96 research outputs found

    Quantitative genetics of sleep in inbred mice

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    The timing and the organization of sleep architecture are mainly controlled by the circadian system, while sleep need and intensity are regulated by a homeostatic process. How independent these two systems are in regulating sleep is not well understood. In contrast to the impressive progress in the molecular genetics of circadian rhythms, little is known about the molecular basis of sleep. Nevertheless, as summarized here, phenotypic dissection of sleep into its most basic aspects can be used to identify both the single major genes and small effect quantitative trait loci involved. Although experimental models such as the mouse are more readily amenable to genetic analysis of sleep, similar approaches can be applied to humans

    Novel and heteroplasmic mutations in mitochondrial tRNA genes in Brugada syndrome

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      Background: Brugada syndrome (BrS) is a rare cardiac arrhythmia characterized by sudden death associated with electrocardiogram patterns characterized by incomplete right bundle-branch block and ST-segment elevations in the anterior precordial leads. This syndrome predominantly is seen in younger males with structurally normal hearts. Mitochondrial variants particularly mt-tRNA mutations, are hot spots that lead to cardiological disorders. Previous studies have shown that mutations in mitochondrial tRNA genes play an important causal or modifying role in BrS. The present study aims to evaluate the involvement of mitochondrial tRNA genes in arrhythmogenic BrS. Methods: In this study, 40 Iranian patients were investigated for the presence of the mutations in 6 mitochondrial tRNA genes (tRNA Ile, Met, Gln, Asn, Ala and Trp) by PCR-SSCP analysis. Results: There were 4 mutations in tRNA genes, that for first time, were found in BrS patients and these mutations were not in controls. Three of them were heteroplasmic and located in tRNAGln (T4377A) and tRNAMet (G4407A and C4456T) which were assessed as pathogenic mutations. A homo­plasmic variant (5580T > C) in tRNATrp gene was located within the junction region between tRNATrp and tRNAAla genes. This mutation may disturb the processing of mt-tRNATrp. Conclusions: The results of this study suggest that mutations in mitochondrial tRNA genes might lead to deficiencies in translational process of critical proteins of the respiratory chain and potentially lead to BrS in Iranian subjects. (Cardiol J 2018; 25, 1: 113–119

    LMOD3 gene variant in familial periodic hypersomnolence.

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    INTRODUCTION Kleine-Levin syndrome (KLS) is a rare and debilitating disorder presenting with periodic hypersomnolence, cognitive, psychiatric and behavioral disturbances. In the absence of biomarkers it can be difficult to diagnose. Rare LMOD3 variants in a family and in seven sporadic cases with KLS have been described. Here we report a patient and her family with an unclassified, familial, periodic central disorder of hypersomnolence (CDH) in whom the presence of a LMOD3 gene variant was assessed. CASE DESCRIPTION The female patient presented since early adulthood with recurrent episodes of hypersomnolence. Over more than 20 years of follow-up the diagnoses of idiopathic hypersomnia, KLS and hypersomnia associated with a psychiatric condition were made. The family history is positive for periodic hypersomnolence and psychiatric conditions. The patient, her symptomatic mother and her asymptomatic sister carried a Proline for Histidine substitution at codon 552 of the LMOD3-gene. This variant was previously reported in two sporadic KLS patients and its frequency in the general population is below 0.02%. DISCUSSION We report the association of periodic hypersomnia with a polymorphism of the LMOD3-gene in a patient with atypical KLS and a positive family history. Further research is needed to assess the pathological and predictive value of LMOD3 variants in KLS

    Source inference of exogenous gamma-hydroxybutyric acid (GHB) administered to humans by means of carbon isotopic ratio analysis: novel perspectives regarding forensic investigation and intelligence issues

