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Pathogenic variants of DNMT3A have been implicated in Tatton-Brown-Rahman syndrome, an overgrowth disorder with macrocephaly and intellectual disability. However, there are recent reports of variants in the same gene giving rise to an opposing clinical phenotype presenting with microcephaly, growth failure, and impaired development—named Heyn-Sproul-Jackson syndrome (HESJAS). Here, we present a case of HESJAS caused by a novel pathogenic variant of DNMT3A. A five-year-old girl presented with severe developmental delay. Perinatal and family history were non-contributory. Physical exam showed microcephaly and facial dysmorphic features, and neurodevelopmental assessments revealed profound global developmental delay. Brain magnetic resonance imaging findings were normal; however, brain 3D computed tomography revealed craniosynostosis. Next generation sequencing revealed a novel heterozygous variant in DNMT3A (NM_175629.2: c.1012_1014 + 3del). The patient's parents did not carry the variant. In this report, a novel feature associated with HESJAS (craniosynostosis) is described, along with a more detailed account of clinical manifestations than those in the original report.

Bioresorbable implantable medical devices can be employed in versatile clinical scenarios that burden patients with complications and surgical removal of conventional devices. However, a shortage of suitable electricalinterconnection materials limits the development of bioresorbable electronic systems. Therefore, this study highlights a highly conductive, naturally resorbable paste exhibiting enhanced electrical conductivity and mechanical stability that can solve the existing problems of bioresorbable interconnections. Multifaceted experiments on electrical and physical properties were used to optimize the composition of pastes containing beeswax, submicron tungstenparticles, and glycofurol. These pastes embody isotropic conductive paths for three-dimensional interconnects and function as antennas, sensors, and contact pads for bioresorbable electronic devices. The degradation behavior in aqueous solutions was used to assess its stability and ability to retain electrical conductance (∼7 ​kS/m) and structural form over the requisite dissolution period. In vitro and in vivo biocompatibility tests clarified the safety of the paste as an implantable material.

Abstract Filamin A (FLNa) belongs to an actin-binding protein family in binding and cross-linking actin filaments into a three-dimensional structure. However, little attention has been given to its mechanobiological role in cancer cells. Here, we quantitatively investigated the role of FLNa by analyzing the following parameters in negative control (NC) and FLNa-knockdown (KD) U87 glioma cells using submicron pillars (900 nm diameter and 2 μm height): traction force (TF), rigidity sensing ability, cell aspect ratio, migration speed, and invasiveness. During the initial phase of cell adhesion (

This paper presents a practical approach to automatic inspection of display panels based on deep neural networks. The approach accurately detects appearance defects on display panels in various sizes and shapes within a short computation time. We propose a novel reliable detection network using the multi-channel parameter reduction method, which preserves high-resolution features of defects at sub-sampling steps of convolutional operations. Our proposed network consists of two sub-networks with different functions: pixel-wise segmentation of defect regions and distinction of real defects from fake defects. Compared with conventional deep learning networks, the proposed network achieved a more accurate detection rate, i.e. an F1-score of 81%, for real defect images acquired from an actual display manufacturing process. In addition, we propose a conditionally paired generative network that generates synthetic images of scarce defects under four different lighting conditions. The proposed networks improved the detection accuracy and can be applied to automatic inspection processes in display manufacturing factories in place of human inspection.

Tatton–Brown–Rahman syndrome (TBRS) and Say–Barber–Biesecker– Young–Simpson variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 reported cases. Patients with these disorders exhibit a characteristic facial dysmorphism: TBRS is characterized by a round face, a straight and thick eyebrow, and prominent maxillary incisors, whereas SBBYSS is characterized by mask-like facies, blepharophimosis, and ptosis. The usefulness of Face2Gene as a tool for the identification of dysmorphology syndromes is discussed, because, in these patients, it suggested TBRS and SBBYSS within the top five candidate disorders. Face2Gene is useful for the diagnosis of extremely rare diseases in Korean patients, suggesting the possibility of expanding its clinical applications.

