An interface based on electromyographic (EMG) signals is considered one of the central fields in human-machine interface (HCI) research with broad practical use. This paper presents the recognition of 13 individual finger movements based on the time-frequency representation of EMG signals via spectrograms. A deep learning algorithm, namely a convolutional neural network (CNN), is used to extract features and classify them. Two approaches to EMG data representations are investigated: different window segmentation lengths and reduction of the measured channels. The overall highest accuracy of the classification reaches 95.5% for a segment length of 300 ms. The average accuracy attains more than 90% by reducing channels from four to three.

• MeSH
• biomedicínské technologie metody   přístrojové vybavení   MeSH
• biomedicínský výzkum MeSH
• elektromyografie * metody   přístrojové vybavení   MeSH
• lidé MeSH
• počítačové zpracování signálu přístrojové vybavení   MeSH
• prsty ruky diagnostické zobrazování   inervace   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• přehledy MeSH

Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase. Deficient activity of the ATP7A protein results in decreased intestinal absorption of copper, low copper level in serum and defective distribution of copper in tissues. The clinical symptoms are caused by decreased activities of copper-dependent enzymes and include neurodegeneration, connective tissue disorders, arterial changes and hair abnormalities. Without therapy, the disease is fatal in early infancy. Rapid diagnosis of Menkes disease and early start of copper therapy is critical for the effectiveness of treatment. We report a molecular biology-based strategy that allows early diagnosis of copper transport defects and implementation of individual therapies before the full development of pathological symptoms. Low serum copper and decreased activity of copperdependent mitochondrial cytochrome c oxidase in isolated platelets found in three patients indicated a possibility of functional defects in copper-transporting proteins, especially in the ATPA7 protein, a copper- transporting P-type ATPase. Rapid mutational screening of the ATP7A gene using high-resolution melting analysis of DNA indicated presence of mutations in the patients. Molecular investigation for mutations in the ATP7A gene revealed three nonsense mutations: c.2170C>T (p.Gln724Ter); c.3745G>T (p.Glu1249Ter); and c.3862C>T (p.Gln1288Ter). The mutation c.3745G>T (p.Glu1249Ter) has not been identified previously. Molecular analysis of the ATOX1 gene as a possible modulating factor of Menkes disease did not reveal presence of pathogenic mutations. Molecular diagnostics allowed early onset of individual therapies, adequate genetic counselling and prenatal diagnosis in the affected families.

• MeSH
• ATPázy transportující měď genetika   metabolismus   MeSH
• biologické modely MeSH
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• měď krev   metabolismus   MeSH
• Menkesova choroba genetika   metabolismus   MeSH
• metalochaperony genetika   metabolismus   MeSH
• mutace genetika   MeSH
• transportní proteiny genetika   metabolismus   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Genetic studies of eating disorders (AN, BN and BED), which have a multifactorial etiology, require a more precise phenotyping of various subtypes. Therefore, the authors propose to add refinement of characteristic endophenotypes (neurophysiological correlates, measurement of pain, overactive and cognitive factors in pathological perception of own body). The genetic part of the project will address a battery of genes related to the development of AN and BN and/or modify their course and outcome. We will focus on genes influencing the central regulation of food intake and on stress, personality and autoaggressive factors: serotonin, dopamine and cannabinoid receptors, stress proteins (Hsp 70 and 32), neurotrophic factors, insulin-like growth factor-2; arginine vasopressin 1a receptor, COMT and polymorphisms within nNOS. In families with multiple disease precipitation, new method of exome sequencing will be used to search for novel genetic determinants responsible for fenotypic expression the disease.

Genetické studie poruch příjmu potravy (AN, BN a BED), které mají multifaktoriální příčinu vzniku, vyžadují upřesnění fenotypizace jednotlivých subtypů onemocnění a studie vztahů mezi nimi a vlivy enviromentu. Současná fenotypizace neodpovídá klinicky používané klasifikaci. Proto autoři navrhují přidat k sledování a upřesnění charakteristik endofenotypů (neurofyziologické koreláty, měření bolesti, hyperaktivity a kognitivních faktorů v patologickém vnímání vlastního těla) ještě koreláty genetické. V genetické části projektu budou studovány varianty baterie genů, související se vznikem AN a BN a/nebo modifikují jejich průběh a vyústění. Zaměříme se na geny ovlivňující centrální mechanismus regulace příjmu potravy, související se stresovými faktory: receptory serotoninu, dopaminu, stresové proteiny, neurotrofní faktor; insulin-like growth factor-2; COMT a poprvé u PPP i geny pro tvorbu plynných molekul, jejichž polymorfizmy podle některých studií ovlivňují chování.

