• Title/Summary/Keyword: Abnormal Signal

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Pseudoisodicentric X chromosome in a female with primary amenorrhea (원발성 무월경 여성에서 관찰된 Pseudoisodicentric X 염색체)

  • Park, Sang-Hee;Shim, Sung-Han;Chin, Mi-Uk;Kang, Su-Jin;Bae, Sung-Mi;Sohn, Soo-Min;Cha, Dong-Hyun;Yoon, Tae-Ki;Cho, Jung-Hyun
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.61-64
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    • 2008
  • A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with an LSI Kallmann (KAL) region probe [probes for Xp22.3(KAL) and CEP(X) for control] was carried out. The abnormal chromosome was KAL- and CEP(X)${\times}2$. In addition, interphase FISH analysis revealed the patient to be mosaic for two different cell lines: 90% of cells had three signals and 10% of the cells had only one signal for CEP(X). Based on these results, the karyotype of the patient was 45,X/46,X,psu idic(X)(p22.1), which is partial trisomy for Xqter${\rightarrow}$Xp22.1 and partial monosomy for Xpter${\rightarrow}$Xp22.1. This karyotype was considered a variant of Turner syndrome. In summary, Idic(X) and low-level mosaicism was successfully characterized by FISH analysis with a CEP(X) probe.

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Development of Orofacial Pains Therapy System based on Acupuncture Principles (침치료 원리를 이용한 안면 통증 치료기 개발)

  • Lee Yong-Heum;Bak Chang-Gye
    • Journal of the Korea Institute of Information and Communication Engineering
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    • v.9 no.5
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    • pp.1045-1051
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    • 2005
  • We developed an orofacial pains diagnosis/therapy system which can enlarge a therapy effect through a new stimulation. Contrary to its established method, this therapy system(DDTS-1) is a treating method which absorbs a surplus ion charge- the cause of an outbreak of a pain-of the human body using a capacitor. Absorbing a surplus ion charge of the human body with effect, it obtained optimal parameters which is control signal to control charging/discharging a capacitor to be 6Hz, and capacitance to be $0.1\~0.33{\mu}F.$ Through clinical demonstration, experimented on among patients-namely dental pain patients, joint disorders patients, and trigeminal neuralgia patients to verification of system. In result, an EAST stimulater had a very low change of abnormal potential against normal potential before/after being placed under medical care. DDTS-1 showed obvious differences that two potentials are one and the same potential or one potential is similar to the other one. DDTS-1 comparing with EAST showed the remedial value of the comparative advantage in all the medical treatment of pains. Therefore, stimulation of DDTS-1 is more effective than the existing electric stimulation. We verified its validity of ion charge absorption in the human body using capacitor which presented the present thesis. That is, we verified theoretical adequacy of control action in a pain, and its efficiency as well as confidence.

Impact on Inflammation and Recovery of Skin Barrier by Nordihydroguaiaretic Acid as a Protease-Activated Receptor 2 Antagonist

  • Kim, Hyo-Young;Goo, Jung-Hyun;Joo, Yeon-Ah;Lee, Ha-Yoen;Lee, Se-Mi;Oh, Chang-Taek;Ahn, Soo-Mi;Kim, Nam-Hoon;Hwang, Jae-Sung
    • Biomolecules & Therapeutics
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    • v.20 no.5
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    • pp.463-469
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    • 2012
  • Atopic dermatitis is a chronic, inflammatory disease of the skin with increased transepidermal water loss. Both an abnormal inflammatory response and a defective skin barrier are known to be involved in the pathogenesis of atopic dermatitis. Protease activated receptor 2 (PAR2) belongs to a family of G-protein coupled receptors and is activated by both trypsin and a specific agonist peptide, SLIGKV-$NH_2$. PAR2 is expressed in suprabasal layers of the epidermis and regulates inflammatory responses and barrier homeostasis. In this study, we show that nordihydroguaiaretic acid (NDGA) inhibits the PAR2-mediated signal pathway and plays a role in skin barrier recovery in atopic dermatitis. Specifically, NDGA reduces the mobilization of intracellular $Ca^{2+}$ in HaCaT keratinocytes by down-regulating inflammatory mediators, such as interleukin-8, thymus and activation-regulated chemokine and intercellular cell adhesion molecule-1 in HaCaT keratinocytes. Also, NDGA decreases the protein expression of involucrin, a differentiation maker of keratinocyte, in both HaCaT keratinocytes and normal human epidermal keratinocytes. We examined NDGA-recovered skin barrier in atopic dermatitis by using an oxazolone-induced atopic dermatitis model in hairless mice. Topical application of NDGA produced an increase in transepidermal water loss recovery and a decrease in serum IgE level, without weight loss. Accordingly, we suggest that NDGA acts as a PAR2 antagonist and may be a possible therapeutic agent for atopic dermatitis.

