• Title/Summary/Keyword: Renal

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A Case of Ornithine Transcarbamylase Deficiency in a Boy with Neonatal Seizure and Altered Mentality (신생아기 경련 및 의식저하를 주소로 내원한 Ornithine Transcarbamylase Deficiency 남아 1례)

  • Im, Minji;Song, Ari;Lee, Soo-Youn;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.2
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    • pp.55-61
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    • 2018
  • Orinithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle with resulting hyperammonemia, which is medical emergency in newborns.We recently had a case of a boy that presented with lethargy, seizure, hyperammonemia and hypocalcemia in neonatal period. He was diagnosed with OTC deficiency by two consequent ways which are initial biochemical phenotype including hyperammonemia and an increased orotic acid in his urine and genetic analysis of the OTC gene. The OTC gene showed a novel hemizygous mutation c.913C>T (p.Pro305Ser). He was treated by low protein intake, sodium benzoate, phenylbutyrate sodium, L-arginine, and continuous renal replacement therapy (CRRT). After discharge, he has a relatively good prognosis without notable developmental delay. For good prognosis, the duration of hyperammonemia should be shorten. And it can be reached by an early diagnosis. For early detection of OTC deficiency, targeted exome sequencing will be a important role as well as biochemical tests.

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Factors Affecting Treatment Adherence of Kidney Transplantation Recipients (신장이식 환자의 치료지시이행에 영향을 미치는 요인)

  • Lee, Jung A;Kim, Young A;Cho Chung, Hyang-In
    • The Journal of the Korea Contents Association
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    • v.19 no.2
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    • pp.619-628
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    • 2019
  • This study is an explanatory research conducted to analyze the influencing factors of treatment adherence in kidney transplant recipients. The subjects were 132 renal transplant recipients who visited the outpatient department in a university hospital. Data were collected from July 17, 2017, to August 22, 2017, and analyzed using SPSS WIN 24.0. Frequency, percentage, mean and standard deviation, variance analysis, correlation, and regression analysis were performed. The results of the study showed that there was a significant difference in the treatment adherence based on the age, religion, and the time passed since kidney transplantation. The study also found that the treatment adherence had significant positive correlations with social support (r=.54, p<.001), family support (r=.43, p<.001), health provider's support (r=.57, p<.001), and self-care knowledge (r=.21, p=.015). The factors influencing the treatment adherence were health provider's support, the time passed since kidney transplantation, spouse, and religion. The final explanatory power of the model was 41.9%. In conclusion, intervention strategies should be introduced to promote the support of healthcare providers in order to improve the adherence of the kidney transplantation patients.

The Effects of Plasma Homocysteine Concentration on Upper Arm-Ankle Pulse Wave Velocity (혈장 호모시스테인 농도가 상완-발목 맥파 속도에 미치는 영향)

  • Kang, Ji-Hun;Shin, Sang-Yol
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.20 no.2
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    • pp.673-680
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    • 2019
  • This study was conducted to investigate the effects of plasma homocysteine concentration on the brachial-ankle pulse wave velocity between the normal homocysteine group and the asymptomatic high homocysteine group. 435 subjects who visited the general health examination center from April 1 to October 31, 2016, as well as to compare the direct correlation of the brachial-ankle pulse wave velocity, which indirectly reflects the homocysteine test and arterial stiffness, as a predictor of future cardiovascular outcome. As a result of the study, age, waist circumference, BUN, and plasma creatinine were significantly higher, and HDL was significantly lower in the high homocysteine group (> $15{\mu}mol/L$) than in the normal homocysteine group (< $15{\mu}mol/L$) (p=0.05). In addition, homocysteinemia was associated with smoking and drinking (p<0.001) and was significantly higher in males (p<0.001). The right and left brachial-to-ankle pulse wave velocities were significantly higher in the high homocysteine group (right p<0.001, left p=0.003) before calibrating the relevant variables. There was no significant difference between right and left brachial-to-ankle pulse wave velocities after calibrating the relevant variables. Therefore, further studies on the independent association of lowering homocysteine concentration and prevention of cardiovascular disease and the relationship between homocysteine and renal function are needed.

