• 제목/요약/키워드: common variant

검색결과 171건 처리시간 0.026초

A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)

  • Song, Seung-Hun;Won, Hyung Jae;Yoon, Tae Ki;Cha, Dong Hyun;Shim, Jeong Yun;Shim, Sung Han
    • Clinical and Experimental Reproductive Medicine
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    • 제40권4호
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    • pp.174-176
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    • 2013
  • Klinefelter syndrome is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. It is characterized by infertility, small testes, sparse body and facial hair, increased body weight, gynecomastia, increased LH and FSH, and a low level of testosterone. Early recognition and treatment of Klinefelter syndrome can significantly improve the patient's quality of life and prevent serious consequences. Here, we report an infertile man with a rare variant of Klinefelter syndrome with a 47, XY, i(X)(q10) karyotype.

Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene

  • Kim, Hye Weon;Kim, Hyunjin;Jeong, Dongyoung;Chung, Kyuyoon;Lee, Eun-Jae;Lim, Young-Min;Kim, Kwang-Kuk
    • Annals of Clinical Neurophysiology
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    • 제23권1호
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    • pp.61-64
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    • 2021
  • Adrenoleukodystrophy (ALD) is the most common peroxisomal disorder caused by mutations in the gene, ABCD1, causing abnormal accumulation of very-long-chain fatty acids in the nervous system and adrenal glands. There are various clinical manifestations of ALD. Here we report a 47-year-old male with adrenomyeloneuropathy with cerebral involvement who exhibited progressive gait disturbance and cognitive impairment. A novel frameshift variant (c.95del [p.Val32Alafs*36]) in exon 1 of ABCD1 was identified. This report provides additional information regarding the various clinical characteristics of ALD.

High Prevalence of the China 1 Strain of Epstein-Barr Virus in Korea as Determined by Sequence Polymorphisms in the Carboxy-Terminal Tail of LMP1

  • Cho, Sung-Gyu;Lee, Won-Keun
    • Journal of Microbiology
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    • 제41권2호
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    • pp.129-136
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    • 2003
  • The Epstein-Barr virus (EBV)-encoded latent membrane protein 1 (LMPI) exhibits considerable sequence heterogeneity among EBV isolates. Seven distinct EBV strains have been defined based on sequence polymorphisms in the LMPI gene, which are designated China 1, China 2, China 3, Alaskan, Mediterranean, NC, and the B95-8 strains. In this study, we analyzed a 30-bp deletion and sequence variations in the carboxy-terminal region of the LMPl gene in 12 EBV isolates from spontaneous lym-phoblastoid cell lines derived from individuals with non-EBV associated cancers in Korea. Eleven of the 12 isolates showed a 30-bp deletion spanning LMPI amino acids 342 to 353, suggesting a high prevalence of the LMPI 30-bp deletion variant among EBV isolates in Korea. In addition, all 12 isolates had a 15-bp common deletion in the 33-bp repeat region and multiple base-pair changes relative to the prototype B95-8 EBV strain along with variations in the number of the 33-bp repeats. The bp changes at positions 168746, 168694, 168687, 168395, 168357, 168355, 168631, 168320, 168308, 168295, and 168225 were highly conserved among the isolates. Comparative analysis of sequence change patterns in the LMPI carboxy-terminal coding region identified nine 30-bp deletion variants as China 1, two deletion variants as a possible interstrain between the Alaskan and China 1 strains, and a single undeleted variant as a possible variant of the Alaskan strain. These results suggest the predominance of the China 1 EBV strain in the Korean population.

