• Journal of Genetic Medicine
• /
• v.2 no.1
• /
• pp.17-22
• /
• 1998

The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management of the patients with the Lesch-Nyhan syndrome is frustrating and requires burdensome medical treatment since it cripples the patient and shortens the life span by progression of neurological symptoms, but there are no cures or measures for relieving relentless natural course of the disease yet. Therefore, prenatal diagnosis of the affected fetus is important in genetic counselling for the family at high risk. In this study, four different mutations in the HPRT gene of four probands have been identified in four unrelated families; K215X, Q109X, nt.631 ${\Delta}A$, and nt.289 ${\Delta}GT$. Two mutations among them altered restriction enzyme sites; SpeI for Q109X and MaeI for nt.289 ${\Delta}GT$. Based on their molecular defects, prenatal diagnoses of 3 the fetuses were successfully made between ninth and eleventh week of gestation by polymerase chain reaction (PCR), restriction digestion and DNA sequencing using cDNA obtained from chorionic villus samples (CVS). We predicted the outcome of all fetuses prenatally. Among the three fetuses two were male and one was female according to the identification made by PCR amplification of the sex determining region of the Y chromosome(SRY) gene. Each carried a wild type allele for the corresponding mutant allele. They were also tested postnatally for the mutations to be unaffected.

• Clinical and Experimental Pediatrics
• /
• v.46 no.5
• /
• pp.505-509
• /
• 2003

Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.

• BMB Reports
• /
• v.39 no.4
• /
• pp.441-447
• /
• 2006

Abuse of drugs can elicit compulsive drug seeking behaviors upon repeated administration, and ultimately leads to the phenomenon of addiction. We developed a procedure for the standardization of microarray gene expression data of rat brain in drug addiction and stored them in a single integrated database system, focusing on more effective data processing and interpretation. Another characteristic of the present database is that it has a systematic flexibility for statistical analysis and linking with other databases. Basically, we adopt an intelligent SQL querying system, as the foundation of our DB, in order to set up an interactive module which can automatically read the raw gene expression data in the standardized format. We maximize the usability of this DB, helping users study significant gene expression and identify biological function of the genes through integrated up-to-date gene information such as GO annotation and metabolic pathway. For collecting the latest information of selected gene from the database, we also set up the local BLAST search engine and non-redundant sequence database updated by NCBI server on a daily basis. We find that the present database is a useful query interface and data-mining tool, specifically for finding out the genes related to drug addiction. We apply this system to the identification and characterization of methamphetamine-induced genes' behavior in rat brain.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.12
• /
• pp.7359-7366
• /
• 2013

Objective: To assess the effects of perioperative comprehensive supportive care interventions on outcome of Chinese esophageal cancer patients in a prospective study. Methods: 60 patients with primary esophageal carcinoma were randomized into an intervention group (IG, n=31) and a control group (CG, n=29). The Chinese version of symptom checklist-90 (SCL-90) was adopted to assess their psychological status. The interventions, including health education, psychological support, stress management, coping strategies and behavior training, were carried out in 3 phases (preoperative, postoperative I and postoperative II), and psychological effects were thereafter evaluated accordingly before surgery, and 1 week, 4 weeks and 24 weeks post-surgery. Medical costs were estimated at discharge. Survival of patients was estimated each year post-surgery. General health status and satisfaction-with-hospital were surveyed by a follow-up questionnaire 4 years post-surgery. Results: All the subjects demonstrated higher scores in the preoperative phase than the normal range of Chinese population concerning 7 psychological domains including somatization, obsessive-compulsive, depression, anxiety, hostility, phobic anxiety and paranoid ideation. Although no significant difference was observed between the two groups at admission, the scores of IG, which tended to decrease at a faster rate, were generally lower than those of CG at weeks 1, 4 and 24 post-surgery. The length of hospital stay and medical costs of IG were significantly less than those of CG and satisfaction-with-hospital was better. However, there was no significant difference in 4-year survival or health status between two groups. Conclusions: Appropriate perioperative comprehensive supportive care interventions help to improve the psychological state of Chinese patients with esophageal carcinoma, to reduce health care costs and to promote satisfaction of patients and their families with hospital.

• Korean Journal of Acupuncture
• /
• v.26 no.4
• /
• pp.39-52
• /
• 2009

Objectives : Cue reactivity is a key factor that modulates motivational goal-directed behavior associated with compulsive drug-taking and relapse. We investigated whether acupuncture attenuated the skin conductance response and the heart rate response to smoking-related visual cues in smokers. Methods : Twenty-nine smokers were treated with real acupuncture (RA) or sham acupuncture (SA). The stress response inventory was measured on the 5th day after quitting smoking. The skin conductance response and the heart rate were measured to evaluate the autonomic changes to the smoking related visual cues on the same day. Results : The sympathetic alterations in skin conductance and the heart rate induced by the smoking-related visual cues were significantly lower in the RA group, as compared to the SA group. The stress response inventory, such as somatization and frustration, in the RA group was significantly lower than that of the SA group. Conclusions : Acupuncture ameliorated the stress symptoms as well as the sympathetic activation to smoking cues during withdrawal. These findings indicate that acupuncture might be a useful tool in smoking cessation by inhibiting smoking cues-induced autonomic responses.

