• Journal of Interdisciplinary Genomics
• /
• v.1 no.1
• /
• pp.10-13
• /
• 2019

A 10-year and 5 month-old girl with developmental delay, intellectual disability, attention deficit hyperactivity disorder, poor weight gain, and microcephaly was transferred to our pediatric clinic for genetic evaluation. Her height was within the 5-10th percentile, and her weight was under the 3rd percentile. On the social maturity scale, her developmental status was scored as 3 years 9 months for social age, and the social quotient was 35.98. A chromosomal microarray analysis was performed and the microduplication at chromosome 16p was observed: arr[GRCh37] 16p11.2 (29580020_30190029)${\times}3$. Currently, the patient is diagnosed with Grade 2 intellectual disability and is attending a computerized cognitive rehabilitation class twice weekly. In addition, nutritional support and growth follow up are also ensured in the Pediatric Gastrointestinal and Endocrinology clinic.

• Journal of Interdisciplinary Genomics
• /
• v.1 no.1
• /
• pp.6-9
• /
• 2019

In this report, the phenotypes of three patients from two families with mucopolysaccharidosis type II (MPS II) are compared: a novel variant and recombinant variant of IDS gene. The results of urine in patients showed a pronounced increase in glycosaminoglycan excretion with decreased iduronate-2-sulfatase enzyme activity in leukocyte, leading to a diagnosis of MPS II. A patient has a novel variant with 1 bp small insertion, c.1224_1225insC in exon 9, which caused frameshifts with a premature stop codon, and two patients have a recombination variant, c.418+495_1006+1304del, leading to the loss of exons 4, 5, 6, and 7 in genomic DNA, which is relatively common in Korean patients. They had different phenotypes even in the same mutation. The patients have now been enzyme replacement therapy with a significant decrease in glycosaminoglycan excretion. Further study on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between phenotypes in MPS II and gene mutations.

• Journal of Advanced Navigation Technology
• /
• v.22 no.6
• /
• pp.500-506
• /
• 2018

In this paper, we considered the one-shot alignment using master inertial navigation system (MINS) and slave inertial navigation system (SINS) in the missile to find the exact posture of a missile. In order to perform one-shot alignment, the tilt angle between MINS and SINS must be obtained, which can be compensated by obtaining the tilt angle between missile round and SINS. The tilt angle was calculated by using the roll rotation of missile round, jig for rotating the missile round and interface structure to measure the horizontal state by using a horizontal angle meter were constructed. As a result of the tilt angle save (TAS) inspection, the tilt angle ${\alpha}$, ${\beta}$, ${\gamma}$ is normal range and it is possible to perform one-shot alignment by compensating this value.

• Journal of Korean Association for Spatial Structures
• /
• v.20 no.4
• /
• pp.123-130
• /
• 2020

Generally the non-bearing walls in apartment buildings in Korea are not considered as a lateral force resisting members for the design consideration. This engineering practice caused large crack damages and brittle fractures of the non-bearing walls when subjected to Pohang earthquakes in 2017 since those have not been designed for seismic loading. In this study, finite element analysis was conducted for slot type non-bearing wall connection system to reduce damages and concentrate damages to the designated damping device through separation from the structural wall members. Steel plate and dowel bar systems designed for the dissipation of seismic energies were modeled and analyzed to investigate the damage reductions. Finally, the test result and the analysis result were compared and verified.

• Korean Journal of Metals and Materials
• /
• v.49 no.7
• /
• pp.577-582
• /
• 2011

The newly developed ${\alpha}-case$ controlled mold material for Ti investment castings was suggested in this research. The $Al_2O_3$ mold containing interstitial $TiO_2$ and substitutional $Ti_3Al$ was manufactured by the reaction between $Al_2O_3$ and Ti. It is obvious that as the $TiO_2$ and $Ti_3Al$ content in the mold surface were increased, the depth of the interfacial reaction was significantly reduced. In addition, substitutional $Ti_5Si_3$ in the mold surface owing to the reaction between Ti and $SiO_2$ from the binder was effective for ${\alpha}-case$ reduction. Therefore, the ${\alpha}-case$ reduction was accomplished by the diffusion barrier effect of interstitial $TiO_2$, substitutional $Ti_3Al$ and $Ti_5Si_3$.

• Journal of the Korean Society for Heat Treatment
• /
• v.34 no.1
• /
• pp.25-30
• /
• 2021

The differential gear system is a device designed to distribute the driving force of both vehicle wheels and control the rotational speed when the vehicle turns on a curve. The differential device consists of a differential gear case, a ring gear, and a pressure ring. A differential pinion gear and side gear are mounted on the differential pinion shaft inside the differential gear case. In this study, a pin press-fitting device that mounts the pinier gear and side gear to the differential pinion shaft in the differential gear case was designed, and a jig device for pin press-fitting using servo press was developed. In addition, by precisely measuring the pin press-in load and press-in distance according to the pin hole diameter of the differential gear shaft, the optimization of the pin pressin process was established.

