• 제목/요약/키워드: Deletion

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

  • 방현우;이창훈;정경숙;곽인실
    • Environmental Analysis Health and Toxicology
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    • 제23권4호
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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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    • 제15권2호
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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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    • 제19권1_2호
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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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    • 제59권1호
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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.

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

  • 이준표;박성한
    • 전자공학회논문지CI
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    • 제46권4호
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    • pp.121-126
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    • 2009
  • 비디오 프록시 서버는 사용자와 근거리에 위치한 서버로서 자주 요청되는 동영상 데이터들을 저장하고 사용자에게 직접 전송함으로써 초기 전송 지연과 네트워크 트래픽을 효과적으로 감소시킨다. 그러나 비디오 프록시 서버는 원격지의 중앙 비디오 서버에 비해 비교적 제한된 저장 공간을 가진다. 따라서 오랜 시간동안 사용자에 의해 요청되지 않은 동영상 데이터를 비디오프록시 서버로부터 제거하는 삭제 알고리즘이 필요하다. 본 논문에서는 사용자의 동영상 요청 패턴을 기반으로 하여 사용자에 의해 요청될 가능성이 가장 낮은 동영상을 선정하고 제거하는 효율적인 동영상 데이터 삭제 알고리즘을 제안한다. 제안하는 삭제 알고리즘은 비디오 프록시 서버의 공간 부족 시 저장되어 있는 동영상들을 요청된 순서로 정렬하고 여기서 가장 오래전에 사용자에 의해 요청되었던 동영상을 선정한다. 선정된 동영상에서 요청 가능성이 낮은 부분만이 선별되어 삭제됨으로써 비디오 프록시 서버의 저장 공간을 확보한다. 실험을 통해 제안하는 알고리즘이 기존의 알고리즘 보다 높은 적중률을 보이는 동시에 보다 적은 삭제 횟수를 보인다는 것을 확인한다.

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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    • 제35권4호
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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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    • 제59권sup1호
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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.

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

  • 선경문;최종무;이동희;노삼혁
    • 한국정보과학회논문지:컴퓨팅의 실제 및 레터
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    • 제13권6호
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    • pp.422-426
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    • 2007
  • 휴대전화, MP3플레이어 및 PMP, USB 메모리 저장장치와 같은 개인용 멀티미디어 및 저장용 이동기기의 사용이 보편화되면서 이동기기에 저장되는 데이타에 대한 안전성이 요구되고 있다. 요구되는 안전성 중 한 가지는 안전한 파일 삭제인데, 이것은 파일의 내용이 완전히 삭제되어 악의적으로 복구될 수 없도록 하는 것이다. 본 논문에서는 이동기기의 저장매체로써 주로 사용되는 플래시 메모리에서 어떻게 안전한 삭제를 할 수 있는지에 대하여 연구한다. 이를 위하여 0으로 덮어쓰기와 가비지 컬렉션을 이용하는 두 가지 안전한 파일 삭제 정책을 고려하였으며, 각 정책들이 플래시 메모리 파일 시스템의 성능에 미치는 영향을 분석하였다. 또한 두 가지 정책들의 장점을 취한 적응적인 파일 삭제 기법을 제안한다. 구체적으로 크기가 작은 파일들에 대해서는 0으로 덮어쓰기 기법을, 크기가 큰 파일들에 대해서는 가비지 컬렉션기법을 적용하였다. 그리고 실제 실험 구현 및 결과를 통해 제안된 기법들이 안전하고 효율적으로 파일을 삭제할 수 있음을 보인다.

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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    • 제21권6호
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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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    • 제24권2호
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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.