Common Hepatic Artery Originating from Left Gastric Artery: A Rare Variant Encountered in Gastric Cancer Surgery

  • Choi, Chang In;Jeon, Tae Yong
    • 고신대학교 의과대학 학술지
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    • 제33권3호
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    • pp.463-467
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    • 2018
  • The hepatic artery can have numerous variations. However, a common hepatic artery originating from the left gastric artery and the entire hepatic blood supply furnished by the left gastric artery is an extremely rare anomaly. We encountered this anomaly in a patient with advanced gastric cancer. A surgeon should recognize this image appearance and identify the anomaly. Without knowledge of this anomaly and given the strategy for extensive lesser sac dissection generally employed during gastric cancer surgery, a surgeon could easily inadvertently divide this vessel, resulting in critical liver damage. We report a case of common hepatic artery originating from left gastric artery and review of the literatures.

주파수 변이를 이용한 Parallel Model Combination 모델 적응에 기반한 잡음에 강한 음성인식 (Noise Robust Speech Recognition Based on Parallel Model Combination Adaptation Using Frequency-Variant)

  • 최숙남;정현열
    • 한국음향학회지
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    • 제32권3호
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    • pp.252-261
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    • 2013
  • 일반적인 음성인식 시스템은 조용한 인식 환경에서는 높은 인식성능을 나타내지만 잡음이 존재하는 실제 환경에서는 그 성능이 급격히 저하한다. 본 논문에서는 다양한 잡음환경에서도 강인한 음성인식기를 구현하기 위하여, 주파수의 변이도를 이용하여 음성인식을 위한 환경 정보를 얻고 이를 음성 인식을 위한 모델 개선에 적용하여 성능향상을 도모하는 환경정보 지식에 기반한 주파수 변이 적응 PMC (Parallel Model Combination adaptation using frequency-variant based on environment - awareness : FV-PMC) 방법을 제안한다. 이 방법은 미리 분류된 각 잡음 군간의 평균 주파수 변이도를 미리 계산하여 임계치로 설정하고 미지의 잡음이 포함된 음성이 입력되면 각 잡음 군과의 주파수 변이도를 다시 계산하여 해당 잡음군의 임계치 보다 높을 경우 그 잡음 군의 잡음이 포함된 음성으로 간주하여 이 잡음 군이 포함된 음성을 이용하여 생성된 인식모델을 이용하여 음성인식을 수행한다. 제안한 FV-PMC 방법을 이용하여 잡음을 분류 하였을 경우 평균 분류 정확도는 56%를 보였고 이를 이용해 음성인식 실험을 실시한 결과 Set A의 평균인식률은 79.05%, Set B의 평균인식률은 79.43%, Set C의 평균인식률은 83.37%로 나타났다. 전체 평균인식률 80.62%로 기존의 깨끗한 모델을 이용한 PMC 인식률 74.93% 보다 5.69% 향상된 결과를 보여 제안한 방법의 유효성을 확인할 수 있었다.

학교급식 공동관리 영양사의 직무분석 - 경북지역을 중심으로 - (A Job Analysis in Common Managemant Dietitian of School Foodservice - Centering around Kyoung sang buk - do -)

  • 권영숙
    • 대한영양사협회학술지
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    • 제5권2호
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    • pp.182-193
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    • 1999
  • The purpose of this research is to analysis the general job of 76 dietitian on common management of school food service in Kyoung-buk area. In this research we asked them some general aspects, and made use of three variants(job performing time, the degree of major recognition, and the degree of difficulty) each question after classifying their jobs into 13 standard jobs. Statistical data analysis was completed using SPSS package program. The results of this survey showed the following : 1. The types of common management are as in the following : of the whole 76, 37 on the rotative trip to one single school, 8 to two schools, 1 to three schools, 28 on the trip to one single school plus central food production and 1 on the trip to two schools plus central food production. 2. The average job performing time in his or her school is 2813 minutes(8.52 hours) per week. 3. The factor of the evaluation and study of school foodservice has the highest level in every variant, but there were no standard job which needed the high-level difficulty and the longer job performing time as it needed the low degree of major recognition.