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    γ-Hydroxybutyric acid (GHB) is an endogenous short-chain fatty acid popular as a recreational drug due to sedative and euphoric effects, but also often implicated in drug-facilitated sexual assaults owing to disinhibition and amnesic properties. Whilst discrimination between endogenous and exogenous GHB as required in intoxication cases may be achieved by the determination of the carbon isotope content, such information has not yet been exploited to answer source inference questions of forensic investigation and intelligence interests. However, potential isotopic fractionation effects occurring through the whole metabolism of GHB may be a major concern in this regard. Thus, urine specimens from six healthy male volunteers who ingested prescription GHB sodium salt, marketed as Xyrem®, were analysed by means of gas chromatography/combustion/isotope ratio mass spectrometry to assess this particular topic. A very narrow range of δ13C values, spreading from −24.81‰ to −25.06‰, was observed, whilst mean δ13C value of Xyrem® corresponded to −24.99‰. Since urine samples and prescription drug could not be distinguished by means of statistical analysis, carbon isotopic effects and subsequent influence on δ13C values through GHB metabolism as a whole could be ruled out. Thus, a link between GHB as a raw matrix and found in a biological fluid may be established, bringing relevant information regarding source inference evaluation. Therefore, this study supports a diversified scope of exploitation for stable isotopes characterized in biological matrices from investigations on intoxication cases to drug intelligence programme

    Constant Power Generation in Cascaded H-Bridge Inverter-based Photovoltaic Systems Based on Flexible Power Point Tracking

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    Traditionally, photovoltaic power plants use Maximum Power Point Tracking (MPPT) algorithms to produce maximum electrical energy. However, with the increase of grid-installed photovoltaic power plants, power system operators have faced new challenges such as overload, overvoltage, and proper performance during grid voltage disturbances. As a result, network standards and codes have been updated in the direction of photovoltaic systems that are more controllable and compatible with the network. To provide various grid support functions, such as frequency response and voltage support, the Constant Power Generation (CPG) control algorithm is established by grid codes. For this purpose, MPPT algorithms have been replaced by flexible power point tracking (FPPT) algorithms. This paper proposes an algorithm to control photovoltaic systems based on a multi-level cascaded full-bridge (CHB) inverter to achieve constant power generation control by the FPPT method. The required power reference is distributed among the sub-modules of the CHB converter according to the available power of each sub-module in such a way that, as much as possible, each sub-module is loaded equally. Then, the FPPT algorithm with an adaptive voltage step is used to set the power of each sub-module in its reference value. The voltage step is calculated adaptively based on the observed condition (transient or steady state) so that the tracking performance has fast dynamics. The effectiveness of the proposed algorithm is evaluated by simulating a 500-kW photovoltaic system directly connected to a 4.7 kV grid

    Effect of transnasal insufflation on sleep disordered breathing in acute stroke: a preliminary study

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    Background and Purpose: Sleep disordered breathing (SDB) is frequent in acute stroke patients and is associated with early neurologic worsening and poor outcome. Although continuous positive airway pressure (CPAP) effectively treats SDB, compliance is low. The objective of the present study was to assess the tolerance and the efficacy of a continuous high-flow-rate air administered through an open nasal cannula (transnasal insufflation, TNI), a less-intrusive method, to treat SDB in acute stroke patients. Methods: Ten patients (age, 56.8 ± 10.7years), with SDB ranging from moderate to severe (apnea-hypopnea index, AHI, >15/h of sleep) and on a standard sleep study at a mean of 4.8 ± 3.7days after ischemic stroke (range, 1-15days), were selected. The night after, they underwent a second sleep study while receiving TNI (18L/min). Results: TNI was well tolerated by all patients. For the entire group, TNI decreased the AHI from 40.4 ± 25.7 to 30.8 ± 25.7/h (p = 0.001) and the oxygen desaturation index >3% from 40.7 ± 28.4 to 31 ± 22.5/h (p = 0.02). All participants except one showed a decrease in AHI. The percentage of slow-wave sleep significantly increased with TNI from 16.7 ± 8.2% to 22.3 ± 7.4% (p = 0.01). There was also a trend toward a reduction in markers of sleep disruption (number of awakenings, arousal index). Conclusions: TNI improves SDB indices, and possibly sleep parameters, in stroke patients. Although these changes are modest, our findings suggest that TNI is a viable treatment alternative to CPAP in patients with SDB in the acute phase of ischemic strok

    Effect of Rootstock and Different Amounts of Vermicompost In Media on Yield and Qualitative Characteristics of Tomato

