• Journal of Genetic Medicine
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• v.5 no.1
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• pp.26-33
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• 2008

Purpose : Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. Methods : DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). Results : We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of $BH_4$ responsive patients were analyzed and were divided into two groups: $BH_4$ medication-only group and $BH_4$ medication with diet therapy group. In the $BH_4$ medication-only group and $BH_4$ medication with diet therapy group, R241C was the most common mutation. Conclusion : Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.

• Clinical and Experimental Pediatrics
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• v.49 no.8
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• pp.882-888
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• 2006

Purpose : Bacteremia is one of the major concerns in the treatment of pediatric cancer patients. This study was to determine the etiologic agents and the pattern of antibiotic susceptibilities in a single tertiary medical center. Methods : We retrospectively reviewed the medical records of the cases of bacteremia in pediatric cancer patients from 1998 to 2005 in Keimyung University Dongsan Medical Center. Results : There were 62 cases of bacteremia from 44 patients. Gram-positive organisms(48.3%) were more common than gram-negative organisms(38.7%) or fungi(13%). Among gram-positive organisms, Staphylococcus epidermidis was the most common etiologic agent(63.3%), followed by Staphylococcus aureus(16.7%), ${\alpha}$-hemolytic Streptococcus(16.7%), and Streptococcus mitis(3.3%). Among gram-negative organisms, Alcaligenes xylosoxidans was the most common agent(41.7%) and the other organisms were Klebsiella pneumoniae(20.8%), Stenotrophomonas maltophilia(12.5%), Acinetobacter baumanii(8.2%), etc. In febrile neutropenic patients, however, K. pneumoniae was the most common cause of gram-negative bacteremia. All of the isolated K. pneumoniae in our center produced extended-spectrum beta-lactamase and were related with high mortality. S. aureus, S. epidermidis, and Streptococcus species were all susceptible to vancomycin and teicoplanin. Most staphylococci were resistant to penicillin and oxacillin. Most of the gram-negative organisms were susceptible to imipenem. Conclusion : Gram-positive organisms were more commonly isolated than gram-negative organisms in pediatric cancer patients like other studies. We could obtained valuable information on the choice of proper antibiotics in our institution. Further studies will be needed to explain the prevalence of A. xylosoxidans in our center.

• Clinical and Experimental Pediatrics
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• v.45 no.8
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• pp.1007-1015
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• 2002

Purpose : The aim of this study is to find a method to diagnose and treat children who showed benign hemophagocytic histiocytes in bone marrow examination. Methods : We analyzed the clinical data of thirty patients retrospectively who showed benign hemophagocytic histiocytes in bone marrow examination from January 1995 to November 2001 at Keimyung University Dong-san Hospital. Bone marrow histiocytes were classified into a few, some, and many according to the number of histiocytes comparing with the white cells. Results : The age of thirty patients ranged from two months to 15 years. The median age was 5.6 years with male predominance(2.3 : 1). The most frequent clinical manifestation was fever; others were respiratory symptom, hepatosplenomegaly, lymphadenopathy and skin rash(in order of frequency). Common laboratory findings were leukopenia, thrombocytopenia, anemia and abnormal liver function test. Infection was present in 30 patients; causative organisms were documented in 15 patients, and bacterial infection was more common. Epstein Barr virus was the cause of infection in four patients. Bone marrow examination showed a few(20.0%), some(75.0%) and many(30.0%) hemophagocytic histiocytes. Combination immunochemotherapy including immunoglobulin, steroids and cyclosporine were helpful in 22 out of 30 patients. The mortality rate was high in young patients who showed some to many hemophagocytic histiocytes. Conclusion : Bone marrow examinations and early detection of histiocytes will be helpful in children who have fever, hepatosplenomegaly and abnormal liver function test. Immunochemotherapy were helpful and further investigation will be needed for the detection of the relationship between the bone marrow findings and prognosis.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1114-1119
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• 2002

Purpose : The purposes of this study were to determine short- and long-term fractal correlation behavior of heart rates during daily activity in patients with neurocardiogenic syncope. Methods : Twenty five patients with histories of neurocardiogenic syncope episodes were included. Their analogue 24h ambulatory Holter electrocardiograms were analyzed. The tape was digitized and the digitized electrocardiograms were partioned into sections of one hour. Then their RR intervals were measured and 20,000 points of RRI were used. To quantify the fractal correlation behavior, we employed the detrended fluctuation analysis, and short-term($n{\leq}16$, ${\alpha}_1$) and long-term(n>16, ${\alpha}_2$) fractal scaling exponents were calculated. Results : When compared to control, 24-hour average values of ${\alpha}_1$ and all ${\alpha}_1$ values at quarters of each day were significantly higher in patients with syncope. On the contrary, their 24-hour average value of ${\alpha}_2$ and all ${\alpha}_2$ values at quarters of each day were lower in patients with syncope. However, statistical significances were found in 24-hour average value of ${\alpha}_2$ and in ${\alpha}_2$ value at MN-6AM. Conclusion : In the syncope patients with neurocardiogenic syncope, short-term fractal scaling exponents of RR interval was significantly high throughout the day. Therefore, their RR intervals were smoother in the short term scale and had a tendency to continue in the same direction of increase or decrease, which may contribute to persistent decrease in heart rate during a syncopal attack.

