• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.15 no.2
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• pp.178-184
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• 2004

Objectives : This study was conducted to investigate the association of the COMT polymorphism with the TD in Korean sample of families with TD probands. The relationship between risk alleles and specific clinical features (tic severity, comorbidity, drug response) was also explored. Method : Patients were recruited from the Tic Disorder clinic at the Child & Adolescent Psychiatric Division of Seoul National University Hospital and assessed through 2 stage evaluation. Firstly, all the patients and parents received semistructured interview using Korean version of K-SADS-PL. Secondly all the patients received clinical interview and tic severity assessment with Korean version of YGTSS. The subjects in control group were recruited from the health promotion center in out hospital and were evaluated by SCL-90 and SCID-IV. Through these process, total of 42 children and adolescents with TD, their 84 parents and 86 control subjects were finally recruited. Genotyping for The Val158Met polymorphism of the COMT gene was done by standardized method. After collection of genetic data of all the patients, parents and control subjects, case-control comparison and tranmission dysequilibrium test was executed by SPSS version 11. Result : From the case-control comparison, the frequency of L-allele and LL genotype was significantly higher in TD group. However, no differences were found from the TDT. No significant differences were found in in family history of tic, ADHD, OCD, drug response and comorbid conditions among the three different genotypes in patients with TD. Conclusion : Though this study results should be interpreted cautiously due to small sample size and negative finding in TDT test, this study is the first report that there is positive association between the functional polymorphism of COMT gene the TD.

• Sleep Medicine and Psychophysiology
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• v.16 no.2
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• pp.85-90
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• 2009

Introduction: There has been an increasing interest in the relationship between sleep and suicidality. In addition, suicidal patients habitually report their sleep problems. Although sleep-related complaints and electroencephalographic changes are generally encountered in psychiatric disorders, sleep complaints such as insomnia, hypersomnia and nightmares are more common in suicidal patients. In current study, we aimed at investigating the relationship between self-reported sleep duration and suicidality in general population. Methods: One thousand general population (male:female=500:500, mean age=$39.6{\pm}11.6$ years, ranged age=20-77 years) completed Center for Epidemiologic Study-Depression (CES-D), Beck Suicide Intent scale (BSI), Spielberger State-Trait Anger Expression Inventory (STAXI), Barratt Impulsiveness Scale (BIS), Morningness-Eveningness Scale (MES) and brief questionnaire of sleep habits. Results: After controlling for age and sex, score of BSI was correlated positively with the score of CES-D, STAXI and BIS on partial correlation analysis ($r_p$=0.251; p<0.001, $r_p$=0.352; p<0.001, and $r_p$=0.175; p<0.001, respectively). In addition, score of BSI was inversely correlated with the score of MES (rp=-0.066; p=0.037). However, score of BSI showed no significant correlation with sleep duration. However, regression analysis revealed that short (<6 hrs) or long (>10 hrs) sleep duration, the family history of psychiatric illness, the score of CES-D, and the score of STAXI predicted higher score of BSI significantly in total subjects (F=17.837, adjusted $R^2$=0.166; p=0.003, p=0.003, p<0.001, and p=0.003, respectively). This model was explained better in depressed subjects with 16 or higher score of CES-D (F=9.920, adjusted $R^2$=0.298). Conclusion: Current result suggested that not only short sleep duration (<6 hrs) but also long sleep duration (>10 hrs) might be related to suicidality.

• Journal of Genetic Medicine
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• v.6 no.2
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• pp.175-178
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• 2009

The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.96-102
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• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.12 no.2
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• pp.192-217
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• 2001

Object：This study was carried out to classify adolescents in runaway shelters by evaluating their psychopathology. And the ultimate purpose is to offer basic data for preventing adolescents‘ runaway and for diversifying runaway shelters suitable for the problem of individual adolescent. Method：128 adolescents who stay in the runaway shelters were asked to complete self-report qeustionnaires including basic sociodemographic data, Child Behavior Check List(CBCL), Minnesota Multiphasic Personality Inventory(MMPI), and Symptom Check List-90-Revised(SCL-90-R). Korean Wechsler Adult Intelligence Scale(K-WAIS)[or Korean Educational Developmental Institute-Wechsler Intelligence Scale for Children(KEDI-WISC)] and Bender-Gestalt test(BGT) were also done by clinical psychologists. Results：The most common age of the subjects were 15-year-old, and they dropped out their schools in the middle school most commonly. Mostly they were from middle class family and their parents' educational level were high school graduates. The first runaway episode was most common in the middleschool period, and their runaways were repeated. The most common frequency of runaways were more than 10 times. About 10% of them abused drugs and about 80% of them abused alcohol. One third of them had experiences of illegal problems and 10% of them engaged in sexual activity for money. 95 adolescents(83%) in CBCL, 42 adolescents(36%) in SCL-90-R, and 70 adolescents(69.3%) in MMPI showed clinical significance. In intelligence test, 22 adolescents(22%) were mentally retarded. In BGT, 35 adolescents(39.4%) manifested brain dysfunction signs. Conclusion：Runaway adolescents in the shelters have variable and severe psychopathology. Their psychopathology is classified as follows；The behavior disorder group, the mood disorder group with anxiety/depression, the somatic disorder group with somatic symptoms, and the psychosis group with possibility of severe psychopathology. Therefore it is very important to evaluate psychiatric problems of runaway adolescents, and specific therapeutic interventions according to their problems are required.

