• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.92-95
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• 2017

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

• Childhood Kidney Diseases
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• v.3 no.1
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• pp.88-94
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• 1999

Purpose : Malformation of urinary tract is among the most common of all congenital anomalies and can progress to irreversible renal damage before diagnosis due to difficulty of early diagnosis. Present study was undertaken to determine the clinical characteristics of urinary tract anomaly and to find out the most appropriate diagnostic and therapeutic measures for children with these anomalies. Methods : During the past 10 years from 1987 to 1998, review of medical records revealed 65 children with congenital anomaly of urinary tract and the following results were obtained. Results : The most common anomalies were ureteropelvic junction obstruction occuring in 26 cases ($36\%$), followed by ureteral duplication in 11 cases, renal agenesis in 10 cases and ureterovesical function obstruction in 7 cases. Complex anomaly of urinary tract was found in 8 cases and anomaly of other systems such as congenital heart disease was detected in 11 cases. The most frequent age group at the time of diagnosis was below 1 year of age constituting 39 cases ($60\%$) and male preponderance was noted as male to female ratio being 2.25:1. Presenting symptoms were urinary tract infection in 25 cases, followed by hematuria, abdominal mass, abdominal pain and voiding difficulty, etc, and in 11 cases, the anomaly was picked up by routine prenatal ultrasonography. Azotemia was noted in 9 cases and the underlying anomaly was obstructive uropathy in 4 out of these 9 cases. Surgical correction was undertaken in 38 cases (most frequently in cases of obstructive uropathy) and in 2 out off cases with obstructive uropathy in whom surgical correction was done, azotemia disappeared during follow up period of 1-5years. No new cases of deteriorating renal function appeared during follow-up period. Conclusion : In spite of high incidence of congenital malformation of urinary tract, early diagnosis is still hampered by nonspecific symptoms and signs. Therefore, in patients with symptoms such as urinary tract infection, abdominal pain and voiding problems, etc, it Is advisable to take various diagnostic tests promptly to pick up any urinary tract anomaly and to apply proper therapy in order to avoid progression to irreversible renal damage. In this regard, prenatal ultrasonography should be utilized more widely as a routine procedure to detect any urinary tract anomalies before birth.

• Journal of Chest Surgery
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• v.38 no.11 s.256
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• pp.739-745
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• 2005

Background: The Maze procedure considered the most effective method of treatment for atrial fibrillation. However, the sinus conversion rates decreased due to several factors, especially enlarged left atrium. The purpose of this study was to investigate the effects of Maze procedure with aen atrial volume reduction plasty on rheumatic mitral valve disease, Material and Method: From December of 200f to July of 2004, 45 patients received mitral valve and Maze operation. The patients were placed in either group f or group 2, based on the left atrial volume reduction plasty. The presence and onset of sinus rhythm and the incidence of trans mitral A waves were monitored during the postoperative 7 days and throughout the follow up period of 3 and 6 months. Mean follow up periods were 15.8 10.1 months in group 1 and $6.1\pm2.7$ months in group 2. Result: The sinus onset were $9.88\pm12.2$ days in group 1, and $1\pm3.6$ days in group 2 (p<0.01). The sinus conversion rates in the group 1 and 2 were $65\%,\;75\%$ (p=0.07) in the postoperative 7 days, $70.5\%,\;100\%$ (p<0.01) at postoperative 3 months, and $93\%,\;100\%$ (p<0.01) at postoperative 6 months, respectively. The wave detection rates in the postoperative 7days were $31.2\%\;and\;63.6\%$, and continued to improve over time to $83.3\%\;and\;100\%$ by 6months, respectively. Conclusion: The results suggest that Maze procedure with left atrial volume reduction plasty is effective for inducing sinus rhythm and for restoring left atrial contractile function after concomitant rheumatic mitral valve surgery. However further follow up of this patients for long time is necessary.