• Clinical and Experimental Pediatrics
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• v.46 no.11
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• pp.1061-1066
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• 2003

Purpose : The rising prevalence of childhood obesity may be due to an energy imbalance between food intake and energy expenditure. Recently, consumption of beverages in children has increased. The aim of this study is to provide useful information for the prevention and the control of childhood obesity by assessment of variable beverage consumption. Methods : Fight hundred seventy seven children(M : F=1 : 1.02, mean age; 9.7 years) from two primary schools in Seoul in May 2003 were enrolled. Body mass index(BMI) was calculated and the degree of obesity was classified into normal, overweight and obese groups by BMI percentile. Parental BMI, socio-economic factor, 3-day dietary intake, calory intake and beverage intake were examined by questionnaires. We researched beverages and classified them into six categories, milk, other milk products, soda, sports beverage, other beverage. Results : The prevalence of obesity was 7.2%. The parental BMI of the obese group were higher than those of the other groups. There was no significant difference in birth weight, or parents' intellectual and economic levels between the obese group and the other groups. There was no significant difference in daily total calory intake between the obese group and the other groups. The obese group of 7-9 year-old-males was higher than the other groups in sodas, and sports beverages intake. The obese group of 10-12 year-old-males was higher than the other groups in total beverage intake and other beverage intakes. The obese group of 10-12 year-old-females was higher than the other groups in other milk products. Conclusion : Excessive intake of beverages is associated with childhood obesity. Efforts to decrease intake of beverages may be important approaches to counter the rise in the prevalence of obesity.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.75-80
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• 2009

Purpose : In adults, valproate (VPA) has been reported to be associated with thrombocytopenia. However, few studies have investigated this association in children, and the factors affecting platelet counts remain controversial. This study was undertaken to investigate changes in platelet counts following VPA therapy and related factors in children with epilepsy. Methods : Our subjects comprised 75 epileptic children who had received VPA monotherapy for at least 1 year between January 2000 and December 2005. We regularly examined platelet counts at intervals of 6 to 12 months after baseline platelet counts before VPA treatment. We analyzed changes in platelet counts according to several factors such as sex, seizure type, underlying causes of epilepsy, age at the start of medication as well as at the last follow up, duration of VPA administration, VPA dose, serum VPA level, and body weight at the last follow up. Results : Overall, the platelet counts decreased significantly after VPA therapy. The average baseline platelet count was $312.5{\pm}109.1{\times}10^6/mL$. At the last follow up, the average platelet count was $261.7{\pm}72.2{\times}10^6/mL$. We observed the relationship between platelet counts and serum levels of VPA; while children with serum VPA <$75{\mu}g/mL$ showed no change in platelet counts (P=0.102), children with serum VPA >$75{\mu}g/mL$ showed a significant decrease in platelet counts. Conclusion : VPA may cause a significantly decreased platelet count in children with epilepsy. High serum VPA levels were associated with development of thrombocytopenia.

• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.468-473
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• 2008

Purpose : Iron-deficiency anemia (IDA) is still one of the most common nutrient deficiency disorders, despite improvements in general health and nutrition. This study was designed to investigate the diagnostic values of hematological profiles, including the level of ferritin, and to evaluate the knowledge of mothers on weaning practices for infants and young children with IDA. Methods : This study was conducted on 111 infants and young children from six to 40 months of age with IDA. Their parents completed a questionnaire. IDA was defined as a level of hemoglobin <11.0 g/dL, the presence of microcytosis, a level of ferritin <10.0 ng/dL, transferrin saturation <15%, or an 1 g/dL increase in the level of hemoglobin after iron administration. The questionnaire made inquiries into their weaning practices. Results : In 111 infants and young children aged from six to 40 months, the average level of Hb was $9.5{\pm}1.0g/dL$. The prevalence of ferritin level (>10 ng/dL) was 48.6%, in spite of IDA. Seventy-four infants (66.7%) began to wean between four and six months, and 37 infants (33.3%) after seven months of age. The main food given after weaning was rice gruel. The weaning periods showed a significant relationship to the severity of anemia (P<0.05). There was no significant difference in the severity of anemia in terms of the educational levels of the mothers. Fifty-five mothers (49.5%) gave a wrong answer to a questionnaire describing that breast-fed infants aged over four months need to be fed with iron-sufficient food. Of all mothers, 49.6% took one month or more to complete the weaning process and 20% took three months or more. Conclusion : Many infants and young children with IDA have been provided with non-iron fortified foods and inadequate weaning. To improve nutritional status, especially among infants with iron deficiencies, nutritional education for mothers with infants at the weaning age must be increased and related programs must be implemented effectively.

