• Title/Summary/Keyword: case deletion

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건설 프로젝트 공정표 생성을 위한 사례기반 전문가시스템의 설계

  • 김현우;이경전;이재규
    • Proceedings of the Korean Operations and Management Science Society Conference
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    • 1996.04a
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    • pp.709-712
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    • 1996
  • Generating a project network of a specific construction project is very time consuming and difficult task in the field. To effectiviely automate and support the planning process, we design a case-based project planning expert system inspired by the fact a human expert project planner uses previous cases for planning a new project. A construction project case consist of its specific characteristics and the corresponding project network (i.e. project plan). Using frame based representation. we represent the project features affecting the progress network and the entities composing the project plan such as the buildings, construction methods, WBS (work breakdown structure), activities, and resources. The project planning process runs through most similar case retrieval, case adaptation, and user requirement satisfaction. We represent the construction domain knowledge for each procedure using constraints and rules. We develop the methodology for constraint-based case adaption. Case adaptation process mainly consist of activity generation/deletion and predecence constraint satisfaction, for which we develop the dynamic constraint generation method and connect user-level requirement representation the system-level network modification knowledge. The methodology is being applied to the prototype for apartment construction project planning.

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The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome (한국인 묘성증후군 20명 환자에서의 5p 결실 양상 분석)

  • Park, Sang-Jin;Kim, Sook-Ryung;Baek, Kum-Nyeo;Yoon, Joon-No;Jeong, Eun-Jeong;Kown, Ji-Eun;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.133-141
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    • 2007
  • Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

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Analysis of Human O-GlcNAcase Gene and the Expression of the Recombinant Gene. (사람의 O-linked N-acetyl-$\beta$-D-glucosaminidase 유전자의 분석과 재조합 발현)

  • 강대욱;서현효
    • Korean Journal of Microbiology
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    • v.40 no.2
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    • pp.87-93
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    • 2004
  • Dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) on Ser and Thr residues is ubiquitous in higher eukaryotes. And this modification may serve as a signaling mod-ification analogous to protein phosphorylation. Addition and cleavage of O-GlcNAc are catalyzed by O-linked GlcNAc transferase (OGT) and O-linked N-acety1glucosaminidase (O-GlcNAcase), respectively. Two types of human O-GlcNAcase gene were cloned and expressed as three fusion proteins in Escherichia coli. O-GlcNA-case activity showed in the order of thioredoxin fusion> $6{\times}His$ tag> GST fusion. O-GlcNAcase had enzy-matic activity against only ${\rho}$NP-GlcNAc of seven tested substrate analogs. Blast search revealed that O-GlcNAcase has two conserved domains, amino terminal hyaluronidase-like domain and carboxy terminal N-acetyltransferase domain. Extensive deletion studies were done to define catalytically important domains. The deletions of hyaluronidase-like domain and N-acetyltransferase domain abolished enzyme activity. But, N-ter-minal 55 amino acid deletion and C-terminal truncation showed lower activity. Based on deletion analysis, we suggest that hyaluronidase-like domain is essential for enzyme activity and carboxy terminal N-acetyltrans-ferase domain may be modulatory function.

Direct Deletion Analysis in Two Duchenne Muscular Dystrophy Symptomatic Females Using Polymorphic Dinucleotide (CA)n Loci within the Dystrophin Gene

  • Giliberto, Florencia;Ferreiro, Veronica;Dalamon, Viviana;Surace, Ezequiel;Cotignola, Javier;Esperante, Sebastian;Borelina, Daniel;Baranzini, Sergio;Szijan, Irene
    • BMB Reports
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    • v.36 no.2
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    • pp.179-184
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    • 2003
  • Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease. It is inherited manifestations. In some rare cases, the disease can also be manifested in females. The aim of the present study was to determine the molecular alteration in two cases of nonrelated DMD symptomatic carriers with no previous history of DMD. Multiplex PCR is commonly used to search for deletion in the DMD gene of affected males. This method could not be used in females because the normal X chromosome masks the deletion of the mutated one. Therefor, we used a set of seven highly polymorphic dinucleotide $(CA)_n$ repeat markers that lie within the human dystrophin gene. The deletions were evidenced by hemizygosity of the loci under study. We localized a deletion in the locus 7A (intron 7) on the maternal X chromosome in one case, and a deletion in the region of introns 49 and 50 on the paternal X chromosome in the other. The use of microsatellite genotyping within the DMD gene enables the detection of the mutant allele in female carriers. It is also a useful method to provide DMD families with more accurate genetic counseling.

C3 Glomerulonephritis associated with Anti-complement Factor H Autoantibodies in an Adolescent Male: A Case Report

  • Hyun, HyeSun;Kang, Hee Gyung;Cho, UiJu;Ha, Il-Soo;Cheong, Hae Il
    • Childhood Kidney Diseases
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    • v.25 no.1
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    • pp.29-34
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    • 2021
  • C3 glomerulonephritis (C3GN), a rare condition associated with dysregulation of the alternative pathway of the complement system, is histopathologically characterized by isolated or dominant C3 deposition in the renal glomeruli. We report a case of C3GN associated with anti-complement factor H (CFH) autoantibodies and CHF-related protein deficiency in an adolescent male. A 16-year-old adolescent male was admitted to a hospital with a 1-month history of generalized edema prior to presentation. Persistent microscopic hematuria and low serum C3 levels were incidentally detected at 7 and 10 years of age, respectively. Laboratory test results revealed hypoalbuminemia, nephrotic-range proteinuria, microscopic hematuria, and normal serum creatinine levels. The serum C3 and C4 levels were 17 mg/dL (normal 80-150 mg/dL) and 22 mg/mL (17-40 mg/mL), respectively. Renal biopsy showed typical features of C3GN. Further investigations revealed positive results on plasma anti-CFH autoantibody testing and a homozygous deletion of CFHR1 and CFHR3, which encode CFH-related proteins 1 and 3, respectively. Proteinuria persisted despite treatment with intravenous methylprednisolone, mycophenolate mofetil, and angiotensin-receptor blocker; however, his renal function remained stable. In conclusion, anti-CFH autoantibodies serve as important contributors to C3GN. This is the first case report that describes C3GN in an adolescent Korean male with anti-CFH autoantibodies and homozygous CFHR1 and CFHR3 deletion.

