• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.103-108
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• 2017

Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.119-124
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• 2011

Purpose: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. Materials and Methods: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. Results: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. Conclusion: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.

• Journal of Life Science
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• v.23 no.6
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• pp.812-824
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• 2013

Reserpine, an anti-hypertensive drug, is able to positively modulate several phenotypes associated with $A{\beta}$ toxicity in a Caenorhabditis elegans model of Alzheimer's disease (AD). We investigated into the therapeutic effects of reserpine on mammalian neurodegenerative disorders, and found that significant alteration of the key factors influencing AD was detected in Tg2576 mice after reserpine treatment for 30 days. The aggressive behavior of Tg2576 mice was significantly improved upon reserpine treatment, whereas their social contact was consistently maintained. Furthermore, the levels of $A{\beta}$-42 peptide in the hippocampus of the brain and blood serum were lower in the reserpine-treated group than in the vehicle-treated group. Among g-secretase components, the expression levels of PS-2, Pen-2, and APH-1 were slightly lower in reserpine-treated Tg2576 mice, although a significant change in nicastrin (NCT) expression was not detected. Furthermore, the serum level of nerve growth factor (NGF) increased in reserpine-treated Tg2576 mice compared with vehicle-treated mice. Among down-stream effectors of the NGF receptor TrkA signaling pathway, reserpine treatment induced elevation of TrkA phosphorylation and reduction of ERK phosphorylation. In addition, in the NGF receptor $p75^{NTR}$ signaling pathway, the expression levels of $p75^{NTR}$ and Bcl-2 were enhanced in reserpine-treated Tg2576 mice compared with vehicle-treated mice, whereas the expression level of RhoA declined. Overall, these results suggest that reserpine can help relieve AD pathogenesis in Tg2576 mice through downregulation of $A{\beta}$-42 deposition, alteration of ${\gamma}$-secretase components, and regulation of NGF metabolism.

• Korean Journal of Psychosomatic Medicine
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• v.28 no.1
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• pp.8-19
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• 2020

Objectives : The purpose of this study was to examine whether the MMPI-2-RF serves as a useful tool to differentiate between the subtypes of high risk of suicide among psychiatric outpatients. Methods : Patients were recruited from the department of psychiatry of university hospital. Participants were diagnosed using DSM-5 criteria by board certified psychiatrists. Their medical records were reviewed retrospectively. And participants were put into 4 groups (Suicide ideation, Suicide attempt, Non-suicidal self-injury, and general psychiatric diagnosis as a control group). For statistical comparison, the MANCOVA with gender as a covariate was used. Results : The results indicated that as previous research with non-clinical sample suggested, psychiatric outpatients with high suicide risk also have significantly higher Emotional/Internalizing Dysfunction, Helplessness/Hopelessness, Suicidal/Death Ideation, Demoralization, Cognitive complaints, Cynicism, Dysfunctional negative thoughts than general psychiatric patients group. But group differences within the high suicide risk patients have not been observed. However, suicide attempt group and NSSI group has higher Behavioral/Externalizing Dysfunction, RC4, AGG than general psychiatric patients group. But there was no difference between suicidal idea group and general psychiatric patients group. Conclusions : There was no group difference observed between all three subtypes, which mean the MMPI2-RF may not be the useful diagnostic tool to navigate high suicide risk subtypes. Even though there was no difference observed in the suicide ideation group, suicide attempt group and NSSI group have higher aggression and externalization. So those indexes could serve as a useful marker to investigate riskiness of suicide related symptoms.

• Korean Journal of Health Education and Promotion
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• v.25 no.5
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• pp.39-51
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• 2008

The objectives of this study were to analyze the socio-economical factors related to smoking and drinking behaviors using the Korea Welfare Panel data. The key variables were sex, age, frequency of health and medical facilities visit, subjective health level, smoking level, drinking level, depression symptoms, and low income level. Since the health variables in the Welfare Panel data were limited, the analysis was exploratory. In male population of those older than 30 years old, low income group people were more likely to smoke cigarettes than the general income population. In the result of the Chi square analysis, the smoking rate showed significantly different relationships with the different age groups, gender and income level. According to the descriptive analysis, persons with low income level were more likely to experience health risk behaviors and showed more medical service utilization. The utilization of the local public health centers was 4.6% for the Bow income level and 1% for the general level. The higher smoking rate was associated with the younger age, and the lower income. The smoking rate in the age category from 20 to 29 was 23.3% for the general level and 25% for the low income level. On the other hand, the drinking rate was even higher in the general families. The rates of non use of alcohol was 36.7% in the general families and 58.4% for the low income families. For both smoking and high risk drinking issues, demographic and sociological variables such as sex, age, education levels and income levels were analyzed, and there wer significant relationships. Health risk factors were serious for males, with age groups of 20's and 30's, lower education level, and in a low income family. In general, females were more unhealthy. The rates of smoking and drinking were higher in the low income level. Even in the health and nutrition survey results in 2005, persons in the low income class were experiencing poorer health in health level or the degree of action restriction. Since the effects of the health promotion could not be measured in a short period of time, it has not been easy to create the basis for the substantial effects. Factors related to health risks needs to be continuously studied using data from diverse field.

