3,835 research outputs found

    Impulsivity and compulsivity in Internet gaming disorder: A comparison with obsessive–compulsive disorder and alcohol use disorder

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    Internet gaming disorder (IGD) is characterized by a loss of control and a preoccupation with Internet games leading to repetitive behavior. We aimed to compare the baseline neuropsychological profiles in IGD, alcohol use disorder (AUD), and obsessive–compulsive disorder (OCD) in the spectrum of impulsivity and compulsivity. Methods A total of 225 subjects (IGD, N = 86; AUD, N = 39; OCD, N = 23; healthy controls, N = 77) were administered traditional neuropsychological tests including Korean version of the Stroop Color–Word test and computerized neuropsychological tests, including the stop signal test (SST) and the intra–extra dimensional set shift test (IED). Results Within the domain of impulsivity, the IGD and OCD groups made significantly more direction errors in SST (p = .003, p = .001) and showed significantly delayed reaction times in the color–word reading condition of the Stroop test (p = .049, p = .001). The OCD group showed the slowest reading time in the color–word condition among the four groups. Within the domain of compulsivity, IGD patients showed the worst performance in IED total trials measuring attentional set shifting ability among the groups. Conclusions Both the IGD and OCD groups shared impairment in inhibitory control functions as well as cognitive inflexibility. Neurocognitive dysfunction in IGD is linked to feature of impulsivity and compulsivity of behavioral addiction rather than impulse dyscontrol by itself

    Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea

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    ObjectivesHearing impairment (HI) is the most common sensory deficit in human. The Gap Junction Protein, Beta-2 (GJB2) gene encodes the protein connexin 26, and this gene accounts for up to half of the cases of autosomal recessive nonsyndromic HI. This study was conducted to obtain a set of sequence variations (SVs) of the GJB2 gene among Koreans from the general population for making molecular genetic diagnoses and performing genetic counseling.MethodsWe resequenced the GJB2 gene in 192 chromosomes from 96 adult individuals of Korean descent and who were without a history of hearing difficulty. The data of the SVs was obtained and the haplotypes were reconstructed from the data.ResultsFive SVs were observed, including a novel one (c.558G>A; p.T186T), with the allele frequencies ranging from 0.5% (1/192) to 41% (79/192). The linkage disequilibrium study and haplotype construction showed that some of the SVs are in tight linkage, resulting in a limited number of haplotypes.ConclusionWe observed SVs of the GJB2 gene with different allele frequencies, and a limited number of haplotypes were constructed. The data from this study can be used as reference data for GJB2-related hearing genetic studies, including studies on the founder effect and population genetics, and this data is particularly relevant to people of East Asian decent

    Smart contact lens and transparent heat patch for remote monitoring and therapy of chronic ocular surface inflammation using mobiles

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    Wearable electronic devices that can monitor physiological signals of the human body to provide biomedical information have been drawing extensive interests for sustainable personal health management. Here, we report a human pilot trial of a soft, smart contact lens and a skin-attachable therapeutic device for wireless monitoring and therapy of chronic ocular surface inflammation (OSI). As a diagnostic device, this smart contact lens enables real-time measurement of the concentration of matrix metalloproteinase-9, a biomarker for OSI, in tears using a graphene field-effect transistor. As a therapeutic device, we also fabricated a stretchable and transparent heat patch attachable on the human eyelid conformably. Both diagnostic and therapeutic devices can be incorporated using a smartphone for their wireless communications, thereby achieving instantaneous diagnosis of OSI and automated hyperthermia treatments. Furthermore, in vivo tests using live animals and human subjects confirm their good biocompatibility and reliability as a noninvasive, mobile health care solution

    Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene

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    While many disease-associated single nucleotide polymorphisms (SNPs) are associated with gene expression (expression quantitative trait loci, eQTLs), a large proportion of complex disease genome-wide association study (GWAS) variants are of unknown function. Some of these SNPs may contribute to disease by regulating gene splicing. Here, we investigate whether SNPs that are associated with alternative splicing (splice QTL or sQTL) can identify novel functions for existing GWAS variants or suggest new associated variants in chronic obstructive pulmonary disease (COPD). RNA sequencing was performed on whole blood from 376 subjects from the COPDGene Study. Using linear models, we identified 561,060 unique sQTL SNPs associated with 30,333 splice sites corresponding to 6,419 unique genes. Similarly, 708,928 unique eQTL SNPs involving 15,913 genes were detected at 10% FDR. While there is overlap between sQTLs and eQTLs, 55.3% of sQTLs are not eQTLs. Co-localization analysis revealed that 7 out of 21 loci associated with COPD (p</p
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