PURPOSE: The number of children and adolescents with type 2 diabetes is increasing worldwide. This study was undertaken to characterize clinical features of type 2 diabetes mellitus and evaluate the risk factors. METHODS: This study included 27 type 2 diabetes patients out of 204 patients diagnosed as diabetes mellitus from 1994 though 2005 at Asan Medical Center. Clinical characteristics including acanthosis nigricans, obesity index, body mass index (BMI), laboratory data, and treatment methods of patients with type 2 diabetes were reviewed retrospectively. RESULTS: The mean age at diagnosis was 12.3+/-2.4 years. Patients were followed up for a duration of 3.1+/-1.9 years. In family history, 16 patients (59%) had one or more family members of type 2 diabetes. Ten children (37%) had acanthosis nigricans. Mean body mass index and obesity index were 28.4+/-4.9 kg/m2 and 41.6+/-27.1%, respectively. Anti-GAD antibody were not detected in any patient. Hypercholesterolemia was found in 9 patients (36%), and hypertriglyceridemia in 19 patients (76%). Homeostatic model assessment-insulin resistance (HOMA-IR), which was calculated in 10 patients, 6.8+/-7.3. The modes of therapy included insulin alone (30%), oral hypoglycemic agents alone (63%), and combined therapy (7%). No one had developed long-term complications of diabetes during follow-up periods. CONCLUSION: Risk factors such as positive family history, obesity, acanthosis nigricans, and insulin resistance might be associated with type 2 diabetes. This study suggests that modification of obesity could prevent the incidence of type 2 diabetes in children and adolescents.
Acanthosis Nigricans ; Adolescent* ; Body Mass Index ; Child* ; Chungcheongnam-do ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Diagnosis ; Follow-Up Studies ; Humans ; Hypercholesterolemia ; Hypertriglyceridemia ; Hypoglycemic Agents ; Incidence ; Insulin ; Insulin Resistance ; Obesity ; Retrospective Studies ; Risk Factors

PURPOSE: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disease characterized by hepatosplenomegaly, short stature, hypoglycemia, hyperuricemia and lactic academia. It is caused by mutations of glucose-6-phosphatase (G6Pase) gene located on chromosome 17q21. The study were undertaken to investigate clinical manifestations and genotype as well as to evaluate the effects of uncooked corn starch (UCCS) on height growth of pubertal and prepubertal subjects with GSD Ia. METHODS: We analyzed clinical data from 24 GSD Ia patients retrospectively by medical record review. Height standard deviation score (Ht-SDS) was calculated from 13 GSD Ia patients under age 15 treated with UCCS and followed-up over 1 year. DNA isolation, PCR reaction and DNA sequencing analysis were performed in all studied patients. RESULTS: Hypertriglyceridemia (100%), elevated liver enzyme (85%), hyperuricemia (48%), hypercholesterolemia (45%), anemia (45%) were major laboratory findings in studied population. Four different mutations of G6Pase gene in 48 alleles were identified. C.648G>T mutation was the predominant mutation, allele frequency of which was 78.6% (33 alleles). The other mutations were p.Phe51Ser, p.Gly222Arg, p.Gly122Asp. The p.Phe51Ser was a novel mutation. Mean Ht-SDS at diagnosis and two years after UCCS treatment were -2.04+/-1.69 and -0.72+/-1.12 respectively, which were statistically significant (P=0.036). CONCLUSION: The genotype of the G6Pase gene was nearly homogeneous in Korean patients with GSD Ia. Molecular analysis of the G6Pase gene will be the diagnosis of choice since the c.648G>T mutation accounts for 78.6% of mutations in Korean patients with GSD Ia. UCCS treatment has a beneficial effect on height growth of children and adolescents with GSD Ia.
Adolescent ; Alleles ; Anemia ; Child ; Diagnosis ; DNA ; Gene Frequency ; Genotype ; Glucose-6-Phosphatase ; Glycogen Storage Disease* ; Glycogen* ; Humans ; Hypercholesterolemia ; Hypertriglyceridemia ; Hyperuricemia ; Hypoglycemia ; Liver ; Medical Records ; Polymerase Chain Reaction ; Retrospective Studies ; Sequence Analysis, DNA ; Starch* ; Zea mays*

