• Title/Summary/Keyword: Background deletion

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Clinical and Electrophysiological Features of HNPP Patients with 17p11.2 Deletion (염색체 17p11.2 유전자 결손을 동반한 유전성 압박마비 편향 신경병증의 임상적, 전기생리학적 특성)

  • Hong, Yoon-Ho;Kim, Manho;Sung, Jung-Joon;Kim, Sung Hun;Lee, Kwang-Woo
    • Annals of Clinical Neurophysiology
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    • v.4 no.2
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    • pp.125-132
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    • 2002
  • Objectives : Although the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) is important for correct prognostic evaluation and genetic counseling, the diagnosis is frequently missed or delayed. Our main aim on undertaking this study was to characterize the electrodiagnostic features of HNPP. Material and Methods : Clinical, electrophysiologic and molecular studies were performed on Korean HNPP patients with 17p11.2 deletion. The results of electrophysiologic studies were compared with those of Charcot-Marie-Tooth disease type 1A (CMT1A) patients carrying 17p11.2 duplication. Results : Eight HNPP (50 motor, 39 sensory nerves) and six CMT1A (28 motor, 16 sensory nerves) patients were included. The slowing of sensory conduction in nearly all nerves and the distal accentuation of motor conduction abnormalities are the main features of background polyneuropathy in HNPP. In contrast to CMT1A, where severity of nerve conduction slowing was not different among nerve groups, HNPP sensory nerve conduction was more slowed in the median and ulnar nerves than in the sural nerve (p<0.01), and DML was more prolonged in the median nerve than in the other motor nerves (p<0.01). TLIs were significantly lower in HNPP than in the normal control and CMT1A patients for the median and ulnar nerves (p<0.01), and were also significantly reduced for the peroneal nerve (p<0.05) compared with those of the normal controls. Conclusion : The distribution and severity of the background electrophysiologic abnormalities are closely related to the topography of common entrapment or compression sites, which suggests the possible pathogenetic role of subclinical pressure injury at these sites in the development of the distinct background polyneuropathy in HNPP.

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Korean Broadcast News Transcription Using Morpheme-based Recognition Units

  • Kwon, Oh-Wook;Alex Waibel
    • The Journal of the Acoustical Society of Korea
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    • v.21 no.1E
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    • pp.3-11
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    • 2002
  • Broadcast news transcription is one of the hardest tasks in speech recognition because broadcast speech signals have much variability in speech quality, channel and background conditions. We developed a Korean broadcast news speech recognizer. We used a morpheme-based dictionary and a language model to reduce the out-of·vocabulary (OOV) rate. We concatenated the original morpheme pairs of short length or high frequency in order to reduce insertion and deletion errors due to short morphemes. We used a lexicon with multiple pronunciations to reflect inter-morpheme pronunciation variations without severe modification of the search tree. By using the merged morpheme as recognition units, we achieved the OOV rate of 1.7% comparable to European languages with 64k vocabulary. We implemented a hidden Markov model-based recognizer with vocal tract length normalization and online speaker adaptation by maximum likelihood linear regression. Experimental results showed that the recognizer yielded 21.8% morpheme error rate for anchor speech and 31.6% for mostly noisy reporter speech.

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

  • Spruijt, Nicole E.;Kon, Moshe;Molen, Aebele B. Mink Van Der
    • Archives of Plastic Surgery
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    • v.41 no.4
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    • pp.344-349
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    • 2014
  • Background An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance. Methods In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles. Results One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was $136.5^{\circ}$ (standard deviation, $5.3^{\circ}$; range, $122.3-144.8^{\circ}$). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle ($138^{\circ}$ vs. $134^{\circ}$, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412). Conclusions In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

Genetic defects in the nef gene are associated with Korean Red Ginseng intake: monitoring of nef sequence polymorphisms over 20 years

  • Cho, Young-Keol;Kim, Jung-Eun;Woo, Jun-Hee
    • Journal of Ginseng Research
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    • v.41 no.2
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    • pp.144-150
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    • 2017
  • Background: The presence of gross deletions in the human immunodeficiency virus nef gene ($g{\Delta}nef$) is associated with long-term nonprogression of infected patients. Here, we investigated how quickly genetic defects in the nef gene are associated with Korean Red Ginseng (KRG) intakein 10 long-term slow progressors. Methods: This study was divided into three phases over a 20-yr period; baseline, KRG intake alone, and KRG plus highly active antiretroviral therapy (ART). nef gene amplicons were obtained using reverse transcription polymerase chain reaction (PCR) and nested PCR from 10 long-term slow progressors (n = 1,396), and nested PCR from 36 control patients (n = 198), and 28 ART patients (n = 157), and these were then sequenced. The proportion of $g{\Delta}nef$, premature stop codons, and not in-frame insertion or deletion of a nucleotide was compared between three phases, control, and ART patients. Results: The proportion of defective nef genes was significantly higher in on-KRG patients (15.6%) than in baseline (5.7%), control (5.6%), on-KRG plus ART phase (7.8%), and on-ART patients (6.6%; p < 0.01). Small in-frame deletions or insertions were significantly more frequent among patients treated with KRG alone compared with controls (p < 0.01). Significantly fewer instances of genetic defects were detected in samples taken during the KRG plus ART phase (7.8%; p < 0.01). The earliest defects detected were $g{\Delta}nef$ and small in-frame deletions after 7 mo and 67 mo of KRG intake, respectively. Conclusion: KRG treatment might induce genetic defects in the nef gene. This report provides new insight into the importance of genetic defects in the pathogenesis of AIDS.

