• 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.646-653
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• 2002

Purpose : The incidence of type 2 diabetes mellitus in children has been increasing worldwide recently, which is thought to be related to the increasing prevalence of obesity. We investigated to evaluate the incidence and the characteristics of type 2 diabetes mellitus in children and also analysed the relationship between intrauterine growth retardation and type 2 diabetes mellitus. Methods : We investigated 25 children diagnosed as type 2 diabetes mellitus between March 1990 and December 2000. The analysis was performed retrospectively with medical records based on the clinical characteristics and laborotory findings. Results : Incidence of type 1 and type 2 diabetes mellitus in children has been increasing since 1990. We demonstrated an increase in the percentage of type 2 diabetes mellitus children from 5.3% in 1990 to 21.0% in 2000. Sixty eight percent of patients(17/25) were classified as obese group. Initial symptoms at first visit were polyuria, polydipsia and polyphagia 48%(12/25), asymptomatic glycosuria 40% (10/25), weight loss 8%(2/25) and obesity 4%(1/25). The mean age at diagnosis was $12.9{\pm}1.8$ years. 64%(16/25) of patients had positive family history of type 2 diabetes mellitus. Autoanti-bodies were positive in 18.1%(4/22) of patients. Twenty eight percent (7/25) of patients had an associated disease and two patients had fatty liver in association with obesity. Treatment consisted of diet, exercise, education and oral hypoglycemic agents. Three patients were treated with insulin as well as oral hypoglycemic agents because of poor blood glucose control. Long-term diabetic complications occurred in 4 patients. Intrauterine growth retardtion was found in 34.6%(9/25); 88.9% (8/9) of these patients were non-obese group. Conclusion : The increase in the incidence of type 2 diabetes mellitus in children is thought to be related to the increasing prevalence of obesity. The non-obese group of patients might be associated with intrauterine growth retardation.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.420-427
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• 2010

Purpose : Several complications can occur in patients who received bone marrow transplantation (BMT) during childhood and adolescence. This study aims to investigate endocrine dysfunctions after BMT so that better care can be provided to care for long-term survivors of BMT. Methods : One hundred patients (61 males, 39 females) were included in this study. Clinical parameters such as initial diagnosis, age at BMT, conditioning regimen, presence of graft-versus-host disease (GVHD), growth pattern, thyroid function, and pubertal status were retrospectively reviewed to evaluate risk factors associated with endocrine dysfunction. Results : Height standard deviation score (SDS) at BMT, after 1 year of BMT, and at the last visit were $0.08{\pm}1.04$, $-0.09{\pm}1.02$, and $-0.27{\pm}1.18$, respectively (P =0.001). Height SDS significantly decreased in patients who received total body irradiation (TBI) (P =0.017). One of the patients who received TBI demonstrated growth hormone deficiency. Thirty (31.9%) of 94 patients had compensated hypothyroidism. Incidence of compensated hypothyroidism was higher among those who had GVHD (odds ratio 2.82, P =0.025). Of the 32 patients (17 males, 15 females) who were over 14 years in male and 13 years in female at the last visit, 16 (3 males, 13 females) had increased luteinizing hormone (LH) or follicle-stimulating hormone (FSH). Abnormal elevation of LH or FSH was more common in females (odds ratio 30.3, P =0.001). Conclusion : The most common endocrine dysfunction was ovarian insufficiency. Regular check-up for endocrine function needs to be required due to high incidence of endocrine dysfunction in patients with BMT.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.392-396
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• 2010

Purpose : The association between iron deficiency anemia and febrile convulsion in infants has been examined in several studies with conflicting results. Therefore, the authors aimed to evaluate the precise relationship involved. Methods : In this case-control study, the authors assessed 100 children with a diagnosis of febrile convulsion, aged between 9 months and 2 years, during January 2007 to July 2009. The control group consisted of 100 febrile children without convulsion; controls were closely matched to the cases by age, gender, and underlying disease. Results : The mean ages of the febrile convulsion and control group were $16.3{\pm}7.4$ and $15.8{\pm}6.1$ months, respectively, and the two groups had no differences in clinical features. Iron deficiency anemia (Hb <10.5 gm/dL) was more frequent in the febrile convulsion group than in the control group, although there was no statistical significance. Unexpectably, the RDW (red blood cell distribution width) was significantly lower and the MCNC (mean corpuscular hemoglobin concentration) was significantly higher among seizure cases than among the controls (P <0.05). There is no statistical difference between simple and complex febrile groups in the clinical and laboratory profiles. On multiple logistic regression analysis, iron deficiency anemia was more frequent, but the RDW was lower, among the cases with febrile convulsion, compared with the controls. Conclusions : Our study suggests that the iron deficiency anemia is associated with febrile convulsion, and screening for iron deficiency anemia should be considered in children with febrile convulsions.