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    The effects of grafting and vermicompost on yield and quality of tomato were studied by a factorial experiment based on completely randomized design with 4 replication in research greenhouse of Mohaghegh Ardabili University at 2013. Rootstocks (none-grafting, grafting on ‘Yedi’ and ‘KingKong’) and five volume of vermicompost (0, 15, 30, 45 and 60%) in substrate were considered as experimental factors. For this purpose, traits such as number of flower and truss, growth duration of fruits, number of fruits, fruits mean weight, fruit yield, TSS and TA of fruits, phosphorous and potassium content of aerial parts of plants were measured. Results showed that flowering in grafted plants significantly retarded in comparison to non-grafted plants. Addition of vermicompost into substrate significantly increased number of flowers, panicles and fruits per each plant, TSS and TA but mean weight and size of fruits was decreased. Application of vermicompost improved phosphorous and potassium content in aerial parts of plants. Interaction between grafting and vermicompost was significant on yield and growth duration of plants. In general, we can say that grafting on ‘KingKong’  and ‘Yedi’ rootstocks and application of vermicompost can improve yield and quality of tomato plants

    Theoretical extension of elastic-perfectly plastic deformation length in roll forming of a channel section

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    In this paper, the Young’s modulus and the yield strength of the strip are considered in order to modify the deformation length analysis proposed by Bhattacharyya et al. New analytical equations are developed assuming an elastic-perfectly plastic material behaviour and the deformation length analysed for the simple case of roll forming a U-channel; the analytical results are verified by comparison with experimental data found in the literature. The proposed elastic-plastic deformation length is shorter than Bhattacharyya’s which is rigid-perfectly plastic. It is observed that the influence of elastic properties on the deformation length is not as significant as the plastic properties; however, the authors believe that the elastic effects become more important under conditions where a major area of the strip is under elastic deformation such as when the flange length is long

    Lauflumide (NLS-4) Is a New Potent Wake-Promoting Compound

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    Psychostimulants are used for the treatment of excessive daytime sleepiness in a wide range of sleep disorders as well as in attention deficit hyperactivity disorder or cognitive impairment in neuropsychiatric disorders. Here, we tested in mice the wake-promoting properties of NLS-4 and its effects on the following sleep as compared with those of modafinil and vehicle. C57BL/6J mice were intraperitoneally injected with vehicle, NLS-4 (64 mg/kg), or modafinil (150 mg/kg) at light onset. EEG and EMG were recorded continuously for 24 h after injections and vigilance states as well as EEG power densities were analyzed. NLS-4 at 64 mg/kg induced significantly longer wakefulness duration than modafinil at 150 mg/kg. Although no significant sleep rebound was observed after sleep onset for both treatments as compared with their vehicles, modafinil-treated mice showed significantly more NREM sleep when compared to NLS-4. Spectral analysis of the NREM EEG after NLS-4 treatment indicated an increased power density in delta activity (0.75–3.5 Hz) and a decreased power in theta frequency range (6.25–7.25 Hz), while there was no differences after modafinil treatment. Also, time course analysis of the delta activity showed a significant increase only during the first 2 time intervals of sleep after NLS-4 treatment, while delta power was increased during the first 9 time intervals after modafinil. Our results indicate that NLS-4 is a highly potent wake-promoting drug with no sign of hypersomnia rebound. As opposed to modafinil, recovery sleep after NLS-4 treatment is characterized by less NREM amount and delta activity, suggesting a lower need for recovery despite longer drug-induced wakefulness

    Explaining Marital Satisfaction Based ‎on Cultural Capital Considering ‎the ‎Mediating Role of Social Capital ‎and Psychological Capital among ‎Teachers in ‎Yazd Province

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    The aim of this study is to elucidate the relationship between marital satisfaction and cultural capital, with psychological and social capital among educators serving as mediators. The present study is descriptive-correlational in nature and applied in intent. The study’s statistical population comprised Yazd-residing educators in 2021. A method of available and purposeful sampling was utilized to select the sample. The sample size of 300 individuals was ascertained through the utilization of structural equations. ENRICH Marital Ssatisfaction (EMI) Scale, Psychological Capital Questionnaires (PCQ), Cultural Capital Scale (CCS), and family social capital (FSCQ) questionnaires were utilized in the research. The online questionnaire was developed and disseminated to participants via accessible virtual social networks; a total of 284 individuals participated in the survey. The data analysis and generation of descriptive indices and a correlation matrix were conducted using SPSS version 23 software. For fitting partial least squares structural equation modeling (PLS-SEM), SmartPLS3 software was employed. The results showed that marital satisfaction is positively predicted by psychological capital and negatively predicted by cultural capital. There was no correlation between social capital and marital contentment. Marital satisfaction can be predicted by social capital via psychological capital. Although cultural capital has a direct negative relationship with marital satisfaction, it can indirectly contribute to marital satisfaction via social and cultural capital
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