• Tuberculosis and Respiratory Diseases
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• v.59 no.3
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• pp.298-305
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• 2005

Background : Obstructive sleep apnea syndrome (OSAS) is believed to have multifactorial causes. The major risk factors for OSAS are obesity, narrowed upper airways, and abnormal cranial-facial structures. A genetic basis for OSAS has been also suggested by reports of families with many members affected. This study analyzed the HLA typing in patients with OSAS to determine the possible role of genetics in OSAS. Methods : Twenty-five Korean patients with OSAS (1 woman and 24 men; age range 30-66 years) were enrolled in this study. A diagnosis of OSAS was made using full-night polysomnography. The control group consisted of 200 healthy Korean people. Serologic typing of the HLA-A and B alleles was performed in all patients using a standard lymphocyte microcytotoxicity test. Analysis of the polymorphic second exons of the HLA-DRB1 gene was performed using a polymerase chain reaction-sequence specific oligonucleotide probe. Results : The allele frequency of HLA-A11 was significantly lower in patients with OSAS compared with the controls (p<0.05). The HLA-B allele frequencies in the patients and controls had a similar distribution. Analysis of the HLADRB1 gene polymorphisms showed an increased frequency of DRB1*09 in the OSA patients compared with the controls (p<0.05). When the analysis was performed after dividing the OSAS patients according to the severity of apnea, the allele frequency of HLA-DRB1*08 was significantly higher in the severe OSA patients (apnea index >45) than in the controls (p<0.05). Conclusion : This study revealed an association between OSAS and the HLA-A11 and DRB1*09 alleles as well as association between the disease severity and the HLA-DRB1*08 allele in Korean patients. These results suggest that genetics plays an important role in both the development and the disease severity of OSAS.

• 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.3
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• pp.298-304
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• 2006

Purpose : We compared the asthma predictive index(API) and the modified asthma predictive index (mAPI) of the Tuscon Children's Respiratory Study Group in Korean children with recurrent wheezing. We investigated the atopic profiles and presence of allergen sensitization of each risk group, and ascertained the significant clinical risk factors. Methods : Two hundred and sixty two children, who visited for recurrent wheezing from 1998 to 2005, were enrolled and divided into groups by API and mAPI. We investigated the history of the patients and their families, atopic profiles, and sensitization to aeroallergen and food allergens. Twenty nine children were followed up to 6 years of age and we evaluated the sensitivity, specificity and positive and negative predictive value of both indices. Results : The high risk group of API were of older age, were more likely to be sensitized to aeroallergen(P=0.001) and food allergen(P=0.034) and had higher levels of total eosinophil count, eosinophil percent, serum ECP, total IgE, and D.p-, D.f-specific IgE. High risk group of mAPI showed higher levels of atopic markers such as egg-, milk-, D.p- and D.f-specific IgE. Even though API did not include allergen sensitization, the high risk group was more significantly sensitized to common allergens than the low risk group. Twenty nine children were followed up until 6 years of age; therefore 15 children were diagnosed as asthma, clinically. The sensitivity, specificity, positive and negative predictive values of mAPI were higher than API. Conclusion : Both high risk groups of API and mAPI had higher levels of atopic markers and were more sensitized to common allergens. These findings suggest that sensitization to aeroallergens and food allergens are more objective markers as asthma predictive indices. In addition, mAPI is a more reliable index in predicting asthma in Korean children with recurrent wheezing than is API. But only 29 patients were followed until the age of 6, so we need to include more children with long term follow up for future study.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1097-1105
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• 2002