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삼심방증 치험 2례 (Cor Triatrium; A Classic Type and a Type Combibed with Atrial Septal Defect; Report of Two Cases)

  • 손제문
    • Journal of Chest Surgery
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    • 제26권7호
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    • pp.543-547
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    • 1993
  • Cor triatriatum is a rare entity of congenital heart disease characterized by the presence of a fibrousmuscular diaphragm that subdivides the left atrium into a proximal or "accessory" chamber and a distal or "true" left atrial chamber. In the other hand, cor triatriatum is a variant of abnormal connection between the pulmonary vein and true left atrium which is separated from accessory left atrium receiving pulmonary venous blood flow by fibromuscular diaphragm. We experienced two cases of cor triatriatum. One of them was classical, and the other case was combined with atrial septal defect and all pulmonary veins were drained into the " common pulmonary venous chamber " which connected with right atrium and there was no direct communication between the accessory chamber and true left atrium. The abnormal diaphragms were excised and the atrial septal defect was repaired with pericardial patch in case II. The postoperative courses were not eventful and the patients were discharged with good result, and have been in good condition upto now.n good condition upto now.

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ON THE PROXIMAL POINT METHOD FOR AN INFINITE FAMILY OF EQUILIBRIUM PROBLEMS IN BANACH SPACES

  • Khatibzadeh, Hadi;Mohebbi, Vahid
    • 대한수학회보
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    • 제56권3호
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    • pp.757-777
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    • 2019
  • In this paper, we study the convergence analysis of the sequences generated by the proximal point method for an infinite family of pseudo-monotone equilibrium problems in Banach spaces. We first prove the weak convergence of the generated sequence to a common solution of the infinite family of equilibrium problems with summable errors. Then, we show the strong convergence of the generated sequence to a common equilibrium point by some various additional assumptions. We also consider two variants for which we establish the strong convergence without any additional assumption. For both of them, each iteration consists of a proximal step followed by a computationally inexpensive step which ensures the strong convergence of the generated sequence. Also, for this two variants we are able to characterize the strong limit of the sequence: for the first variant it is the solution lying closest to an arbitrarily selected point, and for the second one it is the solution of the problem which lies closest to the initial iterate. Finally, we give a concrete example where the main results can be applied.

Comparison of SNP Variation and Distribution in Indigenous Ethiopian and Korean Cattle (Hanwoo) Populations

  • Edea, Zewdu;Dadi, Hailu;Kim, Sang-Wook;Dessie, Tadelle;Kim, Kwan-Suk
    • Genomics & Informatics
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    • 제10권3호
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    • pp.200-205
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    • 2012
  • Although a large number of single nucleotide polymorphisms (SNPs) have been identified from the bovine genome-sequencing project, few of these have been validated at large in Bos indicus breeds. We have genotyped 192 animals, representing 5 cattle populations of Ethiopia, with the Illumina Bovine 8K SNP BeadChip. These include 1 Sanga (Danakil), 3 zebu (Borana, Arsi and Ambo), and 1 zebu ${\times}$ Sanga intermediate (Horro) breeds. The Hanwoo (Bos taurus) was included for comparison purposes. Analysis of 7,045 SNP markers revealed that the mean minor allele frequency (MAF) was 0.23, 0.22, 0.21, 0.21, 0.23, and 0.29 for Ambo, Arsi, Borana, Danakil, Horro, and Hanwoo, respectively. Significant differences of MAF were observed between the indigenous Ethiopian cattle populations and Hanwoo breed (p < 0.001). Across the Ethiopian cattle populations, a common variant MAF (${\geq}0.10$ and ${\leq}0.5$) accounted for an overall estimated 73.79% of the 7,045 SNPs. The Hanwoo displayed a higher proportion of common variant SNPs (90%). Investigation within Ethiopian cattle populations showed that on average, 16.64% of the markers were monomorphic, but in the Hanwoo breed, only 6% of the markers were monomorphic. Across the sampled Ethiopian cattle populations, the mean observed and expected heterozygosities were 0.314 and 0.313, respectively. The level of SNP variation identified in this particular study highlights that these markers can be potentially used for genetic studies in African cattle breeds.