A Study on the Structures for Efficient Event Queues (효율적인 이벤트 큐의 구조에 관한 연구)

  • 김상욱
    • Journal of the Korea Society for Simulation
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    • v.4 no.2
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    • pp.61-68
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    • 1995
  • The performance of event-driven logic simulation frequently used for VLSI design verification depends on the data structures for event queues. This paper improves the existing Timing Wheel as a data structure for an event queue. In case of the use of B+ tree, an efficient node degree is also presented based on the experiment results. A new Timing Wheel index structure, which eliminates the insertion and deletion overhead of B+ tree, is proposed and analyzed.

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A Study on Cellular Communication with Frequency Hopping Technique (주파수 도약 기술을 이용한 셀루라 통신에 관한 연구)

  • 진봉철;박상규;한영열
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.16 no.6
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    • pp.517-532
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    • 1991
  • This paper shows performance analysis for FH/MF나 systems over the cellular mobile communication channel. The Channel capacity over FH/MF나 system is represented as a function of deletion probalblity (Po) and insertion probalbility(Pt). The spectral efficiency of the system serves as a per formance of cellular system is inferior to that of non cellular system. In the case of frequency reuse, we get the best performance when the reuse pattern(N) is 3.

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A Case of a del(8p)/dup(8q) Recombinant Chromosome (8번 염색체 단완 결실과 장완 중복을 동반한 신생아 1례)

  • Kim, Jeong-Young;Im, Hyo-Bin;Son, Sang-Hee;Jeong, So-Young;Sung, Min-Jung;Seo, Son-Sang
    • Neonatal Medicine
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    • v.16 no.1
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    • pp.76-80
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    • 2009
  • A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.n Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1 -->qter. Because Sp21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.

Analysis of Phonological Reduction in Conversational Japanese (현대일본어의 회화문에 나타난 축약형의 음운론적 분석)

  • Choi Young-sook;Sato Shigeru;Pahk Hy-tay
    • Proceedings of the KSPS conference
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    • 1996.10a
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    • pp.198-206
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    • 1996
  • Using eighteen text materials from various goners of present-day Japanese, we collected phonologically reduced forms frequently observed in conversational Japanese, and classified them in search of unified explanation of phonological reduction phenomena. We found 7,516 cases of reduced forms which we divided into 43 categories according to the types of phonological changes they have undergone. The general tendencies ale that deletion and fusion of a phoneme or an entire syllable takes place frequently, resulting in the decrease in the number of syllable. Typical examples frequently observed throughout the materials are : $~/noda/{\rightarrow}~/nda/,{\;}-/teiru/{\rightarrow}~/teru/,{\;}~/dewa/{\rightarrow}~/zja/,{\;}~/tesimau/{\rightarrow}~/cjau/$. From morphosyntactic point of view phonological reduction often occurs at the NP and VP morpheme boundaries. The following findings are drawn from phonological observations of reduction. (1) Vowels are more easily deleted than consonants. (2) Bilabials(/m/, /b/, and /w/ are the most likely candidates for deletion. (3) In a concatenation of vowels, closed vowels are absorbed into open vowels, or two adjacent vowels come to create another vowel, in which case reconstruction of the original sequence is not always predictable. (4) Alveolars are palatalized under the influence of front vowels. (5) Regressive assimilation takes place in a syllable starting with ill, changing the entire syllable into phonological choked sound or a syllabic nasal, depending on the voicing of following phoneme.

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Acoustical Analysis of Phonological Reduction in Conversational Japanese (일본어 회화문에 나타난 축약형의 음운론적 해석과 음향음성학적 분석)

  • Choi, Young-Sook
    • Speech Sciences
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    • v.8 no.4
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    • pp.229-241
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    • 2001
  • Using eighteen texts from various genera of present-day Japanese, I collected phonologically reduced forms frequently observed in conversational Japanese, and classified them in search of a unified. explanation of phonological phenomena. I found 7,516 cases of reduced forms which I divided into 43 categories according to the types of phonological changes they have undergone. The general tendencies are that deletion and fusion of a phoneme or an entire syllable takes place frequently, resulting in the decrease in the number of syllables. From a morphosyntactic point of view, phonological reduction often occurs at the NP and VP morpheme boundaries. The following findings are drawn from phonetical observations of reduction. (1) Vowels are more easily deleted than consonants. (2) Bilabials ([m], [b], and [w]) are the most likely candidates for deletion. (3) In a concatenation of vowels, closed vowels are absorbed into open vowels, or two adjacent vowels come to create another vowel, in which case reconstruction of the original sequence is not always predictable. (4) Alveolars are palatalized under the influence of front vowels. (5) Regressive assimilation takes place in a syllable starting with [r], changing the entire syllable into a phonological choked sound or a syllabic nasal, depending on the voicing of the following phoneme.

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