Česko-slovenská pediatrie, 2022 (vol. 77), issue 4
Co jsme psaliNews
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Čes-slov Pediat 2022, 77(4):183 
EditorialEditorial
Hana Hrstková, Vladimír Bzdúch
Čes-slov Pediat 2022, 77(4):187
Gregor Mendel celebrates 200 years: from the gardens of the Augustinian monastery in Brno to the causal treatment of monogenic diseasesComprehensive Report
Ondřej Slabý, Ondřej Dostál, Kateřina Slabá
Čes-slov Pediat 2022, 77(4):189-197 | DOI: 10.55095/CSPediatrie2022/031
This year we celebrate the 200th anniversary of Gregor Mendel's birth. Mendel was not recognized for his scientific work during his lifetime. It was not until 16 long years after his death that his work was rediscovered to lay the foundations for a new field - genetics. Mendel>s contribution lay not only in his own experiments and their results, but above all in the methodological innovation that consisted in the use of mathematics and statistics in biologic al research, which was something completely new for the then purely descriptive biological sciences. Interestingly, Mendel' s motivation was not to expand human knowledge. Mendel, as he himself...
DystrophinopathiesComprehensive Report
Patrícia Balážová, Karin Viestová, Miriam Kolníková
Čes-slov Pediat 2022, 77(4):198-205 | DOI: 10.55095/CSPediatrie2022/032
The dystrophinopathies are a spectrum of progressive muscular dystrophies that are caused by the absence of or decrease in the function of dystrophin protein. The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and DMD-associated dilated cardiomyopathy (DCM). Due to the incidence in the population, dystrophinopathy is one of the most common neuromuscular diseases of childhood. In clinical picture we can usually find delayed motor development, progressive muscle weakness, calf pseudohypertrophy and Gowers' sign. Based on clinical symptoms and initial tests (the finding of elevated creatine kinase), the diagnosis...
Gregor Mendel and regulation of child's growth: genes, molecules, and paediatric clinical routineComprehensive Report
Ledjona Toni*, Lukáš Plachý*, Shenali Anne Amaratunga*, Petra Dušátková, Aneta Kodytková, Stanislava Koloušková, Štěpánka Průhová, Jan Lebl
Čes-slov Pediat 2022, 77(4):206-213 | DOI: 10.55095/CSPediatrie2022/033
Determination of human growth is mostly genetic (80%) and only partially environmental (20%). The key genes regulating growth include genes encoding proteohormones a related molecules (growth hormone, IGF-1, IGF-2, acid-lable subunit ALS), hormonal receptors (receptors for growth hormone, IGF and pituitary releasing hormones - GHRH and ghrelin), with a limited role of enzymes (PAPPA2). Genes encod ing transcription factors regulate pituitary morphogenesis (sonic hedgehog cascade and others) and differentiati on (PROP1, POU1F1) and also chondrocytes (SHOX). Structural molecules include components of cartilagineous extracellular matrix (gens encoding...
Genetická různorodost monogenního diabetu na UkrajiněAbstracts
Evgenia Globa, Natalia Zelinska, Jan Lebl, Elisa De Franco, Kevin Colclough
Čes-slov Pediat 2022, 77(4):214 | DOI: 10.55095/CSPediatrie2022/034
Monogenic diabetes encompasses at least 70 different genetic subtypes that can be broadly categorized into neonatal diabetes, non-syndromic monogenic diabetes ( maturity-onset diabetes of the young - MODY), diabetes occurring as part of a monogenic syndrome with additional extra-pancreatic features, and monogenic autoimmune diabetes. The aim of this study is to elucidate the etiology and frequency of monogenic diabetes in a large diabetes database in Ukraine diagnosed after 9 months of age. We established a Monogenic Diabetes Register to identify patients with a clinical suspicion of MODY. 141 patients with diabetes diagnosed between 9 months and 32...
DYRK1A-related intellectual disability syndromeCase Histories
Kateřina Slabá, Hana Pálová, Petra Pokorná, Ondřej Slabý, Petra Konečná, Lucie Kolbová, Petr Jabandžiev, Dagmar Procházková
Čes-slov Pediat 2022, 77(4):215-218 | DOI: 10.55095/CSPediatrie2022/035
DYRK1A-related intellectual disability syndrome is an autosomal dominant disorder characterized by intellectual disability including impaired speech development, autism spectrum disorder, and microcephaly. Affected individuals often have a clinically recognizable phenotype including typical craniofacial dysmorphism, feeding problems, hypertonia, short stature, gait disturbances, and foot anomalies. Other medical concerns relate to febrile seizures in infancy with later development of epilepsy. This case report aims to present a case of a three-year-old girl with DYRK1A syndrome. Since there were no additional diagnostic methods available and...
