On-surface synthesis is a promising strategy for the preparation of molecules that are not achievable otherwise. Understanding the mechanism of on-surface reactions requires knowledge of the molecular structure and possible organization of reactants into supramolecular assemblies during the reaction. Scanning probe techniques are essential for the unambiguous identification of the products and for determining their electronic and magnetic properties. However, these are generally not capable of imaging the surface at reaction conditions and, therefore, answering some of the key questions about the reaction mechanism. Here, we show that real-time low-energy electron microscopy (LEEM) can monitor the surface processes in real time and provide the necessary complementary mechanistic insights into on-surface reactions. We monitor the intramolecular ring-closure reaction of 1,3,5-tris(7-methyl-α-carbolin-6-yl)benzene on the Au(111) surface and show that it takes place in the 2D molecular gas phase at elevated temperatures. Products condense into separate islands upon cooling, enabling fast and efficient assessment of product yields. This makes LEEM an efficient tool for studying intramolecular chemical reactions.

• Klíčová slova
• Chirality, Low-Energy Electron Microscopy, On-Surface Synthesis, Scanning Probe Microscopy,
• Publikační typ
• časopisecké články MeSH

• Publikační typ
• časopisecké články MeSH

The interface between a metal electrode and an organic semiconductor (OS) layer has a defining role in the properties of the resulting device. To obtain the desired performance, interlayers are introduced to modify the adhesion and growth of OS and enhance the efficiency of charge transport through the interface. However, the employed interlayers face common challenges, including a lack of electric dipoles to tune the mutual position of energy levels, being too thick for efficient electronic transport, or being prone to intermixing with subsequently deposited OS layers. Here, we show that monolayers of 1,3,5-tris(4-carboxyphenyl)benzene (BTB) with fully deprotonated carboxyl groups on silver substrates form a compact layer resistant to intermixing while capable of mediating energy-level alignment and showing a large insensitivity to substrate termination. Employing a combination of surface-sensitive techniques, i.e., low-energy electron microscopy and diffraction, X-ray photoelectron spectroscopy, and scanning tunneling microscopy, we have comprehensively characterized the compact layer and proven its robustness against mixing with the subsequently deposited organic semiconductor layer. Density functional theory calculations show that the robustness arises from a strong interaction of carboxylate groups with the Ag surface, and thus, the BTB in the first layer is energetically favored. Synchrotron radiation photoelectron spectroscopy shows that this layer displays considerable electrical dipoles that can be utilized for work function engineering and electronic alignment of molecular frontier orbitals with respect to the substrate Fermi level. Our work thus provides a widely applicable molecular interlayer and general insights necessary for engineering of charge injection layers for efficient organic electronics.

• Klíčová slova
• charge injection layers, energy levels, low-energy electron microscopy, photoelectron spectroscopy, scanning tunneling microscopy, self-assembly, surfaces,
• Publikační typ
• časopisecké články MeSH

The worldwide outbreak of the novel 2019 coronavirus disease (COVID-19) has led to recognition of a new immunopathological condition: paediatric inflammatory multisystem syndrome (PIMS-TS). The Czech Republic (CZ) suffered from one of the highest incidences of individuals who tested positive during pandemic waves. The aim of this study was to analyse epidemiological, clinical, and laboratory characteristics of all cases of paediatric inflammatory multisystem syndrome (PIMS-TS) in the Czech Republic (CZ) and their predictors of severe course. We performed a retrospective-prospective nationwide observational study based on patients hospitalised with PIMS-TS in CZ between 1 November 2020 and 31 May 2021. The anonymised data of patients were abstracted from medical record review. Using the inclusion criteria according to World Health Organization definition, 207 patients with PIMS-TS were enrolled in this study. The incidence of PIMS-TS out of all SARS-CoV-2-positive children was 0.9:1,000. The estimated delay between the occurrence of PIMS-TS and the COVID-19 pandemic wave was 3 weeks. The significant initial predictors of myocardial dysfunction included mainly cardiovascular signs (hypotension, oedema, oliguria/anuria, and prolonged capillary refill). During follow-up, most patients (98.8%) had normal cardiac function, with no residual findings. No fatal cases were reported.Conclusions: A 3-week interval in combination with incidence of COVID-19 could help increase pre-test probability of PIMS-TS during pandemic waves in the suspected cases. Although the parameters of the models do not allow one to completely divide patients into high and low risk groups, knowing the most important predictors surely could help clinical management.

