Conscious expectancy rather than associative strength elicits brain activity during single-cue fear conditioning.

The neurocognitive processes underlying Pavlovian conditioning in humans are still largely debated. The conventional view is that conditioned responses (CRs) emerge automatically as a function of the contingencies between a conditioned stimulus (CS) and an unconditioned stimulus (US). As such, the associative strength model asserts that the frequency or amplitude of CRs reflects the strength of the CS-US associations.

Functional activation of insula and dorsal anterior cingulate for conflict control against larger monetary loss in young adults with subthreshold depression: a preliminary study.

Subthreshold depression (StD) is associated with higher risk of later developing major depressive disorder (MDD). Deficits of goal-directed behaviors regarding the motional, motivational, and conflict control are found in MDD. The current study examined neural underpinning of conflict control against monetary punishment in StD compared to MDD and healthy controls (HC).

Detection of Plasmodium vivax using Automated Hematology Analyzer in the Korean Army.

Background: This study aimed to evaluate whether our equation model developed from the Sysmex hematology analyzer can discriminate patients with Plasmodium vivax (P. vivax) infection from those with acute febrile illness (AFI) and healthy controls. Besides, we compared our model with the previously studied models.

Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.

Skeletal dysplasia (SD), a heterogeneous disease group with rare incidence and various clinical manifestations, is associated with multiple causative genes. For clinicians, accurate diagnosis of SD is clinically and genetically difficult. The development of next-generation sequencing (NGS) has substantially aided in the genetic diagnosis of SD.

A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.

Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. We report the clinical and molecular findings in a patient with Coffin-Siris syndrome. A 3-year-and-6-month-old boy presented with developmental delay, distinctive facial features, hypertrichosis, partial agenesis of the corpus callosum, fifth digit nail hypoplasia, congenital anomalies, and growth retardation.

The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.

Baraitser-Winter Cerebro-fronto-facial syndrome (BWCFF, OMIM #243310, #614583) is caused by a heterozygous gain-of-function mutation of and that encodes actin. The syndrome is characterized by striking facial features, structural brain abnormalities, ocular coloboma, hearing loss, cardiac defects, intellectual disabilities, short stature, and developmental delay. We report a two-year-old girl who had distinctive facial features, including hypertelorism, arched eyebrows, bilateral ptosis, short broad nose with a flat nasal tip, long philtrum, retrognathia, low-set ears, and a thin upper lip.

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.

Due to the genotype-phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease progression is difficult. This study aimed to report ocular and genetic data from Korean patients with PDE6B-associated RP (PDE6B-RP), and establish genotype-phenotype correlations to predict the clinical course. We retrospectively reviewed targeted next-generation sequencing or whole exome sequencing data for 305 patients with RP, and identified PDE6B-RP in 15 patients (median age, 40.

A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene (GLA). Male patients of FD develop early sign and symptoms in childhood or adolescence. However, "de novo somatic mosaicism" is rare and might be developed a relatively mild phenotype despite carrying a classic type.

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.

Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute regulatory (STAR) gene; the disease manifests with electrolyte imbalances and hyperpigmentation in neonates or young infants due to adrenocortical hormone deficiencies, and 46, XY genetic male CLAH patients can be phenotypically female. Meanwhile, some patients with STAR mutations develop hyperpigmentation and mild signs of adrenal insufficiency, such as hypoglycemia, after infancy.

A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, especially in males. Females with FXS tend to be relatively mildly affected because of compensation by a second X chromosome with a normal FMR1 gene. In most cases, FXS is caused by an expansion of the CGG repeats (>200 triplets, full mutation, FM) in the 5'-untranslated region of the FMR1 gene.

Beneficial effect of task-irrelevant threat on response inhibition.

It is widely accepted that task-irrelevant threats utilize processing resources, resulting in impaired cognitive processes. However, if some subcomponents of the cognitive processes are activated by a threat, these cognitive processes may be facilitated. In the present study, we investigated whether task-irrelevant threats enhance cognitive control if the threat and task-relevant processes commonly recruit a cognitive process, inhibitory process.

Behavior Modeling for Charge Storage in Single-Poly Floating Gate Device.

Single-poly floating gate is an efficient device for charge storage due to low power program, and implemented in a standard CMOS process. In floating gate, charges are injected and removed through the thin gate oxide. Among the gate leakage current mechanisms, FN tunneling is significant in the high electric field, while PF emission in the low electric field.

Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.

Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases.

Comparison of three multiplex PCR assays for detection of respiratory viruses: Anyplex II RV16, AdvanSure RV, and Real-Q RV.

Background: Due to its great sensitivity, the nucleic acid amplification test (NAAT) is widely used for detection of respiratory viruses (RV). However, few reports have described a direct comparison between multiplex RT-PCR assays for RV. The objective of this study was to perform a direct comparison of three multiplex RT-PCR assays for the detection of respiratory viruses.

Counteracting effect of threat on reward enhancements during working memory.

Cognitive performance has been shown to be enhanced when performance-based rewards are at stake. On the other hand, task-irrelevant threat processing has been shown to have detrimental effects during several cognitive tasks. Crucially, the impact of reward and threat on cognition has been studied largely independently of one another.

Pervasive competition between threat and reward in the brain.

In the current functional MRI study, we investigated interactions between reward and threat processing. Visual cues at the start of each trial informed participants about the chance of winning monetary reward and/or receiving a mild aversive shock. We tested two competing hypothesis: according to the 'salience hypothesis', in the condition involving both reward and threat, enhanced activation would be observed because of increased salience; according to the 'competition hypothesis', the processing of reward and threat would trade-off against each other, leading to reduced activation.

Network analysis reveals increased integration during emotional and motivational processing.

In recent years, a large number of human studies have investigated large-scale network properties of the brain, typically during the resting state. A critical gap in the knowledge base concerns the understanding of network properties of a focused set of brain regions during task conditions engaging these regions. Although emotion and motivation recruit many brain regions, it is currently unknown how they affect network-level properties of inter-region interactions.

Likelihood of attending to the color word modulates Stroop interference.

Three experiments investigated whether the Stroop color-naming effect is modulated by the likelihood of a color word capturing visual attention. In Experiment 1, a bar or a neutral word was presented at fixation as a color carrier, along with a color word randomly appearing in either an achromatic color (white in the main experiment, gray in a follow-up) or purple. Reduction of the Stroop effect (known as Stroop dilution) occurred when the color word was achromatic but not (or to a lesser extent) when it was in purple.

Impact of state anxiety on the interaction between threat monitoring and cognition.

How does threat processing impact cognitive performance? To investigate this question, in the present functional magnetic resonance imaging study, participants performed a response-conflict task (neutral, congruent, and incongruent trials) that followed a variable-length shock anticipation period or a corresponding delay during which they would not be shocked. The delay period was cued by a geometric-shaped stimulus indicating whether the subject was in the safe (no shock) or threat (potential shock) condition. Behaviorally, participants showed increased reaction time interference (incongruent-neutral) during threat trials, an effect that increased as a function of state anxiety level across participants.

Transfer of magnitude and spatial mappings to the SNARC effect for parity judgments.

Left-right keypresses to numerals are faster for pairings of small numbers to left response and large numbers to right response than for the opposite pairings. This spatial numerical association of response codes (SNARC) effect has been attributed to numbers being represented on a mental number line. We examined this issue in 3 experiments using a transfer paradigm.