• Title/Summary/Keyword: Deletion

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Ecotoxicological Responses and Morphological Abnormalities in Chironomus plumosus Larvae Exposed to 4-tert-octylphenol (4-tert-octylphenol에 노출된 장수깔따구 Chironomus plumosus의 생태독성 반응과 기형)

  • Bang, Hyun-Woo;Lee, Chang-Hoon;Jung, Kyung-Suk;Kwak, Inn-Sil
    • Environmental Analysis Health and Toxicology
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    • v.23 no.4
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    • pp.277-284
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    • 2008
  • The ecotoxicological effects of 4-tert-octylphenol were observed on non-biting midge, Chironomus plumosus collected from Anyang stream in Seoul. The survival rate and adult emergence rate on C. plumosus exposed to octylphenol were not significantly affected. However, 4-tert-octylphenol induced developmental delay and disrupted sex ratio in high concentration of octylphenol. The mouth deformity such as tooth deletion or fusion in mentum, and tooth deletion in mandible were observed exposure to 4-tert-octylphenol. The deformity type of the mentum showed deletion (LT, 6.7%), and fusion (LT, 6.3%). Moreover, tooth deletion of mandible was observed in 4-tert-octylphenol treated groups (6.7%, 3 ppm).

Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

  • Hyun, Ju Kyung;Jung, Yu Jin
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.115-119
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    • 2018
  • The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220- kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.

CASE INFLUENCE ON MULTIPLE CORRELATION COEFFICIENT

  • KIM, Myung-Geun
    • Journal of applied mathematics & informatics
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    • v.19 no.1_2
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    • pp.521-525
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    • 2005
  • Case deletion diagnostic for multiple correlation coefficient is considered. A method of detecting observations that can hide or create multicollinearity is suggested. A numerical example is given for illustration.

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

  • Seo, Go Hun;Kim, Ja Hye;Cho, Ja Hyang;Kim, Gu-Hwan;Seo, Eul-Ju;Lee, Beom Hee;Choi, Jin-Ho;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • v.59 no.1
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    • pp.16-23
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    • 2016
  • Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

A Selective Video Data Deletion Algorithm to Free Up Storage Space in Video Proxy Server (비디오 프록시 서버에서의 저장 공간 확보를 위한 선택적 동영상 데이터 삭제 알고리즘)

  • Lee, Jun-Pyo;Park, Sung-Han
    • Journal of the Institute of Electronics Engineers of Korea CI
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    • v.46 no.4
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    • pp.121-126
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    • 2009
  • Video poxy server which is located near clients can store the frequently requested video data in storage space in order to minimize initial latency and network traffic significantly. However, due to the limited storage space in video proxy server, an appropriate deletion algorithm is needed to remove the old video data which is not serviced for a long time. Thus, we propose an efficient video data deletion algorithm for video proxy server. The proposed deletion algorithm removes the video which has the lowest request possibility based on the user access patterns. In our algorithm, we arrange the videos which are stored in video proxy server according to the requested time sequence and then, select the video which has the oldest requested time. The selected video is partially removed in order to free up storage space in video poky server. The simulation results show that the proposed algorithm performs better than other algorithms in terms of the block hit rate and the number of block deletion.

Frequent Genetic Defects in the HIV-1 5'LTR/gag Gene in Hemophiliacs Treated with Korean Red Ginseng: Decreased Detection of Genetic Defects by Highly Active Antiretroviral Therapy

  • Cho, Young-Keol;Jung, You-Sun;Sung, Heung-Sup;Joo, Chul-Hyun
    • Journal of Ginseng Research
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    • v.35 no.4
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    • pp.413-420
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    • 2011
  • We investigated whether Korean red ginseng (KRG) and highly active antiretroviral therapy (HAART) affect the frequency of gross deletion in 5'LTR/gag in 20 hemophiliacs. This study is a prospective study in 20 hemophiliacs who were infected with Korean subclade B of HIV-1 from two cash-paid plasma donors in 1990. Over a 13-year period, we obtained 436 amplicons of 5'LTR/gag genes by nested polymerase chain reaction using 147 peripheral blood mononuclear cells. Of the 436 amplicons, 92 (21.1%) showed gross deletion in 5'LTR/gag. Despite of a 2.3-fold higher monthly dose of KRG intake, the frequency of gross deletion in 5'LTR/gag (16.4%) was significantly decreased during HAART compared with 28.1% prior to HAART (p<0.01). Gross deletion in 5'LTR/gag was 10% more detected on KRG-therapy than prior to KRG-therapy (p<0.05). In addition, we also obtained 28 amplicons containing premature stop codon or isoleucine at initiation codon of 254 amplicons sequenced on KRG intake (7.5%) or HAART (13.6%) compared with 0% before KRG intake. These findings indicate that high frequency of gross deletion in 5'LTR/gag and genetic defects prior to HAART are significantly associated with KRG intake and the detection of gross deletion in 5'LTR/gag is decreased by HAART.

