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The objective of this family-based whole exome sequencing (WES) is to examine genetic variants of autism spectrum disorder (ASD) in Korean population.
The probands with ASD and their biological parents were recruited in this study. We ascertained diagnosis based on DSM-5™ criteria, using Autism Diagnostic Observation Schedule and Autism Diagnostic Interview–Revised. We selected probands with typical phenotypes of ASD both in social interaction/communication and repetitive behaviour/limited interest domains, with intellectual disability (IQ < 70), for attaining homogeneity of the phenotypes. First, we performed WES minimum 50× for 13 probands and high-coverage pooled sequencing for their parents. We performed additional WES for 38 trio families, at least 100× depth. De novo mutations were confirmed by Sanger sequencing. All the sequence reads were mapped onto the human reference genome (hg19 without Y chromosome). Bioinformatics analyses were performed by BWA-MEM, Picard, GATK, and snpEff for variant annotation. We selected de novo mutation candidates from probands, which are neither detected in two pooled samples nor both parents.
Fifty-one subjects with ASD (5 females, 40∼175 months, mean IQ 42) and their families were included in this study. We discovered 109 de novo variants from 46 families. Twenty-nine variants are expected to be amino acid changing, potentially causing deleterious effects. We assume CELSR3, MYH1, ATXN1, IDUA, NFKB1, and C4A/C4B may have adverse effect on central nerve system.
We observed novel de novo variants which are assumed to contribute to development of ASD with typical phenotypes and low intelligence in WES study.
Disclosure of interest
This work has been supported by Healthcare Technology R&D project (No: A120029) by Ministry of Health and Welfare, Republic of Korea.
Resonant soft x-ray scattering (RSoXS) leverages chemical specificity to characterize thin films but is limited near the nitrogen edge. The challenge is that commercially available x-ray transparent substrates are composed of Si3N4 and thereby absorb incident x-rays and generate incoherent fluorescence. To overcome this challenge, we designed and fabricated Al2O3 free-standing films for use as RSoXS windows. Al2O3 films offer higher x-ray transmittance and minimal fluorescence near the nitrogen edge. As an example, Al2O3 windows allow for nitrogen RSoXS of conjugated block copolymer thin films that reveal domain spacings, which are not apparent with commercially available Si3N4 substrates.
Introduction: Intubation is one of the highest-risk procedures performed in the ED. Few Canadian centres monitor intubation frequency, indications, methods used, success, and/or complication rates. An airway registry that tracks patient outcomes and variation in practice would be a valuable quality improvement (QI) tool. We describe the development of the BC-Airway Registry for Emergencies (BCARE) network, an emergency intubation database at two tertiary-care and one community hospital. Methods: Respiratory Therapists (RTs) are present at every intubation outside of the OR and complete a standardized post-intubation form. The airway forms were developed collaboratively with input from RTs, emergency physicians, intensivists, and anesthetists. Completed forms are collected from participating sites and data is entered into a secure online database where patient outcomes are analyzed in real-time. Results: We collected data from 737 unique intubations over 19 months with ongoing enrolment at the time of abstract submission. Mean age was 59.4 (Range 17-95, SD 17.6), Male 66.2%, intubation locations were ED (396, 53.7%), ICU (221, 30.0%), Ward (120, 16.3%). The most common indications for ED intubation were ICH/stroke (14.6%), seizure (10.9%), and sepsis (9.5%). Intubations are done by attending physicians more frequently in the ED (48.0%) compared to in the ICU (11.8%), and ward (8.6%). ED intubations were more commonly performed using video laryngoscopy (57.7%) with a smaller proportion using direct laryngoscopy (39.0%). First-pass success was 81.8% in the ED, 79.2% in the ICU, and 77.5% on the wards. Of ED intubations, 56 (14.1%) had complications and 73 (18.4%) were considered to be a difficult airway. Conclusion: The BCARE network tracks intubation performance across hospitals and is a valuable QI tool. BCARE can be used to ensure that all centres are meeting a benchmark success rate, for assessing the impact of practice changes such as pre-intubation checklists, and for implementing systematic methods to identify patients who previously had a “difficult airway.”
The enhanced error monitoring in patients with obsessive–compulsive disorder (OCD), typically measured with the error-related negativity (ERN), has been found to be temporally stable and independent of symptom expression. Here, we examined whether the error monitoring in patients with OCD could be experimentally modulated by individually tailored symptom provocation.
Twenty patients with OCD and 20 healthy controls performed a flanker task in which OCD-relevant or neutral pictures were presented prior to a flanker stimulus. An individualized stimulus set consisting of the most provoking images in terms of OCD symptoms was selected for each patient with OCD. Response-locked event-related potentials were recorded and used to examine the error-related brain activity.
Patients with OCD showed larger ERN amplitudes than did control subjects in both the OCD-symptom provocation and neutral conditions. Additionally, while patients with OCD exhibited a significant increase in the ERN under the OCD-symptom provocation condition when compared with the neutral condition, control subjects showed no variation in the ERN between the conditions.
