• Journal of Genetic Medicine
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• v.16 no.2
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• pp.55-61
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• 2019

Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

• Korean Journal of Food Science and Technology
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• v.24 no.3
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• pp.193-198
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• 1992

The inhibitory effects of radish juice on the mutagenicities of cigarette smoke condensate (CSC), methanol extract of charred part of fried or broiled saury pike (MECS) and 2-aminofluorene (2-AF) were examined by the use of Ames assay toward Salmonella typhimurium TA 98 strain. Radish juice exhibited inhibition percentage of about 100, 100 and 87 on the mutagenicities of CSC, two kinds of MECS and 2-AF, respectively. Except for juices of cabbage and leek, radish juice has inhibited more effectively the mutagenicity of CSC than other fruit or vegetable juices studied. Inhibitory effect of radish juice might be originated from the components with molecular weight above 50,000 and decreased sharply in 5 min by heat treatment at $100^{\circ}C$, but hardly changed at low and moderate storage temperatures such as $4^{\circ}C,\;10^{\circ}C,\;25^{\circ}C\;and\;35^{\circ}C$ for about 2 weeks. Precipitate obtained from ammonium sulfate saturation from 30 to 80% had inhibitory effect on the mutagenicity of CSC. Extracts from 3 bands of non-denaturing gel of $30{\sim}80%$ amnonium sulfate precipitate have exhibited the inhibitory effects on the mutagenicity of CSC.

• Clinical and Experimental Reproductive Medicine
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• v.30 no.3
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• pp.217-222
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• 2003

Objective: To investigate the association of genetic background between MTHFR C677T genotype and infertile females with polycystic ovarian syndrome. Materials and Methods: We compared 86 infertile females with polycystic ovarian syndrome (PCOS) with 100 healthy fertile females with one or more offspring. Pyrosequencing analysis for MTHFR C677T variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of C677T variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR C677T genotype. Results: The prevalence of the C677T mutant homozygous (TT) was significantly lower (p=0.0085) in females with PCOS (8.14%) than in fertile females (21.00%). MTHFR 677 TT genotype had a decreased risk (3.7-fold) of PCOS compared with wild type (MTHFR 677 CC). Conclusion: Our data support a role for MTHFR mutant homozygous (677 TT) genotype in reducing risk in Korean infertile females with Polycystic ovarian syndrome.

• The Korean Journal of Nuclear Medicine
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• v.30 no.4
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• pp.463-468
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• 1996

본 연구는 간질 병소의 국소화에 있어 발작기 및 발작간 뇌스캔의 정확도를 알아보고 발작기 뇌 스캔에서 나타나는 간질 확산이 정확한 간질 병소를 국소화 하는데 어떠한 영향을 미치는가에 대하여 알아보고자 하였다. 15명의 복잡 부분 발작 환자를 대상으로 하였으며, 간질 병소의 최종적인 국소화는 두피 및 발작 뇌파, 피질 뇌파, 자기 공명 영상, 임상양상 및 병리 소견을 종합한 근거로 하였다. 발작기 뇌스캔은 뇌파상 발작 중 또는 환자가 aura를 호소할 때 Tc-99m HMPAO 20mCi(740 MBq)를 정맥주입후 시행하였으며 발작간 뇌스캔은 발작기 뇌스캔 후 3일 이내 임상적으로 발작 증상이 없는 기간에 시행하였다. 간질 병소는 우측 측두엽이 8예, 좌측 측두엽이 6예, 측두엽 이외의 기원이 1예 였다. 발작기 뇌스캔상, 모두 11예(73.3 %)에서 단발성 또는 다발성 섭취 증가가 간질 병소 및 간질확산 부위에서 관찰되었으며, 간질 병소에만 국한된 섭취 증가는 4예(26.7%)에 불과 하였다. 발작간 뇌스캔에는 모두 11예(73.3 %)에서 간질 병소에만 섭취가 감소되었다. 자기 공명 영상에서는 8예(53.3 %)에서 hippocampal sclerosis를 포함한 간질 병소가 확인되었다. 본 연구로 복잡 부분 발작 환자에서, 간질 확산이 발작기 뇌 스캔 중 자주 관찰됨을 알 수 있었으며, 이러한 간질 확산에 따른 다발성 방사능 섭취가 발작기 뇌스캔상, 간질 병소의 국소화에있어 한계가 있음을 결론 내릴 수 있었다.