• Klíčová slova
• COVID-19, Incidence, MIS-C, Myocardial dysfunction, Predictors, Severe outcome,
• MeSH
• COVID-19 * komplikace   diagnóza   epidemiologie   MeSH
• dítě MeSH
• lidé MeSH
• pandemie MeSH
• prospektivní studie MeSH
• retrospektivní studie MeSH
• SARS-CoV-2 * MeSH
• syndrom systémové zánětlivé reakce MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

BACKGROUND: In Turner syndrome (TS), fluorescent in situ hybridization (FISH) karyotyping offers an alternative to classical karyotyping. OBJECTIVE: We tested the added value of FISH karyotyping from lymphocytes (mesodermal origin), buccal cells (ectodermal origin), and a rear-tongue smear (endodermal origin) to determine the 45,X cell line fraction and its impact on patient phenotype. DESIGN AND PATIENTS: Classical karyotyping and three FISH assays were done in 153 girls and women previously diagnosed with TS in four university hospitals. The 45,X cell line fraction was determined for each method and correlated with the major phenotypic signs. RESULTS: Classical karyotyping identified 45,X/46,XX mosaicism in 77/153 subjects (50%), 45,X monosomy in 52/153 (34%), and other karyotypes in 24/153 (16%). FISH from lymphocytes verified 45,X in 47/52 original cases, whereas 4/52 had 45,X/46,XX and 1/52 45,X/47,XYY mosaicism. The 45,X cell line fraction was higher in FISH from lymphocytes compared to classical karyotyping (median 86.4% vs. 70.0%; p < 0.001), while there was no difference for FISH from buccal or rear-tongue smear cells. The mean 45,X cell line fraction was more abundant in patients with several of the characteristic phenotypic signs compared to patients without them (p < 0.01), but the predictive power was insufficient. CONCLUSION: FISH analysis confirmed the findings of classical karyotyping; only a few 45,X monosomy cases were reclassified as mosaics. The 45,X cell line fraction did not show clinically meaningful prediction of the phenotype. FISH analysis of buccal or rear-tongue epithelial cells may be a non-inferior, less invasive alternative to classical karyotyping.

• Klíčová slova
• Cytogenetics, Fluorescence in situ hybridization, Germ layers, Karyotype, Phenotype, Turner syndrome,
• MeSH
• epitelové buňky MeSH
• hybridizace in situ fluorescenční MeSH
• karyotypizace MeSH
• lidé MeSH
• lymfocyty metabolismus   MeSH
• monozomie MeSH
• mozaicismus MeSH
• Turnerův syndrom * metabolismus   MeSH
• ústní sliznice MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

AIMS: Turner syndrome is the only chromosome monosomy that is postnatally compatible with life. The reported incidence of TS is 1 in 2500 liveborn girls. The phenotype of these girls is highly variable, with cardiac abnormalities being life-threatening defects. The aim of the study was to reveal the possible influence of the parental origin of the X chromosome in these patients on a selected phenotype that is associated with Turner syndrome. Selected symptoms and parameters were: a bicuspid aortic valve, aortic coarctation, lymphoedema, pterygium colli, coeliac disease, thyroiditis, otitis media, diabetes mellitus 2, renal abnormalities, spontaneous puberty, and IVF. METHODS: The X chromosome haplotype was determined for a group of 45,X patients verified by native FISH. A molecular diagnostic method based on the detection of different lengths of X chromosome-linked STR markers using the Argus X-12 QS kit was used to determine the X haplotype. RESULTS: Our results, analysed by Fisher's exact (factorial) test, suggest independence between the maternal/paternal origin of the inherited X chromosome and the presence of the anomalies that were studied (P=1 to P=0.34). CONCLUSION: In the group of 45,X patients, who were precisely selected by means of the native FISH method, no correlation was demonstrated with the parental origin of the X chromosome and the observed symptom.

• Klíčová slova
• Turner syndrome, chromosome X origin, haplotype, imprinting, karyotype, phenotype,
• MeSH
• chromozom X MeSH
• fenotyp MeSH
• haplotypy MeSH
• lidé MeSH
• Turnerův syndrom * genetika   MeSH
• vrozené srdeční vady * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

PURPOSE: Danon disease (DD) is a rare X-linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocular examination for identification of DD. METHODS: Detailed ocular examination in 10 patients with DD (3 males, 7 females) and a 45-year-old asymptomatic female somatic mosaic carrier of a LAMP2 disease-causing variant. RESULTS: All patients with manifest cardiomyopathy had pigmentary retinopathy with altered autofluorescence and diffuse visual field loss. Best corrected visual acuity (BCVA) was decreased (<0.63) in 8 (40%) out of 20 eyes. The severity of retinal pathology increased with age, resulting in marked cone-rod involvement overtime. Spectral-domain optical coherence tomography in younger patients revealed focal loss of photoreceptors, disruption and deposition at the retinal pigment epithelium/Bruch's membrane layer (corresponding to areas of marked increased autofluorescence), and hyperreflective foci in the outer nuclear layer. Cystoid macular oedema was seen in one eye. In the asymptomatic female with somatic mosaicism, the BCVA was 1.0 bilaterally. An abnormal autofluorescence pattern in the left eye was present; while full-field electroretinography was normal. CONCLUSIONS: Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of LAMP2 pathogenic variants, even in somatic mosaicism. Hence, further investigation should be undertaken in all patients with pigmentary retinal dystrophy as it may be a sign of a life-threatening disease.