• Journal of Interdisciplinary Genomics
• /
• v.4 no.1
• /
• pp.7-10
• /
• 2022

Purpose:Maturity onset diabetes of the young (MODY) is the most common hereditary form of diabetes mellitus (DM), with similar clinical manifestations to type 1 or type 2 DM, leading to diagnostic ambiguity. Despite increased genetic research on monogenic DM, studies with Asian populations are limited. Therefore, we investigated mutation in possible monogenic DM and MODY in Korean children and aldolescents. Methods: Targeted panel exome sequencing including 32 targets genes was performed for 41 patients with suspected monogenic DM at Kyungpook National University Children's Hospital. Results: Variants were detected in 19 patients, including those in known MODY-associated genes (HNF4A, GCK, HNF1A, CEL, PAX4, INS, and BLK) and monogenic DM-associated genes (WFS1, FRX6, and GLIS3). Conclusion: MODY variants were detected more than expected. Targeted exon sequencing is helpful in diagnosing MODY or possible monogenic DM patients.

• Journal of Interdisciplinary Genomics
• /
• v.4 no.1
• /
• pp.15-18
• /
• 2022

Hemophilia A is a rare X-linked congenital deficiency of clotting factor VIII (FVIII) that is traditionally diagnosed by measuring FVIII activity. Various mutations of the FVIII gene have been reported and they influence on the FVIII protein structure. A deficiency of or reduction in FVIII protein manifests as spontaneous or induced bleeding depending on the disease severity. Mutations of the FVIII gene provide important information on the severity of disease and inhibitor development. FVIII mutations also affect the discrepant activities found using different FVIII assays. FVIII activity is affected differently depending on the mutation site. Long-range PCR is commonly used to detect intron 22 inversion, the most common mutation in severe hemophilia. However, point mutations are also common in patients with hemophilia, and direct Sanger sequencing and copy number variant analysis are being used to screen for full mutations in the FVIII gene. Advances in molecular genetic methods, such as next-generation sequencing, may enable accurate analysis of mutations in the factor VIII gene, which may be useful in the diagnosis of mild to moderate hemophilia. Genetic analysis is also useful in diagnosing carriers and managing bleeding control. This review discusses the current knowledge about mutations in hemophilia and focuses on the clinical aspects associated with these mutations and the importance of genetic analysis.

• Journal of Interdisciplinary Genomics
• /
• v.4 no.2
• /
• pp.24-30
• /
• 2022

Klinefelter's syndrome (KS) is a syndrome with extra X chromosome(s), in XY individuals, characterized by gynecomastia, small testes, and infertility. Additional X chromosomes can be present as variable karyotypic forms, including mosaicism (47,XXY/46,XY). The reported prevalence of KS ranges from one in 500 to one in 1,000 live males, but is probably underestimated. The classic phenotype is small, firm testes and infertility resulting from seminiferous tubule dysgenesis and androgen deficiency. The spectrum of KS includes tall stature with relatively long legs and arm span, decreased body hair, learning disabilities, behavioral problems, poor motor skills, and other important medical issues, such as metabolic syndrome, diabetes, autoimmune diseases, cardiovascular disease, certain neoplasia. The increased risk of certain medical problems in KS can be attributed to a direct effect of the extra X chromosome, the combined action of multiple genomic and epigenetic factors, or the hormonal imbalances. Typically, chromosome analysis is not ordered for adult patients with general medical conditions, except for suspected cases of hematologic and lymphoid disorders. Even though it was found during work-up for certain disorders in adult patient, most physicians do not suspect KS or consider its impact. Therefore, understanding the pathophysiology and variable manifestation in KS is necessary, and discussions with multidisciplinary teams will help to diagnose and treat males with KS.

• Journal of Interdisciplinary Genomics
• /
• v.4 no.2
• /
• pp.31-34
• /
• 2022

Background: Arteriovenous malformations (AVMs) are rare diseases comprising abnormally dilated arteries and veins with an absence of a capillary network. Since these diseases are intractable after diagnosis, various treatment strategies have been examined, with continuous efforts to identify target genes. Here, we report relevant new target genes selected via gene microarray. Methods: Endothelial cells were isolated from samples collected from three patients with AVM and three healthy individuals, followed by microarray analysis. Additionally, quantitative PCR was performed to select genes highly relevant to AVM. Results: In the vascular endothelial cells derived from the tissues of patients with AVM, the expression of ANGPT1, ANGPT2, DLL4, IL6, NRG1, TGFBR1, and VEGFA was typically higher compared to those derived from normal tissues. Conclusion: Seven candidate genes were selected to analyze the pathophysiological mechanism of AVM. These results may aid in future directions of diagnosis and treatment.