• The Korean Journal of Pharmacology
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• v.23 no.2
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• pp.123-131
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• 1987

The possible inolvement of central opiate system in the control of cardiovascular function and in the antihypertensive action of clonidine has been examined in unanesthetized rats with shamoperated or 2-kidney, 1-clip (2K1C) renal hypertension. In both groups of rats, intraventricular clonidine $(3-30\;{\mu}g/kg)$ produced hypotension and bradycardia. Hypotensive action of clonidine was more potent in the hypertensive rats than in the normotensive sham-operated rats. Yohimbine $(30\;{\mu}g/kg,\;i.v.t.)$ inhibited the hypotension and bradycardia produced by clonidine. Naloxone ($50\;{\mu}g/kg$, i.v.t.) inhibited the action of clonidine in 2K1C hypertensive rats but not influenced in the sham-operated rats. Intraventricular morphine $(10-100\;{\mu}g/kg)$ also reduced rats. Intraventricular morphine $(10-100\;{\mu}g/kg)$ also reduced blood pressure and heart rate in both groups of rats. But these effects were not affected by yohimbine, but antagonized by naloxone ($50\;{\mu}g/kg$, i.v.t.). Chronic treatment of 2K1C rats with clonidine ($3{\times}20\;{\mu}g/kg$, p.o.,) for 14 days from 1 day after 2K1C operation) suppressed the development of hypertension and maintained the blood pressure in normal level and this errect of clonidine was abolished by naloxone (2 mg/kg, i. p.). In the 2K1C hypertensive rats, immunoreactive ${\beta}-endorphin$ content was significantly decreased, but maximum binding (Bmax) of $(^3H)-naloxone$ was significantly increased in brain of 2K1C hypertensive rats. However, Kd value was not changed. These results suggest that the opioidergic component might be involved in the antihypertensive action of clonidine only in hypertensive and that central opiate system might play important roles in pathophysiology of development and maintenance of hypertension.

• Journal of Life Science
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• v.20 no.3
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• pp.437-443
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• 2010

This study was designed to examine the aerobic capacity and ventilatory response during an incremental exercise in elite high school cyclists. Twelve boys ($17{\pm}1\;yr$, $175{\pm}5\;cm$, $70{\pm}9\;kg$) participated in anthropometric measurements, incremental exercise testing, and pulmonary function tests. During incremental exercise testing using a cycle ergometer, their maximal oxygen uptake ($VO_2max$), maximal power output, ventilation, ventilatory equivalents for oxygen ($V_E/VO_2$) and carbon dioxide ($V_E/VCO_2$), respiratory rate, and tidal volume were measured. Time variables such as inspiratory time (Ti), expiratory time (Te), breathing time (Tb), and inspiratory duty cycle (Ti/Tb), as well as inspiratory flow rate ($V_T$/Ti) were assessed. Pulmonary function of vital capacity (FVC), forced expiratory volume in one second ($FEV_1$), $FEV_1$/FVC, and peak expiratory flow were evaluated. Their $VO_2max$, maximal heart rate, and Wmax were $57.5{\pm}3.9\;ml{\cdot}kg^{-1}{\cdot}min^{-1}$, $194.1{\pm}8.6\;beat{\cdot}min^{-1}$, and 452 W, respectively. $VO_2max$ was not related to any anthropometric parameters. Most ventilatory variables progressively increased with exercise intensity. As intensity increased, Ti, Tb, Tb decreased while Ti/Tb was maintained. Below an intensity of 250 W, height, weight, body mass index, and body surface were highly correlated with $V_T$/Ti and Ti/Tb (p<0.05). Collectively, $VO_2max$ appeared to be lower than adult cyclists, suggesting a different pattern of ventilatory control as age advances. Morphological characteristics were not related to $VO_2max$ in the population. Time variables of ventilatory response seemed to be related only at an exercise intensity level of less than 250 W. $V_T$/Ti may be related to exercise endurance capacity, but Ti/Tb was similar to adult cyclists.

• Sleep Medicine and Psychophysiology
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• v.11 no.1
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• pp.29-36
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• 2004

