• 대한생식의학회:학술대회논문집
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• 대한불임학회 2004년도 제46차 춘계학술대회
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• pp.31-38
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• 2004

• Korean Journal of Radiology
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• 제22권11호
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• pp.1858-1874
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• 2021

Recent advances in the molecular and genetic characterization of central nervous system (CNS) tumors have ushered in a new era of tumor classification, diagnosis, and prognostic assessment. In this emerging and rapidly evolving molecular genetic era, imaging plays a critical role in the preoperative diagnosis and surgical planning, molecular marker prediction, targeted treatment planning, and post-therapy assessment of CNS tumors. This review provides an overview of the current imaging methods relevant to the molecular genetic classification of CNS tumors. Specifically, we focused on 1) the correlates between imaging features and specific molecular genetic markers and 2) the post-therapy imaging used for therapeutic assessment.

• Journal of Electrical Engineering and Technology
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• 제2권3호
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• pp.353-357
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• 2007

The bearing diagnostics method is presented in this paper using fuzzy inference based on vibration data. Both time-domain and frequency-domain features are used as input data for bearing fault detection. The Adaptive Network based Fuzzy Inference System (ANFIS) and Genetic Algorithm (GA) have been proposed to select the fuzzy model input and output parameters. Training results give the optimized fuzzy inference system for bearing diagnosis based on measured vibration data. The result is also tested with other sets of bearing data to illustrate the reliability of the chosen model.

• 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.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.43-47
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• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

• Childhood Kidney Diseases
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• 제28권1호
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• pp.8-15
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• 2024

With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from selecting appropriate tests to the final interpretation of results. This review examines various genetic testing methodologies, each with specific indications and characteristics, emphasizing the importance of selecting the appropriate genetic test in clinical practice, taking into account factors like detection range, cost, turnaround time, and specificity of the clinical diagnosis. Interpretation of variants has become more challenging, often requiring further validation and significant resource allocation. Laboratories primarily classify variants based on the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science guidelines, however, this process has limitations. This review underscores the critical role of clinicians in matching patient phenotypes with reported genes/variants and considering additional factors such as variable expressivity, disease pleiotropy, and incomplete penetrance. These considerations should be aligned with specific gene-disease characteristics and segregation results based on an extended pedigree. In conclusion, this review aims to enhance understanding of the complexities of clinical genetic testing, advocating for a multidisciplinary approach to ensure accurate diagnosis and effective management of rare genetic diseases.

• 한국경영과학회:학술대회논문집
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• 한국경영과학회/대한산업공학회 2005년도 춘계공동학술대회 발표논문
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• pp.960-968
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• 2005

The high cost in maintaining complex manufacturing process makes it necessary to enhance an efficient maintenance system. For the effective maintenance of manufacturing process, precise fault diagnosis should be performed and an appropriate maintenance action should be executed. This paper suggests an intelligent fault diagnosis system using hybrid data mining. In this system, the rules for the fault diagnosis are generated by hybrid decision tree/genetic algorithm and the most effective maintenance action is selected by decision network and AHP. To verify the proposed intelligent fault diagnosis system, we compared the accuracy of the hybrid decision tree/genetic algorithm with one of the general decision tree learning algorithm(C4.5) by data collected from a coil-spring manufacturing process.

• 대한전기학회:학술대회논문집
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• 대한전기학회 2005년도 심포지엄 논문집 정보 및 제어부문
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• pp.24-26
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• 2005

At present, KS-1000 which is one of a commercial measurement instrument for motor fault diagnosis has been used in industrial field. The measurement system of KS-1000 is composed of three part : harmonic acquisition, signal processing by KS-1000 algorithm, diagnosis for motor fault. First of all, voltage signal taken from harmonic sensor is analysed for frequency by KS-1000 algorithm. Then, based on the result values of analysis skilled expert makes a judgment about whether motor system is the abnormality or degradation state. But the expert system such a motor fault diagnosis is very difficult to bring the expectable results by mathematical modeling due to the complexity of judgment process. In this reason, we propose an automation system using fuzzy model based on genetic algorithm(GA) that builded a qualitative model of a system without priori knowledge about a system provided numerical input output data.

• Molecules and Cells
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• 제39권5호
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• pp.382-388
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• 2016

Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported as genetic causatives and the number is still growing. We prepared a targeted gene panel for IPN diagnosis based on next generation sequencing (NGS). The gene panel was designed to detect mutations in 73 genes reported to be genetic causes of IPN or related peripheral neuropathies, and to detect duplication of the chromosome 17p12 region, the major genetic cause of CMT1A. We applied the gene panel to 115 samples from 63 non-CMT1A families, and isolated 15 pathogenic or likelypathogenic mutations in eight genes from 25 patients (17 families). Of them, eight mutations were unreported variants. Of particular interest, this study revealed several very rare mutations in the SPTLC2, DCTN1, and MARS genes. In addition, the effectiveness of the detection of CMT1A was confirmed by comparing five 17p12-nonduplicated controls and 15 CMT1A cases. In conclusion, we developed a gene panel for one step genetic diagnosis of IPN. It seems that its time- and cost-effectiveness are superior to previous tiered-genetic diagnosis algorithms, and it could be applied as a genetic diagnostic system for inherited peripheral neuropathies.

• Clinical and Experimental Reproductive Medicine
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• 제24권1호
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• pp.51-56
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• 1997

Recently, through the development of the primer extension preamplification(PEP) method which amplifies the whole genome, simultaneous multiple DNA analysis has become possible. Whole genome from each single cell can be amplified using 15 base oligonucleotide random primer. The greatest advantage of PEP-PCR is the ability to investigate several loci simultaneously and confirm results by analysing multiple aliquots for each locus. This technique led to the development of preimplantation genetic disease diagnosis using blastomere from early embryo, sperm, polar body and oocyte. In this study, we applied PEP-PCR in 20 cases of single amniocyte and 20 cases of single chorionic villus cell for the clinical application of the prenatal and preimplantational genetic diagnosis. We analysed 7 gene loci simultaneously which are 46, 47 exons related to dystrophin gene, two VNTR (variable number tandem repeat) markers using 5'dysIII, 3'CA related to dystrophin gene and DYZ1, DYZ3, DYS14 regions on chromosome Y. In all the tests, 97.5% of PEP-PCR amplifications with single cells were successful. We obtained 38/40 (95%) accuracy in gender determination through chromosome analysis comparison. Therefore, these results have significant implications for a sperm or oocyte analysis and prenatal or preimplantational genetic diagnosis.