• MeSH
• bulimia nervosa genetika   MeSH
• endofenotypy analýza   MeSH
• exom MeSH
• genetická predispozice k nemoci MeSH
• mentální anorexie genetika   MeSH
• metaanalýza jako téma MeSH
• nemoc vyvolaná prostředím MeSH
• poruchy příjmu potravy genetika   MeSH
• záchvatovité přejídání genetika   MeSH

• Konspekt
• Psychiatrie
• NLK Obory
• psychiatrie
• genetika, lékařská genetika
• environmentální vědy
• biologie
• NLK Publikační typ
• závěrečné zprávy o řešení grantu IGA MZ ČR

Haem oxygenase 1 (HO-1) plays a pivotal role in metabolic stress protecting cells in dependence on reactive oxygen species. This study investigated a potential gene environment interaction between the (GT)n repeat HO1 polymorphism and the stress perception in patients with eating disorder and in controls. Stress perception and (GT)n polymorphism were measured in 127 patients with eating disorders and in 78 healthy controls using Stress and Coping Inventory and genotyping. Based on the inventory, overall, specific and weighted stress scores were defined. Clinical stress score was generated according to the patient's history and interviews. According to our hypothesis, 1) all stress scores describing subjective stress perception were significantly higher in patients compared to controls (P ≤ 0.001; P ≤ 0.002; P ≤ 0.001), 2) the L/L genotype of GT promoter repeats (L < 25 GT repeats, S < 25 GT repeats) in the patients was associated with higher overall (P ≤ 0.001), specific (P ≤ 0.010) and weighted stress score (P ≤ 0.005) compared to the L/S variant, and 3) Pearson's correlation of clinical versus objective stress scores showed not very tight relationship (0.198; 0.287; 0.224, respectively). We assume potential risk of the L allele of HO1 promoter polymorphism for the stress response and contribution of the subjective stress perception together with the L/L genotype to the development of eating disorder. Decreased HO1 expression in the presence of L/L genotype plus more intensive stress perception in the patients can lead to secondary stress, with increasing severity of the symptoms and aggravation of the disease.

• MeSH
• hemoxygenasa-1 genetika   MeSH
• lidé MeSH
• poruchy příjmu potravy genetika   psychologie   MeSH
• promotorové oblasti (genetika) genetika   MeSH
• psychický stres psychologie   MeSH
• rizikové faktory MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

OBJECTIVE: Prediction of coronary atherosclerosis in patients with stable angina based on non-invasive examinations. METHODS: Pro-inflammatory markers, heme oxygenase-1 (HO-1) polymorphism, lipid levels, Framingham risk score (FRS), and carotid ultrasound were analyzed and compared to grayscale and virtual histology intravascular ultrasound (VH-IVUS). RESULTS: A total of 101 patients were included, and genetic analysis was performed on 81 patients (80.2%). The HO-1 risk polymorphism was more frequent in patients post-myocardial infarction (61.3% vs 32%; P=.0097), or with diabetes (68.4% vs 35.5%; P=.011) or a higher FRS (21.5 vs 15.7; P=.014). Plaques in patients with the HO-1 risk polymorphism contained less fibro-fatty tissue (17.1% vs 23.2%; P=.005) and more necrotic core (NC; 17.1% vs 12.7%; P=.02) and calcification (10.2% vs 5.7%; P=.035) compared to patients without the HO-1 risk polymorphism. Carotid intima media thickness (P=.05) and carotid bulb plaque (P=.008) predicted plaque burden. The level of Apo A inversely correlated with NC (P=.047; r = -0.27) and was lower in patients with VH-thin-cap fibroatheroma (VH-TCFA; 1.19 mmol/L vs 1.3 mmol/L; P=.04). FRS correlated with NC (P=.007; r = 0.2), with angiographic disease severity (P=.032; r = 0.21) and was higher in patients with VH-TCFA (9.1 vs 7.8; P=.03). CONCLUSION: Carotid ultrasound and HO-1 polymorphism improve coronary atherosclerosis prediction.