PURPOSE: Tumor necrosis factor (TNF)-alpha and eosinophilic inflammation have their role in asthma, but there were no studies on respiratory syncytial virus (RSV) bronchiolitis. The aim of our study was to investigate whether TNF-alpha has a role in eosinophilic inflammation of lower respiratory tract infections with RSV and has the correlation with other cytokines. METHODS: Fifty children with first RSV bronchiolitis (RSV group) and 18 healthy children without any respiratory symptom and sign (control group) were enrolled. Clinical data, such as eosinophil-derived neurotoxin (EDN), eosinophil cationic protein (ECP), were analyzed. We measured interleukin (IL)-5, IL-8, TNF-alpha, granulocyte macrophage-colony stimulating factor (GM-CSF), interferon (IFN)-gamma, eotaxin, and regulated on activation, normal T cell expressed and secreted (RANTES) in nasal lavage fluid in both groups. RESULTS: Eotaxin, GM-CSF, IL-8, IFN-gamma and TNF-alpha were higher in the RSV group than the control group. TNF-alpha correlated with an eosinophil-active cytokine, GM-CSF (r=0.86, P<0.0001), IFN-gamma (r=0.90, P<0.0001), and with eosinophil-active C-C chemokines such as eotaxin (r=0.50, P<0.0001). TNF-alpha also correlated with proinflammatory cytokines such as IL-8 (r= 0.81, P<0.0001). CONCLUSION: TNF-alpha correlated with eosinophil-active chemokines and cytokines. Therefore, TNF-alpha may have a role in eosinophilic inflammation in children with RSV bronchiolitis.
Asthma ; Bronchiolitis ; Chemokines ; Chemokines, CC ; Child ; Cytokines ; Eosinophil Cationic Protein ; Eosinophil-Derived Neurotoxin ; Eosinophils ; Granulocyte-Macrophage Colony-Stimulating Factor ; Granulocytes ; Humans ; Inflammation ; Interferons ; Interleukin-8 ; Interleukins ; Nasal Lavage Fluid ; Respiratory Syncytial Viruses ; Respiratory Tract Infections ; Tumor Necrosis Factor-alpha

We report a 2-month-old boy who presented with severe hyponatremia and hyperkalemia secondary to ureteropelvic junction(UPJ) obstruction. By prenatal ultrasonography at 19 weeks of gestation, severe hydronephrosis was found which was confirmed postnatally. Pyeloplasty was done on the 45th day of life, and fifteen days after pyeloplasty, non-bilious vomiting, decreased activity and dehydration developed. Severe hyponatremia and hyperkalemia were observed, as a result of elevated serum aldosterone and plasma renin activity. The anterior posterior pelvic diameter(APPD) and Society for Fetal Urology(SFU) grade measured showed no interval change before and after pyeloplasty. Pseudohypoaldosteronism was diagnosed, and 2M NaCl was administrated orally for 7 days. The electrolyte imbalance was corrected, and 8 weeks later, the elevated levels of aldosterone and plasma renin activity were normalized. The left hydronephrosis was improved at 5 months of age. We hereby report a transient pseudohypoaldosteronism secondary to UPJ obstruction with a review of the literature.
Aldosterone ; Dehydration ; Humans ; Hydronephrosis ; Hyperkalemia ; Hyponatremia ; Infant ; Male ; Plasma ; Pregnancy ; Pseudohypoaldosteronism* ; Renin ; Ultrasonography, Prenatal ; Vomiting