• Clinical and Experimental Pediatrics
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• v.45 no.11
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• pp.1389-1396
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• 2002

Purpose : This study was done to analyze the changes in the clinical conditions and the diagnosis of hypertrophic pyloric stenosis. Methods : We report a retrospective clinical analysis of 39 patients with hypertrophic pyloric stenosis from Jan. 1992 to Aug. 2001. The age and sex distribution, family and birth history, clinical symptoms, the ultrasonographic and the operative sizes of pyloric canals were compared. Results : The body weight was below the 3 percentile at admission in eight cases(20.5%). "Olive like mass" in right upper quadrant was palpated during physical examination in 23 cases(59%) and gastric peristaltic wave observed in six cases(15%). The ultrasonographic measurements showed that the pyloric muscle thickness to be $4.95{\pm}0.99mm$($mean{\pm}SD$), pyloric diameter $14.42{\pm}2.64mm$, and pyloric length $20.17{\pm}3.92mm$. Fredet-Ramstedt pyloromyotomy was employed in all cases. The operative measurements of the pyloric muscle thickness was $5.11{\pm}1.01mm$, pyloric diameter $15.01{\pm}2.47mm$, and pyloric length $22.32{\pm}3.43mm$. Conclusion : There was no significant difference between the ultrasonographic and operative measurements. Currently, the hypertrophic pyloric stenosis patients showed lesser clinical hallmarks of the disease. The earlier diagnosis using imaging studies before development of significant metabolic abnormalities is becoming an important factor that change the future outcomes of hypertrophic pyloric stenosis.

• Journal of Hospice and Palliative Care
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• v.13 no.3
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• pp.181-189
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• 2010

Purpose: Recently, health policy making is increasingly based on evidence. Therefore, Korean Terminal Cancer Patient Information System (KTCPIS) was developed to meet such need. We aimed to report its developmental process and statistics from 6 months data. Methods: Items for KTCPIS were developed through the consultation with practitioners. E-Velos web-based clinical trial management system was used as a technical platform. Data were collected for patients who were registered to 34 inpatient palliative care services, designated by Ministry of Health, Welfare, and Family Affairs, from $1^{st}$ of January to $30^{th}$ of June in 2009. Descriptive statistics were used for the analysis. Results: From the nationally representative set of 2,940 patients, we obtained the following results. Mean age was $64.8{\pm}12.9$ years, and 56.6% were male. Lung cancer (18.0%) was most common diagnosis. Only 50.3% of patients received the confirmation of terminal diagnosis by two or more physicians, and 69.7% had an insight of terminal diagnosis at the time of admission. About half of patients were admitted to the units on their own without any formal referral. Average and worst pain scores were significantly reduced after 1 week when compared to those at the time of admission. 73.4% faced death in the units, and home-discharge comprised only 13.3%. Mean length of stay per admission was $20.2{\pm}21.2$ days, with median value of 13. Conclusion: Nationally representative data on the characteristics of patients and their caregiver, and current practice of service delivery in palliative care units were obtained through the operation of KTCPIS.

• Tuberculosis and Respiratory Diseases
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• v.45 no.6
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• pp.1154-1166
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• 1998