• Applied Microscopy
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• v.34 no.1
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• pp.13-21
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• 2004

The high voltage electron microscope (HVEM) newly installed in KBSI is an advanced transmission electron microscope capable of atomic resolution (${\leq}1.2{\AA}$ point-to-point resolution) together with high titling function (${\pm}60^{\circ}$), which are suitable to do 3-dimensional atomic imaging of a specimen. In addition, the instrument can be controlled by remote operation system, named as 'FasTEM' for the HVEM, which is favorable to overcome some environmental obstacles resulting from the direct operation. The FasTEM remote operation system has been established between the headquarter of KBSI in Daejeon and the Seoul branch. The server system in the headquarter has been connected with a portable client console system in the Seoul branch using an advanced internet resource, 'KOREN' of 155 Mbps grade. Most of the HVEM functions essential to do remote operation are available on the portable client console. The experiment to acquire the high resolution image of [001] Au has been achieved by excellent transmission of control signals and communication with the HVEM. Real-time reaction like direct operation, such as controls of the illumination and projection parameters, acquisition and adjustment of each detector signal, and electrical steering of each motor-driven system has been realized in remote site. It is positively anticipated that the first remote operation of HVEM in conjunction with IT infraengineering plays a important role in constructing the network based e-Science Grid in Korea for national user s facilities.

• Sleep Medicine and Psychophysiology
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• v.14 no.1
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• pp.49-53
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• 2007

Mitochondrial myopathy is characterized by variable clinical manifestations from mild limb weakness to fatal respiratory failure and central nervous system sequela. But it is a rare event that sleep disordered breathing become a clue of diagnosis for mitochondrial myopathy. We report a case of a 21 year-old man who was diagnosed as mitochondrial myopathy during the investigation for the possible cause of chronic hypoventilation syndrome. Before being admitted to our hospital, he was suspected as having sleep apnea syndrome in another hospital. We re-evaluated the history, physical examination, laboratoy findings and polysomnography in detail. Severe hypoxemia was noted during REM sleep on nocturnal polysomnography and the diagnosis of mitochondrial myopathy was made by muscle biopsy in rectus abdominis muscle. We treated him with bilevel positive airway pressure therapy during sleep and it could reverse the hypoxemia during REM sleep. He could be discharged with improved condition and is being well with the use of this ventilatory assistance.

• Journal of Ginseng Research
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• v.45 no.3
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• pp.401-407
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• 2021

Background: Gintonin is an exogenous ginseng-derived G-protein-coupled lysophosphatidic acid (LPA) receptor ligand. LPA induces in vitro morphological changes and migration through neuronal LPA1 receptor. Recently, we reported that systemic administration of gintonin increases blood-brain barrier (BBB) permeability via the paracellular pathway and its binding to brain neurons. However, little is known about the influences of gintonin on in vivo neuron morphology and migration in the brain. Materials and methods: We examined the effects of gintonin on in vitro migration and morphology using primary hippocampal neural precursor cells (hNPC) and in vivo effects of gintonin on adult brain neurons using real time microscopic analysis and immunohistochemical analysis to observe the morphological and locational changes induced by gintonin treatment. Results: We found that treating hNPCs with gintonin induced morphological changes with a cell rounding following cell aggregation and return to individual neurons with time relapses. However, the in vitro effects of gintonin on hNPCs were blocked by the LPA1/3 receptor antagonist, Ki16425, and Rho kinase inhibitor, Y27632. We also examined the in vivo effects of gintonin on the morphological changes and migration of neurons in adult mouse brains using anti-NeuN and -neurofilament H antibodies. We found that acute intravenous administration of gintonin induced morphological and migrational changes in brain neurons. Gintonin induced some migrations of neurons with shortened neurofilament H in the cortex. The in vivo effects of gintonin were also blocked by Ki16425. Conclusion: The present report raises the possibility that gintonin could enter the brain and exert its influences on the migration and morphology of adult mouse brain neurons and possibly explains the therapeutic effects of neurological diseases behind the gintonin administration.

