• 제목/요약/키워드: Genomics

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Effects of Different Music Genres on the Stress Levels of Jeju Crossbred Horses (마방에서 음악장르에 따른 Jeju crossbred의 스트레스 변화 연구)

  • Yoonjeong Jang;Jae-Young Choi;Jongan Lee;Yongjun Kang;Nayoung Kim;Minjung Yoon;Moon-Cheol Shin;Sang-Min Shin;Sangsoo Sun;Jiwoong Lee
    • Journal of Life Science
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    • v.33 no.12
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    • pp.995-1001
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    • 2023
  • This study investigated the effects of three music genres (classical, new age, and rock) on the stress levels of six Jeju crossbred horses (Jeju horse × Thoroughbred) in a horse stable. The horses were exposed to the three genres for seven days, and their stress levels were measured by analyzing physiological markers, including neurotransmitter (cortisol, β-endorphin, dopamine, serotonin, and oxytocin) plasma levels and creatine phosphokinase (CPK) and aldolase serum levels. The neurotransmitter analysis showed significant differences in cortisol levels between classical and new age music exposure. Dopamine levels decreased significantly only with new age exposure. Although there were no significant differences in β-endorphin levels between the three genres, β-endorphin levels decreased with increasing classical and new age music playback times and increased with increasing rock music playback times. There were no significant differences in serotonin levels between the three genres. Oxytocin levels decreased significantly with exposure to classical and rock music. The CPK and aldolase analyses showed that CPK levels decreased significantly only with exposure to new age music and increased after playback ended, while aldolase levels decreased significantly with classical and new age music exposure and increased after playback ended. These findings suggest that classical music and new age are the optimal music genres for the psychological stability of Jeju crossbred horses. Playing back an appropriate music genre could be used to improve breeding and promote the welfare of Jeju crossbred horses.

Examination of the Central Metabolic Pathway With Genomics in Lactiplantibacillus plantarum K9 (Lactiplantibacillus plantarum K9 유전체 분석을 통해 필수 물질대사 경로의 탐색)

  • Sam Woong Kim;Young Jin Kim;Hyo In Choi;Sang Won Lee;Won-Jae Chi;Woo Young Bang;Tae Wan Kim;Kyu Ho Bang;Sang Wan Gal
    • Journal of Life Science
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    • v.34 no.7
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    • pp.465-475
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    • 2024
  • Lactiplantibacillus plantarum K9 is a probiotic strain that can be utilized from various bioactive substances isolated from Protaetia brevitarsis seulensis larvae. In this study, a genetic analysis of L. plantarum K9 revealed the existence of a bacterial chromosome and three plasmids. The glycolysis pathway and pentose phosphate pathway were examined for their normal functioning via an analysis of the core metabolic pathways of L. plantarum K9. Since the key enzymes, fluctose-1,6-bisphospatase (EC: 3.1.3.11) and 6-phosphogluconate dehydratase (EC: 4.2.1.12)/2-keto-deoxy-6-phosphogluconate (KDPG) aldolase (EC: 4.2.1.55), of gluconeogenesis and the ED pathway were not identified from the L. plantarum K9 genome, we suggest that gluconeogenesis and the ED pathway are not performed in L. plantarum K9. Additionally, while some enzymes, related to fumarate and malate biosyntheses, involved in the TCA cycle were identified from L. plantarum K9, the enzymes associated with the remaining TCA cycle were absent, indicating that the TCA cycle cannot proceed. Meanwhile, based on our findings, we propose that the oxidative electron transport system performs class IIB-type (bd-type) electron transfer. In summary, we assert that L. plantarum K9 performs homolactic fermentation, executes gluconeogenesis and the pentose phosphate pathway, and carries out energy metabolism through the class IIB-type oxidative electron transport system. Therefore, we suggest that L. plantarum K9 has relatively high lactic acid production, and that it has excellent antibacterial activity, as a result, compared to other lactic acid bacterial strains. Moreover, we speculate that L. plantarum K9 has an oxidative electron transport capability, indicating that it is highly resistant to oxygen and suggesting that it has fine cultivation characteristics, which collectively make it highly suitable for use as a probiotic.

Atypical Ductal Hyperplasia: Risk Factors for Predicting Pathologic Upgrade on Excisional Biopsy (침생검 조직검사에서 진단된 비정형 관상피증식증: 수술적 절제 생검에서 악성으로 진단될 가능성을 예측할 수 있는 위험인자들)