Background : In the management of patients whose primary chemotherapy has failed, careful assessment is essential. It is important to find out as accurate a chemotherapy history as possible. Preferably it should contain the drugs which has never used before. The purpose of present study is establishment of retreatment regimen for pulmonary tuberculosis. The present report concerns the results of retreatment of pulmonary tuberculosis patients treated at National Masan Tuberculosis Hospital. Methods : Retrospective cohort study was made of 104 drug-resistant pulmonary tuberculosis patients who were treated by five regimens between Jan. 1994 and Nov. 1996. All the patients taken medicine for second anti-tuberculosis regimens for the first time. We separated the patients by three groups(Group I ; OFX+PTA+CS+PAS+Aminoglycoside, Group II : PZA+PTA+CS+PAS+Aminoglycoside, Group III : PZA+OFX+PTA+PAS+Aminoglycoside). Results : The age distribution was most frequent in fourth decade(36patients, 34.6%) and the mean age was 42.6 year. The sex distribution was more frequent in the males(81 patients, 85.7%). There was 31 patients(29.8%) with combined diseaes, 18 patients with complication and 24 patients(27.9%) with family history. Primary chemotherapy regimens were HERZ(S or K) in 48 patients (46.2%), HER(S or K) in 41 patients(39.4%) and others in 15 patients(14.4%). Result of drug sensitivity test showed that the resistance to INH and RFP is in 68 patients(65.4%), RFP is 12 patients(11.5%), INH is in 3 patients(2.9%) and all sensitive to INH and RFP is 3 patients(2.9%). The clinical symptoms on admission were coughing(89.4%), sputum(69.2%), dyspnea on exertion(37.5%), weight loss(33.7%) blood tinged sputum(15.4%) and others. The extent of disease on the radiograph was far-advanced in 73 patients(70.2%), moderate in 28 patients(26.9%) and minimal in 3 patients(2.9%). The side effects for drugs were gastrointestinal troubles in 31 patients(29.8%), arthralgia in 22 patients(21.2%), skin rash in 12 patients(11.5%) and others. The negative conversion rate on sputum AFB smear was 85.6%(87.5% in Group I, 80.0% in Group II and 90.5% in Group III). The average negative conversion time on sputum was 4 month(4.0 month in Group I, 4.6 month in Group II and 3.0 month in Group III). Conclusion : In the retreatment of pulmonary tuberculosis, ofloxacin is useful drug for the patients who are not available to use PZA and combination of PZA and OFX can be use effectively substituting for CS.

• Neonatal Medicine
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• v.15 no.1
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• pp.44-53
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• 2008

Purpose : Epidemic keratoconjunctivitis (EKC) caused by adenovirus is a highly contagious disease, which has been reported as outbreaks involving adults in the community. However, there has been no report on EKC outbreak by adenovirus in a neonatal intensive care unit (NICU) in Korea. Aims of this study were to investigate the EKC outbreak by adenovirus type 8 in NICU and to confirm an effectiveness of polymerase chain reaction (PCR) for diagnosis. Methods : Conjunctival swab or nasopharyngeal aspirate specimens were taken from all patients and tested by viral culture and PCR. Adenovirus serotype was determined by sequencing of PCR product of selected region of hexon gene using the virus isolates or specimens. Results : An outbreak of EKC occurred which was involving 12 preterm infants in the NICU of the Seoul National University Children's Hospital between July 12th and August 1st, 2005. Three hospital staffs and one family member of the neonate were also affected. Adenovirus was detected in 12/12 (100%), 6/11 (54.5%) by PCR and virus culture, respectively. Eleven PCR-positive neonates were identified as serotype 8 by sequencing. The first affected 4 babies have had routine ROP (retinopathy of prematurity) examinations one week ago. While previous outbreaks were sustained for a few months, the event in our unit was controlled without complications in 3 weeks. Conclusion : We analyzed the EKC outbreak by adenovirus type 8 in NICU. Adenovirus serotype was identified by PCR and sequencing with high sensitivity for the first time in Korea, so we suggest this method can be very useful for rapid diagnosis and infection control.

• Journal of Life Science
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• v.15 no.6 s.73
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• pp.994-1004
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• 2005

The dihydrofolate reductase (dhfr) promoter contains cis-acting element for the transcription factors Spl and E2F. Transcription of dhfr gene shows maximal activity during the Gl/S phase of cell cycle. The member of the Spl transcriptional factor family can act as both negative and positive regulators of gene expression. There was a report that Spl-Rb and E2F4-pl30 complexes cooperate to establish stable repression of dhfr gene expression in CHOC400 cells. Here, we examined the role of HDAC in dhfr, cyclin E, and cyclin A gene regulation using the histone deacetylation inhibitor, trichostatin A (TSA) in U2OS and C33A cells, a Rb-positive human osteosarcoma cell line, and a Rb-negative cervical carcinoma cell line, respectively. When the dhfr promoter constructs were applied in U2OS cells, TSA markedly stimulated over 14-fold of dhfr promoter activity through dhfr-Spl sites by the deletion of an E2F element. In contrast, the deletion of dhfr-Spl binding sites completely abolished promoter stimulation by TSA. The dhfr promoter activity including dhfr-Spl sites increased only 2-fold in C33A cells. Promoter activity containing only dhfr-E2F site did not have much effect by the treatment of TSA in both U2OS and C33A cells. On the other hand, treatment with TSA induced significantly mRNA expression of dhfr and cyclin E, whereas levels of cyclin A decreased in U2OS cells, but had no effect in C33A cells. These results indicate that TSA have contradictory effect, activation of dhfr and cyclin E genes on Gl phase, and down-regulation of cyclin A on G2 phase through transcriptional regulation in U2OS cells.