• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1263-1272
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• 2002

Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1213-1218
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• 2002

Purpose : Hydronephrosis constitutes a great portion of fetal anomalies screened by prenatal sonogram. The present authors made an attempt to access its natural courses through follow up neonatal hydronephrosis diagnosed by prenatal sonogram. Methods : The study was composed of 23 neonates(36 renal units) who were diagnosed with hydronephrosis through prenatal sonogram screening and confirmed 3-7 days after birth with sonographic evaluation at Kyung Hee University Hospital. The neonates were closely monitored for 12-24 months with renal sonogram, diuretic renogram, intravenous pyelography(IVP) and voiding cystoureterography(VCUG). Results : The underlying diseases were composed of 16 cases(44%) of functional abnormalities, 14 cases(39%) of ureteropelvic junction(UPJ) obstruction, three cases(8%) of vesicoureteral reflux (VUR) and on case each of multicystic dysplastic kidney, UPJ obstruction with ureteral stenosis and ureterovesical junction(UVJ) obstruction with VUR. The degree of hydronephrosis was divided into three classes according to its severity. In 30 renal units with UPJ obstruction and functional abnormalities, 26(87%) showed mild hydronephrosis, while four(13%) were moderate. During the follow up period, six cases(20%) showed natural resolution of hydronephrosis, 15 cases(50%) showed improvement while two cases(7%) were aggravated with improvement only after surgery of the underlying disease. The cases which showed natural resolution were all mild hydronephrosis at diagnosis and the cases which underwent surgery due to continuous aggravation were mild one case and moderate one case. Conclusion : Those with cases of mild hydronephrosis show rapid natural improvement. On the other hand, in some cases, follow up monitoring reveal aggravation of the situation, emphasizing the necessity for thorough follow up for a long period of time.

• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.654-658
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• 2002

Purpose : Endocrine and immune systems are connected and interdependent. Adrenal glands play an important role in this network and control the balance between serum levels of dehydroepiandrosterone sulfate(DHEAS) and cortisol. These steroids have an antagonistic effect on the T cell progression into Th1 and Th2 cells and on the induction of correlated interleukins. Therefore we evaluated the role of adrenal androgen and cortisol as immune modulators in Kawasaki disease( KD) with changes of T cell immunity. Methods : From April to August in 2001, we examined serum DHEAS and 24 hour urine free cortisol(F) before administration of immunoglobulin and steroids by radioimmunoassay in 14 KD patients. It's clinical severity was determined by Harada score and coronary lesion. Results : The age of the patient group ranged from 4 months to 4 years; its average age was 2.3 years. Three patients(21.4%) were below 1 year, 2(14.3%) between 1 and 2 years, 5(35.7%) between 2 and 3 years, 4(28.6%) between 3 and 4 years of age. Male to female ratio was 1:1.3. DHEAS was significantly decreased in patients($11.1{\pm}6.0{\mu}g/dL$) more than controls($81.6{\pm}13.3{\mu}g/dL$)(P<0.05). Twenty-four hour urine free cortisol was significantly increased in patients($36.9{\pm}21.9{\mu}g/dL$) more than controls($13.6{\pm}5.5{\mu}g/dL$)(P<0.05). Ratio of DHEAS/F was decreased remarkably in patients($0.33{\pm}0.20$) more than controls($6.65{\pm}2.56$)(P=0.016). There was no difference between ratio of DHEAS/F and Harada score, but its ratio was very low in patients with coronary aneurysm. Conclusion : These data demonstrate that there are changes of DHEAS and cortisol in acute stage of KD and the dis-equilibrium between two steroids may be relevant in the T cell immune response induction of Kawasaki disease. These changes support the use of DHEAS/F ratio as one of the predictive factors of coronary arteries complication.

• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.629-636
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• 2002

Purpose : Our study was aimed to investigate the characteristics of seizures as well as to determine whether the expression of neuronal nitric oxide synthase expression(nNOS) of hippocampus has an affect in the hyperthermic seizure in developing rat. Methods : Hyperthermic seizures were repeatedly induced twice a week for four weeks in 20-day old Spraque-Dowley rats. Fifty two rats were used as a hyperthermic group and 30 rats used as a normothermic control group. Hyperthermic seizures were induced in a water bath at $45^{\circ}C{\pm}1$ for 4 min. The characteristics of seizures were recorded. Using western blot, hippocampal nNOS expression was measured in normothermic control, hyperthermic non-seizure, and hyperthermic seizure groups, respectively. Results : Eighty seven percent of hyperthermia exposed rats showed generalized tonic-clonic seizure most frequently. The duration of seizure was ranged from 12 to 145 sec(mean 55 sec) and the latency to seizure ranged from 158 to 240 sec(mean 204 sec). The duration of seizure was prolonged but there was no significant difference in the seizure latency as the rat exposed more number of hyperthermia. Interestingly, the expression level of hippocampal nNOS in hyperthermic seizure and hyperthermic non-seizure groups was not different from each other, however, the expression in these groups was lower than that of the control group. Conclusion : Our results indicate that nNOS do not have an affect in this repeated hyperthermic seizures. Further studies are required to clarify a role of nNOS in hyperthermic seizure.

• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.615-621
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• 2002

Purpose : The neonatal cardiac catheterization and angiogram for transcatheter therapy are still essential methods in congenital heart disease, so we reviewed our experience with neonatal cardiac catheterization over 10 years at a single institution. Methods : A retrospective review of all 139 neonatal catheterizations from January 1991 to December 2000 at Sejong Heart Institution was performed. The purpose of the catheterizations, ages, body weights and the complications by the exam was surveyed. Results : The mean age of our 139 patients was 14.9 days and the mean body weight was 3.3 kg. As for the diagnosis : TGA in 49 patients, PAIVS in 26 patients, DORV in 14 patients, PS in 14 patients, PAVSD in 11 patients. For the cardiac catheterization, general anesthesia was performed in 65% of total and fluoroscopy time was $20.1{\pm}14.5$ minutes during cardiac catheterization. In the interventional cardiac catheterization which was 75% of the total, the age and body weight were statistically the same but the irradiation time was longer than the diagnostic catheterization( P=0.001). There were 48 cases of atrial septostomy, 16 cases of balloon pulmonary valvuloplasty and 25 cases of transcatheter pulmonary valvotomy. Complications of cardiac catheterization were found in 16.3%, but there was no difference between interventional catheterization and diagnostic catheterization. Conclusion : Therapeutic cardiac catheterization in neonates is a relatively safe and effective method in congenital heart disease.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.307-313
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• 2010

Purpose : Results of the Korea National Health Screening Program for Infants and Children, which was launched in November 2007, were evaluated for future research and policy development. Methods : Data from a total of 2,729,340 cases were analyzed. Five visiting ages, such as 4, 9, 18, 30, and 60 months, were included. Several parameters such as stunting, obesity, and positive rate of developmental screening were also analyzed. Telephone survey was performed in 1,035 users. For the provider survey, 262 doctors participated in our study. Results : The overall participation rate of users was 35.3%. This participation rate showed a decrement tendency to old age and low income. Only 6.9% of users participated in oral screening. Health screening was performed mainly in private clinics (82.6%). The recall rate of 4 months program users at the age of 9 months was 57.3%. The positive rate of screening was 3.1%, and was higher in the low-income group. By telephone survey, users reported that questionnaires were not difficult (94%) and overall satisfaction was good (73%). Longer duration of counseling was related with more satisfied users. Counseling and health education were helpful to users (73.2%). Doctors agreed that this program was helpful to children (98.5%). Conclusion : Korea National Health Screening Program for Infants and Children was launched successfully. Participation rate should be improved, and a quality control program needs to be developed. More intensive support following this program for children of low-income families may lead to effective interventions in controlling health inequality. Periodic update of guidelines is also needed.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.349-357
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• 2010

Purpose : Transient tachypnea of the newborn (TTN) is usually benign and improves within 72 hours. However, it can also progress to prolonged tachypnea over 72 hours, profound hypoxemia, respiratory failure, and even death. The aim of this study is to find predictable risk factors and describe the clinical courses and outcomes of prolonged TTN (PTTN). Methods : The medical records of 107 newborns, >$35^{+0}$ weeks of gestational age with TTN, who were admitted to the NICU at Seoul Asan Medical Center from January 2001 to September 2007 were reviewed. They were divided into 2 groups based on duration of tachypnea. PTTN was defined as tachypnea ${\geq}72$ hours of age, and simple TTN (STTN) as tachypnea <72 hours of age. We randomly selected 126 healthy-term newborns as controls. We evaluated neonatal and maternal demographic findings, and various clinical factors. Results : Fifty-five infants (51%) with total TTN were PTTN. PTTN infants had grunting, tachypnea >90/min, $FiO_2$ >0.4, and required ventilator care more frequently than STTN infants. PTTN had lower level of serum total protein and albumin than STTN. The independent predictable risk factors for PTTN were grunting, maximal respiration rate >90/min, and $FiO_2$ >0.4 within 6 hours of life. Conclusion : When a newborn has grunting, respiration rate >90/min, and oxygen requirement >0.4 of $FiO_2$ within 6 hours of life, the infant is at high risk of having persistent tachypnea ${\geq}72$ hours. We need further study to find the way to reduce PTTN.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.358-364
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• 2010

