• Title/Summary/Keyword: genetic defects

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An Evolutionary Algorithm preventing Consanguineous Marriage

  • Woojin Oh;Oh, Se-Young
    • 제어로봇시스템학회:학술대회논문집
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    • 2002.10a
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    • pp.110.2-110
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    • 2002
  • Evolutionary Algorithm is the general method that can search the optimum value for the various problems. Evolutionary method consists of random selection, crossover, mutation, etc. Since the next generation is selected based on the fitness values, the crossover between chromosomes does not have any restrictions. Not only normal marriage but also consanguineous marriage will take place. In human world, consanguineous marriage was reported to cause various genetic defects, such as poor immunity about new diseases and new environment disaster, These problems translate into searching for the local optimum, not the global optimum. So, a new evolutionary algorithm is needed that prevents traps to...

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A Systematic Approach to Improve Fuzzy C-Mean Method based on Genetic Algorithm

  • Ye, Xiao-Yun;Han, Myung-Mook
    • International Journal of Fuzzy Logic and Intelligent Systems
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    • v.13 no.3
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    • pp.178-185
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    • 2013
  • As computer technology continues to develop, computer networks are now widely used. As a result, there are many new intrusion types appearing and information security is becoming increasingly important. Although there are many kinds of intrusion detection systems deployed to protect our modern networks, we are constantly hearing reports of hackers causing major disruptions. Since existing technologies all have some disadvantages, we utilize algorithms, such as the fuzzy C-means (FCM) and the support vector machine (SVM) algorithms to improve these technologies. Using these two algorithms alone has some disadvantages leading to a low classification accuracy rate. In the case of FCM, self-adaptability is weak, and the algorithm is sensitive to the initial value, vulnerable to the impact of noise and isolated points, and can easily converge to local extrema among other defects. These weaknesses may yield an unsatisfactory detection result with a low detection rate. We use a genetic algorithm (GA) to help resolve these problems. Our experimental results show that the combined GA and FCM algorithm's accuracy rate is approximately 30% higher than that of the standard FCM thereby demonstrating that our approach is substantially more effective.

Kabuki syndrome: clinical and molecular characteristics

  • Cheon, Chong-Kun;Ko, Jung Min
    • Clinical and Experimental Pediatrics
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    • v.58 no.9
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    • pp.317-324
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    • 2015
  • Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.

Genetic Causes in Male Infertility of Human (남성 불임의 유전성 요인)

  • 김의수;이건수
    • Development and Reproduction
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    • v.3 no.1
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    • pp.1-13
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    • 1999
  • It is believed that genetic defects make an important contribution to male infertility. Since spermatogenesis is such a complex process, it seems inevitable that many genes are involved in controlling the entire development of germ cells. Genes for infertility, however, are considered to be only those which are defected in the reproduction ability, but normal in other functions. Microdeletions of the Y chromosome have been observed frequently in infertile males. At least two genes, RBM and DAZ, are known to present in the loci where microdeletions occur frequently. A number of autosomal genes were also considered as candidates of infertility genes, based on phenotypes of knockout mice that were deficient of these genes.

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Application of artificial neural network for the critical flow prediction of discharge nozzle

  • Xu, Hong;Tang, Tao;Zhang, Baorui;Liu, Yuechan
    • Nuclear Engineering and Technology
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    • v.54 no.3
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    • pp.834-841
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    • 2022
  • System thermal-hydraulic (STH) code is adopted for nuclear safety analysis. The critical flow model (CFM) is significant for the accuracy of STH simulation. To overcome the defects of current CFMs (low precision or long calculation time), a CFM based on a genetic neural network (GNN) has been developed in this work. To build a powerful model, besides the critical mass flux, the critical pressure and critical quality were also considered in this model, which was seldom considered before. Comparing with the traditional homogeneous equilibrium model (HEM) and the Moody model, the GNN model can predict the critical mass flux with a higher accuracy (approximately 80% of results are within the ±20% error limit); comparing with the Leung model and the Shannak model for critical pressure prediction, the GNN model achieved the best results (more than 80% prediction results within the ±20% error limit). For the critical quality, similar precision is achieved. The GNN-based CFM in this work is meaningful for the STH code CFM development.

Health monitoring of pressurized pipelines by finite element method using meta-heuristic algorithms along with error sensitivity assessment

  • Amirmohammad Jahan;Mahdi Mollazadeh;Abolfazl Akbarpour;Mohsen Khatibinia
    • Structural Engineering and Mechanics
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    • v.87 no.3
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    • pp.211-219
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    • 2023
  • The structural health of a pipeline is usually assessed by visual inspection. In addition to the fact that this method is expensive and time consuming, inspection of the whole structure is not possible due to limited access to some points. Therefore, adopting a damage detection method without the mentioned limitations is important in order to increase the safety of the structure. In recent years, vibration-based methods have been used to detect damage. These methods detect structural defects based on the fact that the dynamic responses of the structure will change due to damage existence. Therefore, the location and extent of damage, before and after the damage, are determined. In this study, fuzzy genetic algorithm has been used to monitor the structural health of the pipeline to create a fuzzy automated system and all kinds of possible failure scenarios that can occur for the structure. For this purpose, the results of an experimental model have been used. Its numerical model is generated in ABAQUS software and the results of the analysis are used in the fuzzy genetic algorithm. Results show that the system is more accurate in detecting high-intensity damages, and the use of higher frequency modes helps to increase accuracy. Moreover, the system considers the damage in symmetric regions with the same degree of membership. To deal with the uncertainties, some error values are added, which are observed to be negligible up to 10% of the error.

