OBJECTIVES: Dignity of patients with early-stage dementia (PwESD) is a core value of person-centered care. To evaluate the effectiveness of the intervention programs targeted at this population, a reliable tool that would measure dignity in PwESD is needed. Based on a qualitative analysis of how PwESD perceive and experience dignity, this study aims to determine the adequacy of the Czech version of the Patient Dignity Inventory (PDI-CZ) for this patient population. METHOD: The sample from two outpatient clinics in Czechia included home-dwelling individuals aged 60 years or older with mild dementia. In the first interview (T1), there were 21 respondents; 10 of whom participated in the second interview (T2) that was conducted after 12 months. The qualitative material was analyzed using a deductive approach based on the PDI-CZ domains. RESULTS: Thematic analysis shows that the PwESD thematized all domains of the PDI-CZ in their interviews and their views of dignity were stable over time. Some experiences were not considered in the PDI-CZ (such as lowered support of the society, lowered ability to advocate for oneself, or feeling of not suitable living conditions). CONCLUSION: When developing a revised version of the tool, items that reflect missing views of dignity should be included.

• MeSH
• demence * psychologie   MeSH
• důstojnost lidského života * MeSH
• kvalitativní výzkum MeSH
• lidé středního věku MeSH
• lidé MeSH
• longitudinální studie MeSH
• samostatný způsob života * MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• uznání * MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

BACKGROUND: Congenital skeletal abnormalities are a heterogeneous group of diseases most commonly associated with small or disproportionate growth, cranial and facial dysmorphisms, delayed bone maturation, etc. Nonetheless, no detailed genotype-phenotype correlation in patients with specific genetic variants is readily available. Ergo, this study focuses on the analysis of patient phenotypes with candidate variants in genes involved in bone growth as detected by molecular genetic analysis. METHODS: In this study we used molecular genetic methods to analyse the ACAN, COL2A1, FGFR3, IGFALS, IGF1, IGF1R, GHR, NPR2, STAT5B and SHOX genes in 128 Czech children with suspected congenital skeletal abnormalities. Pathogenic variants and variants of unclear clinical significance were identified and we compared their frequency in this study cohort to the European non-Finnish population. Furthermore, a prediction tool was utilised to determine their possible impact on the final protein. All clinical patient data was obtained during pre-test genetic counselling. RESULTS: Pathogenic variants were identified in the FGFR3, GHR, COL2A1 and SHOX genes in a total of six patients. Furthermore, we identified 23 variants with unclear clinical significance and high allelic frequency in this cohort of patients with skeletal abnormalities. Five of them have not yet been reported in the scientific literature. CONCLUSION: Congenital skeletal abnormalities may lead to a number of musculoskeletal, neurological, cardiovascular problems. Knowledge of specific pathogenic variants may help us in therapeutic procedures.

• MeSH
• dítě MeSH
• frekvence genu genetika   MeSH
• genetické asociační studie MeSH
• kostra * metabolismus   MeSH
• lidé MeSH
• poruchy růstu * epidemiologie   genetika   metabolismus   MeSH
• protein SHOX genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

• MeSH
• autoimunitní nemoci klasifikace   terapie   MeSH
• autologní transplantace klasifikace   metody   MeSH
• hematopoetické kmenové buňky imunologie   MeSH
• klinická studie jako téma MeSH
• lidé MeSH
• rekonstituce imunitních funkcí imunologie   MeSH
• roztroušená skleróza diagnóza   imunologie   terapie   MeSH
• transplantace hematopoetických kmenových buněk * metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