Objectives: Sound and light (SL) stimulation has been used as a method to induce some useful mental states in the fields of psychology and psychiatry. It is believed that sound and light entrainment device (SLED) has some specific effects through synchronization of EEG in patients who use it. Theta frequency is believed to stimulate deep relaxation and short term memory processing. This study was conducted to evaluate if 4-10 Hz SL stimulation can induce relaxation and improve short term memory function. Methods: Ten medical students with no medical or psychiatric problems participated in this study. Subjects were randomly divided into two groups. One group was applied with real SLED was applied to one group (R group) and pseudo SLED to the other group (P group). The two groups were exposed to SL stimulation with SLED 15 minutes a day for 5 days, and after two days rest the two groups were switched over. The Korean Wechsler Adult Intelligence Scale (K-WAIS), Academic Motivation Tests (AMT), Test Anxiety Scale (TAS), Korean Auditory Verbal Learning Test (K-AVLT), and digit span were used to evaluate short term memory. Spielberger's State-Trait anxiety inventory and heart rate variability (HRV) test were used to evaluate degree of relaxation. Results: Compared with S group, R group showed a significant improvement in K-AVLT and digit span after a single application of SL stimulation. But 5-day long application did not reveal any differences between the two groups. A significant change in HRV was observed in 5-day long application of SL stimulation after being switched over to other SLED. Conclusion: This pilot study suggests that 4-10 Hz SL stimulation has some positive influences on short term memory and relaxation.

• The Korean Journal of Nuclear Medicine
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• v.37 no.4
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• pp.254-259
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• 2003

$^{99m}Tc-galactosyl$ human serum albumin (Tc-GSA) is a radiopharmaceutical that binds to asialoglycoprotein receptors, which are specifically present in the hepatocyte membrane. Because these receptors are decreased in hepatic parenchymal damage, the degree of Tc-GSA accumulation in the liver correlates with findings of liver function test. Hepatic images were performed with Tc-GSA in patients with acute hepatic dysfunction by Amantia Subjunquillea poisoning, and compared with these of liver ultrasonography (USG). Tc-GSA (185 MBq, 3 mg of GSA) was injected intravenously, and dynamic images were recorded for 30 minutes. Time-activity curves for the heart and liver were generated from regions of interest for the whole liver and precordium. Degree of hepatic uptake and clearance rate of Tc-GSA were generated by visual interpretation and semiquantitative analysis parameters (receptor index : LHL15 and index of blood clearance : HH15). Visual assessment of GSA scintigraphy revealed mildly decreased liver uptake in all of subjects. The mean LHL15 and HH15 were 0.886 and 0.621, graded as mild dysfunction in 2, and mild to moderate dysfunction in 1 subject. In contrast, liver USG showed no remarkable changes of hepatic parenchyme. Tc-GSA scintigraphy was considered as a useful imaging modality in the assessment of the hepatic dysfunction.

• Korean Journal of Microbiology
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• v.38 no.3
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• pp.153-161
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• 2002

Sox4, a transcription factor, consists of three functional domains: an HMG-box domain as a DNA binding domain, serine rich region as a transactivation domain and glycine rich region (GRR), an unknown functional domain. Although Sox4 is known to be functionally involved in heart, B-cell and reproductive system development, its physiological function remains to be elucidated. We used pGEX expression system to develop a simple and rapid method for purifying Sox4 protein in suitable forms for biochemical studies of their functions. Unexpectedly, we observed that full-length Sox4 appears to be protease-sensitive during expression and purification in E. coli. To map the protease-sensitive site in Sox4, we generated various constructs with each of functional domains of Sox4 and purified as the GST-Sox4 fusion proteins using glutathione beads. We found that the specific cleavage site for the proteolytic enzyme, which exists in E. coli, is localized within the novel GRR of Sox4. Our study suggest that the GRR of Sox4 may a target for the cellular protease action and this cleavage in the GRR may be involved in regulating physiological function of Sox4. Additionally, our study may provide a useful method for investigating the proteolytic cleavage of the target molecule in E. coli.

• Journal of Ginseng Research
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• v.48 no.5
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• pp.504-510
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• 2024

