• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.93-101
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• 2016

Purpose: McArdle disease, glycogen storage disease type V (GSD V), is one of the most common adolescent-onset glycogen storage diseases. It is caused by recessive mutations in PYGM encoding myophosphorylase, which is critical to glycogen metabolism. Since only a few korean patients have been reported, we will observe the clinical and genetic features of three korean patients with McArdle disease. Methods: We retrospectively reviewed the medical records of three patients with genetically confirmed McArdle disease, including the results of forearm ischemic exercise test, electromyogram, nerve conduction velocity, muscle biopsy, and PYGM analysis in peripheral leukocytes. Results: All three cases were males and their age of symptom onset was 12, 5, 14 years old, respectively. A high basal level of serum creatine kinase was noted in all three patients. They experienced the recurrent episodes of rhabdomyolysis, but second wind phenomenon was not definite. In muscle biopsy, subsarcolemmal space vacuoles including periodic acid schiff stained materials were found in two patients, while no evidence of glycogen storage disease was found in the other. A total of five different mutations, $p.Arg50^*$, p.Trp798Arg, $p.Arg50^*$, p.Glu779del, $p.Asp511Thrfs^*28$ and p.Phe710del, were found in three patients. Avoidance of isometric exercise, aerobic exercise and glucose intake before each exercise were recommended for all patients. Conclusion: The three Korean patients with McArdle disease showed the typical manifestations of the condition. The most mutations were private. Therefore, identification of more cases with long-term follow-up will be required to understand the clinical and genetic features of this disease among Korean population.

• Korean Journal of Poultry Science
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• v.12 no.1
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• pp.17-24
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• 1985

In order to investigate an effect of non-protein nitrogen on the biological utilization of protein, hatched single comb White Leghorn male chicks were fed for the first 8 days with a commercial chicks mash, next 6 days with protein-free diet and subsequent 6 days with protein-free diets and protein diets containing 10.59% of crude protein supplemented with 0, 0.5, 1.0 and 1.5%, respectively. During experimental feeding period, chicks fed protein-free diets had intaked gradually lower feed and had shown a similar body weight loss though urea contents were increased. When birds fed protein diets, body weight gain and feed intake were not different among birds fed the graded levels of urea although feed conversions were shown a highering tendency along with increasing urea contents. According as supplemented urea were increased, protein efficiency ratio f (PER) and net protein ratio (NPR) were increased in chicks fed protein-free diets, which were shown a lowering trend in chicks fed protein diets. Effect of supplemented urea on the urinary excretion of uric acid were not found in birds fed protein-free diets, while which were increased in birds fed protein diets with the increase of urea contents. Urea addition did not affect the excretion of total creatine in birds fed protein-free or protein diets. Excretion of ammonia was jogjered in order to increasing level of urea in birds fed protein-free diets, but which were not found any particular effect in birds fed protein diets. Also urea excretion were gradually increased with the increasing contents of urea in protein-free and protein diets. Nitrogen balance of birds fed protein-free diets were minus values, which were increased with increasing urea contents in diets. When birds fed protein diets, nitrogen balance and urinary nitrogen excretion was highered and fecal nitrogen excretion were not altered as urea levels of diets increased. Digestibility of urea nitrogen supplemented in protein-free diets were lowered along with increasing contents of urea, but biological value(BV) and net protein utilization(NPU) was found a highering tendency in birds fed protein-free diet containing 1.5% of urea. When birds fed with protein diets, digestibility, BV and NPU of protein were found a highering trend in birds fed protein diets added with 0.5% of urea.

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.137-142
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• 2005

Purpose : Acute poststreptococcal glomerulonephritis(APSGN) follows infection of group A$\beta$-hemolytic streptococci. The prognosis of APSGN has been reported as favorable. However, several studies have reported that some patients progress to chronic renal failure. In an attempt to clarify this, we analyzed the clinical course of patients with APSGN. Methods : Between January 2000 and December 2004, a total of 48 children who were diagnosed with APSGN according to the presence of hematuria, transient hypocomplementemia and evidence of group A $\beta$-hemolytic streptococcal infection were evaluated. Results : Six(12.5$\%$) patients showed elevation of serum creatinine level but there was no patient with Persistent renal dysfunction. Blood pressure was controlled with ease in all patients and there was no case of persistent hypertension. Renal biopsy was done in 5 patients who showed heavy proteinuria or renal insufficiency and the outcomes showed findings consistent with ordinary APSGN except one with findings of rapidly progressive glomerulonephritis(RPGN). Serum complement levels normalized within 8 weeks(92.9$\%$). Hematuria disappeared within 6 months(79$\%$) and proteinuria within 6 months(100$\%$) from the disease onset. Conclusion : Prolonged renal dysfunction or heavy proteinuria found in five patients(10.4$\%$) led to renal biopsy. All these problems resolved within 6 months. Our data support that the prognosis of childhood APSGN is favorable without any serious sequoia. (J Korean Soc Pediatr Nephrol 2005;9:137-142)

