• MeSH
• dítě MeSH
• dvojčata dizygotní * MeSH
• dvojčata monozygotní * MeSH
• dvojčata * MeSH
• lidé MeSH
• mladiství MeSH
• noha (od hlezna dolů) MeSH
• reakční čas * MeSH
• ruka MeSH
• těhotenství MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

We examined ischemic and hyperventilation tests in 14 pairs of healthy twins. In 3 of them we found different results of positivity or negativity of these tests. Women had signs of higher irritability of the wave M than men as concerned latency, amplitude, duration; the strength of stimulus was significantly lower in females than in males.

• MeSH
• dvojčata * MeSH
• elektrická stimulace MeSH
• elektromyografie * MeSH
• hyperventilace patofyziologie   MeSH
• ischemie patofyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nervus ulnaris patofyziologie   MeSH
• reakční čas MeSH
• ruka krevní zásobení   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder with hypersensitivity to ionising radiation. The clinical phenotype is characterised by congenital microcephaly, mild dysmorphic facial appearance, growth retardation, immunodeficiency, and greatly increased risk for lymphoreticular malignancy. Most NBS patients are of Slavic origin and homozygous for the founder mutation 657del5. The frequency of 657del5 heterozygotes in the Czech population is 1:150. Recently, another NBS1 mutation, 643C>T(R215W), with uncertain pathogenicity was found to have higher frequency among tumour patients of Slavic origin than in controls. This alteration results in the substitution of the basic amino acid arginine with the non-polar tryptophan and thus could potentially interfere with the function of the NBS1 protein, nibrin. METHODS AND RESULTS: Children with congenital microcephaly are routinely tested for the 657del5 mutation in the Czech and Slovak Republics. Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations. Both children showed reduced expression of full length nibrin when compared with a control and a heterozygote for the 657del5 mutation. Radiation response processes such as phosphorylation of ATM and phosphorylation/stabilisation of p53, which are promoted by NBS1, are strongly reduced in cells from these patients. CONCLUSIONS: Interestingly, the patients are more severely affected than classical NBS patients. Consequently, we postulate that homozygosity for the 643C>T(R215W) mutation will also lead to a, possibly very, severe disease phenotype.

• MeSH
• chromozomální nestabilita MeSH
• fosforylace MeSH
• geny recesivní MeSH
• jaderné proteiny genetika   metabolismus   MeSH
• lidé MeSH
• mapování chromozomů * MeSH
• mikrocefalie genetika   MeSH
• mutace * MeSH
• nemoci u dvojčat MeSH
• polymerázová řetězová reakce MeSH
• proteiny buněčného cyklu genetika   metabolismus   MeSH
• substituce aminokyselin MeSH
• syndrom Nijmegen breakage genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• jaderné proteiny MeSH
• NBN protein, human MeSH Prohlížeč
• proteiny buněčného cyklu MeSH

This paper presents computer and color vision research focusing on human color perception in VR environments. A VR art gallery with digital twins of original artworks is created for this experiment. In this research, the field of colorimetry and the application of the L*a*b* and RGB color models are applied. The inter-relationships of the two color models are applied to create a color modification of the VR art gallery environment using C# Script procedures. This color-edited VR environment works with a smooth change in color tone in a given time interval. At the same time, a sudden change in the color of the RGB environment is defined in this interval. This experiment aims to record a user's reaction embedded in a VR environment and the effect of color changes on human perception in a VR environment. This research uses lie detector sensors that record the physiological changes of the user embedded in VR. Five sensors are used to record the signal. An experiment on the influence of the user's color perception in a VR environment using lie detector sensors has never been conducted. This research defines the basic methodology for analyzing and evaluating the recorded signals from the lie detector. The presented text thus provides a basis for further research in the field of colors and human color vision in a VR environment and lays an objective basis for use in many scientific and commercial areas.

• Klíčová slova
• 3D model, art digitization, art gallery, artwork, color model, digital twins, gamut, lie detector, polygraph, sensors, signals, virtual reality,
• Publikační typ
• časopisecké články MeSH

Since 2012-2016 an increased number of listeriosis cases, especially from one region of the Czech Republic, were observed. Most of them were caused by strains of serotype 1/2a, clonal complex 8, indistinguishable by pulsed-field gel electrophoresis. Twenty-six human cases were reported, including two neonatal cases in twins. Three cases were fatal. The typing of Listeria monocytogenes isolates from food enabled to confirm a turkey meat delicatessen as the vehicle of infection for this local outbreak in the Moravian-Silesian Region. The food strains belonging to identical pulsotype were isolated from ready-to-eat turkey meat products packaged by the same producer between 2012 and 2016. This fact confirms that the described L. monocytogenes outbreak strain probably persisted in the environment of the aforementioned food-processing plant over several years. Whole-genome sequencing confirmed a very close relationship (zero to seven different alleles) between isolates from humans, foods and swabs from the environment of the food-processing plant under investigation.

• Klíčová slova
• Listeria monocytogenes, molecular epidemiology, whole-genome sequencing,
• MeSH
• aglutinační testy MeSH
• dítě MeSH
• dospělí MeSH
• epidemický výskyt choroby * MeSH
• incidence MeSH
• kojenec MeSH
• krocani mikrobiologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• Listeria monocytogenes klasifikace   genetika   MeSH
• listeriové infekce epidemiologie   etiologie   MeSH
• masné výrobky mikrobiologie   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• multilokusová sekvenční typizace MeSH
• multiplexová polymerázová řetězová reakce MeSH
• předškolní dítě MeSH
• restrikční mapování MeSH
• sekvenování celého genomu MeSH
• senioři MeSH
• sérotypizace MeSH
• zvířata MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH