• 제목/요약/키워드: variant

검색결과 1,941건 처리시간 0.024초

Importance of family segregation in the American College of Medical Genetics and Genomics and Association of Molecular Pathology guidelines: Case of a Korean family with autosomal dominant polycystic disease

  • Kwon, Won Kyung;Kim, Suhee;Jang, Ja-Hyun;Kim, Jong-Won
    • Journal of Genetic Medicine
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    • 제17권1호
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    • pp.51-54
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    • 2020
  • Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants have only limited evidence along 28 interpretation standards, especially de novo variants. When de novo variants, which are classified as variants of uncertain significance (VUS) due to lack of evidence, are detected, segregation in the affected family could provide an important key to clarifying the variants. Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder with pathogenic variants in the PKD1 or PKD2 genes. We detected a novel in-frame deletion variant in the PKD1 gene, c.7575_7577del (p.(Cys2526del)), which was interpreted as a VUS. We analyzed this variant in a Korean family to decide for segregation. Here, we report the variant as a likely pathogenic variant based on the evidence of segregation in three affected relatives and two unaffected members.

갑상선 유두암 원주세포변형 1예 (A Case of Columnar Cell Variant of Papillary Thyroid Carcinoma)

  • 최시홍;이동후;정수진;김도훈
    • 임상이비인후과
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    • 제29권2호
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    • pp.281-285
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    • 2018
  • Columnar cell variant of papillary thyroid carcinoma (CCV-PTC) is a rare variant representing 0.15-0.2% of all PTCs. The CCV is aggressive, due to its rapid growth, high local recurrence rate, and frequent lung, brain and bone metastasis. Aggressive surgical and medical management are recommended for these neoplasias. The authors experienced a case of CCV-PTC in a 45-year-old man. We performed total thyroidectomy with neck dissection. The patient received radiation and radioactive iodine therapy. There were no recurrences or complications in the following 24 months after the operation. The patient will closely undergo continuous follow up. We present the clinical characteristics, pathology, treatment, and prognosis of the tumor with a review of the literature.

병원 전 12-Lead ECG 측정을 통해 진단된 이형성 협심증 1례 (Variant angina diagnosed on pre-hospital 12-lead electrocardiogram: A case report)

  • 김지원;기은영
    • 한국응급구조학회지
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    • 제25권1호
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    • pp.243-249
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    • 2021
  • A decrease in coronary blood flow leads to an imbalance between the supply of oxygen to the myocardium and its demand, and reversible or irreversible damage to the myocardium could occur depending on the severity of the resultant ischemia and the duration of the imbalance. This imbalance results in a cascade of ischemic reactions in the following order: metabolic abnormalities, diastolic dysfunction, systolic dysfunction, and electrocardiogram changes. Variant angina is caused by the closure of the coronary artery due to reversible coronary artery spasm, resulting in myocardial ischemia and subsequent chest pain as a clinical symptom. Variant angina may be observed as ST segment elevation in electrocardiogram measured when present in chest pain. However, 12-lead electrocardiogram performed after the patient's chest pain resolves does not help in the diagnosis. Since the duration of chest pain appears to be <15 minutes, it is important to perform the 12-lead electrocardiogram when clinical symptoms are present. If nitroglycerin is administered without performing 12-lead electrocardiogram by 119 pre-hospital paramedics, the chest pain would be resolved, making it impossible to identify changes in the ST segment. Before administration of nitroglycerin, changes in the ST segment must be recorded by performing 12-lead electrocardiogram.

한국대두에서의 Trypsin Inhibitor Variant의 분포와 유전 (Distribution and Inheritance of Trypsin Inhibitor Variant in Soybeans Grown in Korea)

  • 최종열;장병호
    • 한국작물학회지
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    • 제26권1호
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    • pp.51-55
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    • 1981
  • 한국에서 재배되고 있는 대두에서의 trypsin inhibitor variant의 분포를 조사하기 위하여 51 품종의 종실 단백질을 disc electrophoresis에 의하여 분리했다. 9품종이 Rf 0.79 band를, 그리고 42품종이 Rf 0.83 band를 갖고 있었으며, Rf 0.79의 분리비율은 17.6% 이었다. 금강대입(Rf 0.79 band)과 의두(Rf 0.83band)의 F_1은 Rf 0.79 band와 Rf 0.83 band를 모두 갖고 있었으며, F_2에서의 Rf 0.79:Rf 079/Rf 0.83:Rf 083의 분리는 22:53:21로서 이들 soybean trypsin inhibitor variant가 1쌍의 codominant alleles에 의하여 지배됨을 나타냈다.

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Multi-Variant Execution Environment 연구 동향 (A Study on Multi-Variant Execution Environment)

  • 조명현;장지원;남기빈;황동일;백윤흥
    • 한국정보처리학회:학술대회논문집
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    • 한국정보처리학회 2020년도 춘계학술발표대회
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    • pp.275-278
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    • 2020
  • C 와 C++은 비교적 자유로운 코딩 환경으로 많은 프로그래머들에게 사랑받는 프로그래밍 언어이다. 또한, 빠른 속도와 호환성 덕분에 현재 많은 IOT, 임베디드 시스템에 적용되고 있다. C 와 C++은 자유로운 환경을 가지고 있는 반면에 프로그래머의 부주의한 코딩 방식에 의해 여러 취약점을 발생시켜 공격 범위를 증가시킬 수 있다. 다음은 외부 침입자에게 공격에 필요한 좋은 소스를 제공할 수 있으므로 이러한 공격을 막기 위한 범용적인 기술이 필요하다. 본 연구에서는 다음 취약점에 대한 공격을 막을 수 있는 기술 중 하나인 Multi-Variant Execution Environment(MVEE) 기술을 소개하고 다음 기술의 핵심인 다양한 Variant 생성 방식과 기존 연구 분석을 통해 한계점을 고찰하고자 한다.

최대우도를 부가한 주파수 변이 PMC 방법의 잡음 음성 인식 성능개선 (Recognition Performance Improvement for Noisy-speech by Parallel Model Compensation Adaptation Using Frequency-variant added with ML)

  • 최숙남;정현열
    • 한국멀티미디어학회논문지
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    • 제16권8호
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    • pp.905-913
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    • 2013
  • 잡음에 강건한 음성 인식을 위한 주파수 변이를 이용한 PMC( Parallel Model Compensation Using Frequency-variant, FV-PMC) 방법은 인식시 입력음성에 혼입이 예상되는 잡음들을 평균 주파수 변이도를 임계치로 하여 몇 가지 잡음 군으로 분류한 후 각 잡음 군 별로 인식을 수행하는 방법이다. 이 방법은 기준 임계치를 이용하여 양호하게 분류된 잡음 음성들에 대해서는 매우 우수한 성능을 보이나, 미 분류된 잡음 음성들에 대해서는 기존의 PMC 방법에서와 같이 무잡음 모델과 결합하여 음성 인식을 수행함으로 인해 평균 음성 인식률이 낮아지는 문제점이 있다. 이러한 문제점을 해결하기 위하여 본 논문에서는 기존의 방법에서 사용하였던 평균주파수 임계치 방법 대신에 최대 우도를 부가하여 미분류를 방지함으로써 입력 잡음음성에 포함되는 잡음의 군별 잡음 분류 율을 높여 인식률을 제고하는 개선된 주파수 변이 PMC 인식방법을 제안하였다. Aurora 2.0 데이터베이스를 이용한 인식실험결과, 기존의 FV-PMC 방법에 비해 향상된 결과를 확인할 수 있었다.

Identification of strain harboring both aac(6')-Ib and aac(6')-Ib-cr variant simultaneously in Escherichia coli and Klebsiella pneumoniae

  • Kim, Yun-Tae;Jang, Ji-Hyun;Kim, Hyun-Chul;Kim, Hyo-Gyeong;Lee, Kyoung-Ryul;Park, Kyung-Sun;Lee, Hee-Joo;Kim, Young-Jin
    • BMB Reports
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    • 제44권4호
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    • pp.262-266
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    • 2011
  • The aac(6')-Ib gene is the most prevalent gene that encodes aminoglycoside-modifying enzymes and confers resistance to tobramycin, kanamycin, and amikacin. The aac(6')-Ib-cr variant gene can induce resistance against aminoglycoside and fluoroquinolone simultaneously. Two main methods, sequence analysis and the restriction enzyme method, can detect the aac(6')-Ib-cr variant in clinical strains. We collected the 85 strains that were believed to be aac(6')-Ib positive from clinical isolates. Among them, 38 strains were the wild-type; the remaining 47 strains were the aac(6')-Ib-cr variant. Of these 47 strains, 19 simultaneously harbored aac(6')-Ib and aac(6')-Ib-cr. Our study aims to report the characteristics of the 19 strains that simultaneously harbored both genes. This study is the first investigation published in Korea of strains that included both aac(6')-Ib and aac(6')-Ib-cr variant.