• Childhood Kidney Diseases
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• v.3 no.1
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• pp.72-79
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• 1999

Renal scarring associated with vesico-ureteral reflux(VUR) is one of the major causes of end stage renal failure and renal hypertension in children. Urinary ${\beta}_2$-microglobulin(MG) has been suggested as a potential marker for presence of renal tubular damage. This study was designed to evaluate the significance of random urine ${\beta}_2$-MG as a predictor of presence of vesico-ureteral reflux in children with urinary tract infection(UTI). 57 children with urinary tract infection were studied. Patients were devided into two groups; 35($78.9\%$) children have UTI without VUR and 12($21.1\%$) children have UTI and VUR. Beta2-MG and creatinine in random urine sample was measured to decide the excretion ratio(${\beta}_2$-MG/creatinine). Among the 57 children with UTI, 44 children were confirmed by urine culture study and 13 children suspected by compatible clinical feature. Random urine ${\beta}_2$-MG of VUR group ($2.2{\pm}5.91$ mg/L) were significantly higher than that of simple UTI group($0.19{\pm}0.16mg/L$)(P=0.03). The ${\beta}_2$-MG/creatinine ratio of VUR group($32.41{\pm}25.7$) were significantly higher than that of simple UTI group($3.93{\pm}3.44$)(P=0.007). In conclusion, random urine ${\beta}_2$-MG and excretion ratio deserved early predictor of presence of VUR in children with UTI. And this method was more simple and inexpensive than the method of measuring ${\beta}_2$-MG with 24 hour urine collection, so might be a useful screening test for VUR in children with UTI.

• Korean Journal of Poultry Science
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• v.18 no.2
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• pp.85-95
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• 1991

The investigation concerned an effect of the ground charcoal powder and organic acids on the digestibilities of protein and energy or the contents of uric acid, ammonia, creatine and urea in excreta of 113 week-old White Leghorn strain layers. Birds were fed basal (control) diet composed of mainly corn-soybean meal during a week of previous feeding and subsequent experimental diets during 12 weeks of experimental feeding . The experimental diets were the control diet(CON). diet(CPD) substituted 0.5% of the ground charcoal powder with the defatted rice bran of the CON, diet(PWV) added 0.1mM(based on the acetic acid) wood vinegar in the CPD and diet(PFA) added 0.1mM (based on the acetic acid) fermented acetic acid in the CPD. Birds fed CPD excreted significantly(P＜0.05) more fecal nitrogen(FN) and lower urinary nitrogen (UN) than those of birds fed CON. Digestibility of protein was lower significantly (P＜ 0.05) in CPB-fed bird than in bird fed CON. while birds fed CON. PWV and PFA showed similar values. Also urinary nitrogen per nitrogen intake (UN/NI) or absorbed nitrogen (UN/AN) was significantly (P＜0.05) lower in birds fed CPD compared with those in birds fed CON. And birds fed PWV tended to increase UN/NI and UN/AN, while PFA-fed birds excreted significantly (P＜0.05) higher UN/Nl and UN/Ah than those of birds fed CPD diet. The uric acid nitrogen (UAN) per nitrogen intake (UAN/NI) or absorbed nitrogen (UAN/AN) were lower significantly(P＜0.05) in CPD-fed birds and were tended to decrease in birds fed PWV compared with those in birds fed CON and PFA The ammoniacal nitrogen(AMN) per nitrogen intake (AMN/NI) or absorbed nitrogen (AMN/NI) was tended to increase in birds fed experimental diets and was increased significantly(P＜0.05) in birds fed PFA compared with those of birds fed CON. The excretion of creatine and urea nitrogen per nitrogen intake or absorbed nitrogen was shown similar values among birds fed experimental diets Digestibility of energy (DE/GE) was not shown any significant effect of experimental diet and were in the range of 80~84%. But metabolizability (ME/GE or MEn/GE) was increased in birds fed CPD and PWV and was decreased in birds fed PFA compared with those in birds fed CON. Although birds fed PWV showed significantly(P＜0.05) higher ME/GE than bird fed PFA, the MEn/GE were higher significantly (P＜0.05) in birds fed CON and CPD compared with that in birds fed PFA. Fecal energy affects 10~23% in the change of metabolizability though significant effect of fecal energy on the metabolizability were not found. But the effect of urinary energy on the metabolizability of diet was lowered as 2.3~3, 0% and the effect of experimental diets on the metabolizability of diets was due to change of urinary energy which also was originated from the change of uric acid energy.