Our results strengthen earlier findings of hyperactive error monitoring in OCD, as indexed by higher ERN amplitudes in patients with OCD than in controls. Importantly, we showed that the patients’ overactive error-signals were experimentally enhanced by individually tailored OCD-symptom triggers, thus suggesting convincing evidence between OCD-symptoms and ERN. Such findings imply that therapeutic interventions should target affective regulation in order to alleviate the perceived threatening value of OCD triggers.
To determine the length and position of a thyroidectomy scar that is cosmetically most appealing to naïve raters.
Images of thyroidectomy scars were reproduced on male and female necks using digital imaging software. Surgical variables studied were scar position and length. Fifteen raters were presented with 56 scar pairings and asked to identify which was preferred cosmetically. Twenty duplicate pairings were included to assess rater reliability. Analysis of variance was used to determine preference.
Raters preferred low, short scars, followed by high, short scars, with long scars in either position being less desirable (p < 0.05). Twelve of 15 raters had acceptable intra-rater and inter-rater reliability.
Naïve raters preferred low, short scars over the alternatives. High, short scars were the next most favourably rated. If other factors influencing incision choice are considered equal, surgeons should consider these preferences in scar position and length when planning their thyroidectomy approach.
We present recent observation results of Sgr A* at millimeter obtained with VLBI arrays in Korea and Japan.
7 mm monitoring of Sgr A* is part of our AGN large project. The results at 7 epochs during 2013-2014, including high resolution maps, flux density and two-dimensional size measurements are presented. The source shows no significant variation in flux and structure related to the G2 encounter in 2014. According to recent MHD simulations by kawashima et al., flux and magnetic field energy can be expected to increase several years after the encounter; We will keep our monitoring in order to test this prediction.
Astrometric observations of Sgr A* were performed in 2015 at 7 and 3.5 millimeter simultaneously. Source-frequency phase referencing was applied and a combined ”core-shift” of Sgr A* and a nearby calibrator was measured. Future observations and analysis are necessary to determine the core-shift in each source.
Several studies link development to institutions transplanted by European colonizers and here we extend this line of research to Asia. Japan imposed its system of well-defined property rights on some of its Asian colonies. In 1939, Japan began to register private land in its island colonies, an effort that was completed in Palau but interrupted elsewhere by World War II. Within Micronesia, robust economic development followed only in Palau where individual property rights were well defined. We show that well-defined property rights in Korea and Taiwan secured land taxation and enabled farmers to obtain bank loans for irrigation systems. Considering Japanese colonies, we use the presence or absence of a land survey as an instrument to identify the causal impact of new institutions. Our estimates show that property-defining institutions were important for economic development, results that are confirmed when using a similar approach with British Colonies in Asia.
We present a rare case of a young patient with chest pain whose ascending thoracic aortic aneurysm (TAA) was detected by point-of-care ultrasound (POCUS) leading to a successful surgical repair. POCUS identified a moderate pericardial effusion and an associated severely dilated ascending aorta. In this context, it is important to rule out aortic rupture and aortic dissection. We also discuss the epidemiology, complications, and management of TAAs as well as the role of cardiac POCUS in the diagnosis of thoracic aneurysmal disease.
Previous studies have implicated the relationship between environmental phthalate exposure and attention deficit hyperactivity disorder (ADHD) symptoms of childhood, but no studies have been conducted in children who have a confirmed diagnosis of ADHD obtained through meticulous diagnostic testing. We aimed to determine whether phthalate metabolites in urine would be higher in children with ADHD than in those without ADHD and would correlate with symptom severity and cortical thickness in ADHD children.
A cross-sectional examination of urine phthalate metabolite concentrations was performed; scores for ADHD symptoms, externalizing problems, and continuous performance tests were obtained from 180 children with ADHD, and brain-imaging data were obtained from 115 participants. For the control group, children without ADHD (N = 438) were recruited. Correlations between phthalate metabolite concentrations and clinical measures and brain cortical thickness were investigated.
Concentrations of phthalate metabolites, particularly the di(2-ethylhexyl) phthalate (DEHP) metabolite, were significantly higher in boys with ADHD than in boys without ADHD. Concentrations of the di-n-butyl phthalate (DBP) metabolite were significantly higher in the combined or hyperactive-impulsive subtypes compared to the inattentive subtype, and the metabolite was positively correlated with the severity of externalizing symptoms. Concentrations of the DEHP metabolite were negatively correlated with cortical thickness in the right middle and superior temporal gyri.
The results of this study suggest an association between phthalate concentrations and both the diagnosis and symptom severity of ADHD. Imaging findings suggest a negative impact of phthalates on regional cortical maturation in children with ADHD.
Although immediate notification of a case is crucial for epidemic control, clinicians may delay notification due to uncertainties in diagnosis, reflecting a trade-off between timeliness and the accuracy of surveillance. We assessed this trade-off for four epidemic-prone diseases that require immediate notification of suspected cases: shigellosis, typhoid fever, paratyphoid fever, and cholera in the Korean National Notifiable Disease Surveillance System data for 2001–2007. Timeliness was measured as the time to registration (TR), being the time interval from symptom onset to notification by the clinician to the local public health centre. We introduced a new index, ‘time-accuracy trade-off ratio’ to indicate time saved by clinical vs. laboratory-based notifications. Clinical notifications comprised 34·4% of total notifications, and these showed a shorter median TR than laboratory-based notifications (1–4 days). The trade-off ratio was greatest for shigellosis (3·3 days), and smallest for typhoid fever (0·6 days). A higher trade-off ratio provides stronger evidence for clinical notification without waiting for laboratory confirmation.