YM155 Induces Apoptosis through Downregulation of Anti-apoptotic Proteins in Head and Neck AMC-HN4 Cells (YM155 처리에 의한 두경부 암 AMC-HN4 세포 세포자멸사 유도 효과)

  • Chang, Ho Joon;Kwon, Taeg Kyu;Kim, Dong Eun
    • Journal of Life Science
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    • v.29 no.3
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    • pp.318-324
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    • 2019
  • Squamous cell carcinoma is the primary tumor type in head and neck cancers, the fifth most common malignant neoplasm world-wide. Survivin, a member of the inhibitor of apoptosis family, is highly expressed in head and neck carcinoma patients and correlated with more aggressive forms. In this study, we investigated whether YM155, a specific survivin inhibitor, could induce apoptosis in head and neck AMC-HN4 cells. YM155 was found to markedly induce apoptosis and cleavage of PARP, a marker of apoptosis. Furthermore, YM155 promoted apoptosis in other cancer cells, such as glioma (U251MG) and renal carcinoma (Caki) cells. In contrast, YM155 had no effect on apoptosis in normal mesangial cells. YM155 significantly induced caspase activation, and pan caspase inhibitor z-VAD-fmk markedly blocked apoptosis, PARP cleavage, and caspase-3 cleavage. Therefore, YM155 was seen to instigate caspase-dependent apoptosis in head and neck AMC-HN4 cells, inducing downregulation of survivin as well as other apoptotic proteins such as c-FLIP and Mcl-1. In addition, the induction of apoptosis and PARP cleavage by YM155 treatment was effectively inhibited in survivin-, c-FLIP- and Mcl-1-over-expressing head and neck AMC-HN4 cells. In conclusion, YM155 is a potent candidate for inducing cell death in head and neck AMC-HN4 cells.

An Assessment of the Usefulness of Time of Flight in Magnetic Resonance Angiography Covering the Aortic Arch

  • Yoo, Yeong-Jun;Choi, Sung-Hyun;Dong, Kyung-Rae;Ji, Yun-Sang;Choi, Ji-Won;Ryu, Jae-Kwang
    • Journal of Radiation Industry
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    • v.12 no.4
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    • pp.325-332
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    • 2018
  • Carotid angiography covering the aortic arch includes contrast-enhanced magnetic resonance angiography (CEA), which is applied to a large region and usually employs contrast media. However, the use of contrast media can be dangerous in infants, pregnant women, and patients with chronic renal failure (CRF). Follow-up patients informed of a lesion may also want to avoid constant exposure to contrast media. We aimed to apply time-of-flight (TOF) angiography to a large region and compare its usefulness with that of CEA. Ten patients (mean age, 58 years; range, 45~75 years) who visited our hospital for magnetic resonance angiography (MRA) participated in this study. A 3.0 Tesla Achieva magnetic resonance imaging (MRI) system (Philips, Netherland) and the SENSE NeuroVascular 16-channel coil were employed for both methods. Both methods were applied simultaneously to the same patient. Three TOF stacks were connected to cover the aortic arch through the circle of Willis, and CEA was applied in the same manner. For the quantitative assessment, the acquired images were used to set the regions of interest (ROIs) in the common carotid artery (CCA) bifurcation, internal carotid artery, external carotid artery, middle cerebral artery, and vertebral artery, and to obtain the signal-to-noise ratio (SNR) and the contrast-to-noise ratio (CNR) for the soft tissues. Three radiologists and one radiological resident performed the qualitative assessment on a 5-point scale - 1 point, "very bad"; 2 points, "bad"; 3 points, "average"; 4 points, "good"; and 5 points, "very good" - with regard to 4 items: (1) sharpness, (2) distortion, (3) vein contamination, and (4) expression of peripheral vessels. For the quantitative assessment, we estimated the mean SNR and CNR in each of the 5 ROIs. In general, the mean SNR was higher in TOF angiography (166.1, 205.2, 154.39, 172.23, and 161.95) than in CEA(92.05, 95.43, 84.76, 73.69, and 88.3). Both methods had a similar mean CNR: 67.62, 106.71, 55.9, 73.74, and 63.46 for TOF angiography, and 67.82, 71.19, 60.52, 49.45, and 64.07 for CEA. In all ROIs, the mean SNR was statistically significant (p<0.05), whereas the mean CNR was insignificant (p>0.05). The mean values of TOF angiography and CEA for each item in the qualitative assessment were 4.2 and 4.28, respectively for item 1; 2.93 and 4.55, respectively, for item 2; 4.6 and 3.13, respectively, for item 3; and 2.88 and 4.65, respectively, for item 4. Therefore, TOF angiography had a higher mean for item 3, and CEA had a higher mean for items 2 and 4; there was no significant difference between the two methods for item 1. The results for item 1 were statistically insignificant (p>0.05), whereas the results for items 2~4 were statistically significant (p<0.05). Both methods have advantages and disadvantages and they complement each other. However, CEA is usually applied to a large region covering the aortic arch. Time-of-flight angiography may be useful for people such as infants, pregnant women, CRF patients, and followup patients for whom the use of contrast media can be dangerous or unnecessary, depending on the circumstance.