1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis

  • Kang, Dong Soo;Shin, Eunsim;Yu, Jeesuk
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.14-18
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    • 2016
  • Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year-and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

Secure Deletion for Flash Memory File System (플래시메모리 파일시스템을 위한 안전한 파일 삭제 기법)

  • Sun, Kyoung-Moon;Choi, Jong-Moo;Lee, Dong-Hee;Noh, Sam-H.
    • Journal of KIISE:Computing Practices and Letters
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    • v.13 no.6
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    • pp.422-426
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    • 2007
  • Personal mobile devices equipped with non-volatile storage such as MP3 player, PMP, cellular phone, and USB memory require safety for the stored data on the devices. One of the safety requirements is secure deletion, which is removing stored data completely so that the data can not be restored illegally. In this paper, we study how to design the secure deletion on Flash memory, commonly used as storage media for mobile devices. We consider two possible secure deletion policy, named zero-overwrite and garbage-collection respectively, and analyze how each policy affects the performance of Flash memory file systems. Then, we propose an adaptive file deletion scheme that exploits the merits of the two possible policies. Specifically, the proposed scheme applies the zero-overwrite policy for small files, whereas it employs the garbage-collection policy for large files. Real implementation experiments show that the scheme is not only secure but also efficient.

Deletion of the oligopeptide transporter Lmo2193 decreases the virulence of Listeria monocytogenes

  • Li, Honghuan;Qiao, Yanjie;Du, Dongdong;Wang, Jing;Ma, Xun
    • Journal of Veterinary Science
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    • v.21 no.6
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    • pp.88.1-88.13
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    • 2020
  • Background: Listeria monocytogenes is a gram-positive bacterium that causes listeriosis mainly in immunocompromised hosts. It can also cause foodborne outbreaks and has the ability to adapt to various environments. Peptide uptake in gram-positive bacteria is enabled by oligopeptide permeases (Opp) in a process that depends on ATP hydrolysis by OppD and F. Previously a putative protein Lmo2193 was predicted to be OppD, but little is known about the role of OppD in major processes of L. monocytogenes, such as growth, virulence, and biofilm formation. Objectives: To determine whether the virulence traits of L. monocytogenes are related to OppD. Methods: In this study, Lmo2193 gene deletion and complementation strains of L. monocytogenes were generated and compared with a wild-type strain for the following: adhesiveness, invasion ability, intracellular survival, proliferation, 50% lethal dose (LD50) to mice, and the amount bacteria in the mouse liver, spleen, and brain. Results: The results showed that virulence of the deletion strain was 1.34 and 0.5 orders of magnitude higher than that of the wild-type and complementation strains, respectively. The function of Lmo2193 was predicted and verified as OppD from the ATPase superfamily. Deletion of lmo2193 affected the normal growth of L. monocytogenes, reduced its virulence in cells and mice, and affected its ability to form biofilms. Conclusions: Deletion of the oligopeptide transporter Lmo2193 decreases the virulence of L. monocytogenes. These effects may be related to OppD's function, which provides a new perspective on the regulation of oligopeptide transporters in L. monocytogenes.

Qualitative and Quantitative Magnetic Resonance Imaging Phenotypes May Predict CDKN2A/B Homozygous Deletion Status in Isocitrate Dehydrogenase-Mutant Astrocytomas: A Multicenter Study

  • Yae Won Park;Ki Sung Park;Ji Eun Park;Sung Soo Ahn;Inho Park;Ho Sung Kim;Jong Hee Chang;Seung-Koo Lee;Se Hoon Kim
    • Korean Journal of Radiology
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    • v.24 no.2
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    • pp.133-144
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    • 2023
  • Objective: Cyclin-dependent kinase inhibitor (CDKN)2A/B homozygous deletion is a key molecular marker of isocitrate dehydrogenase (IDH)-mutant astrocytomas in the 2021 World Health Organization. We aimed to investigate whether qualitative and quantitative MRI parameters can predict CDKN2A/B homozygous deletion status in IDH-mutant astrocytomas. Materials and Methods: Preoperative MRI data of 88 patients (mean age ± standard deviation, 42.0 ± 11.9 years; 40 females and 48 males) with IDH-mutant astrocytomas (76 without and 12 with CDKN2A/B homozygous deletion) from two institutions were included. A qualitative imaging assessment was performed. Mean apparent diffusion coefficient (ADC), 5th percentile of ADC, mean normalized cerebral blood volume (nCBV), and 95th percentile of nCBV were assessed via automatic tumor segmentation. Logistic regression was performed to determine the factors associated with CDKN2A/B homozygous deletion in all 88 patients and a subgroup of 47 patients with histological grades 3 and 4. The discrimination performance of the logistic regression models was evaluated using the area under the receiver operating characteristic curve (AUC). Results: In multivariable analysis of all patients, infiltrative pattern (odds ratio [OR] = 4.25, p = 0.034), maximal diameter (OR = 1.07, p = 0.013), and 95th percentile of nCBV (OR = 1.34, p = 0.049) were independent predictors of CDKN2A/B homozygous deletion. The AUC, accuracy, sensitivity, and specificity of the corresponding model were 0.83 (95% confidence interval [CI], 0.72-0.91), 90.4%, 83.3%, and 75.0%, respectively. On multivariable analysis of the subgroup with histological grades 3 and 4, infiltrative pattern (OR = 10.39, p = 0.012) and 95th percentile of nCBV (OR = 1.24, p = 0.047) were independent predictors of CDKN2A/B homozygous deletion, with an AUC accuracy, sensitivity, and specificity of the corresponding model of 0.76 (95% CI, 0.60-0.88), 87.8%, 80.0%, and 58.1%, respectively. Conclusion: The presence of an infiltrative pattern, larger maximal diameter, and higher 95th percentile of the nCBV may be useful MRI biomarkers for CDKN2A/B homozygous deletion in IDH-mutant astrocytomas.