Purpose : This study was conducted to estabilish the prevalence, clinical features and relationship between ECG findings and echocardiographic findings of Wolff-Parkinsion-White(WPW) syndrome in asymptomatic preschool children. Methods : An electrocardiographic screening study was performed on 77,824 preschool children in Jeonbuk province from April, 1999 to August, 2001. Patients with WPW syndrome underwent echocardiographic study. Results : Twenty three patients with WPW syndrome were discovered by electrocardiographic screening of preschool children. The prevalence rate was 2.9 per 10,000 preschool children and there was no significant sexual difference. Two patients had a history of symptoms related to tachyarrythmia. According to the ECG classification of Rosenbaum et al., five patients were type A and 18 were type B. Utilizing the criteria of Gallagher et al, right anterior, 12 patients; right anteiror paraseptal, four patients; left anteiror, three patients. Nineteen of 23 patients underwent echocardiographic study. Four of five patients with type A WPW syndrome had abnormal early systolic anterior motion of left ventricular posterior wall. Twelve of 14 patients with type B had abnormal interventricular septal motion characterized by early sytolic posterior motion immediately after inscription of the delta wave. Conclusion : The prevalence rate of preschool children in Jeonbuk province was 2.9/10,000. By the classification according to the electrocardiographic findings, the accessory pathway location was dominant right side than left side. In the echocardiographic study, type A WPW syndrome showed abnormal left ventricular posterior wall motion and type B WPW showed abnormal interventricular septal motion.

• Clinical and Experimental Pediatrics
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• v.50 no.5
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• pp.436-442
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• 2007

Purpose : To promote awareness and efforts by pediatricians to identity and prevent child abuse by investigation of characteristics of victim and types of injury caused by abuse. Methods : A retrospective study was performed with 20 patients who had been diagnosed or suspected as child abuse at Hallym University Hospital from January 1999 to December 2005. The medical records, radiologic documents, and social worker's notes were reviewed to investigate age, sex, visiting time, form of abuse, perpetrator, risk factor, and type of injury. Results : The mean age of the subjects was 2.8 years. Fourteen patients were between 0-1 years old, 2 patients between 1-6 years old, 3 patients between 7-12 years old, and 1 case over 13 years old. The ratio of male to female was 1:1. The majority of these patients (70%) visited via emergency department. Eight five percent of these patients reported with physical abuse, 5% psychological abuse, 5% sexual abuse, and 5% neglect respectively. The suspected perpetrator was the biological father in six cases, the biological mother in three cases, the stepmother in two cases, caregiver in one case, relatives in one case and "unknown" in six cases. Bruise and hematoma (80%) were the most common physical findings. Skull fractures were diagnosed in six cases, long bone fractures in two cases, hemoperitoneum in two cases, subdural hemorrhage in 10 cases, epidural hemorrhages in two cases, subarachnoidal hemorrhages in two cases, and retinal hemorrhages in five cases respectively. Seventeen cases required hospitalization and surgical operations performed were in nine cases. Four patients died and three patients had sequalae such as developmental delay and quadriplegia. Conclusion : Child abuse results in high mortality and morbidity in victims. Therefore early recognition and prevention is very important. Pediatricians should always suspect the possibilities of abuse in cases of fracture, intracranial hemorrhage, abdominal injury, or even any injury to the body. We recommend that the clinical investigation of suspicious children should include a full multidisciplinary social assessment, a skeletal survey and CT or MRI.

• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.512-517
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• 2008

Purpose : Syncope is relatively common in children and adolescents. Among the etiologies of syncope, neurocardiogenical syncope is the most common, but it is often confounded with seizure. We investigated the clinical features of patients under the age of 15 with neurocardiogenical syncope, compared to patients with neurologic disorders including epilepsy. Methods : Among the children who visited the Department of Pediatrics at Cheongju St. Mary's Hospital and Chungbuk National University Hospital from March 2005 to February 2007, we retrospectively analyzed 69 patients whose chief complaint was syncope. We classified the patients by syncope etiology and made comparisons between the neurocardiogenical syncope (NCS) group and the neurological disorders (ND) group regarding to age; location; time and season in which syncope occurred; associated symptoms, including seizures, provocation factors; prodromes; duration of syncope; frequency of previous syncope; birth history; associated disease; past medical history; family history; neurological exam; physical exam; laboratory findings; electrocardiography; electroencephalography (EEG); head-up tilt test; brain CT; and MRI. Results : Among 69 syncope patients, 53 (76.8%) were in the NCS group and 11 (15.9%) were in the ND group. There were no statistically significant differences between the two study groups except for the presence of prodromes and EEG abnormalities. The presence of prodromes in the NCS group was more common than in the ND group [46.9% (23/49) vs. 9.1% (1/11), (P=0.038)]. The EEG abnormality in the ND group was more common than in the NCS group [90% (9/10) vs. 5.8% (3/52), (P<0.01)]. Conclusion : Our study suggests that detailed history-taking, including that concerning prodromes, is important for the accurate diagnosis of neurocardiogenical syncope, and EEG should be obtained if neurological disorders are suggested.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.2
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• pp.181-187
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• 2000

