• KSII Transactions on Internet and Information Systems (TIIS)
• /
• 제13권7호
• /
• pp.3756-3777
• /
• 2019

Recent internet development is helping malware researchers to generate malicious code variants through automated tools. Due to this reason, the number of malicious variants is increasing day by day. Consequently, the performance improvement in malware analysis is the critical requirement to stop the rapid expansion of malware. The existing research proved that the similarities among malware variants could be used for detection and family classification. In this paper, a Cross-Platform Malware Variant Classification System (CP-MVCS) proposed that converted malware binary into a grayscale image. Further, malicious features extracted from the grayscale image through Combined SIFT-GIST Malware (CSGM) description. Later, these features used to identify the relevant family of malware variant. CP-MVCS reduced computational time and improved classification accuracy by using CSGM feature description along machine learning classification. The experiment performed on four publically available datasets of Windows OS and Android OS. The experimental results showed that the computation time and malware classification accuracy of CP-MVCS was higher than traditional methods. The evaluation also showed that CP-MVCS was not only differentiated families of malware variants but also identified both malware and benign samples in mix fashion efficiently.

• Journal of Medicine and Life Science
• /
• 제15권1호
• /
• pp.19-22
• /
• 2018

Castleman's disease is a benign lympho-proliferative disorder that commonly occurs in mediastinum. It is known that the disease rarely occurs in mesentery. Most localized abdominal Castleman's diseases are histologically hyaline vascular type. The contrast-enhanced CT in patient with hyaline vascular type Castleman's disease shows a well-defined mass with homogenously intense enhancement. On the other hand, the patient with plasma cell variant has systemic symptoms, but not specific imaging features. We report a unicentric plasma cell variant Castleman's disease in mesentery nearby superior mesenteric artery as presenting a single mass, not accompanied by systemic symptoms with similar characteristics to hyaline vascular type.

• 비교문화연구
• /
• 제38권
• /
• pp.385-404
• /
• 2015

Compiled in 776 by Zhang Shen, Wu Jing Wen Zi was regarded as the epitome of model book for standardized regular script in Tang Dynasty. Following early works like Shuo Wen Jie Zi, Zhang Shen adopted radical-rule for the compilation of this work. 3,250 characters were selected from the Five Classics and 160 radicals were established. Yu Jiaxi (1884-1955) harshly criticized the radical system of Wu Jing Wen Zi for being inconsistant and confusing. With careful review and analysis of examples from Wu Jing Wen Zi, this paper discusses the pupose of the compilation of this work, its unique radical-rule system, principles of arrangement of characters with the same or similar radicals, and the differentiation of variant characters. It further discusses the value of Wu Jing Wen Zi by its innovative radical-rule and effective differentiation of variant characters. It concludes with a rebuttal of Yu Jiaxi's argument and restate the necessity of reevaluation of this work even to this day.

• 마이크로전자및패키징학회지
• /
• 제28권4호
• /
• pp.97-101
• /
• 2021

본 연구에서는 실험 설계법을 통해 인터포저에서 Through Silicon Via (TSV) 및 Redistributed Layer (RDL)의 구조적 변형에 따른 삽입 손실 특성 변화를 확인하였다. 이때 3-요인으로 TSV depth, TSV diameter, RDL width를 선정하여, 구조적 변형을 일으켰을 때 400 MHz~20 GHz에서의 삽입 손실을 EM (Electromagnetic) tool Ansys HFSS(High Frequency Simulation Software)를 통해 확인하였다. 반응 표면법을 고려하였다. 그 결과 주파수가 높아질수록 RDL width의 영향이 감소하고 TSV depth와 TSV diameter의 영향이 증가하는 것을 확인했다. 또한 분석 범위 내에서 RDL width를 증가시키면서 TSV depth를 감소시키고 TSV diameter를 약 10.7 ㎛ 고정하는 것이 삽입 손실을 가장 최적화 시키는 결과가 관찰되었다.

• Journal of Genetic Medicine
• /
• 제19권2호
• /
• pp.115-119
• /
• 2022

The 46,XX testicular disorder of sex development (DSD) is a rare condition in which 46,XX individuals develop testicular differentiation and virilization. Translocation of the sex-determining region Y (SRY) onto the X chromosome is the main cause of 46,XX testicular DSD, whereas dysregulation between pro-testis and pro-ovarian genes can induce SRY-negative 46,XX testicular DSD. Nuclear receptor subfamily 5 group A member 1 (NR5A1), a nuclear receptor transcription factor, plays an essential role in gonadal development in XY and XX embryos. Herein, we report the first Korean case of SRY-negative 46,XX testicular DSD with a heterozygous NR5A1 p.Arg92Trp variant. The patient presented with a small penis, bifid scrotum, and bilateral undescended testes. Whole exome sequencing revealed a heterozygous missense variant (c.274C>T) of NR5A1. Our case highlights that NR5A1 gene variants need to be considered important causative factors of SRY-negative non-syndromic 46,XX testicular DSD.

• Journal of Genetic Medicine
• /
• 제20권2호
• /
• pp.31-38
• /
• 2023

Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients' families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of next-generation sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.