Molecular diagnosis of spinal muscular atrophy

  • Lee, Ki-Sun;Hwang, Hee-Yu;Lee, Key-Hyoung;Park, Moon-Sung;Hahn, Si-Houn;Hong, Chang-Ho
    • Journal of Genetic Medicine
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    • v.1 no.1
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    • pp.33-37
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    • 1997
  • Spinal muscular atrophy (SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5 (5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron (SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein (NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the significance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.

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A Case Report of Holoprosencephaly (전전뇌증(Holoprosencephaly)의 증례보고)

  • Song, Seung Han;Kang, Nak Heon
    • Archives of Plastic Surgery
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    • v.34 no.4
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    • pp.528-530
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    • 2007
  • Purpose: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate. Methods: A female newborn infant was born at $38^{+6}$ weeks' gestational age via NSVD. The infant's birth weight was 3.6 kg, height 52 cm, and head circumference 32.5 cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella. Results: There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE. Conclusion: HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.

The Membrane-Bound Protein, MoAfo1, Is Involved in Sensing Diverse Signals from Different Surfaces in the Rice Blast Fungus

  • Sadat, Md Abu;Han, Joon-Hee;Kim, Seongbeom;Lee, Yong-Hwan;Kim, Kyoung Su;Choi, Jaehyuk
    • The Plant Pathology Journal
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    • v.37 no.2
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    • pp.87-98
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    • 2021
  • To establish an infection, fungal pathogens must recognize diverse signals from host surfaces. The rice blast fungus, Magnaporthe oryzae, is one of the best models studying host-pathogen interactions. This fungus recognizes physical or chemical signals from the host surfaces and initiates the development of an infection structure called appressorium. Here, we found that protein MoAfo1(appressorium formation, MGG_10422) was involved in sensing signal molecules such as cutin monomers and long chain primary alcohols required for appressorium formation. The knockout mutant (ΔMoafo1) formed a few abnormal appressoria on the onion and rice sheath surfaces. However, it produced normal appressoria on the surface of rice leaves. MoAfo1 localized to the membranes of the cytoplasm and vacuole-like organelles in conidia and appressoria. Additionally, the ΔMoafo1 mutant showed defects in appressorium morphology, appressorium penetration, invasive growth, and pathogenicity. These multiple defects might be partially due to failure to respond properly to oxidative stress. These findings broaden our understanding of the fungal mechanisms at play in the recognition of the host surface during rice blast infection.

Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations

  • Murat Cakir ;Nalan Yakici ;Elif Sag ;Gulay Kaya ;Aysenur Bahadir;Alper Han Cebi ;Fazil Orhan
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.26 no.4
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    • pp.201-212
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    • 2023
  • Purpose: The gastrointestinal system is the most commonly affected organ, followed by the lungs, in patients with primary immunodeficiency disease (PID). Hence, it is common for children with PIDs to present with gastrointestinal symptoms. We aimed to analyze the clinical and histopathological findings of patients who were initially admitted to pediatric gastroenterology/hepatology clinics and subsequently diagnosed with PIDs to identify the clinical clues for PIDs. Methods: The demographic, laboratory, and histopathological findings, treatment modality, and outcomes of patients initially admitted to the pediatric gastroenterology/hepatology unit and subsequently diagnosed with PIDs were recorded. Results: The study included 24 patients (58.3% male; median age [range]: 29 [0.5-204] months). Common clinical presentations included chronic diarrhea (n=8), colitis (n=6), acute hepatitis (n=4), and acute liver failure (n=2). The association of autoimmune diseases, development of malignant diseases, and severe progression of viral diseases was observed in 20.8%, 8.3%, and 16.6% of the patients, respectively. Antibody deficiency was predominantly diagnosed in 29.2% of patients, combined immunodeficiency in 20.8%, immune dysregulation in 12.5%, defects in intrinsic and innate immunity in 4.2%, autoinflammatory disorders in 8.3%, and congenital defects of phagocytes in 4.2%. Five patients remained unclassified (20.8%). Conclusion: Patients with PIDs may initially experience gastrointestinal or liver problems. It is recommended that the association of autoimmune or malignant diseases or severe progression of viral diseases provide pediatric gastroenterologists some suspicion of PIDs. After screening using basic laboratory tests, genetic analysis is mandatory for a definitive diagnosis.