• Clinical and Experimental Pediatrics
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• v.48 no.9
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• pp.969-975
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• 2005

Purpose : We performed a study of clinical findings of Mycoplasma Pneumonia in children, to know differences between recent clinical manifestations of Mycoplasma pneumonia and previous studies. Methods : The subjects of this study were 393 children who were diagnosed as Mycoplasma pneumonia with high titers of Mycoplasma antibody(${\geq}1$ : 160) or fourfold rises of Mycoplasma antibody at Chung Ang University Hospital from January 1998 to December 2003. We practiced a retrospective study on the clinical manifestations of Mycoplasma pneumonia based on their medical records. Results : Male to female ratio was 1.06 to 1 and mean age was $4.32{\pm}2.94years$. The highest incidence was in the age of 2 to 3 years(18.6 percent). Most frequent months were October, and November in 2000, April in 2002, and October and, December in 2003. Twenty six point seven percent showed allergic diseases. Second degree relatives of 10.7 percent patients had allergic diseases. Forty three point three percent were admitted before this admission for pneumonia. Allergic tests were positive in 65.7 percent. Cough, and sputum were the most common symptoms and abdominal pain, and vomiting were the most frequent extrapulmonary symptoms. Atelectasis and pleural effusion were seen in 2.5 percent and 1.8 percent. Infiltrations were more common on the right side. Titers of each simultaneous test for cold agglutinin and mycoplasma antibody were not in proportion to each other (P=0.163). Conclusion : The onset age of mycoplasma pneumonia was found to be lower than it used to be. More patients had a past medical history or a family history of allergic disease, and more wheezing was heard and associated with recurrent pneumonia.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.592-597
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• 2010

Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene ($stat3$) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant $Staphylococcus$ $aureus$) and $Pseudomonas$ $aeruginosa$. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count ($750/{\mu}L$) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.

• The Journal of Korean Medicine
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• v.15 no.2 s.28
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• pp.9-27
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• 1994

This study is to analyze of senile disease status and the social problem according to increased old ages, and then to find distributions of old man's diseases and health status efficiency of oriental-occidental contemporary health examination. And it is the first oriental-occidental contemporary health examination of old man performed by JeonJu Woosuk University Oriental Medicine Hospital and Woosuk-Clinic in nation. Methods The objects in this research are 641's old man of KimJe Gun's over 60's years performed medical examination at JeonJu Woosuk University Oriental- Mmedicine-Hospital and Woosuk-Clinic by oriental-occidental medical contemporary exam., from 1994, 24th June till 1994. 13th July. The 1st occident medical examination methods were consisted of chest x-ray check. blood and urine exam., measurement of blood pressure, visual power and audiometry. The Oriental medical examination methods were consisted of four diagnostics (望,聞,問,切), present illness. chief complaint, past history, families history, social history by question and SA Sang constitution test index. The results and conclusions The results and conclusions are the next: 1. In order of distribution. the athletic disease (75.8%),the digestive disease(43.4%), the circulatory disease(41.5%), the respiratory disease(22.3%), EENT disease(8.1%), the endocrinopathy(5.6%), and the genito-urinary disease(5.3%) are the results of the object about 641's old man, by the oriental-occidental medicine's contemporay exam. 2. Distribution of disease distiction are lumbago. gastritis and peptic ulcer. knee joint pain. heart disease. hypertension. chronic bronchitis. asthma. anemia. DM. Tbc. visual disturbance. CVA. etc in order. 3. Disease distribution according to age is almost high incident in 60-75years. Disease incidence is decreased except E.E.N.T disease in over 76years. 4. The relationships of disease and family history are: the 25.0% of CVA pts. has family history and the 11.6% of hypertension pts has family history. so they showed high relative family history. In addition the 5.6% of TBC pts. and the 2.6% of DM pts. have family history. 5. The relationships of disease and drinking are: Drinking proportion is the 36.4% in respiratory disease pts. the 34.7% in hypertension pts. the 33.3% in heart disease pts.. the 28.4% in digestive disease pts.. but because of no surveying drinking amount we can't know the absolut relationships of disease and drinking. 6. The relationships of Disease and smoking are: Smoking proportion is the 44.1% in respiratory disease pts.. the 38.0% in Heart disease pts.. the 29.8% in Hypertension pts.. but because of no surveying of smoking amount. we can't know the absolut relationships of disease and smoking. 7. Distribution of Sasang constitution is : Tae-eum-in 44.8%. So-yang-in 30.7%. So-eum-in 24.6%. Tae-yang-in 0.0%. And disease distribution of Sasang constitution distinction is ; Tae-eum-in has high incidence of circulation disease(50.0%) and respiratory disease(23.1%).So-yang-in has high incidence of athletics disease(77.7%) and EENT disease(12.2%), So-eum-in has high incidence of digestive disease(65.8%). 8. Distribution of abnormal result in occidental medical examination and oriental-occidental contemporal exam result is considerably different. This is the reason of needing oriental medicine exam, for characteristics of Senile. I think that the oriental-occidental contemporary examination in old man is much more effecient than only occident medical examination. This oriental-occidental contemporary examination has many defects because it is the first practice. To participate in the public health program efficiently. I think that we must improve lots of problems and present the model of the oriental-occidental contemporary examination and the project of oriental medicine's for public health.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.15 no.2
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• pp.160-167
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• 2004