• 대한상한금궤의학회지
• /
• v.12 no.1
• /
• pp.23-48
• /
• 2020

Objectives : This study aimed to suggest distinct signs of Greater yin disease (tàiyīnbìng, 太陰病) by researching the etymology of three terms: zi-tong (自痛), jie-ying (結硬), and yin-er (因爾), which are exclusive found only in Greater yin disease (太陰病) in Gangpyeong-shanghanlun, but not in other categories. Methods : We studied the etymologies of the three terms that are unique in Greater yin disease, then found some pathological signs that are related with them through the four mental illness cases, which include somatization, obsessive-compulsive behavior, delusion, and panic disorder. Results : Based on the definitions of each term, we diagnosed the four patients who had mental illnesses as having Greater yin disease, and we observed meaningful improvements after administering herbal medication. After Gyejigajakyak-tang administration, the Insomnia Severity Index (ISI) score decreased from 18 to 7 and the Beck's Anxiety Index (BAI) score decreased from 36 to 18 in the first case, the ISI score decreased from 27 to 16 and the BAI score decreased from 50 to 33 in the second case, and the ISI score decreased from 23 to 4 and the BAI score decreased from 34 to 5 in the third case. In the last case, the ISI and BAI scores were 16 and 22, respectively, at the first visit, and it was found that the scores had changed to 6 and 22, respectively, at the last visit. Conclusions : We found that the unique terms in Greater yin disease, including zi-tong (自痛), jie-ying (結硬), and yin-er (因爾), can be interpreted as groundless arbitrary assumption, resting strong tension, and psychological projection based on the etymological hypothesis. Therefore, we suggest these as specific signs of Greater yin disease.

• Journal of Korean Society of Forest Science
• /
• v.100 no.3
• /
• pp.344-351
• /
• 2011

The aim of this study is to clarify the psychological effects of walking in the urban forest and to examine how the effects differ in accordance with individual personality. The study subjects comprised 18 male Japanese university students ($21.0{\pm}0.8$ years old). These subjects were instructed to walk predetermined 20-min courses in the urban forest and the city (control). Three questionnaires (POMS, STAI-S, and SCL-90) were administered to assess the subjects' psychological responses. The KG's Daily Life Questionnaire was used to examine the subject's personalities for presence of the Type A behavior pattern. The study found that walking in the urban forest improved the participants' positive mood and decreased their negative mood, anxiety, and other negative mental symptoms. Moreover, Type B subjects showed a bigger change than Type A subjects on the SCL-90's obsessive and compulsive scale. Our results supported the premise that walking in the urban forest has relaxing effects, and that these effects can differ in accordance with the subject's personality characteristics.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.23 no.1
• /
• pp.23-30
• /
• 2012

Objectives : This study was conducted to investigate the prevalence of victims of bullying and the demographic characteristics of victims, and their related psychopathology, in a Korean nationwide sample of youths in middle and high school over a one month period. Methods : During the autumn of 2009, students in the 7th to 12th grades at 23 secondary schools participated in a nationwide, cross-sectional study. The study subjects completed the Adolescent Mental Health and Problem Behavior Screening Questionnaire-II (AMPQ-II) and Symptom Checklist-90-Revision (SCL-90-R). Based on the data acquired, descriptive statistics, correlation coefficients and multiple logistic regression analysis were performed. Results : Among the 3364 participants, 2272 (67.54%) completed the questionnaire. The prevalence of victimization was 28.9%. Male gender was positively associated with victimization, and grade level was negatively related to victimization. The AMPQ-II bullying score (Factor 4) was significantly (p<.001) and positively correlated to the AMPQ-II student total score (r= 0.50), Worry and thought (Factor 1 ; r=0.38), Mood and suicide (Factor 2 ; r=0.31), Academic and Internet-related problems (Factor 3 ; r=0.24), Rule violations (Factor 5 ; r=0.23), and AMPQ-II teacher total score (r=0.11). Somatization (r=0.23), Obsessive-compulsive behavior (r=0.24), Interpersonal sensitivity (r=0.30), Depression (r=0.33), Anxiety (r=0.26), Hostility (r=0.30), Phobic anxiety (r=0.22), Paranoid ideation (r=0.36), and Psychoticism (r=0.31) results from the SCL-90-R were also found to be positively related to the AMPQ-II bullying score, and remained significant after adjusting for age and gender. A total of 26% of the victims reported suicidal ideations as compared to 9% of non-victims over the month prior to the evaluation ($x^2$=119.595, df=1, p<.001). The multiple logistic regression analysis indicated that the AMPQ-II bullying score significantly increased the risk of suicidal ideation [Exp(b)=1.55, df=1, p<.001] after adjusting for age and gender. Conclusion : School bullying was highly prevalent among Korean middle and high school students. This study provided strong evidence that suicidal ideation and psychopathology were serious problems among the victims of bullying.