The presence of wild-type RAS alleles, as determined by genotyping codons 12, 13, 59, 61, 117, and 146, is a prerequisite for personalized anti-EGFR treatment of metastatic colorectal cancer (mCRC) patients. Here we describe analytical validation of in-house developed massively parallel sequencing technology (MPS) in comparison to the in vitro diagnostics (IVD) certified qPCR method. DNA extracted from FFPE samples from CRC patients (n=703) and reference standards (n=33) were tested for KRAS and NRAS mutations in 6 codons of exons 2, 3, and 4 using deep amplicon sequencing (DAS) on a MiSeq benchtop sequencer (Illumina). Two different amplicon lengths and two different library preparation methods (long-RAS and short-RAS) were tested in order to evaluate their impact on DAS performance. In parallel, identical tumor DNA was tested by the following IVD assays: therascreen KRAS RGQ PCR Kit (Qiagen), cobas® KRAS Mutation Test (Roche Diagnostics), and SNaPshot assay (Thermo Fisher Scientific). Both DAS assays detected all the mutations present in reference standards and external quality control samples, except for the artificially generated KRAS codon 146 mutation. The DAS assays performed sufficient analytical specificity and sensitivity (≥0.95). The use of shorter amplicons prolonged the preparation steps but significantly improved the sequencing success rate of FFPE-derived DNA. RAS mutation frequencies in the Czech CRC patients were similar to previous reports, although rare mutations were also detected. DAS with short amplicons is a good strategy for routine assessment of somatic mutations in low-quality FFPE-derived DNA.

• MeSH
• exony MeSH
• GTP-fosfohydrolasy genetika   MeSH
• kolorektální nádory * genetika   MeSH
• lidé MeSH
• membránové proteiny genetika   MeSH
• mutace MeSH
• protoonkogenní proteiny p21(ras) * genetika   MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: Previous functional brain imaging studies have described various and contradictory activation findings in patients with panic disorder (PD). Our study focused on patients with a chronic PD, who were investigated and treated in a conventional manner, which represents the real PD patients in clinical practice. METHODS: Continuing their medication, patients were included in a six-week cognitive-behavioral therapy (CBT) program in the psychiatry department. At the onset of the study, participants underwent clinical evaluation using standard scales and were examined using fMRI while listening to verbal threat-related stimuli contrasted to neutral words. According to the therapeutic outcome, they were subsequently divided into two groups, responders, and nonresponders and the two groups were mutually compared. RESULTS: In non-responders compared to responders, we found increased pre-treatment activation in dorsolateral prefrontal cortex bilaterally, left orbitofrontal cortex, left frontal eye field, right parietal lobule and left amygdala. In addition, both groups showed negative fMRI BOLD correlation with BAI improvement and positive correlation with CGI improvement across the ROIs. We suggest that DLPFC over-activation may reveal a lack of cognitive control over emotional processing, which makes subsequent CBT less effective. CONCLUSION: Despite several limitations, we found neuroimaging predictors of poor CBT response, under the conditions of standard clinical practice, in real PD patients.

• MeSH
• amygdala patofyziologie   MeSH
• čelní lalok patofyziologie   MeSH
• dospělí MeSH
• hodnocení výsledků zdravotní péče * MeSH
• kognitivně behaviorální terapie metody   MeSH
• lidé MeSH
• magnetická rezonanční tomografie * MeSH
• panická porucha * diagnóza   patofyziologie   terapie   MeSH
• prognóza MeSH
• temenní lalok patofyziologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

AIM: The aim of this study was to determine whether there were any differences in intrathecal synthesis of immunoglobulin G (IgG) (IgG index) and number of oligoclonal bands (OCB) among particular types of multiple sclerosis (MS). METHODS: 120 cerebrospinal fluid (CSF) samples were examined from 29 clinically isolated syndrome (CIS) patients and 91 MS patients (77 patients with relapsing-remitting MS (RR), 6 patients with primary progressive course of the disease (PP) and 8 patients in secondary progression (SP)); mean age = 42 years (range = 18 to 70 years). Albumin and IgG in serum and CSF was evaluated using nephelometry; an albumin quotient (CSF albumin/serum albumin), an IgG quotient (CSF IgG/serum IgG) and an IgG index (IgG quotient / albumin quotient) were then calculated. OCB were assessed using isoelectric focusing (IEF) on agarose gel, followed by immunoblotting. All patients were evaluated using the Kurtzke Expanded Disability Status Scale (EDSS). RESULTS: No statistically significant differences between the IgG index and OC bands relative to particular types of MS were found. Further, there were no significant correlations between EDSS values and intrathecal synthesis (IgG index: QIgG / Qalbumin) and OC bands. CONCLUSION: No difference in intrathecal synthesis (IgG index) and the number of OCB between different types of MS was confirmed.