DENTAL TREATMENT OF A PATIENT WITH BARTTER SYNDROME: CASE REPORT (Bartter 증후군 환아의 치아우식 치료: 증례보고)

  • Kim, Minji;Song, Ji-Soo;Shin, Teo Jeon;Hyun, Hong-Keun;Kim, Young-Jae;Kim, Jung-Wook;Lee, Sang-Hoon;Jang, Ki-Taeg
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.15 no.1
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    • pp.45-49
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    • 2019
  • Bartter syndrome is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia, hyperprostaglandinism, and normal blood pressure. Bartter syndrome is classified by neonatal and classic type. Clinical manifestation of Bartter syndrome considered in dental treatment include tendency to dehydration, vomiting and erosion, attrition and abrasion of the teeth. A 2-year-4 month old boy with Bartter syndrome type III was referred to the Seoul National University Dental Hospital for dental evaluation and treatment. He showed hypokalemic hypochloremic metabolic alkalosis and had been treated with indomethacin and potassium chloride. He had hypocalcified teeth with or without multisurface caries lesions in all dentition and the erosion of maxillary teeth was detected. Dental procedure under general anesthesia was scheduled due to multiple caries and his medical condition. The dental procedure was successfully performed. This case suggests that electrolyte imbalances need to be treated prior to dental treatment and complete coverage restoration is necessary to protect the eroded teeth. An appropriate management plan for the patients with Bartter syndrome should include considerations of the need for close interaction with the pediatrician for pre- and post-operative care. General anesthesia may be recommendable to manage the patients having multiple caries with Bartter syndrome.

A Study on the Protective Effect of Antioxidants on Damage Induced by Liver Ischemia/Repefusion in a Rat Model (모델 랫드에 간 허혈/재관류로 유발된 손상에 대한 항산화제의 보호 효과에 관한 연구)

  • Ahn, Yong Ho;Seok, Pu Reum;Oh, Su Jin;Choi, Jin Woo;Shin, Jae-Ho
    • Korean Journal of Clinical Laboratory Science
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    • v.51 no.3
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    • pp.370-378
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    • 2019
  • The hepatic ischemic model has recently been widely used for the epidemiological study of ischemic reperfusion injury. This study was carried out to investigate the protective effect of vanillin, which is known to have antioxidant and anti-inflammatory effects, against hepatic and renal injury using an ischemia-reperfusion rat model, and we also investigated the mechanism related to vanillins' protective effect. The test material was administered at a concentration of 100 mg/kg for 3 days, followed by ligation of the liver for 60 minutes to induce ischemia reperfusion. As control groups, there was a negative control, sham control and ischemia-reperfusion-only ischemia reperfusion control, and the controls groups were compared with the drug administration group. In the vanillin group, aspartate aminotransferase (AST) and alanine aminotransferase (ALT) activities were significantly inhibited compared with the AST and ALT activities of the ischemia-reperfusion group, and histopathological examination showed significant reduction of both inflammation and necrosis. The malondialdehyde (MDA) and superoxide dismutase (SOD) levels were significantly different from the ischemia-reperfusion group. In conclusion, vanillin showed a hepatocyte protective action by alleviating the cellular inflammation and cell necrosis caused by hepatic ischemia-reperfusion, and vanillin mitigated inflammatory changes in the kidney glomeruli and distal tubules. The protective effect is considered to be caused by vanillin's antioxidant function. Further studies such as on cell death and possibly vanillin's same effect on damaged tissue will be necessary for clinical applications such as organ transplantation.