• Journal of Yeungnam Medical Science
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• v.14 no.1
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• pp.183-196
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• 1997

An experimental study was performed to investigate. The subjects drank (0.5g/kg ethanol and performed 7 items of SPES(simple reaction time, color word stress, digit classification, finger tapping speed, numerical ability, symbol digit coding, memory digit span). 20 students of medical college participated in the study during August, 1996. After ethanol intake, performance of 4 items(simple reaction time, digit classification, finger tapping speed, symbol digit coding) significantly showed to be decreased. The function of perception-response speed and steady movement were found to be more sensitive to ethanol than that of short-term memory, numerical ability and specification of color. No significant association were found between smoking, alcohol drinking, BMI(body mass index) and the effects of ethanol on neurobehavioral performance.

• Journal of Physiology & Pathology in Korean Medicine
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• v.16 no.2
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• pp.397-402
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• 2002

Clinical studies were done treated with aroma therapy in 22cases of patients for suffering allergic rhinitis. who were treated at Dept of Oriental respiratory internal medicine in the Hospital of Taejeon University from January 2001 to May 2001. The results were as follows. 1. In distribution of sex & age. 45.5% of them were man, and 54.5% of them were woman. Of those who were attached, 2. In distribution of occupation, 59% of them were student, 18% of them were housewife, 18% of them were white color, 9% Of them were blue color. 3. In distribution of the period of the clinical history, under six months was 32%, under 1 year was 9%, under 3 years was 27%, over 3 years was 32%. 4. In distribution of the seasonal contributing factor, most of them were perenial allergic rhinitis, others generally started in spring or winter. 5. In distribution of past history, 59% of them are none, 18% of them are asthma, 18% of them are atopic dermatitis, 5% of them are allergic dermatitis. 6. In distribution of family history, 46% of them are none, 27% of them are sibling line, 18% of them are paternal line, 9% of them are maternal line. 7. In distribution of symptom, the ratio of sneezing was 90%, nasal discharge was 81 %, nasal obstruction was 46%, pruritus was 41 %, headache was 31%, asthma was 22%, digestion disorder was 18%, tears was 9%, nosebreeding was 5%. 8. In distribution of diagnosis in descending order, wind-cold evil was 5%, spleen-lung energy asthnia was 31 %, lung-kidney asthnia was 64%. 9. In distribution of Herb medicine treatment, Tonggyu-tang was the most, the second was hyunggaiyunyo-tang. 10 In emotional change of patients aroma-therapy, only 14% of them felt good. 11. The total remedial value of the 22 patients was revealed 32.9%. 12. In proportion to grow older, the remedial value were decreased. 13. In proportion to the period of the clinical history was longer, the remedial value were decreased.

• Journal of the Korean Society of Food Culture
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• v.7 no.4
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• pp.297-301
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• 1992

To investigate effects of the surface finishing methods (A : conventional press stone, B : enclosing in polyethylene (PE) bag, C : press-tone wrapped with PE film and D : covered with Chinese cabbage leaves 4cm in thickness on Kimchi) on Kimchi quality, pH-values, redness, film forming yeast growth, hardness and sensory quality of Kimchi during storage (for 60 days, at $10{\pm}5^{\circ}C$) in glass vessel $(11{\times}30cm)$ were investigated. pH of the top layer of A, C and D sample were higher than the optimum pH (4.2) of Kimchi, film forming yeast occurred on the surface of Kimchi, color of top layer Kimchi juice was darkened, and panel score of freshness and firmness was significantly worse (p<0.01) than that of sample B. However, in the case of Kimchi stored in PE bag (B), film forming yeast were can't detected visually in the surface of Kimchi, pH values were low as good quality Kimchi, freshness and firmness panel scores and hardness were significantly better (p<0.01) than A, C and D, and redness of juice of top layer of B was also preserved clearly for 60 days. Accordingly among the four surface finishing methods, the B-method was most effective in preserving of y of Kimchi.