Human rhinoviruses (HRV) mostly cause mild and self-limiting upper respiratory tract infections. We report 2 infants with acute respiratory failure requiring mechanical ventilation, 1 of whom deteriorated to death. The causal pathogen was HRV group A confirmed by multiplex-PCR. In Korea, this is the first report of severe respiratory failure caused by HRV group A during the same season.
Humans ; Infant ; Korea ; Respiration, Artificial ; Respiratory Insufficiency ; Respiratory System ; Respiratory Tract Infections ; Rhinovirus ; Seasons

PURPOSE:To investigate whether airway eosinophilic degranulation develops in Mycoplasma pneumonia (M. pneumonia), and to elucidate the association between M. pneumonia and asthma. METHODS:Forty patients with M. pneumonia, 20 stable asthma patients (stable asthma) and 20 normal controls were recruited from October 2005 to February 2007. In the M. pneumonia, blood and induced sputum sampling were collected at admission (acute stage) and 6 to 8 weeks later (convalescent stage). Eosinophil-derived neurotoxin (EDN) and eosinophil cationic protein (ECP) levels in sputum and serum were measured in all 3 groups. RESULTS:Serum levels of EDN and ECP in the acute stage of M. pneumonia were comparable to those in the stable asthma group. However, in the convalescent stage of M. pneumonia, EDN and ECP levels were significantly lower than in the stable asthma (P<0.01 and P<0.05, respectively). Sputum levels of EDN and ECP levels in the acute stage of M. pneumonia were comparable to those in the stable asthma. Sputum EDN levels in the convalescent stage of M. pneumonia were significantly lower than those in the stable asthma (P<0.05), and sputum ECP levels were lower than those in the stable asthma, which was not statistically significant. CONCLUSION:Eosinophilic degranulation may play an important role in the pathogenesis of M. pneumonia, which suggests the association between M. pneumonia and asthma.
Asthma ; Eosinophil Cationic Protein ; Eosinophil-Derived Neurotoxin ; Eosinophils ; Humans ; Inflammation ; Mycoplasma ; Pneumonia ; Pneumonia, Mycoplasma ; Sputum

Swyer-James syndrome (SJS) is characterized by a small- or normal-sized unilateral hyperlucent lung with decreased vascularity and air trapping on plain radiographs. SJS is considered to be a postinfectious form of bronchiolitis obliterans and has occurred following childhood pulmonary infection by adenovirus, measles, influenza virus, Bordetella pertussis, Mycobacterium tuberculosis or Mycoplasma pneumoniae. The standard treatment modality for SJS is supportive care. Despite the prominent role of inflammation in the pathogenesis of SJS, the use of corticosteroids has remained controversial. We report herein a case of SJS which was successfully treated with monthly methylprednisolone pulse therapy, resulting in complete remission as verified by high resolution computed tomography.
Adenoviridae ; Adrenal Cortex Hormones ; Bordetella pertussis ; Bronchiolitis Obliterans ; Inflammation ; Lung, Hyperlucent ; Measles ; Methylprednisolone ; Mycobacterium tuberculosis ; Mycoplasma pneumoniae ; Orthomyxoviridae ; Pneumonia, Mycoplasma

PURPOSE: Although methylxanthines (aminophylline or theophylline) have an equivalent bronchodilator effect on inhaled beta2-agonists, the GINA guidelines recommend methylxanthines as an alternative to methylxanthines becamse of their side effects. The Japanese Pediatric Guidelines for the Treatment and Management of Asthma (JPGTMA 2005), however, recommends methylxanthines for the treatment of asthma attack along with systemic corticosteroids. We aimed to determine whether the addition of intravenous (IV) aminophylline with both IV corticosteroids and inhaled beta2-agonists would improve asthma symptoms better and earlier without serious adverse effects. METHODS: Thirty-seven children with acute asthma exacerbation were studied. Twenty patients were treated with a combination of IV corticosteroids, inhaled beta2 agonists and IV aminophyllines (Group A), and 17 patients were treated with IV corticosteroids and inhaled beta2 agonists only (Group B). We evaluated the changes of symptom scores, including degrees of wheezing, retraction, orthopnea, cyanosis and SpO2, before and after treatment in both groups. RESULTS: Group A patients showed faster improvement in asthma symptom score (P<0.05) and significantly faster resolution of wheezing (P<0.05) than Group B patients. In Group B, patients with prolonged wheezing (>72 hours) resulted in need for larger dose of systemic steroids (P<0.05). Although adverse effects occurred in 20% of Group A patients, all of which them were not serious without the need for drug withdrawal. CONCLUSION: IV aminophylline may be a therapeutic option for children with acute asthma exacerbation. Further evidence is needed to substantiate the conclusion.
Adrenal Cortex Hormones ; Aminophylline* ; Asian Continental Ancestry Group ; Asthma* ; Bronchodilator Agents ; Child* ; Cyanosis ; Humans ; Respiratory Sounds ; Steroids