• Korean Journal of Psychosomatic Medicine
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• v.12 no.1
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• pp.76-85
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• 2004

Objectives: The purpose of the present study was to investigate the emotional state and personality characteristics of patient with panic disorder. Methods: Twenty patients with panic disorder, 21 patients with somatoform disorder, and 20 normal healthy controls were studied. Korean version of Beck Depression Inventory(BDI), State and Trait Anxiety Inventory(STAI) and Korean standardized edition of Cattell's 16 Personality Factors Questionnaire(16-PF) were used for assessment. Statistically, One-way ANOVA with Scheffe test were used by SPSS/PC for windows. Results: 1) Total score of BDI was higher in the panic group than the somatoform group and normal control group(p<0.001). 2) Total score of state anxiety and trait anxiety in the panic group was higher than the somatoform group and normal control group(p<0.001). 3) In 16 PF, there were no definitely abnormal range of scores. But in first-stratum source traits of 16PF, the panic group was higher than the somatoform group and normal healthy group in O-factor (p<0.01) and Q4-factor(p<0.001). In second-stratum source traits of 16PF, the panic group was higher than the somatoform group in ANX-factor(p<0.05), but lower than normal control group in TOUfactor(p<0.05). 4) There were no differences in the panic subgroup according to sex and cutoff points of BDI score 16 and STAI-T score 54. 5) According to cutoff point of STAI-S score 52, the panic subgroup above 52 was higher than the panic subgroup under 52 in G-factor(p<0.001), Q3-factor(p<0.05) and SUP-factor(p<0.001), but lower in L-factor(p<0.05). Conclusion: These results suggest that emotional state of patients with panic disorder are depressive and anxious as compared with patients with somatoform disorder and normal controls. Patients with panic disorder did not show any abnormal personality characteristics but were more guilt-prone, anxious, emotionally sensitive. We propose that the understanding of panic patients' emotional state and personality characteristics will helpful to treat and manage in patient with panic disorder.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.17 no.1
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• pp.32-39
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• 2006

Objectives : The aim of this study was to examine the developmental and clinical characteristics associated with nocturnal enuresis in Korean children. Methods : Three hundred eighteen children with nocturnal enuresis, together with their parents, completed a parent questionnaire consisting of a Child Behavior Checklist(CBCL). Data related to the prenatal, perinatal and developmental history, past and current medical history were collected. Ninety-three normal students were selected as the control group. Results : The nocturnal enuresis group attained diurnal and nocturnal urinary control significantly later than those in the normal control group.49.2% of the children with nocturnal enuresis had the family history of nocturnal enuresis. Daytime incontinence was present in 41.3% of the nocturnal enuresis group. The percentages of sleep-related disturbances were significantly higher in the nocturnal enuresis group when compared to the normal control group.42.6% of the children with nocturnal enuresis experienced pharmacotherapy, and 0.4% experienced enuresis alarms. Conclusion : The results of this study suggest that children with nocturnal enuresis in Korea have a high genetic load and a possibility of developmental delay, which supports the neurodevelopmental point of view with regard to the etiology of nocturnal enuresis. The physicians in Korea prefer pharmacological interventions to alarm interventions in treating Korean children with nocturnal enuresis.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.17 no.1
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• pp.19-26
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• 2006

Objectives : The object of this study was to examine computer game playing patterns and psychopathologies related to computer game addiction in school-age children. Methods : The subjects were 533 elementary school students (4th to 6th grade) in Kangdonggu, Seoul. We evaluated computer playing patterns of all subjects using computer game playing pattern questionnaire, and determined the risk group of computer game addiction by internet game addiction scale score. We evaluated subscale score of K-CBCL from parents of all subjects, and conducted correlation analysis and logistic regression analysis between computer game addiction and subscale score of K-CBCL. Results : In 488 responders, 10.2% of started playing computer game in preschool age, and 67.2% started at low grade of elementary school. The mean frequency of computer game play per week was 3.66 days. Mean time spent playing computer games per day was 1.89 hours. 'Simply for fun' was the most common reason far playing computer games (40.8%). Male subjects showed statistically significant differences in age of starting computer game, frequency of computer game play per week, reasons for playing computer game and computer game addiction scale scores. There were significant correlations between computer game addiction scale scores and academic performance, somatic complaints, attention problems, and internalizing problems in K-CBCL. But In logistic regression analysis, only attention problems among K-CBCL subscales showed significant predictability to computer game addiction. Conclusion : Upper grade elementary school students experienced computer game playing at the very early age, and spend much time in playing computer games. There were significant correlation and predictability between computer game addiction and attention problems.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.10 no.1
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• pp.100-112
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• 1999