• Clinical and Experimental Pediatrics
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• v.50 no.5
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• pp.457-461
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• 2007

Purpose : Urinary tract infection (UTI) is a common bacterial infectious disease in childhood. Especially UTI in infant and young children is associated with urinary tract anomalies such as hydronephrosis, vesicoureteral reflux. The aim of this study was to compare the clinical and laboratory characteristics, and uroradiologic findings of UTI caused by pathogens other than E. coli with UTI caused by E. coli in infant and young children. Methods : We retrospectively reviewed medical records of 170 infants and children, who had been admitted for UTI to Il Sin Christian Hospital from January 2003 to December 2005. All patients were divided into two groups; E. coli and non-E. coli UTI, and they were compared for demographic data, clinical data (degree and duration of fever, time to defervescence, and length of hospital stay), underlying urinary tract anomalies (by history and ultrasonography), recurrent infection (by history and past medical records), and laboratory data [urinalysis, white blood cells (WBC) count in peripheral blood, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and serum creatinine level]. Results : Of the 170 UTI patients, the number of non-E. coli UTI was 114 (67.1%) and E. coli UTI was 56 (32.9%). As compared to E. coli group, non-E. coli group was younger in age ($0.52{\pm}0.59years$ vs $0.84{\pm}1.39years$, P<0.05), had higher rates of urinary tract anomalies [n=46 (82.1%) vs n=53 (46.5%), P<0.001], higher recurrence rate, shorter time to defervescence, less peripheral blood WBC count, lower level of CRP, lower level of ESR. Conclusion : The characteristics of non-E. coli UTI compared to E. coli UTI was younger age, milder clinical symptoms and signs, higher rates of urinary tract anomalies and higher recurrence rate.

• Clinical and Experimental Pediatrics
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• v.51 no.9
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• pp.950-955
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• 2008

Purpose : The objective of this study was to provide current estimates of the prevalence and examine trends of overweight and obesity in children and adolescents. Methods : Height and weight measurements from 183,159 (112,974 in 1997, 70,185 in 2005) children and adolescents aged 2 to 18 years were obtained via the 1997 and 2005 National Growth Survey. Obesity among children and adolescents was defined as being at or above the 95th percentile of the gender-specific body mass index (BMI) for age in the 2007 Korean National Growth Charts or a BMI of 25 or higher; overweight was defined as being at or above the 85th percentile to less than the 95th percentile BMI. Results : In 2005, 9.7% (11.3% for boys, 8.0% for girls) of South Korean children and adolescents were obese; 19.0% (19.7% for boys, 18.2% for girls) were overweight or obese. The overall prevalence of obesity increased from 5.8% in 1997 to 9.7% in 2005 (from 6.1% in 1997 to 11.3% in 2005 for boys and from 5.5% in 1997 to 8.0% in 2005 for girls); the increasing trend was most evident in boys, especially those aged 13-18 years. Conclusion : The prevalence of obesity among children and adolescents increased significantly during the eight-year period from 1997 to 2005. This study suggests that we need to make a priority of developing strategies to control obesity in children and adolescents; the potential health effects of increases in obesity are of considerable public health importance.

• Journal of Plant Biotechnology
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• v.36 no.1
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• pp.30-37
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• 2009

Tissue-type plasminogen activator (t-PA) is a thrombolytic agent important in fibirn clot lysis. T-PA causes fibirn-specific plasminogen activation. Six binary vectors harboring t-PA and its derivative genes were cloned and expressed in transgenic alfalfa plants. The insertion of the t-PA and its derivative genes in genomic DNA of alfalfa plants was confirmed by PCR. The presence of the t-PA and its derivative transcripts in total RNAs of the transgenic alfalfa leaves was verified by RT-PCR. ELISA experiments demonstrated that the highest level of recombinant t-PA expression was $75.1{\mu}g$/ total soluble protein (mg) in alfalfa plants. The amount of recombinant t-PA and its derivative proteins in transgenic plants was estimated to range from 9.7 to $39.5{\mu}g$/ total soluble proteins (mg). Western blot analysis of the transformed alfalfa leaves revealed bands of approximately 68-kDa recombinant t-PA and its derivative proteins. The fibrinolysis of recombinant t-PA and its derivative proteins was confirmed by a fibrin plate assay (range from 3.2 to 8.1 cm). The results presented provide information for the development of an additional production of recombinant human proteins having pharmaceutical applications using transgenic plants.