• Anatomy and Cell Biology
• /
• 제56권4호
• /
• pp.428-434
• /
• 2023

Pulmonary veins (PVs) and their myocardial sleeves play an important role in the development of atrial fibrillation. Hence, detailed knowledge of PV anatomy is required to improve the procedural success rate and prevent complications during cardiac procedures. The aim of this study was to evaluate the PV anatomy along with anatomical variations in the Indian population. Total 100 formalin fixed cadaveric hearts were examined. The number and pattern of the PVs were observed along with the measurement of their horizontal and vertical diameters. The ovality index for each PV was calculated. Classical PV pattern was observed in 62% cases. Variant pattern like additional right middle PV pattern and left common PV pattern were found in 20% and 10% cases respectively. A separate pattern with presence of both right middle PV and left common PV was observed in 6% cases. In the classical pattern right superior PV was the largest followed by right inferior, left superior and left inferior PV. The additional right middle PV had the smallest diameter whereas the left common PV had the largest diameter. Almost all the veins had greater vertical diameters in comparison to horizontal diameters. The variant PVs were oval and had greater ovality index compared to the normal PVs. In classical pattern 54.8% hearts whereas in variant pattern 79% hearts had one or more oval PV. The given data can help clinicians for planning and execution of various interventional and electrophysiological procedures involving PVs.

• Journal of Genetic Medicine
• /
• 제21권1호
• /
• pp.36-40
• /
• 2024

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is a maternally inherited mitochondrial disorder that usually affects the cerebral cortex and prevents high-energy demands from being met. Herein, we present the case of a male patient who rapidly developed multiple seizures, headaches, and altered mentality accompanied by severe metabolic acidosis and lactic acidosis. Initially, a brain imaging study confirmed stroke-like lesions (SLLs) only in the cerebellum. During follow-up, newly developed SLLs with lactic acidosis were observed in the basal ganglia (BG), cerebellum, and occipital lobe. The m.3243A>G variant had been found in the patient and MELAS was diagnosed, despite the BG and cerebellum being atypical locations for SLLs in MELAS. Since most cases of m.3243A>G variant MELAS show SLLs in the cerebral cortex, this case is unusual considering the location of the lesion. We emphasize that in the case of lactic acidosis accompanied by neurological symptoms, such as seizures, as in this case, MELAS should be included in the differential diagnosis, even if SLLs are observed in areas other than the cerebral cortex.

• Clinical Nutrition Research
• /
• 제12권1호
• /
• pp.40-53
• /
• 2023

Differential bitterness perception associated with genetic polymorphism in the bitter taste receptor gene taste 2 receptor member 38 (TAS2R38) may influence an individual's food preferences, nutrition consumption, and eventually chronic nutrition-related disorders including cardiovascular disease. Therefore, the effect of genetic variations on nutritional intake and clinical markers needs to be elaborated for health and disease prevention. In this study, we conducted sex-stratified analysis to examine the association between genetic variant TAS2R38 rs10246939 A > G with daily nutritional intake, blood pressure, and lipid parameters in Korean adults (males = 1,311 and females = 2,191). We used the data from the Multi Rural Communities Cohort, Korean Genome and Epidemiology Study. Findings suggested that the genetic variant TAS2R38 rs10246939 was associated with dietary intake of micronutrients including calcium (adjusted p = 0.007), phosphorous (adjusted p = 0.016), potassium (adjusted p = 0.022), vitamin C (adjusted p = 0.009), and vitamin E (adjusted p = 0.005) in females. However, this genetic variant did not influence blood glucose, lipid profile parameters, and other blood pressure markers. These may suggest that this genetic variation is associated with nutritional intake, but its clinical effect was not found. More studies are needed to explore whether TAS2R38 genotype may be a potential predictive marker for the risk of metabolic diseases via modulation of dietary intake.

• 대한임상검사과학회지
• /
• 제37권2호
• /
• pp.71-77
• /
• 2005

We experienced the specimen that contains a hemoglobin variant known as interference from HbAS in October 2003. It was the first case of Hb variants since Samsung Medical Center began conducting glycohemoglobin College of American Pathologists surveys in 1997. The purpose of this study is to share our experience with the specimen and promote the understanding of Hb variants & derivatives. We've performed cross checks to examine HbA1c by using two pieces of equipment; the TOSHOH G7 and BIO-RAD VARIANT-T(turbo), and Automatic High Performance Liquid Chromatography(HPLC) as an analytic measurement method. HPLC provides different fractional information of hemoglobin with a two-dimensional graph as well as numeric results. We have been performing a "Systematic Checking Process". Three specimen suspicious of Hb variants & derivatives were found through this process. College of American Pathologists notified that it is important for users to be aware of the limitation of their glycohemoglobin method to avoid reporting incorrect results due to interference from hemoglobin variants or hemoglobin adducts. Therefore, laboratory findings of Hb variants & derivatives are very important. The experience of qualified technicians with professional knowledge in Hb variants is the most important aspect in finding Hb variants. Korea is homogeneous in race and is not in an area with a higher finding rate of Hb variants. While 1,024 cases of Hb variants have been found in Japan, we do not have specific data on how many cases of Hb variants have been found in Korea. Considering Hb variant cases in Japan, which is geographically close to us, it is presumed that there must be various Hb variant cases in Korea. If domestic laboratories set a systemic protocol and build a network to share our experience in Hb variants, I expect the Korean Hb variants could also be listed on the world's Hb variant list.