• MeSH
• chronicko-progresivní roztroušená skleróza krev   MeSH
• dospělí MeSH
• imunoglobulin G metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• oligoklonální proužky analýza   MeSH
• posuzování pracovní neschopnosti MeSH
• relabující-remitující roztroušená skleróza krev   MeSH
• roztroušená skleróza krev   MeSH
• senioři MeSH
• sérový albumin metabolismus   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND: Literature includes evidence of initial predominance of inflammation and later development of neurodegeneration in the pathogenesis of multiple sclerosis (MS). OBJECTIVE: To search for differences in inflammatory and degenerative cerebrospinal fluid (CSF) markers between relapsing-remitting MS (RRMS) and the clinical isolated syndrome (CIS). METHODS: A total of 148 subjects were evaluated, 65 MS patients (45 RRMS and 20 CIS) and 83 controls. The evaluated parameters included albumin quotient and prealbumin, transferrin, C3 and C4 complement factors, haptoglobin, beta-2-microglobulin, orosomucoid, alpha-1-antitrypsin, apolipoprotein A-I, apolipoprotein B, cystatin C, neuron-specific enolase, tau protein, beta-amyloid, oligoclonal IgG band (OCB), and IgG quotient (QIgG). RESULTS: No differences were found in the inflammatory and degenerative CSF markers between patients with RRMS and CIS. QIgG was higher in RRMS than that in CIS but the number of OCB was higher after CIS. Cystatin C levels were significantly lower in RRMS compared to the other groups. It can be considered an indicator of the demyelination degree. Normal values of beta-amyloid were less frequent in RRMS compared to those in controls.

• MeSH
• biologické markery MeSH
• degenerace nervu patologie   MeSH
• demyelinizační nemoci diagnóza   patologie   MeSH
• dospělí MeSH
• imunoglobuliny MeSH
• lidé středního věku MeSH
• lidé MeSH
• mediátory zánětu metabolismus   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• prediktivní hodnota testů MeSH
• proteiny nervové tkáně MeSH
• proteiny v mozkomíšním moku MeSH
• relabující-remitující roztroušená skleróza diagnóza   patologie   MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH

OBJECTIVES: The aim of our work was to assess the role of tau protein, beta amyloid and cystatin C in diagnosis of Alzheimer dementia (AD) and other neurodegenerative diseases (NDs). METHODS: The levels of tau protein, beta amyloid and cystatin C were assessed in a set of 79 patients with ND (38 men and 41 women; aged 22-90 years; mean, 61.6 +/- 15.6 years) and in a control group of 79 subjects with a healthy central nervous system (38 men and 41 women; aged 20-91 years; mean, 61.5 +/- 15.1 years). RESULTS: When compared with the subjects in the control group, a statistically significant decrease in tau protein levels was found in patients with ND, an increase in tau protein levels in patients with AD and an increase in cystatin C cerebrospinal fluid/serum index in the ND + AD group. DISCUSSION: Our work only confirmed the previously reported results in part. Although tau protein seems to be a quite reliable marker of AD, the role of beta amyloid in AD diagnosis remains at the least questionable. In the case of cystatin C, our results would seem to confirm the views of certain authors that cystatin C will probably not become a new 'revolutionary' marker contributing to differential diagnostics.

• MeSH
• Alzheimerova nemoc diagnóza   MeSH
• amyloidní beta-protein diagnostické užití   MeSH
• biologické markery MeSH
• cystatin C diagnostické užití   MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• ELISA MeSH
• lidé středního věku MeSH
• lidé MeSH
• neparametrická statistika MeSH
• proteiny tau diagnostické užití   MeSH
• referenční hodnoty MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• stárnutí MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• práce podpořená grantem MeSH