• 한국콘텐츠학회논문지
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• 제22권2호
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• pp.762-769
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• 2022

산전 진단에서 유전자 검사는 임상 관리 및 부모의 의사 결정에 중요한 정보를 제공하고 있다. 지난 여러 해 동안 G-banidng 핵형 분석, 형광성 제자리 교잡 방법, 염색체 마이크로어레이 및 유전자 패널과 같은 세포유전학적 검사 방법들이 일반적인 산전 진단의 검사의 일부가 되어 발전해 왔다. 그러나 이러한 각각의 방법은 한계를 가지고 있으며 각각의 진단 기술의 단점들을 보완할 수 있는 혁신적인 검사 방법의 도입의 필요성이 매우 필요한 시점이다. 최근 차세대 염기서열 분석에 기반한 유전체 분석 방법의 도입은 현재의 산전 진단에서의 관행에 많은 변화를 주고 있다. 이렇게 산전 진단에서의 유전체 단위의 염기서열 분석은 정교한 해상도와 높은 정확도를 통해 데이터를 빠르게 분석하고 비용을 감소시키는 기술의 혁신을 보여주고 있다. 따라서 본 논문에서는 시퀀싱 기반 산전 진단의 현재 상태와 관련 과제 및 미래 전망에 대하여 검토해 보았다.

• The Korean Journal of Medicine
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• 제99권1호
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• pp.11-16
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• 2024

Myelodysplastic syndrome (MDS) is a heterogeneous disorder with diverse prognoses influenced by cytopenias, genetic variants, and myeloblast proportions in the bone marrow. Accurate prognosis prediction and tailored treatment plans are essential. The International Prognostic Scoring System-Molecular (IPSS-M), which additionally reflects the impact of MDS-related genetic mutations to the clinical and laboratory information, is anticipated to offer superior prognostic accuracy compared to existing systems like the Revised International Prognostic Scoring System (IPSS-R). Despite its statistical complexity, its web-based calculation and ease of discussing results with patients using intuitive data sets provide notable advantages. Progress in MDS treatment, exemplified by effective anemia correction with an erythropoiesis-maturation agent in SF3B1-mutated cases and efforts to refine poor prognoses in TP53-mutated cases, reflects the evolving landscape of genetic-based interventions in MDS. Advancements in genetic diagnostic technology, combined with enhanced knowledge of the bone marrow niche, are anticipated to lead to significant improvement in MDS treatment outcomes in the future.

• Asian-Australasian Journal of Animal Sciences
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• 제27권5호
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• pp.616-627
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• 2014

The Lanyu is a miniature pig breed indigenous to Lanyu Island, Taiwan. It is distantly related to Asian and European pig breeds. It has been inbred to generate two breeds and crossed with Landrace and Duroc to produce two hybrids for laboratory use. Selecting sets of informative genetic markers to track the genetic qualities of laboratory animals and stud stock is an important function of genetic databases. For more than two decades, Lanyu derived breeds of common ancestry and crossbreeds have been used to examine the effectiveness of genetic marker selection and optimal approaches for individual assignment. In this paper, these pigs and the following breeds: Berkshire, Duroc, Landrace and Yorkshire, Meishan and Taoyuan, TLRI Black Pig No. 1, and Kaohsiung Animal Propagation Station Black pig are studied to build a genetic reference database. Nineteen microsatellite markers (loci) provide information on genetic variation and differentiation among studied breeds. High differentiation index ($F_{ST}$) and Cavalli-Sforza chord distances give genetic differentiation among breeds, including Lanyu's inbred populations. Inbreeding values ($F_{IS}$) show that Lanyu and its derived inbred breeds have significant loss of heterozygosity. Individual assignment testing of 352 animals was done with different numbers of microsatellite markers in this study. The testing assigned 99% of the animals successfully into their correct reference populations based on 9 to 14 markers ranking D-scores, allelic number, expected heterozygosity ($H_E$) or $F_{ST}$, respectively. All miss-assigned individuals came from close lineage Lanyu breeds. To improve individual assignment among close lineage breeds, microsatellite markers selected from Lanyu populations with high polymorphic, heterozygosity, $F_{ST}$ and D-scores were used. Only 6 to 8 markers ranking $H_E$, $F_{ST}$ or allelic number were required to obtain 99% assignment accuracy. This result suggests empirical examination of assignment-error rates is required if discernible levels of co-ancestry exist. In the reference group, optimum assignment accuracy was achievable achieved through a combination of different markers by ranking the heterozygosity, $F_{ST}$ and allelic number of close lineage populations.

