgery
Trinh S. et al.
P04.
 
Deep venous thrombosis in children with malignant diseases
Despotovic M. et al.
P05.
 
Infections in children with acute lymphoblastic leukemia
Vraneševic K. et al.
P06.
 
Neutropenia in children: A single-center experience
Zubovic M. et al.
P07.
 
Thalassemia in children: a single center experience
Đorđevic A. et al.
P08.

 
Prediction of effect of nutritional induction therapy in newly diagnosed paediatric patients with luminal Crohn’s disease using metabolomic profiling: preliminary data
Kubat M. et al.
P09.
 
Monitoring the use of medicinal products in the pediatric population and safety parameters in a single center
Slezakova M. et al.
P10.

 
Case report PSC-IBD
Vlčková E.
 

18.45 - 20.00

Visit to the Simulation Centre of the Faculty of Medicine, Masaryk University


20.30 - 23.00

Get together dinner

 

The programme is subject to change.