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A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
Kim, Jon Soo,Park, Jinyu,Min, Byung-Joo,Oh, Sun Kyung,Choi, Jin Sun,Woo, Mi Jung,Chae, Jong-Hee,Kim, Ki Joong,Hwang, Yong Seung,Lim, Byung Chan The Korean Pediatric Society 2012 Clinical and Experimental Pediatrics (CEP) Vol.55 No.12
We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.
A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
김존수,Jinyu Park,민병주,Sun Kyung Oh,Jin Sun Choi,Mi Jung Woo,Jong Hee Chae,Ki Joong Kim,Yong Seung Hwang,Byung Chan Lim 대한소아청소년과학회 2012 Clinical and Experimental Pediatrics (CEP) Vol.55 No.12
We report a case of isodicentric chromosome 15 (idic(15) chromosome),the presence of which resulted in uncontrolled seizures,including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.
Status of Anti-Neutrino Detection Technology for Reactor Monitoring in ROK
Bo-Young Han,Jinyu Kim,Gwang-Min Sun 한국방사성폐기물학회 2023 한국방사성폐기물학회 학술논문요약집 Vol.21 No.2
Over the past decades, particle physics has made significant progress in characterizing neutrinos even if neutrinos have extremely small cross-section (~10-44 cm2), allowing them to penetrate any object. More recently, neutrino detection and analysis have indeed become valuable tools in various aspects of nuclear science and technology. Neutrinos are detected using various methods, including Inverse Beta Decay (IBD), Neutrino-electron scattering, and Coherent Neutrino-Nucleus Scattering (CNNS). For the detection of anti-neutrinos from nuclear reactor, the Inverse Beta Decay (IBD) is commonly considered with scintillators. Notable experiments in Korea, such as RENO and NEOS, have been conducted using the IBD method at the Hanbit Nuclear Power Plant since 2006. Additionally, the NEON experiment, which employs CNNS, which has a significantly larger reaction cross-section than IBD but its low-energy signal detection difficulty, has been ongoing since 2021. Based on the results of NEOS (2015-2020) the signal to noise is ~30 and IBD detection rate is ~2000 counts per day. The IBD event in nuclear power plants provides valuable information about reactor behavior. IBD count rates are in good agreement with the thermal power of the reactor. Furthermore, the neutrino energy spectrum can be used to estimate the fission isotope ratio of the reactor core, showing promise for obtaining reactor core information from antineutrino detection techniques. Neutrino detection in nuclear facilities provides valuable information about reactor behavior. However, as a surveillance technology neutrino detection faces challenges due to the very low cross-section, requiring efforts to overcome limitations related to detector size and signal acquisition time. In 2008, the International Atomic Energy Agency (IAEA) included neutrino detection in its Research and Development (R&D) program for reactor safeguards. In January 2023, the IAEA organized a “Technical Meeting on Nuclear Data Needs for Antineutrino Spectra Applications” to discuss the latest developments and research results in this field. In summary, the use of neutrino detection in the nuclear field, particularly for reactor monitoring and safeguarding, has advanced significantly. Ongoing research and collaboration are expected to enhance our understanding of neutrinos and their applications in nuclear science and technology.
박성진(Sung Jin Park),송성원(Seong Won Song),성동호(Dong Ho Seong),박동식(Dong Sik Park),김승섭(Seung Seop Kim),고징유(Gou Jinyu),안주희(Ju Hee Ahn),윤원병(Won Byung Yoon),이현용(Hyeon Yong Lee) 한국식품영양과학회 2009 한국식품영양과학회지 Vol.38 No.8
발효더덕의 기능성식품 및 화장품 소재로서의 이용 가능성을 조사하기 위해 발효더덕의 열수 추출물의 총 페놀 함량, 총 플라보노이드 함량, 전자공여능, SOD 유사활성, 아질산염 소거능, 환원력을 측정하였다. 발효더덕 추출물의 총 페놀 함량은 2.79 ㎎/100 g, 총 플라보노이드 함량은 6.19㎎/100 g으로 생더덕보다는 총 플라보노이드 및 총 페놀화합물이 많이 함유한 것으로 나타났다. 전자공여능은 발효더덕 추출물에서 32.9~74.9%, 생더덕에서 8.0~17.9%의 범위로 발효더덕 추출물에서 비교적 높은 활성을 나타내었다. SOD 유사활성을 측정한 결과 생더덕 추출물은 0.6~16.5%, 발효더덕 추출물은 3.5~21.6%의 범위로 분석되었으며, 농도에 따른 유의적 증가 현상을 나타내었다. 아질산염 소거능은 모든 pH 조건(pH 1.2, 3.0, 4.2, 6.0) 하에서 발효더덕 추출물이 높은 아질산염 소거능을 나타내었으며, pH가 증가할수록 감소하였다. 환원력의 경우에는 발효더덕 추출물이 1,000㎍/mL에서 0.65의 값으로 가장 높은 활성을 보였다. 이상의 결과로부터 발효더덕 추출물은 항산화능이 있음을 확인할 수 있었으며, 발효더덕의 이러한 우수한 결과의 확인을 위하여 발효에 의한 성분 변화에 대하여 더욱 연구가 필요할 것으로 사료된다. To investigate the applicability of hot water extract from Codonoposis lanceolata (CL) and fermented Codonoposis lanceolata (FCL) as functional food and cosmeceutical material, its total phenolic contents, total flavonoids, electron donating ability (EDA), SOD-like activity, nitrate-scavenging ability (NSA), reducing power were examined. Total phenolic contents of CL and FCL were 0.54 ㎎/100 g and 2.79 ㎎/100 g, respectively, and total flavonoids contents were estimated as 2.26 mg/100 g for CL and 6.16 mg/100 g FCL. The EDA of CL and FCL were 8.0~17.9% and 32.9~74.9%. The SOD-like activities of CL and FCL were 0.6~16.5% and 3.5~21.6%, respectively, and the activity was dependent on the sample concentration. The NSA was pH dependent, and was the highest at pH 1.2 and the lowest at pH 6.0. The NSA of FCL was higher than that of CL. The FCL extract showed the highest reducing power (0.65) at the concentration of 1,000 ㎍/mL. Based on the above results, we deemed that the FCL might have potential antioxdant activities.