• Klíčová slova
• LAMP2, Danon disease, autofluorescence, pigmentary retinopathy, somatic mosaicism, spectral-domain optical coherence tomography,
• MeSH
• dospělí MeSH
• elektroretinografie MeSH
• glykogenóza typu IIb komplikace   diagnóza   genetika   MeSH
• lidé MeSH
• membránový protein 2 asociovaný s lyzozomy biosyntéza   genetika   MeSH
• mladý dospělý MeSH
• optická koherentní tomografie metody   MeSH
• regulace genové exprese * MeSH
• retinální pigmentový epitel patologie   MeSH
• retinopathia pigmentosa diagnóza   etiologie   genetika   MeSH
• RNA genetika   MeSH
• rodokmen MeSH
• zraková ostrost * MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• LAMP2 protein, human MeSH Prohlížeč
• membránový protein 2 asociovaný s lyzozomy MeSH
• RNA MeSH

• MeSH
• ANCA-asociované vaskulitidy diagnóza   farmakoterapie   MeSH
• aortální chlopeň diagnostické zobrazování   chirurgie   MeSH
• aortální insuficience diagnostické zobrazování   chirurgie   MeSH
• aplikace orální MeSH
• dítě MeSH
• lidé MeSH
• methylprednisolon aplikace a dávkování   terapeutické užití   MeSH
• počítačová rentgenová tomografie metody   MeSH
• prednison aplikace a dávkování   terapeutické užití   MeSH
• rituximab aplikace a dávkování   terapeutické užití   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• methylprednisolon MeSH
• prednison MeSH
• rituximab MeSH

BACKGROUND: The progressive cardiomyopathy that develops in boys with Duchenne and Becker muscular dystrophy (DMD/BMD) is presumed to be a secondary consequence of the fibrosis within the myocardium. There are only limited data on using parametric imaging in these patients. The purpose of this study was to assess native T1 and extracellular volume (ECV) values in DMD patients. METHODS: The Czech population of males with DMD/BMD was screened. All eligible patients fulfilling the inclusion criteria were included. Forty nine males underwent cardiac magnetic resonance (MR) examination including T1 native and post-contrast mapping measurements. One DMD patient and all BMD patients were excluded from statistical analysis. Three groups were compared - Group D1 - DMD patients without late gadolinium enhancement (LGE) (n = 23), Group D2 - DMD patients with LGE (n = 20), and Group C - gender matched controls (n = 13). RESULTS: Compared to controls, both DMD groups had prolonged T1 native relaxation time. These results are concordant in all 6 segments as well as in global values (1041 ± 31 ms and 1043 ± 37 ms vs. 983 ± 15 ms, both p < 0.05). Group D2 had significantly increased global ECV (0.28 ± 0.044 vs. 0.243 ± 0.013, p < 0.05) and segmental ECV in inferolateral and anterolateral segments in comparison with controls. The results were also significant after adjustment for subjects' age. CONCLUSION: DMD males had increased native T1 relaxation time independent of the presence or absence of myocardial fibrosis. Cardiac MR may provide clinically useful information even without contrast media administration.

• Klíčová slova
• Cardiac magnetic resonance, Cardiomyopathy, Duchene muscular dystrophy, T1 mapping; extracellular volume,
• MeSH
• Duchennova muskulární dystrofie diagnostické zobrazování   MeSH
• gadolinium analýza   MeSH
• kardiomyopatie diagnostické zobrazování   MeSH
• lidé MeSH
• magnetická rezonanční tomografie metody   MeSH
• mladiství MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• gadolinium MeSH

Danon disease (DD) is an X-linked disorder caused by mutations in the lysosomal-associated membrane protein 2 (LAMP2) gene (Xq24). DD is characterized by cognitive deficit, myopathy, and cardiomyopathy in male patients. The phenotype is variable and mitigated in females. The timely identification of de-novo LAMP2 mutated family members, many of whom are heterozygous females, remains critical for their treatment and family counseling. DD laboratory testing builds on minimally invasive quantification of the LAMP2 protein in white blood cells and characterization of the specific mutation. This integrative approach is particularly helpful when assessing suspect female heterozygotes. LAMP2 exon-copy number variations (eCNVs) were so far reported only in X-hemizygous male DD probands. In heterozygous female DD probands, the wild-type allele may hamper the identification of an eCNV even if it results in the complete abolition of LAMP2 transcription and/or translation. To document the likely underappreciated rate of occurrence and point out numerous potential pitfalls of detection of the LAMP2 eCNVs, we present the first two DD heterozygote female probands who harbor novel multi-exon LAMP2 deletions. Critical for counseling and recurrence prediction, we also highlight the need to search for somatic-germinal mosaicism in DD families.

• Klíčová slova
• Danon disease, X-chromosome, exon-copy number variations, female heterozygotes, flow cytometry, lysosomal-associated membrane protein 2,
• MeSH
• dítě MeSH
• dospělí MeSH
• exony genetika   MeSH
• glykogenóza typu IIb genetika   MeSH
• heterozygot MeSH
• lidé MeSH
• membránový protein 2 asociovaný s lyzozomy genetika   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• rodina MeSH
• rodokmen MeSH
• sekvence nukleotidů MeSH
• variabilita počtu kopií segmentů DNA genetika   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• LAMP2 protein, human MeSH Prohlížeč
• membránový protein 2 asociovaný s lyzozomy MeSH