Purpose: The purpose of our study is to provide useful information for the prevalence of obesity by the standard weight for height and the relationship of the body image to dieting methods for weight control in children. Methods: The survey was performed by an anthropometry and a special questionnaire on children in grades 5 to 6 at elementary schools from May to June 1997 in Kwangju city. Results: 1) Selected individuals were categorized into obese, normal, thin by the standard weight for height and body image. The prevalence of obesity by the standard weight for height was 19.5%, normal was 70.5%, thin was 10.1% in males and respectively 10.5%, 66.3%, 23.1% in females. The prevalence of obesity in regards to body image was 18.4%, normal was 58.4%, thin was 23.2% in males and respectively 24.5%, 58.6%, 16.9% in females. 2) The obese body image was 6.8% in normal and thin groups in males and 19.4% in females. The body image of obese children who do not perceive themselves as obese was 32.6% in males and 28.7% in females. 3) The standard body image was 88.8% as realized by themselves, 77.9% when they compared themselves to friends, 62.7% as told by parents, 56.8% as told by friends, and 29.9% when they compared themselves to celebrities. 4) The source of information for dieting treatment was 44% from radio and television, 30% from books, newspapers, magazines, 17% from family and 9% from friends and seniors. 5) The prevalence of dieting according to the standard weight for height was 18.0% in thin, 18.7% in normal and 36.7% in obese group in males and respectively 17.8%, 22.4%, 46.3% in females. There was a statistically significant correlation between males and females (p<0.0005). 6) The prevalence of dieting up to 2 weeks in the thin and normal groups as recognized by weight centile was 17.3% according to body image. The prevalence of dieting up to 2 weeks in the obese groups was 37.2% according to body image (p<0.001). Conclusion: We suggest that many students perceived their body size incorrectly and tried weight control. The incorrect perception of body size seems to cause the problem of failure to thrive, malnutrition etc. It is necessary for further study to find and prevent side effects by unnecessary weight control and to provide proper health education and management about obesity.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.12 no.2
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• pp.165-178
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• 2001

In order to elucidate the biological etiology and the relationship between the ontogenesis of serotonin system and psychopathology in ADHD, plasma serotonin(5-hydroxytryptamine, 5-HT) and 5-hydroxyindoleacetic acid(5-HIAA) were measured and the correlation between the plasma levels of 5-HT and 5-HIAA and age were evaluated in 46 ADHD patients and 18 control subjects. The ADHD patients were composed of 16 combined type, 10 inattentive type, and 20 hyperactive-impulsive type and the control subjects were communication disorders. The results are summarized as follows：1) There was significant difference in plasma 5-HT levels among combined, inattentive and hyperactive-impulsive and control subjects(ANOVA F=4.33, df 3, 60, p<0.05), and post-hoc test using Scheffe method showed significant difference between the combined type and control group. But, post-hoc tests showed no significant differences between combined and inattentive, combined and hyperactive-impulsive, hyperactive-impulsive and inattentive, hyperactive-impulsive and control and inattentive and control groups. 2) There was no significant differences in plasma 5-HIAA levels among the combined, hyperactive- impulsive, inattentive and control groups(ANOVA F=2.08, df 3, 60, p>0.05). 3) Significant difference in 5-HT level was found between the whole ADHD group(N=46) and the control group(N=18)(T=3.10, df 62, p<0.05). But no significant difference in 5-HIAA level was found between the whole ADHD group and the control group(T=1.90, df 62, p>0.05). 4) Plasma 5-HT and 5-HIAA levels showed no significant correlation with TOVA findings(5-HT：omission pearson correlation 0.10, commision 0.23, reaction time 0.01, variability in attention 0.11, all p>0.05, 5-HIAA：omission 0.21, commision 0.15, reaction time 0.09, variability in attention 0.15, all p>0.05). 5) Plasma 5-HT and 5-HIAA levels showed no significant correlation with attention, hyperactivity and impulsivity based on DSM-IV criteria. 6) Plasma 5-HT and 5-HIAA levels showed no significant correlation with age both in ADHD and control group. These findings show that decreased plasma 5-HT level may play a role in the genesis of ADHD, but this finding has no significant correlation with the psychopathology of ADHD. And we could not find any significant differences in ontogenetic processes in 5-HT. Future studies should be focused on the drug effects, family history and prognosis based on the biochemical subtypes(high and low 5-HT group).