Fabry disease in childhood - overview and a case reportCase Histories
Petr Munzar, Stella Mazurová, Zora Dubská
Čes-slov Pediat 2022, 77(4):219-225 | DOI: 10.55095/CSPediatrie2022/036
Fabry disease is a rare lysosomal storage disorder leading to glycosphingolipid accumulation in most of tissues. Its singns and symptoms are quite distinctive, particulary in childhood. It is possible and so imperative to detect the disease at young age and start the enzyme replacement therapy to decrease the risk of late complication development in adulthood. The article offers a brief descriptio n of the disease and an illustrative case report of 12-years-old boy.
The clinical phenotype and genetic diagnosis of a rare cutis laxa syndrome in a newborn with multiple anomaliesCase Histories
Nina Lenhartová, Jana Kršiaková, Katarína Maťašová, Mirko Zibolen
Čes-slov Pediat 2022, 77(4):226-231 | DOI: 10.55095/CSPediatrie2022/037
De Barsy syndrome, also known as cutis laxa type III (ARCL3), is a rare genetic syndrome with autosomal recessive inheritance pattern, characterised by dysmorphic facial features, progeroid appearance, stretchy wrinkly skin, prenatal and postnatal growth retardation and intellectual disability, along with eye anomalies, atethoid movements and hyperreflexia. With many of its symptoms manifesting at birth, it should be considered when a clinical geneticist is confr onted with progeroid appearance in a neonate. The diagnostic algorithm includes assessment of the clinical phenotype as the child develops, testing for micro- and submicroscopic chromosomal...
Patient with Williams-Beuren syndrome in paediatrician's officeMeet the patient
Wanda Urbanová, Hana Kubíková, Ivana Dubovská, Petr Chramosta, Jana Pelánová
Čes-slov Pediat 2022, 77(4):232-235 | DOI: 10.55095/CSPediatrie2022/038
Williams-Beuren syndrome is a multisystemic disorder caused by a microdeletion of the long arm of chromosome 7. Characteristic features of this syndrome include distinctive facial dysmorphism, cardiovascular system anomalies, growth retardation, delayed psychomotoric development and mild to moderate mental deficiency. Early diagnosis is essential for targeted treatment. The care of a patient with Williams-Beuren syndrome requires regular check-ups performed by paediatrician together with other specialists.
Differential diagnosis of microscopic hematuriaPediatrické postupy v praxi
Patrik Konopásek, Vlasta Krejčová, Jakub Zieg
Čes-slov Pediat 2022, 77(4):236-240 | DOI: 10.55095/CSPediatrie2022/039
Microscopic hematuria is a relatively common diagnosis in the pediatric nephrologist's office and it is often first detected by a general pediatrician. The etiology of microscopic hematuria is usually benign, but more severe conditions need to be ruled out, such as glomerulonephritis or systemic disease, these are commonly characterized by the presence of proteinuria, hypertension or deterioration of renal function. In this article, we present basic differential diagnosis with a brief description of the causes of microscopic hematuria and complementary tests. This review aims to provide a short guidance for general pediatricians and medical specialists.
Hyperthermia, its causes and risks from the pathophysiologist's perspectivePathophysiology in pediatrics
Klára Bernášková
Čes-slov Pediat 2022, 77(4):241-245 | DOI: 10.55095/CSPediatrie2022/040
Hyperthermia, the risk of which is increasing in our geographical area due to climate change, is associated with a high risk of morbidity and mortality. High ambient temperatures activate thermoregulation, altering the body's homeostasis and causing different symptoms depending on the degree of heat stress. Extreme hyperthermia triggers the vicious circle, which gradually leads to exhaustion of th ermoregulatory capacity, impairment of vital organ function and death. It is a heat stroke that can result from simple overheating (CHS) or physical exertion in a hot environment (EHS). According to statistics, seniors and children are most at risk of hyperthermia.
Sepsis in childrenKapitoly k atestaci z pediatrie
Jiří Fremuth, Lumír Šašek, Michal Huml, Alexandra Kotková, Jan Forejt, Josef Sýkora
Čes-slov Pediat 2022, 77(4):246-254 | DOI: 10.55095/CSPediatrie2022/041
Despite advances in medicine, even in the 21st century, sepsis remains one of the main factors contributing to morbidity and mortality in childhood. The issue of sepsis in children has its own specifics. The aim of the article is to describe in a clear and comprehensive form the definition, etiology, epidemiology, pathophysiology, clinical picture, diagnosis and initial phase of treatment of sepsis outside the newborn age.
Za MUDr. Janem Škovránkem, CSc.Personal News
Jan Janoušek, Jan Marek, Václav Chaloupecký, Oleg Reich
Čes-slov Pediat 2022, 77(4):255
Pediatrická poezie - Sonet o dialektice života
Jiří Žáček
Čes-slov Pediat 2022, 77(4):256