• Childhood Kidney Diseases
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• v.14 no.1
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• pp.51-61
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• 2010

Purpose : Previous studies have suggested that Chemokine (C-C motif) ligand-2 (CCL-2; also known as MCP-1) and CCL-5 (also known as RANTES) are possibly associated with the pathogenesis of various inflammatory and non-inflammatory renal diseases. The present study was conducted to investigate association of polymorphisms of CCL-2 and CCL-5 genes with childhood IgA nephropathy (IgAN). Methods : The authors analyzed six single nucleotide polymorphisms (SNPs) of CCL-2 and CCL-5 in 196 pediatric IgAN patients and in 285 healthy controls. We compared variations in SNPs between two several sets of IgAN subgroups, allocated by presence of proteinuria (>4 mg/$m^2$/hour), podocyte foot process effacement, and pathologically advanced disease markers, such as interstitial fibrosis, tubular atrophy, or global sclerosis. Results : Genotypic data of IgAN patients and controls showed no significant SNP frequency difference in both of of CCL-2 and CCL-5. Even though two linkage disequilibrium blocks were formed, there was no significance in the haplotype analysis. In the patient subgroup analysis, no SNP of CCL-2 and CCL-5 was found to be associated with the presence of proteinuria, podocyte foot process effacement, and pathologically advanced disease markers. Conclusion : Our data indicate that no association exists between CCL-2 and CCL-5 SNPs and childhood IgAN susceptibility, and presence of proteinuria, podocyte foot process effacement, and pathologic progression of IgAN.

• Childhood Kidney Diseases
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• v.8 no.2
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• pp.176-185
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• 2004

Purpose: Rapidly progressive glomerulonephritis (RPGN) is a clinicopathologic entity characterized by extensive crescent formation and rapid deterioration of renal function within few months. For better understanding of its clinical course and designing better treatment strategies, a clinicopathological study of childhood RPGN was performed. Methods: The clinical manifestations and pathological findings were reviewed retrospectively in 12 children who were diagnosed as having RPGN by clinical manifestations and renal biopsy during a period from 1991 to 2003. Several clinicopathological parameters were analyzed as prognostic factors. Results: Among a total of 12 patients, 4 were male and 8 were female. The median onset age was 11.5 years(range 5.5-14.6 years), and the median period of follow-up was 25 months(range 7 months-6.6 years). According to the pathological classification, 10 patients (83%) were type II RPGN(immune-complex mediated glomerulonephritis), 2 patients were type III RPGN(pauci-immune glomerulonephritis), and none was type I RPGN(anti-glomerular basement membrane nephritis). All patients were treated with oral steroid in various combinations with methylprednisolone pulse therapy(10 patients, 83%), cyclophosphamide(8 patients, 67%), or plasmapheresis(4 patients, 33%). Clinical outcomes of 12 patients were complete remission in 1(8%), end-stage renal disease in 2(17%), chronic renal insufficiency with persistent proteinuria in 2(17%), and normal renal function with persistent proteinuria in 7(58%) at the last follow-up. Poor prognosis is associated with increased serum creatinine level, severe anemia and younger age at the time of diagnosis. Conclusion: Immune-complex mediated glomerulonephritis is the major cause RPGN in children and most cases showed improvement of renal function with aggressive management. For better understanding of this rare disease, a prospective multicenter study should be done.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.4
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• pp.467-471
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• 2010

Amelogenesis imperfecta, one of the dental genetic disease, is clinically and genetically complex disease. Amelogenesis imperfecta can be classified into three major categories according to clinical phenotype; hypoplastic, hypomaturation, and hypocalcification. Recently a novel gene, Fam83h, was identified to cause autosomal dominant hypocalcification amelogenesis imperfecta, however its functional role in the pathogenesis of enamel defect is not known yet. So this study was aimed to identify the knockdown effect of Fam83h gene on the amelogenin mRNA expression via shRNA transfection into immortalized ameloblast cell line. The result showed that the knockdown of Fam83h did not influence the amelogenin expression. Further study of the functional role of Fam83h gene should be performed to understand the complex nature of amelogenesis as well as molecular pathogenesis of amelogenesis imperfecta.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.42-48
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• 2012

Pompe disease is a rare lysosomal glycogen storage disorder caused by a total or partial deficiency of the acid ${\alpha}$-glucosidase (GAA) enzyme due to the GAA gene mutations. The classic infantile form of Pompe disease is a rapidly progressive multi-organ disease with hypotonia, generalized muscle weakness, and hypertrophic cardiomyopathy, usually leading to death in the first 2 years of life. Enzyme replacement therapy with recombinant human GAA has been shown to be effective and subsequently yielded promising results. Here, we present clinical and genetic characteristics of three Korean non-classic infantile Pompe patients, and the short term efficacy of enzyme replacement therapy. Considering that enzyme replacement therapy can change the natural course of infantile Pompe disease, early diagnosis and early initiation of treatment is critical to improving patient outcomes.