• Clinical and Experimental Pediatrics
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• 제56권2호
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• pp.52-59
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• 2013

Cardiomyopathy (CMP) is a heterogeneous disease caused by a functional abnormality of the cardiac muscle. CMP is of 2 major types, dilated and hypertrophic, and is further classified as either primary or secondary. Secondary CMP is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders. Primary CMP is diagnosed when the extrinsic factors of secondary CMP are absent. Furthermore, the World Health Organization, American Heart Association, and European Cardiology Association have different systems for clinically classifying primary CMP. Primary CMP is rare and associated with a family history of the disease, implying that genetic factors might affect its incidence. In addition, the incidence of CMP varies widely according to patient ethnicity. Genetic testing plays an important role in the care of patients with CMP and their families because it confirms diagnosis, determines the appropriate care for the patient, and possibly affects patient prognosis. The diagnosis and genetic identification of CMP in patients' families allow the possibility to identify novel genes that may lead to new treatments. This review focuses on the epidemiology, pathophysiology, diagnosis, and treatment of CMP, with the aim of providing pediatricians with insights that may be helpful in the early identification and management of idiopathic CMP in children.

• Archives of Plastic Surgery
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• 제47권3호
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• pp.203-208
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• 2020

Vascular anomalies are congenital localized abnormalities that result from improper development and maintenance of the vasculature. The lesions of vascular anomalies vary in location, type, and clinical severity of the phenotype, and the current treatment options are often unsatisfactory. Most vascular anomalies are sporadic, but patterns of inheritance have been noted in some cases, making genetic analysis relevant. Developments in the field of genomics, including next-generation sequencing, have provided novel insights into the genetic and molecular pathophysiological mechanisms underlying vascular anomalies. These insights may pave the way for new approaches to molecular diagnosis and potential disease-specific therapies. This article provides an introduction to genetic testing for vascular anomalies and presents a brief summary of the etiology and genetics of vascular anomalies.

• 미생물학회지
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• 제29권4호
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• pp.215-220
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• 1991

MudJ(Km.lac) operon fusions were used in the identification of osmotic-inducible genetic(osi) loci in Salmonella typhimurium. Expression of osi::lacZ(osi5001, 5027) genes were dramatically induced 39-189 fold when the osmolarity was increased. Seven osm::lacZ genes were constituvely expressed under both low and high osmotic strength. The osi5001::lacZ fusion strains showed the enhanced osmotolerance and the reduced expression of the osi5001::lacZ in the presence of 1mM proline or betaine as osmoprotectants. Four osmotic inducible genetic loci were mapped into 36 (YK531), 44 (YK504), 57 (YK501) and 84 (YK528) map unit by testing the cotransduction frequency.

• 동력기계공학회지
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• 제22권6호
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• pp.80-86
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• 2018

A damper is a hydraulic device designed to absorb or eliminate shock impulses which is acting on the sprung mass of car body. It converts the kinetic energy of the shock into another form of energy, typically heat. The main mechanism for providing damping is by shearing the hydraulic fluid as it flows through restrictions. Since the damping mechanism depends on the flow restrictions, these restrictions are very important in damper design. Damper engineers often try several combinations of valve shims, piston orifices and bleed orifices before finding the best combination for a particular setup on a car. Therefore, the ability to tune a damper properly without testing is of great interest in damper design. For this reason, many previous researches have been done on modeling and simulation of the damper. This paper explains a genetic algorithm method to find the optimal parameters for the design objective and the simulation results agree well with the targeted damping characteristics.

• Smart Structures and Systems
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• 제10권1호
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• pp.47-65
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• 2012

The presence of crack-like defects in mechanical and structural elements produces failures during their service life that in some cases can be catastrophic. So, the early detection of the fatigue cracks is particularly important because they grow rapidly, with a propagation velocity that increases exponentially, and may lead to long out-of-service periods, heavy damages of machines and severe economic consequences. In this work, a non-destructive method for the detection and identification of elliptical cracks in shafts based on stress wave propagation is proposed. The propagation of a stress wave in a cracked shaft has been numerically analyzed and numerical results have been used to detect and identify the crack through the genetic algorithm optimization method. The results obtained in this work allow the development of an on-line method for damage detection and identification for cracked shaft-like components using an easy and portable dynamic testing device.

• Clinical and Experimental Pediatrics
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• 제64권4호
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• pp.149-156
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• 2021

Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous cafe-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients are at risk for developing tumors of the central and peripheral nervous system. Therefore, adequate counseling for genetic testing, age-appropriate surveillance, and management are important. This review suggests several issues that should be considered to help general pediatricians provide adequate clinical care and genetic counseling to patients with NF1 and their families.

• Computers and Concrete
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• 제17권4호
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• pp.489-498
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• 2016

In this paper, the flexural strength ($f_{fs}$) and splitting tensile strength ($f_{sts}$) of concrete containing different proportions of fly ash have been modeled by using gene expression programming (GEP). Two GEP models called GEP-I and GEP-II are constituted to predict the $f_{fs}$ and $f_{sts}$ values, respectively. In these models, the age of specimen, cement, water, sand, aggregate, superplasticizer and fly ash are used as independent input parameters. GEP-I model is constructed by 292 experimental data and trisected into 170, 86 and 36 data for training, testing and validating sets, respectively. Similarly, GEP-II model is constructed by 278 experimental data and trisected into 142, 70 and 66 data for training, testing and validating sets, respectively. The experimental data used in the validating set of these models are independent from the training and testing sets. The results of the statistical parameters obtained from the models indicate that the proposed empirical models have good prediction and generalization capability.