Background: As a physiological function of body, immunity can maintain health by identifying itself and excluding others. With economic development and increasingly fierce social competition, the number of sub-healthy population is gradually increasing, and the most basic problem exposed is human hypoimmunity. Hypoimmunity can be manifested as often feeling tired, catching colds, mental depression, etc. In order to enhance immunity, eating healthy foods with the effect of enhancing immunity may become an effective choice. KRG has pharmacological effects of enhancing immunity. Because the screening and evaluation method of immune population are not unified, there are relatively few KRG immunity tests for sub-health population. It is of great significance to study the effect of KRG on people with hypoimmunity to improve sub-health status. Methods: This was a 180-day, randomized, double-blind, placebo-controlled clinical trial. According to the trial scheme design, 119 qualified subjects were included and randomly divided into the test group taking KRG and the placebo control group. Subjects need to check safety indicators (blood pressure and heart rate, blood routine, liver and kidney function, urine routine and stool routine) and efficacy indicators (main and secondary) inspection at baseline, efficacy indicators inspection during the mid-term of the test (90th days of administration), safety and efficacy indicators inspection after the test (180th days of administration). Results: After the test, the safety indicators of placebo control group and KRG test group were basically within the normal range, and there is no significant difference in fireness score between the two groups. Through follow-up interviews, it was found that the subjects in the test group and the control group had no adverse reactions and allergic reactions such as nausea, flatulence, diarrhea, and abdominal pain during the test period. Self-comparison of the test group, the results of the main efficacy indicators: (1) immune related health scores were significantly improved in the mid-term and after the test (P < 0.01), (2) CD3 and CD4/CD8 increased significantly after the test (P < 0.05), (3) IgG, IgA, IgM and WBC increased significantly in the mid-term and after the test (P < 0.01); the results of the secondary efficacy indicators: (1) TNF-α decreased significantly in the midterm (P < 0.05), IFN-γ decreased significantly in the mid-term (P < 0.01), (2) NK increased significantly in the mid-term and after the test (P < 0.05), (3) monocyte increased significantly in the mid-term and after the test (P < 0.01). Inter-group comparison of the test group and the control group, the results of the main efficacy indicators: (1) immune related health scores were higher than that of the control group in the mid-term and after the test (P < 0.01), (2) IgA of the test group was higher than that of the control group in the mid-term and after the test (P < 0.05); the results of the secondary efficacy indicators: (1) WBC of the test group was higher than that of the control group in the mid-term (P < 0.05); (2) monocytes of the test group were higher than that of the control group in the mid-term and after the test (P < 0.05), neutrophils of the test group were higher than that of the control group in the mid-term (P < 0.05). Conclusion: Taking KRG has no adverse effects on the health of the subjects. According to the standard of clinical trial scheme, the immune related health scores and IgA in the main efficacy indicators were positive, which shows that KRG is helpful in enhancing human immunity.

• The Korean Journal of Physiology
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• v.19 no.1
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• pp.61-72
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• 1985

In order to compare the cardiac function of various groups of athletes, the resting electrocardiographic time intervals, amplitudes and vectors were analyzed in high school athletes of throwing(n=7), jumping(n=11), short track(n=8), long track(n=14), boxing(n=7), volleyball(n=8) and baseball(n=9), and nonathletic control students(n= 19). All athletic groups showed a significantly longer R-R interval(0.96-1.09 sec) than the controls (0.78 sec). Therefore, the heart rate was significantly slower in atheletes than in the control, but was not different among the different athletic groups. R-R interval is the sum of intervals of P-R, 0-T and T-P: P-R and Q-T intervals showed no difference among the control and athletic groups, but T-P interval in the jump, short track, long track and boxing groups was significantly higher than the control. R-B interval showed a significant correlation with T-P or Q-T intervals but no correlation with P-R or QRS complex. Comparing the amplitude of electrocardiographic waves, the athletic groups showed a lower trend in P wave than the controls. T wave in lead $V_5\;(Tv_5)$ was similar in the athletic and control groups. The long track group showed a significantly higher waves of $Rv_5$, $Sv_1$, and the sum of $Rv_5$ and $Sv_1$ than not only the controls but also the other athletic group. The angles of P, QRS, and T vector in the frontal and horizontal planes were not different among the control and all the athletic groups. Each athletic group stowed a lower trend in amplitude of P vector in the frontal plane, but in horizontal plane, throwing, jump, short track and baseball groups showed a significantly lower than the controls. The amplitude of QRS and T vector was similar in the athletic and control groups, but only the baseball group showed a significantly higher QRS vector in the frontal plane. In taken together, all the athletic groups showed a slower heart rate than the controls, mainly because of elongated T-P interval. Comparing the electrocardiographic waves and vector, the athletic groups showed lower amplitudes of P wave and P vector than the controls. Values of $Rv_5$ and $Sv_1$ strongly suggest that only the long distance runners among the various athletic groups developed a left ventricular hypertrophy.