Objectives The purpose of this study was to investigate the association between the Basic Old-Age Pension (BOP), which is a noncontributory pension, and depression in BOP beneficiaries in Korea. Methods We used the second and third waves (2007-2008) of the Korea Welfare Panel Study to identify the effect of the BOP on mental health in the year of its introduction. The Center for Epidemiological Studies-Depression Scale, applied in a Korean context, was used to evaluate mental health. To analyze the effect of the BOP, a difference-in-difference approach was used in analyses of all subjects and subgroups. Results For this study population of 760 adults, the BOP did not have a statistically significant relationship with depression in its beneficiaries. After controlling for type of household, the BOP was still not associated with lower reporting of depression, either in single-beneficiary or double-beneficiary households, in the year of the benefit. Conclusions The BOP policy had no significant relationship with the level of depression among recipients. However, this should not be interpreted as implying that income subsidy programs for older adults, such as the BOP, do not affect mental health, considering the importance of economic hardship in this population and the program’s socioeconomic effects.

Background The purpose of this study was to investigate the characteristics and direction of treatment for peripheral facial palsy (PFP) based on medical collaboration between Western and Korean medicine departments. Methods There were 195 outpatients with PFP identified retrospectively by examining electronic medical records. These patients were treated with Korean and Western medicine from January 1st, 2018 to December 31st, 2018 at the Kyung Hee University hospital. Records were analyzed according to the patients’ demographic characteristics and clinical features of the collaborative combined treatment. Results According to the collaborative treatment pathway, the number of patients consulted from Western medicine departments was more than consulted from Korean department for the first time. The time taken by the Western medicine departments to consult with the patients at the Korean center for the first time was 14.9 days from the onset of symptoms. Acupuncture was the most frequently used Korean medicine treatment. The total treatment period for Korean medicine sessions and intervals were 91.9 days, 23 times and 3.6 days, respectively. When the Korean medicine center consulted with Western medicine departments, the time taken until the first consultation was 8.5 days from the onset of symptoms. Medication was the most used treatment, prescribed after 3.1 days. The most frequently used clinical test was an electromyogram, and this was performed after 20.5 days. The total treatment period, sessions and intervals were 21.2 days, 2.8 times and 5 days, respectively. Conclusion The clinical status of collaborative treatment for PFP was determined including the timing and interval of consultation according to treatments.

Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay and regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, and respiratory problems. The syndrome characteristically presents symmetric necrotizing lesions in the basal ganglia, brainstem, cerebellum, thalamus, and spinal cord on cranial magnetic resonance imaging. To date, more than 85 genes are known to be associated with Leigh syndrome. Here, we present a rare case of a child who developed Leigh syndrome due to pathogenic variants of NDUFAF6, which encodes an assembly factor of complex I, a respiratory chain subunit. A targeted next-generation sequencing analysis related to mitochondrial disease revealed a missense variant (NM_152416.4:c.371T > C; p.Ile124Thr) and a frameshift variant (NM_152416.4:c.233_242del; p.Leu78GInfs*10) inherited biparentally. The proband underwent physical therapy and nutrient cocktail therapy, but his physical impairment gradually worsened.

Liquid hydrogen has been studied for use in vehicles. However, during the charging process, liquid hydrogen is lost as gas. Therefore, it is necessary to estimate and reduce this loss and simulate the charging process. In this study, the initial charging process of a vehicle liquid hydrogen tank under room temperature and atmospheric pressure conditions was numerically investigated. A transient thermal-fluid simulation with a phase-change model was performed to analyze variations in the volume, pressure, mass flow rate, and temperature. The results showed that the process could be divided into three stages. In the first stage, liquid hydrogen was actively vaporized at the inner wall surface of the storage tank. The pressure increased rapidly, and liquid droplets were discharged into the vent pipe during the second stage. In the third stage, the mass flow rates of liquid and hydrogen gas at the outlet showed significant fluctuations, owing to complex momentum generated by the evaporation and charging flow. The temperatures of the inner and outer walls, and insulation layer, decreased significantly slower than that of the gas region because of its high heat capacity and insulation effect. The optimal structure should be further studied because the vortex, stagnation, and non-uniform cooling of the wall occurred near the inlet and outlet pipes.