• MeSH
• apolipoproteiny A krev   MeSH
• biologické markery MeSH
• fyzikální vyšetření MeSH
• genetická predispozice k nemoci epidemiologie   MeSH
• hemoxygenasa-1 genetika   MeSH
• intimomediální šíře tepenné stěny MeSH
• lidé středního věku MeSH
• lidé MeSH
• nemoci arterie carotis ultrasonografie   MeSH
• nemoci koronárních tepen * epidemiologie   genetika   patologie   MeSH
• polymorfismus genetický * MeSH
• prediktivní hodnota testů MeSH
• rizikové faktory MeSH
• senioři MeSH
• stabilní angina pectoris * diagnóza   genetika   patologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• srovnávací studie MeSH

Previous studies suggested that increased activity of haem oxygenase 1 may ameliorate autoimmune neuroinflammation in experimental models of multiple sclerosis. This increased activity is associated with an augmented number of GT repeats (≥ 25) within the HMOX1 gene promoter. Here we examined 338 patients with multiple sclerosis to determine the influence of their HMOX1 gene promoter (GT)n polymorphism and other individual characteristics on the course of the disease. The patients were divided into those with “rapid” or “delayed” course, based on reaching expanded disability status scale step 4 within nine years of disease onset, and the correlations between the disease course and the investigated characteristics were sought using logistic regression analysis. No statistically significant effect of HMOX1 gene promoter (GT)n polymorphism on the rate of disability progression was found (P = 0.9). This was confirmed by Cox regression analysis, which did not find any difference in the cumulative risk of reaching expanded disability status scale step 4 between the patients with long and short HMOX1 gene promoter (P = 0.7). In contrast, covariates significantly associated with the faster disability progression were: progressive course of multiple sclerosis, shorter duration of disease-modifying treatment and older age at disease onset (P ≤ 0.04). The observed absence of effect of the HMOX1 promoter (GT)n polymorphism could be attributed to its known dualistic role in the pathogenesis of autoimmune disorders. As a secondary outcome, we have seen that disease-modifying drugs have the potential to delay disability progression in patients with multiple sclerosis.

• MeSH
• autoimunitní nemoci genetika   MeSH
• časové faktory MeSH
• dospělí MeSH
• genetické markery MeSH
• hemoxygenasa-1 genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• polymorfismus genetický MeSH
• prognóza MeSH
• progrese nemoci MeSH
• promotorové oblasti (genetika) MeSH
• proporcionální rizikové modely MeSH
• regresní analýza MeSH
• roztroušená skleróza genetika   metabolismus   MeSH
• věk při počátku nemoci MeSH
• zánět MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• práce podpořená grantem MeSH

• Publikační typ
• abstrakt z konference MeSH

The genetic basis for atherosclerosis development and progression is poorly characterized. We aimed to assess the relationship between endothelial nitric oxide synthase (ENOS) 894 G/T, haem oxygenase-1 (HO1) dinucleotide-length promoter polymorphisms and coronary artery atherosclerotic invol vement and its changes during statin therapy. Coronary angiography, intravascular ultrasound (IVUS), IVUS-derived virtual histology (VH) and genetic polymorphism analysis were performed at study entry. Patients were randomized 1:1 to standard or aggressive hypolipidaemic treatment, and a follow-up evaluation was performed after twelve months. Plaque magnitude was significantly higher in carriers of HO1 risk variants when compared with carriers of the protective variants (< 25 GT repeats). Similarly, the total coronary atherosclerotic burden was significantly greater in HO1 risk variant carriers than in HO1 protective variant carriers. Both parameters did not differ with respect to the ENOS genotype. A higher prevalence of thin-cap fibroatheroma (TCFA) in HO1 risk variant carriers was observed, compared with the HO1 protective variant carriers. The prevalence of TCFA was not influenced by the ENOS genotype. Baseline plaque composition did not differ significantly with respect to both polymorphisms. Significant interactions between plaque composition changes and ENOS and HO1 genotypes were observed during statin treatment. In conclusion, the protective HO1 promoter polymorphism correlates with a lower coronary artery plaque burden, whereas the protective ENOS 894 G/T polymorphism seems to favourably influence changes of coronary artery plaque composition during statin therapy, but has no significant correlation to the magnitude of coronary atherosclerosis.

• MeSH
• endoteliální buňky enzymologie   MeSH
• genetická variace MeSH
• genotyp MeSH
• hemoxygenasa-1 genetika   MeSH
• intervenční ultrasonografie MeSH
• koronární angiografie MeSH
• koronární cévy patologie   ultrasonografie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nemoci koronárních tepen diagnóza   enzymologie   genetika   MeSH
• polymorfismus genetický MeSH
• senioři MeSH
• synthasa oxidu dusnatého, typ III genetika   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• práce podpořená grantem MeSH

• Publikační typ
• abstrakt z konference MeSH