Changes in the Concentration and Localization of Accumulated Mercury in Kidney, Liver, and Spleen of Mice over Time (생쥐 신장, 간, 비장 내 시간에 따른 수은 농도 변화와 수은 화합물의 위치)

  • Kim, Yu Seon;Kim, Young Eun;Cho, Hyun Wook
    • Journal of Life Science
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    • v.29 no.8
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    • pp.879-887
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    • 2019
  • This study investigated the localization and changes in the concentration of injected mercury in the kidney, liver, and spleen of mice. To evaluate changes in the concentration of mercury over time, the mice were euthanized 10, 150, and 300 days post-treatment. Localization of accumulated mercury was identified by the autometallography method. Mercury was densely located in the supranuclear cytoplasm of epithelial cells of proximal tubules of the kidney but was not detected in the glomerulus 10 days post-treatment. In the liver, mercury was mainly found in hepatocytes around the portal vein and in sinusoidal Kupffer cells 10 days post-treatment. Mercury was scattered throughout both white and red pulp of the spleen 10 days post-treatment. In terms of changes in the concentration of mercury, the levels were lower in the renal cortex and medulla 150 and 300 days post-treatment as compared with those 10 days post-treatment. Mercury was found at low concentrations in liver hepatocytes 150 and 300 days post-treatment. The mercury concentration was also low in both the white and red pulp of the spleen 150 and 300 days post-treatment. Therefore, the concentrations of accumulated mercury in the kidney, liver, and spleen 150 and 300 days post-treatment were lower than those 10 days post-treatment. We identified the localization of mercury in cells and tissues of several organs and observed that accumulated mercury in organs decreased naturally over time.

Clinical characteristics of heat stroke in bath facilities, and analysis of predictive factors of multiple major complications (목욕시설에서 발생한 열사병의 임상양상 및 열사병의 다발성 주요 합병증에 관한 예측인자 분석)

  • Park, Seok-Jin;Hyun, Sung-Youl;Lim, Yong-Su;Cho, Jin-Seong;Min, Kyoung-Jeen;Yang, Hyuk-Jun
    • Journal of The Korean Society of Emergency Medicine
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    • v.29 no.5
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    • pp.500-508
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    • 2018
  • Objective: The aim of this study was to evaluate the clinical characteristics of heat stroke in a bath facility and investigate predictive factors of multiple major complications in heat stroke patients. Methods: This was a retrospective study on heat stroke patients who visited an urban emergency center from January 2010 to March 2018. We compared clinical characteristics, complication, and outcomes of heat stroke patients in bath and non-bath facilities. Multivariate logistic regression analysis were performed to identify independent predictors of multiple major complications in heat stroke patients. Results: A total of 67 heat stroke patients with heat stroke were enrolled, of which 42 (62.6%) were in a bath facility and 25 (37.3%) were in a non-bath facility. Patients with heat stroke in the bath facility were characterized by old age, past medical history of hypertension and diabetes mellitus, and high incidence of hypotension compared with those in the non-bath facility but also low incidence of acute renal failure, seizure, and multiple major complications. In the multivariate analysis, predictive factors of multiple major complications in heat stroke patients were non-bath facility (odds ratio [OR], 5.4; 95% confidence interval [CI], 1.2-29.9), Glasgow Coma Scale (GCS)${\leq}8$ (OR, 8.2; 95% CI, 1.3-49.4), and mean arterial pressure (MAP), body temperature above $40.5^{\circ}C$ (OR, 8.1; 95% CI, 1.1-58.8) <60 mmHg (OR, 14.8; 95% CI, 1.8-122.9). Conclusion: Heat stroke in the bath facility resulted in less major complications, and high body temperature, GCS ${\leq}8$, and MAP <60 mmHg were independent predictive factors of multiple major complications in heat stroke patients.

Physiologically active components and vasorelaxation effect of Vitis labruscana B. and Vitis coignetiae grapevine leaves at growth stages (켐벨얼리(Vitis labruscana B.)와 머루(Vitis coignetiae) 포도잎의 생육단계별 생리 활성 성분 및 혈관 이완능)

  • Yu, Jin-Ju;Kim, Hye-Yoom
    • Korean Journal of Food Science and Technology
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    • v.53 no.1
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    • pp.40-45
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    • 2021
  • Prior studies of physiologically active substances in grapes have focused only on the fruit, pericarp, and branches, as well as the pulp and seeds. The present study assessed the changes in quercetin-3-O-glucuronide (Q3OG) and flavonol glycoside content using grape leaves from Vitis labruscana B. and V. coignetiae at different growth stages and provided basic data for quality control. Content analysis showed that both varieties differed in Q3OG and flavonol glycoside content by growth stage, and the components were found to be high in the order of fruit, maturation, and coloration. Also, Vitis labruscana B. has a better vascular relaxation effect than Vitis coignetiae. These results suggest that in the use of grape leaves as a functional raw material, Q3OG and flavonol glycosides can be used as indicator components. In addition, if raw materials for each growth stage are mixed in a particular ratio, it will be a way to manage the specific efficacy and content of indicator components.