Introduction: Congenital muscular torticollis (CMT) is the most common cause of torticollis in infants; other causes, including osseous, ocular, and central nervous system torticollis can easily be overlooked. We report two rare cases of CMT with concurrent osseous or ocular torticollis.Case 1: A 1-month-old female infant with a right neck mass and right-tilting head posture was referred. Neck ultrasonography showed diffuse hypertrophy and hyperechoic findings on the right sternocleidomastoid (SCM) muscle, which was consistent with right CMT. A clavicle X-ray imaging was conducted to identify an associated fracture due to birth trauma on the same day and a suspected congenital vertebral anomaly was coincidentally found. Subsequent three-dimensional computed tomography of the cervical spine showed a T1 hemivertebra causing the right-tilting head. The patient was diagnosed with the concurrent manifestation of CMT and congenital osseous torticollis.Case 2: A 3-month-old male infant with a 20° head tilt to the right with a limited cervical range of motion was referred. Neck ultrasonography showed a fibromatosis colli in the right SCM, suggesting CMT. He proceeded to physical therapy for seven months; however, there was little clinical improvement in his head and neck posture. The patient underwent an additional ophthalmologic examination and orbital magnetic resonance imaging (MRI) at 10 months of age. The result showed congenital agenesis of the left fourth cranial nerve with hypoplasia of the superior oblique muscle causing the right-tilting of the head. Ultimately, the boy was diagnosed with a concurrent manifestation of CMT and congenital ocular torticollis.Conclusion: Unless careful examinations are conducted, congenital vertebral anomalies and congenital agenesis of the fourth cranial nerve can go unnoticed in the present two cases. If a patient with CMT displays unusual features or does not respond to physical therapy, clinicians should consider not only a differential diagnosis but also concurrence with other causes of congenital torticollis.

Mitotic spindle orientation is postulated to be regulated by two mechanisms: (1) Hertwig’s rule in which cells divide perpendicular to their major axis and (2) cortical cues arising from the spatial distribution of extracellular matrix. It was shown that cortical cues override cell geometry in dictating mitotic spindle orientation for cells cultured on 2D surfaces. In this study, we seek to investigate the interplay between cell geometry and cortical cues in determining mitotic spindle orientation for cells cultured on 3D microgratings. Here, cell geometry is manipulated by culturing RPE-1 and HeLa cells on different micrograting widths while cortical cues are modified by ablating focal adhesion contacts using cytochalasin D. We find a significant correlation between cell aspect ratio and spindle angles. Unexpectedly, disruption of cortical cues through focal adhesion inhibition did not lead to spindle misorientation in both RPE-1 and HeLa. Instead, spindle orientation was perturbed by disruption of microtubules (MTs) to a greater degree than abolishment of cortical focal adhesion cues. These results indicate that cell geometry is more important than cortical cues in maintaining proper spindle orientation and that MTs play an important role in spindle orientation for cells grown on 3D microgratings. To incorporate our findings of cell geometry and MTs as important players in spindle orientation, we developed a computational force balance model that relates both cell elongation, astral MTs to spindle angles and found good agreement between the model and experimental data.