Objective：In life-long disabilities like autism and mental retardation, the authors thought that it is important for clinician to consider the quality of life of a primary caregiver for long-term management and prognosis. This study was to investigate the factors of children and family environment affecting the quality of life and depression in mothers with autistic and/or mentally retarded children. Methods：41 autistic and/or mentally retarded children aged 5-12 years with their mothers were surveyed from September, 1998 to January, 1999, with K-CBCL, K-BDI, K-FES, and K-SBQOL scale and compared with data from 35 normal control subjects. Results：1) Total K-BDI and K-SBQOL scores of mothers with mentally handicapped children were significantly poorer than the scores of normal control group. Independence, intellectual/cultural orientation and active recreation subscales of K-FES in mentally handicapped children were significantly decreased than those in normal control group. 2) Total K-BDI score of mothers with mentally handicapped children was correlated with their children’s behavioral problems, especially internalizing and thought symptoms, and with family cohesion, expressiveness, conflict and independence. 3) Totol K-SB quality of life score of mothers with mentally handicapped children was correlated with their children’s behavioral problems, especially attention problem, and with family cohesion, conflict, independence, intellectual/cultural orientation, and moral-religional emphasis. 4) The quality of life of mothers with mentally handicapped children was predicted by attention problem($R^2$=.36, p=.000) and social competence($R^2$=.07, p=.038) in children and family cohesion ($R^2$=.16, p=.001). 5) Depression of mothers with mentally handicapped children was predicted by internalizing symptom ($R^2$=.21, p=.003) and thought disorder($R^2$=.06, p=.048) in children and family cohesion($R^2$=.14, p=.008). Conclusion：Reducing behavioral problems and family therapeutic intervention in autistic and mentally retarded children can improve the quality of life of primary caregivers and long-term prognosis of the children, although those are not curative.

• Korean Journal of Psychosomatic Medicine
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• v.18 no.1
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• pp.19-29
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• 2010

Objectives：Authors hypothesized that bipolar tendency of non-psychiatric person would be associated with stress vulnerability. To test the hypothesis, we compared perceived stress level, Type A Behavioral Pattern (TABP) and unhealthy lifestyle between person with and without bipolar tendency. Methods：The study cohort consisted of 1987 subjects without past and current psychiatric history. In this study, bipolar tendency was determined by MDQ response which requires endorsement of at least 7 of the 13 "yes or no" questions. We compared the scores of Perceived Stress Scale, A/B lifestyle questionnaire, and unhealthy lifestyle(alcohol, smoking, lack of exercise, irregular meal) between MDQ positive and negative respondents. Results：We identified the bipolar tendency group determined by the MDQ positive response were 329 subjects(16.6%). The overall score of the bipolar tendency group was significantly high on the A/B lifestyle questionnaire compared to the non-bipolar tendency group(125.4 vs. 115.9, p<0.001), and the rate of the subjects defined as TABP was also significantly high(41.3% vs. 30.1%, p<0.001). In comparison of subjectively perceived stress level, the bipolar tendency group was observed to be significantly higher than the non-bipolar tendency group (18.5% vs. 16.5%, p<0.001). The bipolar tendency group was significantly higher than the non-bipolar tendency group on the rate of answering：'irregular eating habit' (20.1% vs. 14.3%, p=0.002), '4-or-more-times alcohol intake per week' (29.8% vs. 16.5%, p<0.001), 'currently smoking' (41.9% vs. 23.0%, p<0.001), '2-or-less-times physical exercises per week' (63.2% vs. 55.1%, p=0.007). Conclusion：By clinical diagnosis, even a person who does not meet the criteria of bipolar disorder has a high risk of stress-related behavioral pattern, and perceived stress when possessing bipolar tendencies such as the (hypo) maniac tendency or affective instability. Such individual has significantly higher risk of having unhealthy life-style such as smoking, drinking, irregular eating habit and lack of exercise compared to non-bipolar tendency group. Since these risk factors lead to increase the risk of obesity, metabolic syndrome, diabetes, and cardiovascular diseases, the individual with the bipolar tendency requires a more effort to manage stress and to maintain healthy lifestyle.