• Journal of agricultural medicine and community health
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• v.23 no.2
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• pp.275-285
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• 1998

Antibody responses(IgG) to Paragonimus westermani. Clonorchis sinensis, Cysticercus cellulosae, Sparganum Anisakis simplex, Toxocara canis and Trichinella spiralis were studied. The ELISA technique was performed to determine the prevalence of above helminthic diseases. 975 cases obtained from Yanbian of China during October, 1995 to July, 1997 were examined with a positive antibody titer of 5.74% in clonorchiasis, 4.92% in paragonimiasis, 1.54% in cysticercosis. 8.51% in sparganosis, 1.85% in anisakiosis, 12.51% in toxocariasis, and 7.08% in trichinosis respectively. And 23.87% in showed positive antibody titer at least one of the seven helminths. The differences of the age and sex in the positive sera were analysed by the Chi-squared test and the level of significance accepted was p<0.05. The significant differences in positive antibody production were P.W.(p<0.01). C.S.(p<0.01), A.S.(p<0.05). T.C.(p<0.001), and T.S.(p<0.01) respectively in age groups. sparganosis(p<0.05) in sex groups. Other parasites showed that there were no significant differences among age groups and sex groups(males and females). Higher positive antibody rate of C.S. and P.W. occured in the 50-59 years old and those of T.C. and T.S. happened in the 20-29 years old. Patients of internal disease showed more positive antibody titer, that is to say, there was significant difference between positive rate of internal diseases and that of control (p<0.01. p<0.05) in 6 helminths except cysticercosis. The result showed that some cross reactions existed among nematodes, and the developed techniques(EITB) should be done for a correct diagnosis. Also the prevalence of some important helminths may be evaluated from the result and it would be a basic data for controlling parasitic diseases in Yanbian.

• Tuberculosis and Respiratory Diseases
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• v.45 no.6
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• pp.1167-1177
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• 1998

Background : Pulmonary tuberculosis is one of the diseases characterized granuloma formation which was controlled by cellular immune reactions. In the process of granulomatous changes, activated alveolar macrophages and T lymphocytes secrete many cytokines including interleukin-1 (IL-1), tumor necrosis factor-alpha(TNF-$\alpha$), interferon-gamma(IFN-$\gamma$) which mediate inflammatory reactions. Intercelluar adhesion molecule-1(ICAM-1) also known to major role player in inflammatory processes, and increased cellular expressions when endothelial cell was stimulated by IL-1, TNF and IFN. Method : To evaluate relationships among cellular immune reactions and clinical stages, pulmonary tuberculosis patients were classified into three groups according to their clinical stages including minimal, moderate and far advanced tuberculosis. TNF-$\alpha$ IFN-$\gamma$, sICAM-1 (soluble form of ICAM-1) were measured at the time of diagnosis and after 6-months anti-tuberculosis medications by radioimmuno assay or enzyme linked immunosolvent assay. Result : TNF-$\alpha$, IFN-$\gamma$, sICAM-1 were significantly increased in moderate and far advanced pulmonary tuberculosis patients but no meaningful changes in minimal staged patients. 6-months anti-tuberculosis medications reduced serum sICAM-1 levels significantly, related to clinical improvement but no significant changes were found in the serum levels of TNF-$\alpha$ and IFN-$\gamma$. In the point of correlations. positive ones revealed between TNF-$\alpha$ and sICAM-1, also between IFN-$\gamma$ and sICAM-1 but no correlation between TNF-$\alpha$ and IFN-$\gamma$. Conclusion : Measurement of serum sICAM-1 could be useful parameter to evaluate the severity of pulmonary tuberculosis and to monitor disease activities during anti-tuberculosis medications.