Objectives : There have been very few studies on the compliance of methylphenidate-immediate releasing form(MPH-IR), which is the most frequently used drug in Korea, in Attention Deficit Hyperactivity Disorder(ADHD). This study was conducted to investigate the compliance rate and the related factors in the one year pharmacotherapy process via OPD for children with ADHD. Method : Total 100 ADHD patients were selected randomly among patients who have been treated with MPH-IR from September in 2002 to December in 2002. All the selected patients were diagnosed with DSM-IV-ADHD criteria and fulfilled the inclusion criteria. In March, 2003(at the time of 6 month treatment), all the patients and parents received the questionnaire for the compliance and satisfaction for MPH-IR treatment. In October 2003(at time of 1 year treatment), we, investigators evaluated the socio-demographic variables, developmental data, medical data, family data, comorbid disorders, treatment variables, and compliance rate. Through these very comprehensive data, The compliance rate at the time of mean 1 year treatment and the related factors were investigated. Result : 1) In the questionnaire for compliance and satisfaction for MPND treatment, the 60% of respondents(parents) reported more than moderate degree of satisfaction in the effectiveness of MPND. Their compliance rate for the morning prescription was 81%, but the rate of afternoon prescription was 43%. 2) In the evaluation at the time of 1 year treatment(October 2003), the 38% of parents were dropped out from the OPD treatment. The mean compliance rate for the 1 year treatment was 62%. the 38% of parents were dropped out from the OPD treatment. The mean compliance rate for the 1year treatment was 62%. 3) Compared with the noncompliant group(drop-out group), compliant group showed higher total, verbal and performance IQ scores. In the treatment variables, higher reposponder rate(clinician rating), higher medication dosage and more compliance rate in afternoon prescription were found in the compliant group compared with the noncompliant group. There were no statistical differences in the demographic variables(age, sex, SES, parental education level), medical data, developmental profiles and academic function. Conclusion : To our knowledge, this is the first report about the compliance rate of the MPH-IR treatment for the children with ADHD. The compliance rate at the time of mean 1year treatment was 62%, which was comparable with other studies performed in foreign countries, especially States. In this study, the compliance related factors were IQ score, clinical treatment response, dosage of MPH-IR, and early compliance for the afternoon prescription. These results suggest that clinician plan the strategies for the promotion of the early compliance for the after prescription and enhancement of overall treatment response.

• Clinical and Experimental Pediatrics
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• v.52 no.11
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• pp.1260-1266
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• 2009

Purpose : Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown. Methods : In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment length polymorphism and analyzed the correlation between the genotypes and clinicopathologic features of the patients. Results : Eighty patients (42.1%) were initial steroid nonresponders, of which 31 (16.3% of the total) developed end-stage renal disease during follow-up. Renal biopsy findings of 133 patients were available, of which 36 (31.9%) showed minimal changes in NS and 77 (68.1%) had focal segmental glomerulosclerosis. The distribution of the BclI genotypes was comparable between the patient and control groups, and the G allele frequencies in both the groups were almost the same. The ER22/23EK and N363S genotypes were homogenous as ER/ER and NN, respectively, in all the patients and in 100 control subjects. The BclI genotype showed no correlation with the NS onset age, initial steroid responsiveness, renal pathologic findings, or progression to end-stage renal disease. Conclusion : These data suggested that the ER22/23EK, N363S, and BclI SNPs in the NR3C1 gene do not affect the development of NS, initial steroid responsiveness, renal pathologic lesion, and progression to end-stage renal disease in Korean children with NS.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.2
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• pp.208-214
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• 2004

Purpose: The prognosis of neonates with cholestasis is not clear. Some factors, such as high peak bilirubin levels and liver histologic findings have been claimed to affect the prognosis adversely. Our study aims to define which factors influence the prognosis of neonatal intrahepatic cholestasis. Methods: Retrospective reviews of the medical records were performed in 32 cases with neonatal intrahepatic cholestasis, who were admitted to Department of Pediatrics, Pusan National University Hospital from July 1995 to July 2002. Neonates were classified into 2 groups according to the duration of elevated serum alanine aminotransferase (ALT) levels more or less than 6 months. The data, such as biochemical, histopathologic and radiologic findings, were compared in both groups. Biochemical data included mean peak level of serum ALT, total bilirubin, direct bilirubin, and alkaline phosphatase. Histologic parameters related to lobular architecture, fibrosis, inflammatory infiltration and degenerative features of hepatocytes were arbitrary estimated on a scale of 1 to 3. Results: There were 19 males and 13 females, whose mean age was 48 days (14~77 days). The peak serum ALT levels were higher in the poor outcome group. Ductular proliferation and portoportal bridging were more severe in the poor outcome group. But the degree of multinucleated hepatocytes, hepatocellular swelling and canalicular plug did not appear to be significantly related to the long-term outcome. The DISIDA scintigraphy by visualization time of gall bladder and intestine was not useful in predicting outcome of neonatal intrahepatic cholestasis. Conclusion: Neonates who have intrahepatic cholestasis with high serum ALT levels, severe ductular proliferation and portoportal bridging in the liver biopsy specimen should be carefully followed up because they may have a poor prognosis.

