• Genomics & Informatics
• /
• v.19 no.4
• /
• pp.38.1-38.7
• /
• 2021

Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18 to 4.41; p = 0.0027-0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89 to 37.3; p = 0.0058- 0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.

• Anatomy and Cell Biology
• /
• v.57 no.1
• /
• pp.31-44
• /
• 2024

The exocrine part of the pancreas has a duct system called the pancreatic ductal system (PDS). Its mechanism of development is complex, and any reorganization during early embryogenesis can give rise to anatomical variants. The aim of this study is to collect, classify, and analyze published evidence on the importance of anatomical variants of the PDS, addressing gaps in our understanding of such variations. The MEDLINE, Web of Science, Embase, and Google Scholar databases were searched to identify publications relevant to this review. R studio with meta-package was used for data extraction, risk of bias estimation, and statistical analysis. A total of 64 studies out of 1,778 proved suitable for this review and metanalysis. The meta-analysis computed the prevalence of normal variants of the PDS (92% of 10,514 subjects). Type 3 variants and "descending" subtypes of the main pancreatic duct (MPD) predominated in the pooled samples. The mean lengths of the MPD and accessory pancreatic duct (APD) were 16.53 cm and 3.36 cm, respectively. The mean diameters of the MPD at the head and the APD were 3.43 mm and 1.69 mm, respectively. The APD was present in only 41% of samples, and the long type predominated. The pancreatic ductal anatomy is highly variable, and the incorrect identification of variants may be challenging for surgeons during ductal anastomosis with gut, failure to which may often cause ductal obstruction or pseudocysts formation.

• Journal of Korea Society of Digital Industry and Information Management
• /
• v.13 no.1
• /
• pp.103-111
• /
• 2017

Recently, new variants of Ransomware are becoming a new security issue. Ransomware continues to evolve to avoid network of security solutions and extort users' information to demand Bitcoin using social engineering technique. Ransomware is damaging to users not only in Korea but also in all around the world. In this thesis, it will present research solution to prevent and cope from damage by new variants Ransomware, by studying on the types and damage cases of Ransomware that cause social problems. Ransomware which introduced in this paper, is the most issued malicious code in 2016, so it will evolve to a new and more powerful Ransomware which security officers cannot predict to gain profit. In this thesis, it proposes 4 methods to prevent the damage from the new variants of Ransomware to minimize the damage and infection from Ransomware. Most importantly, if user infected from Ransomware, it is very hard to recover. Thus, it is important that users understand the basic security rules and effort to prevent them from infection.

• Journal of Korean Society for Quality Management
• /
• v.33 no.4
• /
• pp.96-102
• /
• 2005

Cusum control chart is an efficient method to detect the change of process status. Many variants of cusum have considered, and the effects of design parameters have reviewed. To find the best cusum out of variants and to decide the best values of the design parameters, we need a criterion measuring the performance of the cusum control chart. People used and suggested several criterions which appear to be similar, but those have quite different properties. In this paper we review the properties of performance measure of cusum and its variants. Our goal is to provide fair and impartial criterion for comparison of cusums when the decision boundaries of the cusums are much different each other. We comparatively tested newly suggested measure and traditional measure with the examples of cumulative scored chart as a special case of cusum chart.

• Genomics & Informatics
• /
• v.10 no.4
• /
• pp.214-219
• /
• 2012

The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception－it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology.

• Mass Spectrometry Letters
• /
• v.10 no.4
• /
• pp.117-122
• /
• 2019

This study demonstrated the sensitivity of electron capture dissociation mass spectrometry (ECD-MS) to probe subtle conformational changes in gaseous melittin ions induced by the substitution of an amino acid. ECD-MS was performed for triply and quadruply-protonated melittin and its variants obtained by a single amino acid substitution, namely, D-Pro14, Pro14Ala, and Leu13Ala. Although native triply-protonted melittin showed only a few peptide backbone cleavage products, the D-Pro14 and Pro14Ala variants exhibited extensive backbone fragments, suggesting the occurrence of a significant structural or conformational change induced by a single amino acid substitution at Pro14. On the contrary, the substitution at Leu13, namely Leu13Ala (+3), did not cause significant changes in the ECD backbone fragmentation pattern. Thus, the sensitivity of ECD-MS is demonstrated to be good enough to probe the aforementioned conformational change in melittin.

• Genomics & Informatics
• /
• v.9 no.2
• /
• pp.45-51
• /
• 2011

How personality forms and whether personality genes exist are long-studied questions. Various concepts and theories have been presented for centuries. Personality is a complex trait and is developed through the interaction of genes and the environment. Twin and family studies have found that there are critical genetic and environmental components in the inheritance of personality traits, and modern advances in genetics are making it possible to identify specific variants for personality traits. Although genes that were found in studies on personality have not provided replicable association between genetic and personality variability, more and more genetic variants associated with personality traits are being discovered. Here, we present the current state of the art on genetic research in the personality field and finally list several of the recently published research highlights. First, we briefly describe the commonly used self-reported measures that define personality traits. Then, we summarize the characteristics of the candidate genes for personality traits and investigate gene variants that have been suggested to be associated with personality traits.

• Genomics & Informatics
• /
• v.7 no.1
• /
• pp.1-12
• /
• 2009

An alternative way of constructing ancestral graphs, which is different from the coalescent-based approach, is proposed using population linkage disequilibrium (LD) data. The main difference from the existing method is the construction of the ancestral graphs based on variants instead of individual sequences. Therefore, the key of the proposed method is to use the order of allele ages in the graphs. Distinct from the previous age-estimation methods, allele ages are estimated from full haplotype information by examining the number of generations from the initial complete LD to the current decayed state for each two variants depending on the direction of LD decay between variants. Using a simple algorithmic procedure, an ancestral graph can be derived from the expected allele ages and current LD decay status. This method is different in many ways from previous methods, and, with further improvement, it might be a good replacement for the current approaches.

• Proceedings of the KSR Conference
• /
• 2000.05a
• /
• pp.250-257
• /
• 2000

A Helmholtz free energy for a martensitic transformation of a single crystalline shape-memory alloy is obtained by a micromechanical approach, 24 variants of the single crystal are taken into account. In the framework of irreversible thermodynamics, a kinetic relation, a martensitic nucleation criterion and the reorientation criterion of martensitic variants are obtained. These relations are valid for a three-dimensional proportional or non-proportional mechanical loading or a combination of mechanical and thermal loading. Reorientation behavior of a single crystalline shape-memory alloy CuZnAl is simulated. When a tensile load is applied to a thermally-induced martensite, 24 self-accommodated martensitic variants are reoriented to the most favorable variant. In the following unloading, the most favorable variant in the tensile load is reoriented to the most favorable variant in this loading condition.

• Journal of Microbiology and Biotechnology
• /
• v.31 no.12
• /
• pp.1601-1614
• /
• 2021

To overcome the ongoing COVID-19 pandemic, vaccination campaigns are the highest priority of majority of countries. Limited supply and worldwide disproportionate availability issues for the approved vaccines, together with concerns about rare side-effects have recently initiated the switch to heterologous vaccination, commonly known as mixing of vaccines. The COVID-19 vaccines are highly effective in the general population. However, none of the vaccines is 100% efficacious or effective, with variants posing more challenges, resulting in breakthrough cases. This review summarizes the current knowledge of immune responses to variants of concern (VOC) and breakthrough infections. Furthermore, we discuss the scope of heterologous vaccination and future strategies to tackle the COVID-19 pandemic, including fractionation of vaccine doses and alternative route of vaccination.