• Journal of the Korean Applied Science and Technology
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• v.36 no.3
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• pp.1028-1040
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• 2019

The current study was performed to investigate the magnitude of exercise-induced muscle damage (EIMD) after downhill running (DR) of different intensities and to examine the availability of muscle echo intensity as biomarkers to detect regional damage within quadriceps muscle group (QG) following DR. Healthy college-age men (n=11) were experienced twice DR sessions [$50%HR_{max}$ DR, LDR; $70%HR_{max}$ DR, HDR] separated by a 2-week wash-out period with the random order. After DR, severity of EIMD according to exercise intensity were determined by serum creatine kinase (CK) activity, muscle tenderness, and neuromuscular function indicators such as a maximal voluntary isometric contraction (MVIC) and range of motion (ROM). Transvaginal B-mode imaging had been employed to evaluate regional muscle echo intensity within QG [rectus femoris, RF; vastus lateralis, VL; vastus medialis, VM; vastus intermedius, VI]. After both DR sessions, changes in serum CK activity and muscle tenderness have tended to more increase in HDR compared to those of LDR. There was a significant interaction effect between exercise intensity during DR and the time course of serum CK activity(p<.05). However, there were no statistical differences between sessions in muscle tenderness. The time course of changes in the neuromuscular functions after DR were similar to those of regional muscle echo intensity regardless exercise intensity. Although neuromuscular function showed to decline in HDR more than those of LDR after DR, no statistical differences between sessions. In contrast, there were significant interaction effects between sessions and time course of changes in RF and VL muscle echo intensity(p<.01), but not shown in those of VI and VM. These results indicated that each muscles within the QG show different response profiles for EIMD during DR, exercise intensity influences on these responses as well. In particular, current findings suggested that muscle echo intensity derived from ultrasound imaging is capable of detecting regional muscle damage in QG following DR.

• Journal of Life Science
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• v.31 no.3
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• pp.257-265
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• 2021

Heterotrimeric kinesin-2 is a molecular motor protein of the kinesin superfamily (KIF) that moves along a microtubule plus-end directed motor protein. It consists of three different motor subunits (KIF3A, KIF3B, and KIF3C) and a kinesin-associated protein 3 (KAP3) that form a heterotrimeric complex. Heterotrimeric kinesin-2 interacts with many different binding proteins through the cargo-binding domain of the KIF3s. The activity of heterotrimeric kinesin-2 is regulated to ensure that the cargo is directed to the right place at the right time. How this regulation occurs, however, remains in question. To identify the regulatory proteins for heterotrimeric kinesin-2, we performed yeast two-hybrid screening and found a specific interaction with creatine kinase B (CKB), which is the brain isoform of cytosolic creatine kinase enzyme. CKB bound to the cargo-binding domain of KIF3A but did not interact with the KIF3B, KIF5B, or KAP3 in the yeast two-hybrid assay. The carboxyl (C)-terminal region of CKB is essential for the interaction with KIF3A. Another protein kinase, CaMKIIa, interacted with KIF3A, but GSK3a did not interact with KIF3A in the yeast two-hybrid assay. KIF3A interacted with GST-CKB-C but not with GSK-CKB-N or GST alone. When co-expressed in HEK-293T cells, CKB co-localized with KIF3A and co-immunoprecipitated with KIF3A and KIF3B but not KIF5B. These results suggest that the CKB-KIF3A interaction may regulate the cargo transport of heterotrimeric kinesin-2 under energy-compromised conditions in cells.

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.222-230
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• 2005

Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

• Korean Journal of Poultry Science
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• v.39 no.2
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• pp.87-95
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• 2012

This experiment was conducted to investigate the effects of varying levels of metabolizable energy (ME) and crude protein (CP) on growth performance and carcass characteristics in layer-type growing male chicks. Nine hundred 1-d-old Hy-Line Brown male chicks were randomly allocated to 30 pens in a $2{\times}3$ factorial design. The experimental diets contained 2 levels of ME (2,800 kcal/kg and 2,950 kcal/kg) in combination with 3 levels of CP (17%, 18.5%, and, 20%). A significant interaction of ME and CP on feed intake was observed (p<0.05). No interaction was observed between ME and CP for 53 d BW gain or FCR, which improved linearly with dietary CP levels (p<0.05). A significant interaction or tendency was observed between ME and CP levels. The intake of ME for 1 g BW gain was linearly decreased with increasing CP levels (p<0.001). The intake of CP per bird was significantly increased in low ME (2,800 kcal/kg) treatment than that of the high ME treatment (2,950 kcal/kg) (p<0.05), and dietary CP level had more influence on CP intake for gram BW gain than level of ME. The relative weights of liver, spleen, breast meat and, leg were not influenced by the dietary treatments. Serum BUN, albumin, creatinine, and the activities of GOT and GPT were not influenced significantly by the diet treatment. In conclusion, the growth performance in layer-type male chicks was linearly increased when the level of dietary CP increased. The ME and CP did not affect the carcass characteristics and blood profiles. Therefore, the optimum levels of dietary ME and CP to improve the growth were 2,800 kcal/kg and above 18.5% in layer-type growing male chicks, respectively.