색소 과다 침착만으로 조기 발견한 소아 부신백질이영양증 1례

  • Park, Seon-Hyeong;Hong, Yong-Hui
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.195-199
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    • 2014
  • The X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease by defects of ABCD1 gene on chromosome Xq28 leading to accumulation of saturated very long chain fatty acids (VLCFA), progressive demyelination and adrenal insufficiency. A 4-year-old boy was visited hospital with the chief compliant of hyperpigmentation beginning at 2-years old. Serum adrenocorticotropic hormone (ACTH) and cortisol concentration were compatible with adrenal insufficiency. The elevated plasmatic concentration of VLCFA and genotype analysis with sequencing of ABCD1 gene established the diagnosis of X-ALD. Brain MRI showed no abnormal high signal intensity on the white matter. Steroid replacement was started with good response. He initiated Lorenzo's oil with restriction of VLCFA by reducing the intake of fatty foods. The author highlight the importance of suspecting of X-ALD in the etiology of primary adrenal insufficiency as the first sign of the disease.

A New Paradigm to Mitigate Osteosarcoma by Regulation of MicroRNAs and Suppression of the NF-${\kappa}B$ Signaling Cascade

  • Mongre, Raj Kumar;Sodhi, Simrinder Singh;Ghosh, Mrinmoy;Kim, Jeong Hyun;Kim, Nameun;Sharma, Neelesh;Jeong, Dong Kee
    • Development and Reproduction
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    • v.18 no.4
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    • pp.197-212
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    • 2014
  • Osteosarcoma (OS) is one of the most common malignant primary bone tumors and NF-${\kappa}B$ appears to play a causative role, but the mechanisms are poorly understood. OS is one of the pleomorphic, highly metastasized and invasive neoplasm which is capable to generate osteoid, osteoclast and osteoblast matrix. Its high incidence has been reported in adolescent and children. Cell signal cascade is the pivotal functional mechanism acquired during the differentiation, proliferation, growth and survival of the cells in neoplasm including OS. The major limitation to the success of chemotherapy in OS is the development of multidrug resistance (MDR). Answers to all such queries might come from the knock-in experiments in which the combined approach of miRNAs with NF-${\kappa}B$ pathway is put into use. Abnormal miRNAs can modulate several epigenetical switching as a hallmark of number of diseases via different cell signaling. Studies on miRNAs have opened up the new avenues for both the diagnosis and treatment of cancers including OS. Collectively, through the present study an attempt has been made to establish a new systematic approach for the investigation of microRNAs, bio-physiological factors and their target pairs with NF-${\kappa}B$ to ameliorate oncogenesis with the "bridge between miRNAs and NF-${\kappa}B$". The application of NF-${\kappa}B$ inhibitors in combination with miRNAs is expected to result in a more efficient killing of the cancer stem cells and a slower or less likely recurrence of cancer.

Protective Effects of Quercetin-3-O-glucuronide against 1-methyl-4-phenylpyridinium-induced Neurotoxicity (1-methyl-4-phenylpyridinium으로 유도된 신경 손상에 대한 quercetin-3-O-glucuronide의 보호 효과)

  • Pariyar, Ramesh;Bastola, Tonking;Seo, Jungwon
    • Journal of Life Science
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    • v.29 no.2
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    • pp.191-197
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    • 2019
  • Parkinson's disease (PD) is a progressive neurodegenerative disease that mainly affects motor system with clinical features such as bradykinesia, rigidity, tremor and abnormal posture. PD is characterized by the death of dopaminergic neurons in the substantia nigra pars compacta, which is associated with accumulation of oxidative stress and dysregulation of intracellular signaling pathway. Quercetin-3-O-glucuronide (Q3GA), a major metabolite of quercetin, has been reported to have neuroprotective effects. In this study, we examined the neuroprotective effect of Q3GA against 1-methyl-4-phenyl pyridinium ($MPP^+$)-induced neurotoxicity of PD and the underlying molecular mechanisms in SH-SY5Y cells. MTT and LDH assay showed that Q3GA significantly decreased $MPP^+$-induced cell death, which is accompanied by a reduction in poly (ADP-ribose) polymerase (PARP) cleavage. Furthermore, it attenuated $MPP^+$-induced intracellular reactive oxygen species (ROS) with the reduction of Bax/ Bcl-2 ratio. Moreover, Q3GA significantly increased the phosphorylation of Akt and cAMP response element binding protein (CREB), but it has no effects on the phosphorylation of extracellular signal-regulated kinase (ERK). Taken together, these results demonstrate that Q3GA significantly attenuates $MPP^+$-induced neurotoxicity through ROS reduction and Akt/CREB signaling pathway in SH-SY5Y cells. Our findings suggest that Q3GA might be one of the potential candidates for the prevention and/or treatment of PD.