• Pediatric Infection and Vaccine
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• v.13 no.1
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• pp.71-77
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• 2006

Purpose : Shigellosis is still an important cause of acute food-borne diarrheal diseases throughout the world. We investigated the transmission routes and clinical course through the outbreak of shigellosis in Mapo-Gu, Seoul. Methods : From October 7th to November 19th in 2005, Mapo-Gu public health center had referred 32 patients with confirmed or suspected shigellosis to the National Medical Center. We had investigated source of infection, epidemiology, laboratory findings, and clinical course of the cases occurred during this outbreak. Results : Among 32 patients, 24 patients had been confirmed with shigellosis, 8 patients had been diagnosed with suspected shigellosis. They ranged in age from 5 months to 12 years old and their mean age was 6.5 years. The clinical manifestations were as follows; diarrhea, fever, abdominal pain and asymptomatic condition. Symptoms had sustained for 3.7 days on the average. S. sonnei were cultured by rectal swab and founded to be resistant to ampicillin and TMP/SMX except to 3rd generation cephalosporin. After treatment with antibiotics such as cefixime and ceftriaxone or imipenem and conservative treatment with electrolyte and fluid replacement for 5~7 days, Stool cultures of the rectal swab grew no Shigella in these cases except 3 cases. Conclusion : An outbreak of shigellosis had occurred in a preschool and elementary school children. From the same results of antimicrobial susceptibility and pulsed-field gel electrophoresis patterns in this study, we suggest that the outbreak of shigellosis in this report had been originated from a single strain. According to all negative results about suspected food and water cultures, we couldn't find out source of infection. Through materials offerred by Mapo-Gu Public Health Center, we presumed the trasmission routes probably were person-to-person.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.370-375
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• 2002

Purpose : In most cases, myelodysplastic syndrome(MDS) transforms into a more aggressive state or acute myelogenous leukemia; it's prognosis is very poor. It is believed that hematopoietic stem cell transplantation(HSCT) is the only curative treatment of MDS, but available data in children are very sparse. In this report, the short term outcome of HSCT in childhood MDS was analyzed. Methods : Ten children with MDS(CMMoL 5, RAEB 3, RAEBt 2) underwent HSCT(HLA-matched sibling transplantation 4, HLA-matched unrelated transplantation 4, cord blood transplantation 1, HLA-mismatched familial transplantation 1) between November 1995 and January 2001 at St. Mary's Hospital. Median follow-up duration was 11 months. Results : Engraftment was successful in all cases and 8 patients are alive without disease. Three cases of VOD were observed and improved without complication. Four cases of grade II and 1 case of grade III acute GVHD were observed and well controlled with treatment. Three patients relapsed after transplantation. One patient is alive without disease after cytoreduction with allogenic stem cell rescue and 2 patients died of relapse. Conclusion : HSCT is a curative strategy of MDS and the survival rate is relatively higher than that of adults. But there is an obvious need for more studies because of the small number of patients and the short duration of the follow-up.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.199-204
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• 2009

Purpose : Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with complex febrile seizures, using analyses of urine organic acids. Method : We retrospectively analyzed and compared the results of urine organic acid analysis with routine laboratory findings in 278 patients referred for complex febrile seizure. Results : Of 278 patients, 132 had no abnormal laboratory findings, and 146 patients had at least one of the following abnormal laboratory findings: acidosis (n=58), hyperammonemia (n=55), hypoglycemia (n=21), ketosis (n=12). Twenty-six (19.7 %) of the 132 patients with no abnormal findings and 104 (71.2%) of the 146 patients with statistically significant abnormalities showed abnormalities on the organic acid analysis (P<0.05). Mitochondrial respiratory chain disorders (n=23) were the most common diseases found in the normal routine laboratory group, followed by PDH deficiency (n=2) and ketolytic defect (n=1). In the abnormal routine laboratory group, mitochondrial respiratory chain disorder (n=29) was the most common disease, followed by ketolytic defects (n=27), PDH deficiency (n=9), glutaric aciduria type II (n=9), 3-methylglutaconic aciduria type III (n=6), biotinidase deficiency (n=5), propionic acidemia (n=4), methylmalonic acidemia (n=2), 3-hydroxyisobutyric aciduria (n=2), orotic aciduria (n=2), fatty acid oxidation disorders (n=2), 2-methylbranched chain acyl CoA dehydrogenase deficiency (n=2), 3-methylglutaconic aciduria type I (n=1), maple syrup urine disease (n=1), isovaleric acidemia (n=1), HMG-CoA lyase deficiency (n=1), L-2-hydroxyglutaric aciduria (n=1), and pyruvate carboxylase deficiency (n=1). Conclusion : These findings suggest that urine organic acid analysis should be performed in all patients with complex febrile seizure and other risk factors for early detection of inherited metabolic diseases.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.34-41
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• 2016

Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.