Design and Implemtation of a Road Congestion Analysis System using Regional Information (영역정보를 이용한 교통 혼잡도 측정 시스템의 설계 및 구현)

  • Choe, Byeong-Geol;Jeong, Seong-Il;An, Cheol-Ung;Kim, Seung-Ho
    • Journal of KIISE:Computing Practices and Letters
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    • v.5 no.6
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    • pp.748-757
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    • 1999
  • 본 논문에서는 차량 영역의 추출을 이용한 효율적인 교통 혼잡도 측정 시스템을 설계하고 구현한다. 차량 영역 정보의 추출은 첫째 영역 분할, 둘째 작은 영역의 제거와 영역의 직사각형화, 셋째 영역의 병합 및 삭제의 단계로 나눌 수 있다. 영역 분할 단계에서는 획득한 도로 영상을 영역 기반 영역 분할에 의해 영역으로 분할한다. 그 다음 영역 분할 후의 영역 정보 중 차량 영역을 추출하는데 영향을 미치지 않는 작은 영역들을 제거하고, 남은 영역들을 직사각형화한다. 마지막으로 차선 별로 남은 영역들을 병합, 삭제함으로써 각 차선마다 차량 영역 정보를 추출할 수 있다. 이러한 방법은 배경 영상과 같은 부가적인 정보를 사용하지 않고 도로 자체 영상만으로 교통 혼잡도를 측정할 수 있으며, 그림자의 영향이 없을 경우 적용할 수 있는 기법이다.Abstract In this paper, we designed and implemented an efficient road congestion analysis system using regional information. To extract vehicle regions from a road image, the system process the image in five steps: segmentation, small region elimination, region rectangularization, region merging and region deletion. First, we segment road image by a threshold value. Then, we eliminate useless small regions to extract vehicle region, and perform region rectangularization. Finally, we extract vehicle region of each lane of the road by region merging and deletion. This method has the advantage of measuring road congestion without additional information such as background images. But this method must be applied to road images without shadow.

Korean Red Ginseng increases defective pol gene in peripheral blood mononuclear cells of HIV-1-infected patients; inhibition of its detection during ginseng-based combination therapy

  • Cho, Young Keol;Kim, Jung-Eun;Woo, Jun-Hee
    • Journal of Ginseng Research
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    • v.43 no.4
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    • pp.684-691
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    • 2019
  • Background: We have reported that defective nef and gag genes are induced in HIV-1-infected patients treated with Korean Red Ginseng (KRG). Methods: To investigate whether KRG treatment and highly active antiretroviral therapy (HAART) affect genetic defects in the pol gene, we amplified and sequenced a partial pol gene (p-pol) containing the integrase portion (1.2 kb) by nested PCR with sequential peripheral blood mononuclear cells over 20 years and compared it with those patients at baseline, in control patients, those taking ginseng-based combination therapy (GCT; KRG plus combinational antiretroviral therapy) and HAART alone. We also compared our findings to look for the full-length pol gene (pol) (3.0-kb) Results: Twenty-patients infected with subtype B were treated with KRG for $116{\pm}58months$ in the absence of HAART. Internal deletion in the pol gene (${\Delta}pol$) was significantly higher in the KRG group (11.9%) than in the control group and at baseline; its detection was significantly inhibited during GCT as much as during HAART. In addition, the ${\Delta}pol$ in p-pol significantly depended on the duration of KRG treatment. In pol, the proportion of ${\Delta}pol$ was significantly higher in the KRG group (38.7%) than in the control group, and it was significantly inhibited during GCT and HAART. In contrast, the proportion of stop codon appeared not to be affected by KRG treatment. The PCR success rate was significantly decreased with longer GCT. Conclusion: The proportion of ${\Delta}pol$ depends on template size as well as KRG treatment. HAART decreases the detection of ${\Delta}pol$.