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.157-163
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• 2005

Purpose: Dietary protein induced proctocolitis (DPIPC) can be considered as a cause of rectal bleeding or blood streaked stool in otherwise healthy-looking infants in the first several months of life. Failure to appreciate this entity may lead to inappropriate diagnostic or therapeutic intervention. This study aimed to ascertain the clinical features, treatment and prognosis of DPIPC. Methods: We reviewed 13 infants retrospectively, presented with bloody stool in early infancy. They were diagnosed as DPIPC clinically in Pusan National University Hospital from May 2002 to June 2004. Results: Seven males and six females were included. The mean age at onset of bleeding was $96.8{\pm}58.8days$. The mean frequency of hematochezia was $2.6{\pm}2.5$ times a day. Duration from onset of symptom to diagnosis was $35.5{\pm}55.0days$ and duration from onset of symptom to resolution of bleeding was $58.7{\pm}67.0days$. Nine (69.2%) were exclusively breast-fed infants and two (15.4%) were formula-fed infants. All but one infant did not have family history of other allergic diseases. A dietary history of ingestion of cow's milk, nut or shellfish was present in three mothers. Peripheral eosinophil count was normal to slightly elevated (total WBC count $10,555{\pm}3,145/mm^3$, relative eosinophil count $6.3{\pm}3.0%$, absolute eosinophil count $659.0{\pm}532.2/mm^3$). Sigmoidoscopy revealed lymphonodular hyperplasia with surrounding hemorrhagic spots in the rectosigmoid colon in 6 infants. Histopathologic finding of colonic biopsies in 5 infants showed chronic inflammation with lymphoid follicular hyperplasia (5 infants), crypt abscess (3 infants), or mild infiltration of eosinophils (less than 20/high power field) in the lamina propria. Spontaneous resolution of rectal bleeding occurred in all infants without dietary change or medicine. Conclusion: Most infants with DPIPC experience a very benign course and have spontaneous resolution of rectal bleeding without changes in the mother's diet. In the case of strong evidence for DPIPC we suggest deferring further invasive investigation and continuing breast feeding.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.122-129
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• 2005

Purpose: Eosinophilic colitis is a disease characterized by gastrointestinal symptoms, peripheral eosinophilia, eosinophilic infiltration of the colonic wall. The etiology and pathogenesis of this disease is not clear and it is considered to be idiopathic. This study aimed to ascertain the clinical features, treatment and prognosis of eosinophilic colitis in early infancy. Methods: We reviewed 6 infants retrospectively, presented with bloody stool in early infancy, who were diagnosed with eosinophilic colitis in Pusan National University Hospital between August 2002 and February 2004. Results: Five males and one female were included. The mean age when bloody stool was identified was $79.2{\pm}56.1$ days (10~145 days). All but one infant with atopic dermatitis did not have other allergic diseases. Nobody had a family history of allergic disease. No specific dietary history in infants and their mothers related to food allergy was identified. Peripheral eosinophilia (total WBC count $11,763{\pm}3,498/mm^3$, eosinophils $17.0{\pm}4.3%$, absolute eosinophil count $2,044{\pm}996/mm^3$) was observed in all infants. Colonoscopy in six infants revealed diffuse erythema, congestion and granulation pattern of mucosa in the rectosigmoid colon. Histopathologic findings of colononic biopsies showed chronic inflammation with severe eosinophilic infiltration in the mucosa. Two infants were treated with hydrolyzed casein-based formula and four infants with prednisolone. Gastrointestinal symptoms and peripheral eosinophilia resolved completely with prednisolone and partially with a hydrolyzed casein-based formula. Relapse was not observed during the follow-up period. Conclusion: Our study demonstrated that there is no evidence of a definite relationship between eosinophilic colitis and food-allergic disorders. Clinical course and prognosis of infantile form of eosinophilic colitis is very favorable and treatment with prednisone was effective.