Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of disease 2019 (COVID-19) which associated with nonspecific syndromes, varying from mild symptoms upper airway to required mechanical ventilation hypoxemia. A unique feature this COVID-19-associated coagulopathy (CAC) that linked severity and hospital mortality. These patients have a profound hypercoagulable state in sev...

primary growth hormone insensitivity syndrome (ghis) is a rare entity which can be due to defects in growth hormone (gh) receptor that is called type 1 laron syndrome (t1ls) or post receptor defects (type 2 laron syndrome ). the aim of study was determining the clinical and hormonal milieu of the patients with primary ghis and their response to igf-i (insulin like growth factor-i) generation te...

Syndróm GLUT1 deficiencie je zriedkavé neurometabolické ochorenie mozgu vznikajúce pri poruche transportu glukózy cez hematoencefalickú bariéru. Keďže mozog takmer úplne závislý od dodávky ako hlavného zdroja energie a hlavným transportérom bariéru, klasický typ ochorenia sa prejavuje závažnými dôsledkami neuroglykopénie: včasnou neurovývojovou encefalopatiou s epilepti...

Haemolytic-uraemic syndrome is a clinical syndrome characterized by thrombocytopaenia, non-autoimmune haemolytic anaemia and renal impairment. Pathological alterations in kidney samples show thrombotic microangiopathy. The underlying pathogenesis is endothelial cell injury with thrombotic occlusion of the arterioles and capillaries. A variety of causes have been identified, associated with infe...

A 7 year old boy with DeSanctis-Cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.