• Biomedical Science Letters
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• v.5 no.2
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• pp.213-217
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• 1999

In order to control resistant strains and to properly select the antimicrobial agents, it is of quite importance to know current trends of bacterial species and changing patterns of antimicrobial resistance rates. The authors studied the results of 542 Gram-positive strains among 1,689 strains isolated at Chung-buk National University Hospital in 1996. The frequently isolated Gram-positive microorganisms were Staphylococcus aureus, Streptococcus pneumoniae, Staphylococcus epidermidis and Enterococcus faecalis in descending order. S. aureus showed high resistance to penicillin, gentamicin, and susceptibility to teicoplanin and vancomycin. Coagulase negative Staphylococcus was highly resistant to all of the antibiotics used in this experiment except teicoplanin and vancomycin. Enterococcus were highly resistant to vancomycin, penicillin and tetracycline. MIC of Gram-positive oaganisms was appeared to be zig-zag pattern.

• Clinical and Experimental Pediatrics
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• v.45 no.6
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• pp.754-763
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• 2002

Purpose : The incidence of type 2 diabetes in children and adolescents has been reported to increase recently. The aim of this study is to investigate the clinical features of type 2 diabetes developing during childhood and adolescent period. Methods : The medical records of 33 patients with type 2 diabetes were reviewed. We analysed clinical manifestations, demographic data, and modes and responses of treatment. Results : Age at diagnosis was $13.4{\pm}1.8$ years. Seventy percent of patients revealed pubertal signs at diagnosis. Half of the patients had BMI more than $25kg/m^2$. Seventy-three percent of patients had family history of type 2 diabetes. Acanthosis nigricans were found in 18% of patients. Nineteen(57.6%) patients were diagnosed incidentally by random urine or blood glucose test without any typical diabetic symptom or sign. The modes of therapy to control hyperglycemia were insulin alone(75.8%), oral hypoglycemic agents alone(9.1%), insulin and oral hypoglycemia agents(9.1%), and only diet with exercise(6%). At the time of investigation, 45.5% of patients were not using insulin. The typical diabetic symptoms at diagnosis were more prevalent in patients who required insulin for more than two years than patients who did not(P<0.05). Conclusion : The development of type 2 diabetes in children and adolescents is possibly related to puberty, obesity, family history, and defects in insulin secretion rather than insulin resistance. Many children and adolescents with type 2 diabetes required insulin initially and some of them could discontinue. More than half of the patients were diagnosed as diabetes without any typical symptom or sign, which might be one of the predictive factors of the prolonged insulin requirement.

• Clinical and Experimental Pediatrics
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• v.46 no.12
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• pp.1253-1259
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• 2003

Backgroud : Seizures in the neonate are relatively common and their clinical features are different from those in children and adults. The study aimed to provide the clinical profiles of neonatal seizure in our hospital. Methods : A total of 41 newborns with seizures were enrolled in this study over a period of three years. They were evaluated with special reference to risk factors, neurologic examinations, laboratory data, neuroimaging studies, EEG findings, seizure types, response to treatment, and prognosis, etc. Results : The average age at onset of seizures was $6.1{\pm}4.6days$ and the majority of patients(42%) had multifocal clonic seizure and 24% had subtle seizure. Factors that are known to increase risk of neonatal seizures include abnormal delivery history, birth asphyxia, and electrolyte imbalance, etc. However, they remain obscure in about 20% of cases. More than 50 percent showed abnormal lesions on neuroimaging studies such as brain hemorrhage, periventricular leukomalacia, brain infarction, cortical dysplasia, hydrocephalus, etc. and 17 out of 32 patients showed abnormal electroencephalographic patterns. Phenobarbital was tried as a first line antiepileptic drug and phenytoin was added if it failed to control seizures. The treatments were terminated in the majority of patients during the hospital stay. The overall prognosis was relatively good except for those with abnormal EEG background or congenital central nervous system malformations. Conclusion : Neonatal seizures may permanently disrupt brain development. Better understanding of their clinical profiles and appropriate management may lead to a reduction in neurological disability in later childhood.