Objective: The analysis of runs of homozygosity (ROH) has been applied to assess the level of inbreeding and identify selection signatures in various livestock species. The objectives of this study were to characterize the ROH pattern, estimate the rate of inbreeding, and identify signatures of selection in the red-brown Korean native chickens. Methods: The Illumina 60K single nucleotide polymorphism chip data of 651 chickens was used in the analysis. Runs of homozygosity were analysed using the PLINK v1.9 software. Inbreeding coefficients were estimated using the GCTA software and their correlations were examined. Genomic regions with high levels of ROH were explored to identify selection signatures. Results: A total of 32,176 ROH segments were detected in this study. The majority of the ROH segments were shorter than 4 Mb. The average ROH inbreeding coefficients (FROH) varied with the length of ROH segments. The means of inbreeding coefficients calculated from different methods were also variable. The correlations between different inbreeding coefficients were positive and highly variable (r = 0.18-1). Five ROH islands harbouring important quantitative trait loci were identified. Conclusion: This study assessed the level of inbreeding and patterns of homozygosity in Red-brown native Korean chickens. The results of this study suggest that the level of recent inbreeding is low which indicates substantial progress in the conservation of red-brown Korean native chickens. Additionally, Candidate genomic regions associated with important production traits were detected in homozygous regions. [ABSTRACT FROM AUTHOR]

Currently, the competition among carriers in the international freight service industry is getting fierce. In particular, the LCC (Low Cost Carriers) in Korea secured the licenses for international freight delivery service. However, due to the high costs, most shippers prefer car ferry services over air transportation, even though the service level of air transportation is considerably better. The present paper investigates how the LCCs, as compared to car ferry services, secure the competitive advantage in the international transportation service as compared to car ferry services. We have focused on the factors shippers regard as the most important for selecting transportation mode. For a reasonable comparison, we have limited the business area to the north eastern Asian countries, including Korea, China, Japan, and Russia. We have developed a questionnaire for the shippers who export their own product in these countries from Korea. Based on the results of fuzzy-AHP, it can be concluded that the factors related to the reliability and convenience are regarded as the important factors for selecting the transportation mode. Furthermore, the results of this study can be used by LCCs to develop their own strategies for competing with car ferry services. Keywords: Transportation Mode, International Cargo, LCC, Car Ferry, Fuzzy-AHP

Frontometaphyseal dysplasia 1 (FMD1) is a rare otopalatodigital spectrum disorder (OPDSD) that is inherited as an X-linked trait and it is caused by gain-of-function mutations in the FLNA. It is characterized by generalized skeletal dysplasia, and craniofacial abnormalities including facial dysmorphism (supraorbital hyperostosis, hypertelorism, and down-slanting palpebral fissures). The involvement of the central nervous system in patients with OPDSD is rare. Herein, we present the case of a 12-year-old boy with facial dysmorphism, multiple joint contractures, sensorineural hearing loss, scoliosis, craniosynostosis, and irregular sclerosis with hyperostosis of the skull. Brain and whole-spine magnetic resonance imaging revealed Chiari I malformation with extensive hydrosyringomyelia from the C1 to T12 levels. Targeted next-generation sequencing identified a hemizygous pathologic variant (c.3557C>T/p.Ser1186Leu) in the FLNA, confirming the diagnosis of FMD1. This is the first report of a rare case of OPDSD with pansynostosis and Chiari I malformation accompanied by extensive syringomyelia.

Objectives: To develop a model to predict biochemical recurrence (BCR) after radical prostatectomy (RP), using artificial intelligence (AI) techniques. Patients and Methods: This study collected data from 7,128 patients with prostate cancer (PCa) who received RP at 3 tertiary hospitals. After preprocessing, we used the data of 6,755 cases to generate the BCR prediction model. There were 16 input variables with BCR as the outcome variable. We used a random forest to develop the model. Several sampling techniques were used to address class imbalances. Results: We achieved good performance using a random forest with synthetic minority oversampling technique (SMOTE) using Tomek links, edited nearest neighbors (ENN), and random oversampling: accuracy = 96.59%, recall = 95.49%, precision = 97.66%, F1 score = 96.59%, and ROC AUC = 98.83%. Conclusion: We developed a BCR prediction model for RP. The Dr. Answer AI project, which was developed based on our BCR prediction model, helps physicians and patients to make treatment decisions in the clinical follow-up process as a clinical decision support system.