We examined the cross-sectional relationship between environmental tobacco smoke exposure, continuous performance test (CPT) measures, and attention deficit hyperactivity disorder (ADHD) or learning disability symptoms in school-aged children.
In total, 989 children (526 boys, mean age 9.1 ± 0.7 years), recruited from five South Korean cities participated in this study. We used urine cotinine as a biomarker for environmental tobacco smoke exposure, and obtained the children's scores on a CPT. Parents completed the Korean versions of the ADHD Rating Scale – IV (ADHD-RS) and Learning Disability Evaluation Scale (LDES). Using generalized linear mixed model (GLMM), we assessed the associations between urine cotinine concentrations, neuropsychological variables, and symptoms of ADHD and learning disabilities. Additionally, we conducted structural equation models to explore the effects' pathways.
After adjusting for a range of relevant covariates, GLMM showed urinary cotinine levels were significantly and positively associated with CPT scores on omission errors, commission errors, response time, and response time variability, and with parent- and teacher-rated ADHD-RS scores. In addition, urine cotinine levels were negatively associated with LDES scores on spelling and mathematical calculations. The structural equation model revealed that CPT variables mediated the association between urine cotinine levels and parental reports of symptoms of ADHD and learning disabilities.
Our data indicate that environmental exposure to tobacco smoke is associated with ADHD and learning disabilities in children, and that impairments in attention and inhibitory control probably mediate the effect.
A chemical explosive mode analysis (CEMA) was developed as a new diagnostic to identify flame and ignition structure in complex flows. CEMA was then used to analyse the near-field structure of the stabilization region of a turbulent lifted hydrogen–air slot jet flame in a heated air coflow computed with three-dimensional direct numerical simulation. The simulation was performed with a detailed hydrogen–air mechanism and mixture-averaged transport properties at a jet Reynolds number of 11000 with over 900 million grid points. Explosive chemical modes and their characteristic time scales, as well as the species involved, were identified from the Jacobian matrix of the chemical source terms for species and temperature. An explosion index was defined for explosive modes, indicating the contribution of species and temperature in the explosion process. Radical and thermal runaway can consequently be distinguished. CEMA of the lifted flame shows the existence of two premixed flame fronts, which are difficult to detect with conventional methods. The upstream fork preceding the two flame fronts thereby identifies the stabilization point. A Damköhler number was defined based on the time scale of the chemical explosive mode and the local instantaneous scalar dissipation rate to highlight the role of auto-ignition in affecting the stabilization points in the lifted jet flame.
Understanding the high-pressure kinetics associated with the formation of methane hydrates is critical to the practical use of the most abundant energy resource on earth. In this study, we have studied, for the first time, the compression rate dependence on the formation of methane hydrates under pressures, using dynamic-Diamond Anvil Cell (d-DAC) coupled with a high-speed microphotography and a confocal micro-Raman spectroscopy. The time-resolved optical images and Raman spectra indicate that the pressure-induced formation of methane hydrate depends on the compression rate and the peak pressure. At the compression rate of around 5 to 10 GPa/s, methane hydrate phase II (MH-II) forms from super-compressed water within the stability field of ice VI between 0.9 GPa and 2.0 GPa. This is due to a relatively slow rate of the hydrate formation below 0.9 GPa and a relatively fast rate of the water solidification above 2.0 GPa. The fact that methane hydrate forms from super-compressed water underscores a diffusion-controlled growth, which accelerates with pressure because of the enhanced miscibility between methane and super-compressed water.
Direct numerical simulation (DNS) of the near field of a three-dimensional spatially developing turbulent lifted hydrogen jet flame in heated coflow is performed with a detailed mechanism to determine the stabilization mechanism and the flame structure. The DNS was performed at a jet Reynolds number of 11,000 with over 940 million grid points. The results show that auto-ignition in a fuel-lean mixture at the flame base is the main source of stabilization of the lifted jet flame. A chemical flux analysis shows the occurrence of near-isothermal chemical chain branching preceding thermal runaway upstream of the stabilization point, indicative of hydrogen auto-ignition in the second limit. The Damköhler number and key intermediate-species behaviour near the leading edge of the lifted flame also verify that auto-ignition occurs at the flame base. At the lifted-flame base, it is found that heat release occurs predominantly through ignition in which the gradients of reactants are opposed. Downstream of the flame base, both rich-premixed and non-premixed flames develop and coexist with auto-ignition. In addition to auto-ignition, Lagrangian tracking of the flame base reveals the passage of large-scale flow structures and their correlation with the fluctuations of the flame base. In particular, the relative position of the flame base and the coherent flow structure induces a cyclic motion of the flame base in the transverse and axial directions about a mean lift-off height. This is confirmed by Lagrangian tracking of key scalars, heat release rate and velocity at the stabilization point.