A Study on the Neo-Classicism Expressed in Contemporary Fashion Design (현대복식에 표현된 신고전주의 특성에 관한 연구)

  • 추미경;김순자
    • Journal of the Korean Society of Costume
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    • v.40
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    • pp.121-135
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    • 1998
  • The purpose of this thesis is to study the social and cultural background and characteristic of neo-classicism which appered in the modern fashion of the pluralistic society of the latter half of 20th century to understand that the product of societh such as fashion mode reflects the situation of society and culture. For this purpose, documentary studies about the concept and background of neo-classicism, were preceded, and analyzed the occurrence background and characteristic of neo-classicism of the modern fashion after the 1980's, which showed up in post-modernism fashion. The characteristics of neo-classicism expressed in modern fashion is as follows; First, they are expressed in modern fashion in forms of simplicity by means of minimizing process of sewing or ornamenting and deletion of dart. Second, retro-style in terms of concerning of the past, is featured in various styles of Greco-roman drapery and expresed in forms of mixing clothing elements of modern and classic in modern times. Third, the trend of ecology in terms of interest of the nature and the thought that the spiritual world is more important than the material world. It is expressed by using natural elements adn natural materials, which wanted to get the nature and human into one and search for the losed nature of modern men. Fourth, the pursuit of the beauty of the human body, is expressed in forms of body-prioity style through using see-through or elastic materials, which is knit, lycra, spandex, etc. In conclusion, we can recognize that the social product reflects social and cultural situation. And the characteristic of neo-classicism has the meaning of harmonizing the human and nature and the returing the humanity.

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Analysis of Small Fragment Deletions of the APC gene in Chinese Patients with Familial Adenomatous Polyposis, a Precancerous Condition

  • Chen, Qing-Wei;Zhang, Xiao-Mei;Zhou, Jian-Nong;Zhou, Xin;Ma, Guo-Jian;Zhu, Ming;Zhang, Yuan-Ying;Yu, Jun;Feng, Ji-Feng;Chen, Sen-Qing
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.12
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    • pp.4915-4920
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    • 2015
  • Background: : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC germline mutations has great implications for genetic counseling and management of FAP patients. In this study, we screened APC germline mutations in Chinese FAP patients, in order to find novel mutations and the APC gene germline mutation characteristics of Chinese FAP patients. Materials and Methods: The FAP patients were diagnosed by clinical manifestations, family histories, endoscope and biopsy. Then patients peripheral blood samples were collected, afterwards, genomic DNA was extracted. The mutation analysis of the APC gene was conducted by direct polymerase chain reaction (PCR) sequencing for micromutations and multiplex ligation-dependent probe amplification (MLPA) for large duplications and/or deletions. Results: We found 6 micromutations out of 14 FAP pedigrees, while there were no large duplications and/or deletions found. These germline mutations are c.5432C>T(p. Ser1811Leu), two c.3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3', 3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. Conclusions: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene,.

Genetic Regulation of Cellular Responses and Signal Targeting Pathways Invoked by an Environmental Stress (환경 스트레스에 의한 세포 내 신호의 이동 경로와 유전적 조절)

  • Kim, Il-Sup;Kim, Hyun-Young;Kang, Hong-Gyu;Yoon, Ho-Sung
    • Korean Journal of Environmental Biology
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    • v.26 no.4
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    • pp.377-384
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    • 2008
  • A cell is the product of a long period of evolution and can be represented as an optimized system (homeostasis). Stimuli from the outside environment are received by sensory apparatus on the surface of the cell and transferred through complicated pathways and eventually regulate gene expression. These signals affect cell physiology, growth, and development, and the interaction among genes in the signal transduction pathway is a critical part of the regulation. In this study, the interactions of deletion mutants and overexpression of the extracopies of the genes were used to understand their relationships to each other. Also, green fluorescent protein (GFP reporter gene) was fused to the regulatory genes to elucidate their interactions. Cooverexpression of the two genes in extracopy plasmids suggested that patS acts at the downstream of hetR in the regulatory network. The experiments using gfp fusion in different genetic background cells also indicated the epistasis relationships between the two genes. A model describing the regulatory network that controls cell development is presented.

Allele-Specific Phenotype Suggests a Possible Stimulatory Activity of RCAN-1 on Calcineurin in Caenorhabditis elegans

  • Li, Weixun;Choi, Tae-Woo;Ahnn, Joohong;Lee, Sun-Kyung
    • Molecules and Cells
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    • v.39 no.11
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    • pp.827-833
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    • 2016
  • Regulator of calcineurin 1 (RCAN1) binds to calcineurin through the PxIxIT motif, which is evolutionarily conserved. SP repeat phosphorylation in RCAN1 is required for its complete function. The specific interaction between RCAN1 and calcineurin is critical for calcium/calmodulin-dependent regulation of calcineurin serine/threonine phosphatase activity. In this study, we investigated two available deletion rcan-1 mutants in Caenorhabditis elegans, which proceed differently for transcription and translation. We found that rcan-1 may be required for calcineurin activity and possess calcineurin-independent function in body growth and egg-laying behavior. In the genetic background of enhanced calcineurin activity, the rcan-1 mutant expressing a truncated RCAN-1 which retains the calcineurin-binding PxIxIT motif but misses SP repeats stimulated growth, while rcan-1 lack mutant resulted in hyperactive egg-laying suppression. These data suggest rcan-1 has unknown functions independent of calcineurin, and may be a stimulatory calcineurin regulator under certain circumstances.