• Tuberculosis and Respiratory Diseases
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• v.47 no.6
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• pp.807-816
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• 1999

Background: Sarcoidosis, uncommon in Korea, has variable clinical course, ranging from benign self-limited recovery to life-long disability regardless of corticosteroid therapy. The purpose of this study is to observe the clinical course of untreated sarcoidosis. Methods: Twenty four patients who were confirmed as sarcoidosis by tissue diagnosis were included. For average 12month follow-up periods, subjective symptoms, radiologic findings, and parameters of pulmonary function test(FVC, $FEV_1$, DLco) were evaluated every 3mooths compared between corticosteroid treated(n=5) and non-treated(n=19) patients. 'Deterioration' was defined if patients met more than one of followings (1) decrement in any parameters of pulmonary function test(2) worsening in the degree of dyspnea(3) increase in radiologic extents, and (4) newly developed extrapulmonary sarcoidosis. 'Stable' was defined as no significant interval changes in every parameters. 'Improvement' was defined as decrement of extension of the radiologic lesions without deterioration. Results: Among 19 untreated sarcoidosis patient, one deteriorated, 14 improved(13 of them showed complete resolution in radiology), and 4 were remained stable. On the other hand, five corticosteroid treated patients, uveitis was developed in one, 2 improved, and 2 remained stable. Conclusion : These findings suggest that patient with sarcoidosis, especially those without serious extrapulmonary disease, has stable clinical course and would not need corticosteroid therapy.

• Tuberculosis and Respiratory Diseases
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• v.43 no.6
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• pp.965-975
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• 1996

Background : Exogenous lipoid pneumonia is caused by inhalation or aspiration of animal, vegetable or mineral oil. Most cases are ascribed to aspiration of oil in laxatives or nose drops Petroleum, another pure hydrocarbon used as a base in various medications, is occasionally involved. Especially animal oil produces severe tissue inflammatory reaction, but most patients present with only abnormal chest X-ray and no specific clinical symptoms or signs. Method: Seven patients, 3 males and 4 females, with exogenous lipoid pneumonia, who was hospitalized or referred to pulmonary division at Samsung Medical Center from December 1994 10 July 1996, were included. They hadn a history of laking shark liver oil(so-called "squalene") for varying period of time. We reviewed clinical, radioloic and pathologic findings. Result: Patients look 7 to 30 capsules of "squalene" a day for at least one month to 5 years. Six cases had chronic disease such as diabetes, hypertension, or cerebrovascular accident. Respiratory symptoms of mild fever, cough and sputum were present in 3 cases and in 3 cases there was no clinical symptoms and signs but abnormal findings by chest X - ray. The major radiologic findings by simple chest X - ray and computed tomography consisted of consolidation, infiltration involving mainly right middle and both lower lobes, and ground-glass opacity. Five of six bronchoscopic examinations demonstrated both lipid droplets floating on the surface of bronchoalveolar lavage fluid and Lipid-laden macrophages in bronchoalveolar lavage fluid or lung tissue. Follow-up chest X -ray showed improvement in 4 cases but no marked interval change in 3 cases after removal of exposure to "squalene". Conclusion: Shark liver oil can induce lipoid pneumonia in adults. In case of high clinical suspicion, confirmation of "squalene" use by careful history taking is required and bronchoscopy is helpful in diagnosis.

• Tuberculosis and Respiratory Diseases
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• v.56 no.4
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• pp.364-373
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• 2004

Background : Obstructive sleep apnea is a contributory factor of hypertension, arrhythmia, ischemic heart disease and other cardiovascular diseases. However, the pathophysiology underlying this relationship is unclear. Recent reports have shown that the soluble intercellular adhesion molecule-1(sICAM-1) and vascular endothelial growth factor(VEGF) are involved in the initiation and progression of atherosclerosis, and some reports state that increased levels of these cytokines are found in patients with obstructive sleep apnea. In this study, the levels of sICAM-1 and VEGF were measured in patients with obstructive sleep apnea in order to determine if obstructive sleep apnea is involved in the pathophysiology of cardiovascular diseases. Methods : Thirty-seven patients were chosen amongst a population who visited the Sleep Disorders Clinic of St. Paul's Hospital in Seoul, Korea for a diagnosis of obstructive sleep apnea and who had subsequently undergone an overnight polysomnography at the clinic. The sera from these patients were retrieved after an overnight polysomnography session and the samples were kept at $-70^{\circ}C$. The cytokine levels were determined with ELISA and the relationships between the serum levels of sICAM-1 and VEGF along with polysomnography parameters were analyzed. Results : No statistically significant correlation was observed between the sICAM-1 levels and the apnea-hypopnea index(r=0.27, P>0.05). Positive correlations were found between the apnea-hypopnea index and serum VEGF levels (r=0.50, P<0.01), the apnea index and the serum sICAM-1 levels (r=0.31, P<0.01), and the apnea index and the serum VEGF levels (r=0.45, P<0.01). Conclusions : Obstructive apnea or hypopnea leads to an increase in the sICAM-1 and VEGF levels. Such an increase in the cytokine levels most likely leads to the higher incidence of cardiovascular diseases observed in patients with obstructive sleep apnea.