Purpose : The aim of this study was to determine the efficacy of $Synagis^{(R)}$ (palivizumab) in reducing the respiratory syncytial virus (RSV) readmission rate in very low birth weight infants (VLBWI ) and the subgroup that showed the most effective vaccination. Methods : We enrolled 350 VLBWI who had been discharged alive from the neonatal intensive care unit of Samsung Medical Center from January 2005 to December 2007 and were followed up for at least one year. A retrospective study based on medical records was performed for a period of one year after discharge. RSV readmission rate was investigated according to BPD (bronchopulmonary dysplasia, requiring oxygen at postnatal day 28) and $Synagis^{(R)}$ prophylaxis. We categorized the subgroups by the severity of BPD gestational age, and birth weight and compared the RSV readmission rates between subgroups. Results : Eleven VLBWI were readmitted. $Synagis^{(R)}$ prophylaxis resulted in a 86% reduction in the rate of readmission due to RSV infection (prophylaxis group, 0.7% and no prophylaxis group, 5.0%; P =0.02). Readmission rate in BPD patients was also reduced in the prophylaxis group (0.7% in the prophylaxis group vs. 5.2% in the no prophylaxis group, P =0.03). The readmission rate in patients without BPD was reduced in the prophylaxis group (0% in the prophylaxis group vs. 4.9% in the no prophylaxis group, P =1.00), but this was not statistically significant.Conclusion : $Synagis^{(R)}$ prophylaxis was effective at reducing RSV readmission in VLBWI. Its efficacy was verified irrespective of BPD, gestational age, or birth weight.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.414-419
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• 2010

Purpose : The purpose of this study was to determine whether there is any difference in the clinical and laboratory characteristics of patients with autoantibody-positive and patients with autoantibody-negative type 1 diabetes at initial presentation. Methods : We analyzed 96 patients under 18 years of age with newly diagnosed type 1 diabetes. One or both of the pancreatic autoantibodies-glutamic acid decarboxylase autoantibodies (GADA) and insulin autoantibody (IAA)-were measured in all patients, and we reviewed clinical and laboratory characteristics according to the presence of these autoantibodies. Results : GADA was examined in 48 of 87 patients, and 55.2% of patients were positive. IAA was checked in 88 patients, and 39.8% were positive. Both GADA and IAA were measured in 83 patients, and 22.8% had both antibodies. The patients who had one or both autoantibodies (autoantibody-positive group) were younger than those not having any autoantibody (autoantibody-negative group). The autoantibody-positive group had lower BMI, corrected sodium level, and serum effective osmolarity, compared to the autoantibody-negative group (P <0.05). Similar differences were found between the GADA-positive and GADA-negative groups. However, there were no significant differences between the IAA-positive and IAA-negative groups. Conclusion : The prevalence of pancreatic autoantibodies was significantly higher in the under-6 years age group than in the other age groups. These findings suggest that measurement of autoantibodies at the initial diagnosis of diabetes is very useful for detecting immune-mediated type 1 diabetes and providing intensive insulin therapy, especially in younger children.

• Clinical and Experimental Pediatrics
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• v.50 no.8
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• pp.732-739
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• 2007

Purpose : A universal standard of the birth weight for gestational age cannot be made since birth weight distribution varies with races, nations and eras. This report aims to establish the birth weight for gestational age patterns by sex, plurality, and parity, specific for Korean live births. Methods : The national birth certificate data of all live births in Korea from January 2000 to December 2004 were used: for live births with gestational age 24 weeks to 42 weeks (n=2,585,5160), mean birth weight, standard deviation and 10th, 25th, 75th and 90th percentile values were obtained for each gestational age group by one week increment. To establish final standard values of Korean birth weight distribution by gestational age, the finite mixture model to eliminated erroneous birth weights was used for respective gestational age. Same as above method the birth weight for gestational age standard by sex, plurality, and parity were completed. Results : The male newborns are more heavier than female during the entire gestational age. The singletons are more heavier than twin during the entire gestational age. The para 2 are more heavier than the para 1 during the entire gestational age. Korean standard was more heavier in 10th and 50th percentile than Lubchenco's standard. Alexander's standard was more heavier in 50th and 90th percentile than Korean standard. Conclusion : These birth weight for gestational age patterns by sex, plurality, and parity are similar to the other standards. I hope that for Korean infants, this curve will help clinicians in defining and managing the large for gestational age infants and also for infants with intrauterine growth retardation.