Neonatal adrenoleukodystrophy(NALD) is an inherited autosomal recessive disease characterized by very early onset of neurologic deterioration, extreme hypotonia, poor sucking reflex, failure to thrive, poor or absent grasp and Moro reflexes, diminished deep tendon reflexes, neonatal seizure refractory to antiepileptic drugs, progressive hepatomegaly, and mild or absent craniofacial dysmorphism. In the peroxisomal biogenesis disorders, whose basic defect are the incapabilities to import one or more proteins into the organelle, include Zellweger syndrome(ZS), NALD, and infantile Refsum disease(IRD). These are now thought to represent a continuous spectrum of disease severity, ZS the most severe, IRD the least severe, and NALD intermediate. Furthermore, their biochemistry and microscopic pathology are nearly identical. The biochemical abnormalities of NALD are the elevated levels of very long chain fatty acid(VLCFA), phytanic acid, pristanic acid, pipecolic acid in plasma, cultured skin fibroblasts, and reduced plasmalogen contents in erythrocytes. There are no effective treatments until now. We experienced an one day old neonate with hypotonia and seizure, who was diagnosed as NALD by elevated plasma VLCFA. So we report the case with a brief review of literature.
Anticonvulsants ; Biochemistry ; Organelle Biogenesis ; Erythrocytes ; Failure to Thrive ; Fibroblasts ; Hand Strength ; Hepatomegaly ; Humans ; Infant, Newborn ; Muscle Hypotonia ; Organelles ; Pathology ; Peroxisomal Disorders* ; Phytanic Acid ; Plasma ; Reflex ; Reflex, Stretch ; Seizures* ; Skin

PURPOSE: Eosinophilic inflammation plays a critical role in asthma and high-resolution computed tomography (HRCT) scoring systems have been used to evaluate the extent and severity in long standing adult asthma. We investigated if there is a correlation between eosinophil degranulation markers and HRCT scores in childhood asthma. METHODS: Children with acute asthma exacerbation (n=25) underwent HRCT and were assessed for bronchial wall thickening (BWT), low lung density (LLD), and bronchial dilatation (BD) using semi-quantitative scoring techniques. Serum eosinophil-derived neurotoxin (EDN) and eosinophil cationic protein (ECP) levels indicating eosinophil degranulation were determined. Comparisons were made with normal control subjects (n=14). RESULTS: BWT (P<0.001) and LLD (P<0.001) scores were higher in the childhood asthma group than in the control group, but BD scores were not. The EDN (r=0.405, P<0.05) and ECP (r=0.565, P<0.01) levels significantly correlated with BWT scores, but not with LLD and BD in the childhood asthma group. The EDN (r=0.710, P<0.0001) and the ECP (r=0.580, P<0.0001) levels were significantly correlated with serum total eosinophil counts. CONCLUSION: The EDN and ECP levels were correlated with BWT scores on HRCT. These findings suggest that EDN and ECP may be valuable for quantifying airway thickening in children with asthma exacerbation.
Adult ; Asthma* ; Child* ; Dilatation ; Eosinophil Cationic Protein* ; Eosinophil-Derived Neurotoxin* ; Eosinophils* ; Humans ; Inflammation ; Lung