Localization of Bilateral Hemisphere Lesion Using Combined Transcranial Magnetic Stimulation and Diffusion Tensor Imaging: Report of Two Cases (경두개 자기자극과 확산텐서 신경섬유로 검사를 통한 대뇌 병변의 국소화: 증례보고)

  • Lee, Hyung Nam;Oh, Young-Bin;Kim, Gi-Wook;Won, Yu Hui;Ko, Myoung-Hwan;Seo, Jeong-Hwan;Park, Sung-Hee
    • Journal of Electrodiagnosis and Neuromuscular Diseases
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    • v.20 no.2
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    • pp.106-111
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    • 2018
  • Transcranial magnetic stimulation (TMS) has been a gold standard for investigating central motor pathways in humans. Diffusion tensor imaging with fiber tractography (DTI FT) is known for its usefulness in detecting white matter lesion in vivo. We investigated the clinical usefulness of elucidating the integrity and continuity of corticospinal tract (CST) by combined use of TMS and DTI FT in this study. We report two cases who have presented with left hemiparesis and evaluated by both TMS and DTI FT; 10-year-old boy with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episode syndrome and 20-year-old woman with traumatic brain injury. Combined use of TMS and DTI FT successfully led to localize the brain lesion that might cause motor impairment in patients with abnormal signal intensities in MRI. The results of this study suggest that TMS and DTI FT might provide the detailed information between function and anatomy of the CST, complementarily.

The Significance of Cancer Stem Cells in Canine Mammary Gland Tumors (개 유선종양 내 종양줄기세포의 중요성)

  • Park, Seo-Young;Baek, Yeong-Bin;Park, Sang-Ik;Lee, Chang-Min;Kim, Sung-Hak
    • Journal of Life Science
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    • v.31 no.2
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    • pp.248-255
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    • 2021
  • Mammary gland tumors are one of the most common cancers in female dogs, and there are various types of cells depending on the tumor type. Complex carcinoma consists of a combination of luminal epithelial and myoepithelial cells with intra-tumoral heterogeneity. However, the origins of these tumor cells and their effects on the malignancies of tumors have not been identified. Recently, it has been reported that cancer stem cells, identified in several types of human tumors, are involved in tumor heterogeneity and may also contribute to malignancies such as tumor recurrence and metastasis. Interestingly, cancer stem cells share several abilities of self-renewal and cell differentiation into multiple types of cancer cells, but they have abnormal genetic mutation and signal transduction pathways to regulate the maintenance of stem cell characters. Moreover, it is known that these cell populations contribute to cell metastasis as well as cell resistance against chemo- and radio-therapeutics that promote tumor recurrence. The existence of cancer stem cells might explain the intra-tumoral heterogeneity and cancer aggressiveness during tumorigenesis in canine mammary gland tumors. This review summarizes the characteristics and types of canine mammary gland tumors, the definition of tumor stem cells, methods of isolation, and clinical significance.

A Study on Improvement of Directional Errors for K-MLRS Launcher (천무 발사대 방향성 오류현상 개선에 관한 연구)

  • Kim, Hyeeun;Kim, Minchang;Yu, Hanjun;Bae, Gongmyeong;Oh, Eunbin
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.22 no.2
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    • pp.705-713
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    • 2021
  • Because the cage assembly serves as the launch platform, an accurate aim is essential to ensure shooting accuracy for the target. On the other hand, the abnormal rotation of the cage due to the directional errors of the K-MLRS has continuously caused quality problems. The quality problem of weapon systems may have a negative impact on the military's power loss. In this study, improvement plans were derived by examining the defects and analyzing the directional errors of the K-MLRS launcher. In addition, all possible causes of directional errors were derived from the flow diagram for cage directionality. Based on the results, the defense design through the software program was intended to prevent the loss of direction. Through this study, the signal error of the resolver was improved by preventing unspecific signals in the data. Furthermore, the directional judgment method was improved to minimize the impact of data distortion. Lastly, directional storage and verification methods were improved so that data for the cage rotation direction would not be affected by errors. For the design improvement method, the reliability was verified through the system applicability. This study is expected to be a reference for failure analysis and design for similar weapon systems in the future.

Development of High Energy X-ray Dose Measuring Device based Ion Chamber for Cargo Container Inspection System (이온전리함 기반의 컨테이너 검색용 고에너지 X-선 선량 측정장치 개발)

  • Lee, Junghee;Lim, Chang Hwy;Park, Jong-Won;Lee, Sang Heon
    • Journal of the Korea Institute of Information and Communication Engineering
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    • v.24 no.12
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    • pp.1711-1717
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    • 2020
  • X-ray of up to 9MeV are used for container inspection. X-ray intensity must be maintained stably regardless of changes in time. If dose is not constant, it may affect the image quality, and as a result, may affect the inspection of abnormal cargo. Therefore, to acquire high-quality images, continuous dose monitoring is required. In this study, the ion-chamber based device was developed for monitoring the dose change in high-energy x-ray. And to estimate the performance of signal-processing device change according to the environmental change, the output changing due to the change of temperature and humidity was observed. In addition, verification of the device was performed by measuring the output change. As a result of the measurement, there was no significant difference in performance due to changes in temperature and humidity, and the change in output according to the change in exposure was linear. Therefore, it was found that the developed device is suitable for the dose monitoring of high-energy x-ray.