This paper focuses on the development of a model-based train performance simulation with the practical train operation data using MATLAB Simulink. The developed program uses input operation data of a DC 1500 V metro line. And the simultaneous and multi-rate simulation for DC metro was performed to interface train schedule data with actual railway electrification system and vehicle. In the simulation, the voltage and power measured at each substation are provided during the traction, coasting and breaking mode. From this study, railroad vehicle load can be virtually modeled in the system internally and contribute to verifying new parts of the overall railway electrification systems.

Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy. He presented with proximal muscle weakness and elevated creatine phosphokinase levels. A multiplex ligation-dependent probe amplification study of DMD revealed the de novo duplications of exons 2–37, thereby confirming the diagnosis of DMD. Initial evaluation revealed atypical features, such as facial dysmorphism, multiple joint contractures, and severe scoliosis, at an early age. However, these were overlooked and were assumed to be atypical manifestations of DMD. Then, the patient's maternal cousin was diagnosed with FMD1 with pathogenic missense variant in FLNA (NM_001110556.2: c.3557C>T/p.Ser1186Leu). A family genetic test revealed that the patient and his mother had the same pathogenic variant in FLNA. The patient's atypical manifestations were considered symptoms of FMD1. Therefore, if one disease does not fully explain the patient's clinical features, an expanded genetic study is needed to detect coincidental disease.

Patient-derived xenograft (PDX) mouse models are frequently used to test the drug efficacy in diverse types of cancer. They are known to recapitulate the patient characteristics faithfully, but a systematic survey with a large number of cases is yet missing in lung cancer. Here we report the comparison of genomic characters between mouse and patient tumor tissues in lung cancer based on exome sequencing data. We established PDX mouse models for 132 lung cancer patients and performed whole exome sequencing for trio samples of tumor-normal-xenograft tissues. Then we computed the somatic mutations and copy number variations, which were used to compare the PDX and patient tumor tissues. Genomic and histological conclusions for validity of PDX models agreed in most cases, but we observed eight (~7%) discordant cases. We further examined the changes in mutations and copy number alterations in PDX model production and passage processes, which highlighted the clonal evolution in PDX mouse models. Our study shows that the genomic characterization plays complementary roles to the histological examination in cancer studies utilizing PDX mouse models.

In this study, we identified the noise generated from automotive wheel bearings, which has recently emerged as a new problem in electric vehicles. The wheel bearing assembly considered in this study consists of a wheel bearing, dust shield, and knuckle, which are fastened with bolts. To obtain the noise characteristics of the wheel bearing, the noise and vibration were experimentally measured when the bearing rotated. Additionally, the natural frequencies and mode shapes of the main components of the bearing were acquired via modal testing. By comparing the obtained natural frequencies with the peak frequencies of the measured noise and vibration signals, we identified where the noise radiated. To specifically identify bearing defects, a finite element analysis model was established, and the deformation of the bearing under load was analyzed. Based on the analysis, we determined that the deformation of the outer ring in an outboard row, which resulted from bolt fastening, leads to noise and vibration in the wheel bearing.

Abstract Three-dimensional colored gravity refers to nonabelian isospin extension of Einstein gravity. We investigate the asymptotic symmetry algebra of the SU(N)-colored gravity in (2+1)-dimensional anti-de Sitter spacetime. Formulated by the Chern-Simons theory with SU(N, N) × SU(N, N) gauge group, the theory contains graviton, SU(N) Chern-Simons gauge fields and massless spin-two multiplets in the SU(N) adjoint representation, thus extending diffeomorphism to colored, nonabelian counterpart. We identify the asymptotic symmetry as Poisson algebra of generators associated with the residual global symmetries of the nonabelian diffeomorphism set by appropriately chosen boundary conditions. The resulting asymptotic symmetry algebra is a nonlinear extension of s u N ^ $$ \widehat{\mathfrak{su}(N)} $$ Kac-Moody algebra, supplemented by additional generators corresponding to the massless spin-two adjoint matter fields.