• Pediatric Infection and Vaccine
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• v.11 no.1
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• pp.101-111
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• 2004

Purpose : This study was performed to observe the epidemiological pattern of M. pneumoniae pneumonia during the period from 1993 to 2002 and also to see some clinical characteristics of M. pneumoniae pneumonia during recent five years. Methods : We had performed a retrospective analysis of epidemiological pattern of occurrence in 682 patients with M. pneumoniae pneumonia admitted to Department of Pediatrics of Han-il General Hospital from January, 1993 to December, 2002. Results : The annual ratio of M. pneumoniae pneumonia was compared with the total numbers of respiratory tract infection patients. The ratios were 19.1% in 1993, 13.0% in 1994, 5.6% in 1995, 12.8% in 1996, 18.6% in 1997, 22.6% in 1998, 1.1% in 1999, 13.3% in 2000, 9.1% in 2001, 6.0% in 2002, and 19.9% in 2003. The epidemics have occurred in 1993, 1997, 1998, 2000, and 2003 years showing 3~4 year intervals. The peak incidence of age was four to six years old(286 cases; 41.9%) and male-to-female ratio was 1 : 1.1. Monthly distribution showed a high frequency from August to December and the major outbreak occurred in November(119 cases; 17.4%), in October(106 cases; 15.5%), and in December(96 cases; 14.1%) in order of frequency. The most common symptoms were cough (660 cases; 96.8%), fever(569 cases; 83.4%), and sputum(522 cases; 76.5%) in that order. Leukocytosis was observed in 31.2% of patients based on a normal range according to the adjusted age. Increased ESR(${\geq}20mm/hr$) was noted in 42.5% of cases and CRP was positive in 37.8% of cases. On the chest X-ray examination, pulmonary infiltration was noted in 557 cases(81.7%), and the patterns of pneumonic infiltration were bronchopneumonia(78.0%), lobar(35.5%), lobular(19.2%), and interstitial pneumonia(28.7%). Complications were paranasal sinusitis(41 cases), acute otitis media(23 cases), pleural effusion(19 cases). cervical lymphadenitis(18 cases), and glomerulonephritis(1 case). Conclusion : The pattern of M. pneumoniae pneumonia from 1997 to 2003 noted 3~4 year interval with peak monthly distribution of October and November compared with 3 year interval and peak incidence of summer period before 1996.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.72-79
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• 2007

Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

• Journal of Oral Medicine and Pain
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• v.37 no.1
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• pp.33-45
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• 2012

This study was designed to assess follow-up study of condylar bone changes using cone beam computed tomography in patients with osteoarthritis. The author performed clinical examination for osteoarthritis patients who visited Orofacial Pain Clinic, Department of Oral Medicine, Pusan National University Hospital. CBCT(Cone beam computed tomography) was taken for 228 joints in 114 subjects. After average 10 months, CBCT was retaken. A Oral medicine and Oral radiologist evaluated CBCT each other. Condyle bone changes were classified by no bone change, flattening, erosion, osteophyte and sclerosis. The obtained results were as follow. 1. The condylar bone changes of osteoarthritis in temporomandibular disorder were as follow: 1) The transitions of each types of condylar bone changes was maintained at the initial state of the majority. 2) The transition of erosion was distributed erosion, flattening, sclreosis, osteohyte in order. 3) The transition of flattening was distributed flattening, osteohyte, normal, sclreosis in order. 4) The transition of osteohyte was distributed osteohyte, erosion, sclreosis, flattening in order. 5) The transition of sclreosis was distributed sclreosis, osteohyte, erosion, normal in order. 2. The signs and symptoms according to transition of each types of condylar bone changes were as follow 1) In the transition of condylar bone changes from erosin to erosion, pain, noise, LOM and MCO had symptomatic improvement. In the transition of condylar bone changes from erosin to flattening, pain, LOM, MCO had symptomatic improvement. In the transition of condylar bone changes from erosin to no bony change, pain, noise, LOM had symptomatic improvement. In the transition of condylar bone changes from erosion to flattening than the maintenance of eosion, MCO had symptomatic improvement. 2) In the transition of condylar bone changes from flattening to flattening, pain, noise and MCO had symptomatic improvement. In the transition of condylar bone changes from flattening to sclerosis, LOM had symptomatic improvement. 3) In the transition of condylar bone changes from osteophyte to osteophyte, pain, LOM and MCO had symptomatic improvement.