  • Ko Woon Park;Boo-Kyung Han;Sun Jung Rhee;Soo Youn Cho;Eun Young Ko;Eun Sook Ko;Ji Soo Choi
    • Journal of the Korean Society of Radiology
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    • v.83 no.3
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    • pp.632-644
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    • 2022
  • Purpose To determine the incidence of atypical ductal hyperplasia (ADH) in needle biopsy and the upgrade rate to carcinoma, and to evaluate difference in findings between the upgrade and non-upgrade groups. Materials and Methods Among 9660 needle biopsies performed over 48 months, we reviewed the radiologic and histopathologic findings of ADH and compared the differences in imaging findings (mammography and breast US) and biopsy methods between the upgrade and non-upgrade groups. Results The incidence of ADH was 1.7% (169/9660). Of 112 resected cases and 30 cases followed-up for over 2 years, 35 were upgraded to carcinoma (24.6%, 35/142). The upgrade rates were significantly different according to biopsy methods: US-guided core needle biopsy (USCNB) (40.7%, 22/54) vs. stereotactic-vacuum-assisted biopsy (S-VAB) (16.0%, 12/75) vs. USguided VAB (US-VAB) (7.7%, 1/13) (p = 0.002). Multivariable analysis showed that only US-CNB (odds ratio = 5.19, 95% confidence interval: 2.16-13.95, p < 0.001) was an independent predictor for pathologic upgrade. There was no upgrade when a sonographic mass was biopsied by US-VAB (n = 7) Conclusion The incidence of ADH was relatively low (1.7%) and the upgrade rate was 24.6%. Surgical excision should be considered because of the considerable upgrade rate, except in the case of US-VAB.

A Long Term Follow Up Two Cases of Lesch-Nyhan Syndrome Pink Diaper (Lesch-Nyhan 증후군 장기 추적관찰: 분홍 기저귀)

  • Jae Young Kim;Wung Joo Song;Bong-Ok Kim;Harvey L. Levy;Sook Za Kim
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.24 no.1
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    • pp.26-36
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    • 2024
  • Lesch-Nyhan syndrome (LNS) is an Clinical symptoms can range from mild to severe depending on residual enzyme activity and genetic mutations. In Korea, 27 cases of LNS have been reported. We report the results of an 11-year comparative follow-up of two cases of children who visited because of pink diapers, one who died from LNS with no residual enzymes and one case with partial residual enzymes. Case 1: During follow-up, seizures, developmental delay, and regression were observed. The boy experienced insomnia and severe constipation. He exhibited self-mutilating behavior, a grand mal seizure, scoliosis with severe spasticity, truncal hypotonia, choreoathetoid movement, and ataxia. After prolonged emaciation, staghorn calculi, and recurrent pneumonia, the patient died suddenly at the age of 11 years. Genetic testing revealed a hemizygous HPRT1 variant (c.151C>T (p.Arg51Ter)). Uric acid level was 10.5 mg/dL (normal range: ~3.5-7.9) and HPRT activity 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot). Case 2: During follow-up, the patient remained underweight. He has normal intelligence attending primary school. Self-mutilation symptoms were not observed. Regular renal ultrasonography did not reveal urolithiasis. The patient had a hemizygous HPRT1 variant (c.35A>C (p.Asp12Ala)). Uric acid level and HPRT activity were 11 mg/dL and 0.56 nmol/hr/spot. Pink diapers after the neonatal period and severe protein aversion, neurological problems, and kidney stones, differentiation for LNS is necessary. When suspected, serum uric acid levels, HPRT enzyme activity, and molecular biological tests may be helpful in predicting the prognosis of LNS.

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Genetic Counseling in Korean Health Care System (한국 의료제도와 유전상담 서비스의 구축)

  • Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.89-99
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    • 2011
  • Over the years Korean health care system has improved in delivery of quality care to the general population for many areas of the health problems. The system is now being recognized in the world as the most cost effective one. It is covered by the uniform national health insurance policy for which most people in Korea are mandatory policy holders. Genetic counseling service, however, which is well recognized as an integral part of clinical genetics service deals with diagnosis and management of genetic condition as well as genetic information presentation and family support, is yet to be delivered in comprehensive way for the patients and families in need. Two major obstacles in providing genetic counseling service in korean health care system are identified; One is the lack of recognition for the need for genetic counseling service as necessary service by the national health insurance. Genetic counseling consumes a significant time in delivery and the current very low-fee schedule for physician service makes it very difficult to provide meaningful service. Second is the critical shortage of qualified professionals in the field of medical genetics and genetic counseling who can provide the service of genetic counseling in clinical setting. However, recognition and understanding of the fact that the scope and role of genetic counseling is expanding in post genomic era of personalized medicine for delivery of quality health care, will lead to the efforts to overcome obstacles in providing genetic counseling service in korean health care system. Only concerted efforts from health care policy makers of government on clinical genetics service and genetic counseling for establishing adequate reimbursement coverage and professional communities for developing educational program and certification process for professional genetic counselors, are necessary for the delivery of much needed clinical genetic counseling service in Korea.

A Study of Guidelines for Genetic Counseling in Preimplantation Genetic Diagnosis (PGD) (착상전 유전진단을 위한 유전상담 현황과 지침개발을 위한 기초 연구)

  • Kim, Min-Jee;Lee, Hyoung-Song;Kang, Inn-Soo;Jeong, Seon-Yong;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.125-132
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    • 2010
  • Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.