메타 검색에서 외래어 질의 정제 효과 (The Refinement Effect of Foreign Word Transliteration Query on Meta Search)

  • 이재성
    • 정보처리학회논문지B
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    • 제15B권2호
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    • pp.171-178
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    • 2008
  • 문서에서 외래어가 일관되게 사용되지 않고 여러 이형태로 사용되고 있기 때문에, 정확한 질의어 일치를 지원하는 검색 시스템에서 외래어 질의로 문서를 검색하는데 어려움이 많다. 본 논문에서는 하나의 외래어로 질의할 경우, 원 질의어와 같은 뜻의 다양한 이형태 외래어 질의로 자동 확장하고 정제하여 더 많은 관련 문서를 손쉽게 검색할 수 있는 메타 검색 방법을 제안한다. 이 방법은 1차로 원 질의어에서 다양한 외래어 이형태를 통계적 방법으로 확장하고, 2차로 그 결과를 각 검색 엔진에게 질의하여 일정 개수 이상의 질의어가 문서에 나타났는지, 원 질의어의 문맥과 유사한 문맥에서 그 질의어가 쓰였는지를 비교하여, 같은 뜻의 유효한 외래어를 판별해 내고 이를 이용하여 검색할 수 있도록 한다. 실험 결과, 기준점으로 쓰인 1차로 만든 이형태로 검색했을 때 F값은 평균 38%이었으나, 제안된 방법인 2차로 정제된 질의어로 검색했을 때의 F값은 평균 81%로 매우 향상된 결과를 보였다.

The Relationship between Milk Protein Phenotypes and Lactation Traits in Brown Swiss and Canadienne

  • Kim, S.;Ng-Kwai-Hang, K.F.;Hayes, J.F.
    • Asian-Australasian Journal of Animal Sciences
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    • 제11권3호
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    • pp.311-317
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    • 1998
  • A total of 1033 Brown Swiss and 610 Canadienne cows were phenotyped for the genetic variants ${\alpha}_{s1}$-casein, ${\beta}$-casein, ${\kappa}$-casein, ${\beta}$-lactoglobulin and ${\alpha}$-lactalbumin. In Brown Swiss, frequency distributions were: 97.3% B and 2.7% C variant of ${\alpha}_{s1}$-casein; 31.6% $A^1$, 51.8% $A^2$, 0.5% $A^3$ and 16.1% B variant of ${\beta}$-casein; 70.4% A, 29.3% B, and 0.3% C variant of ${\kappa}$-casein; 41.7% A and 58.3% B variant of ${\beta}$-lactoglobulin; and 100% B variant of ${\alpha}$-lactalbumin. Corresponding frequencies in Canadienne for those five milk proteins were: 98.6 and 1.4%;58.5, 33.5, 0.08 and 7.9%; 78.8, 21.1 and 0.1%, 42.4 and 57.6%; and 100%. Analysis of variance by least squares showed possible association between milk protein phenotypes and some lactational production traits. There were no significant association of phenotypes of ${\alpha}_{s1}$-casein, ${\beta}$-casein and ${\beta}$-lactoglobulin with milk yield, fat yield, protein yield, fat percentage and protein percentage in both breeds during the three lactations. In the Brown Swiss, ${\kappa}$-casein phenotype was associated with 305-day fat yield and protein yield during the first lactation. ${\kappa}$-Casein AB was associated with higher milk, fat and protein yield during the second lactation. During the third lactation, ${\beta}$-lactoglobulin AA in Canadienne cows was associated with higher protein content in the milk (3.70%) when compared to phenotypes AB (3.54%) and BB (3.64%).

MILK PROTEIN POLYMORPHISMS AS GENETIC MARKER IN KOREAN NATIVE CATTLE

  • Chung, E.R.;Han, S.K.;Rhim, T.J.
    • Asian-Australasian Journal of Animal Sciences
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    • 제8권2호
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    • pp.187-194
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    • 1995
  • Genetic variants of ${\alpha}s_1$-casein, ${\beta}$-casein, ${\kappa}$-casein and ${\beta}$-lactoglobulin were investigated by starch urea gel electrophoresis in milk samples of 280 Korean native cattle. A new ${\beta}$-casein variant, designated ${\beta}$-casein $A^4$, was found in milk samples of Korean native cattle. It has a much slower electrophoretic mobility than the ${\beta}$-casein $A^3$ variant in acid gel. This new variant appeared together with either ${\beta}$-casein $A^1$, $A^2$ or B variant. Gene frequencies and genotypic frequencies were estimated. Gene frequencies of four milk protein loci in Korean native cattle were compared with those of imported cattle breeds raised in Korea and Japanese brown cattle. Gene frequencies were ${\alpha}s_1$-casein B .846, ${\alpha}s_1$-casein C .154; ${\beta}$-casein $A^1$ .216, ${\beta}$-casein $A^2$ .666, ${\beta}$-casein $A^4$ .048, ${\beta}$-casein B .070; ${\kappa}$-casein A .648, ${\kappa}$-casein B .352; ${\beta}$-lactoglobulin A .148, ${\beta}$-lactoglobulin B .852. The population was in Hardy-Weinberg equilibrium at all milk protein loci. Gene frequencies of Korean native cattle were very similar to those of Japanese brown cattle. Interestingly, a new variant, ${\beta}$-casein $A^4$, was found only in Korean native cattle and Japanese brown cattle. These results support the hypothesis that Korean native cattle were used in the development of the Japanese brown cattle.