Jung-Hee Lee,Sung Gyun Ahn,Ho Sung Jeon,Jun-Won Lee,Young Jin Youn,Jinlong Zhang,Xinyang Hu,Jian’an Wang,Joo Myung Lee,Joo-Yong Hahn,Chang-Wook Nam,Joon-Hyung Doh,Bong-Ki Lee,Weon Kim,Jinyu Huang,Fan 대한심장학회 2024 Korean Circulation Journal Vol.54 No.8
Background and Objectives: Angiographic assessment of coronary stenosis severity using quantitative coronary angiography (QCA) is often inconsistent with that based on fractional flow reserve (FFR) or intravascular ultrasound (IVUS). We investigated the incidence of discrepancies between QCA and FFR or IVUS, and the outcomes of FFR- and IVUS-guided strategies in discordant coronary lesions. Methods: This study was a post-hoc analysis of the FLAVOUR study. We used a QCA-derived diameter stenosis (DS) of 60% or greater, the highest tertile, to classify coronary lesions as concordant or discordant with FFR or IVUS criteria for percutaneous coronary intervention (PCI). The patient-oriented composite outcome (POCO) was defined as a composite of death, myocardial infarction, or revascularization at 24 months. Results: The discordance rate between QCA and FFR or IVUS was 30.2% (n=551). The QCA-FFR discordance rate was numerically lower than the QCA-IVUS discordance rate (28.2% vs. 32.4%, p=0.050). In 200 patients with ≥60% DS, PCI was deferred according to negative FFR (n=141) and negative IVUS (n=59) (15.3% vs. 6.5%, p<0.001). The POCO incidence was comparable between the FFR- and IVUS-guided deferral strategies (5.9% vs. 3.4%, p=0.479). Conversely, 351 patients with DS <60% underwent PCI according to positive FFR (n=118) and positive IVUS (n=233) (12.8% vs. 25.9%, p<0.001). FFR- and IVUS-guided PCI did not differ in the incidence of POCO (9.5% vs. 6.5%, p=0.294). Conclusions: The proportion of QCA-FFR or IVUS discordance was approximately one third for intermediate coronary lesions. FFR- or IVUS-guided strategies for these lesions were comparable with respect to POCO at 24 months.
붕소 과잉 처리가 2년생 인삼의 지상부 생리장해, 생육 및 무기성분 함량에 미치는 영향
Jin Yu,In Bae Jang,Su Jeoung Suh,Hong Woo Park,Ki Beom Kwon,Ki Hong Kim 한국약용작물학회 2016 한국약용작물학술대회 발표집 Vol.2016 No.05
Background : Boron (B) is an essential element required for the growth of plant. It has a narrow range of optimal concentration from minimum to maximum thresholds than other micro-elements. The study was carried out to investigate to the influence of B excess concentrations on physiological disorder of leaf, growth and mineral concentration of ginseng to obtain basic information for physiological disorder diagnose. Methods and Results : The ginseng cultivar ‘Gumpoong’ was cultivated by hydroponic system for 2 months. The toxicity symptoms which ginseng leaves were curved downwardly and induced to chlorosis after beginning to dry the edge appeared on leaves more than 30 ppm compared to the control(3 ppm). The growth of ginseng was more decreased with higher B concentration. Mn uptake was also decreased as B concentration increased. It was found that B excess hindered the growth of ginseng and was reversely related to Mn uptake. Conclusions : More than B 30 ppm can negatively affect growth and mineral uptake. Consequently, B excess can occur physiological disorder of ginseng.