• Title/Summary/Keyword: 만성정신장애

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A Case of Kabuki Syndrome Confirmed by Genetic Analysis: A Novel Frameshift Mutation in the KMT2D Gene (분자유전학적으로 진단된 가부키 증후군 1례)

  • Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
    • 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.

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A Study for the Certified Security Certification in Private Security Industry in Korea (민간경비 자격제도에 관한 연구)

  • Ahn, Hwang-Kwon
    • Korean Security Journal
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    • no.11
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    • pp.159-181
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    • 2006
  • This study is concerned on Why The Certified Security certification is needed and How to control the security quality to get better service to the clients. Theses days are required The Certified Certificate in all the industry. And in this point of view, the certified certificate is a kind of confirmation by an authority to the person who has how much special knowledge and practice in a certain field. Moreover, in the functionalism society the certified certificate system would be very positive effect to the related industry and society as official measurement by an authority. The security is freedom from fear and anxiety. Which means the security can not be operated in isolation from citizen's safe-living expectation, and which is also dealing with valuable human being's life. For getting the better purpose the security industry employees should have more organized special training and education. As my understanding the certified certificate exam system is the confirmation by an authority, the certified certificate is only neutral evidence to get the confidence and credit from the clients. In this point of view the core point is How to control The Certified Certificate by a credied authority.

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Evaluation of Taste in the Patients with Recurrent Aphthous Ulceration by Electrogustometer (전기미각측정기를 이용한 재발성 아프타성 궤양 환자의 미각평가)

  • Jun, Jin-Yong;Ahn, Yong-Woo;Ko, Myung-Yun
    • Journal of Oral Medicine and Pain
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    • v.32 no.1
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    • pp.1-8
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    • 2007
  • The purpose of this study was to investigate whether there were any changes in taste sensitivity with recurrent aphthous ulceration. Nintyseven subjects(25 males and 72 females) were included for the study and they were categorized into 2 groups(recurrent aphthous ulceration 27 persons, control 70 persons), recurrent aphthous ulceration group was investigated in the department of Oral Medicine, College of Dentistry, Pusan National University from April, 2005 to August, 2006 and control group was investigated in the clinic at Incheon city from June, 2006 to August, 2006. The electrical taste thresholds were measured using an electrogustometer of the 4 different sites(tongue tip, tongue lateral, circumvallate papilla and soft palate) in oral cavity. The results were as follows ; 1. The electrical taste threshold showed significant lower in the RAU group. 2. The electrical taste threshold showed significant lower in female group, and showed significant lower except soft palate in male group of the RAU group. 3. The electrical taste threshold showed a tendency to increase in all site of the multiple RAU group, but there were no significant differences. 4. The electrical taste threshold showed a tendency to increase in tongue lateral of the acute RAU group, and showed a tendency to increase in tongue tip, circumvallate papilla, soft palate of the chronic RAU group. 5. After treatment, electrical taste threshold was significant increase than initial visit in the RAU group. 6. After treatment, NAS showed a tendency to decrease in the RAU group.

The Relationship of between Anxiety Tendency and Recurrent Abdominal Pain in Elementary School Children (학동기 소아에서 반복성 재발성 복통과 불안 성향과의 관련성)

  • Moon, Ji-Young;Moon, Kyung-Rye
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.10 no.2
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    • pp.129-137
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    • 2007
  • Purpose: It has been reported that children with chronic pain have higher levels of anxiety than age-matched controls. Therefore, this study was designed to determine the relationship between anxiety and recurrent abdominal pain in elementary school children. Methods: In 2005, we surveyed 1,254 elementary school children (592 boys and 662 girls) whose ages ranged from 7 to 12 years. The degree of trait and state anxiety was compared between agroup suffering from intermittent abdominal pain, a group suffering from recurrent abdominal pain and a normal control group following the Korean version of Spielberger's State-Trait Anxiety Inventory YZ form (STAI-YZ). Results: 709 (56.5%) and 69 (5.5%) of the patients reported intermittent abdominal pain and and recurrent abdominal pain, respectively, during the 12 month period before this study was conducted, and trait and state anxiety values for each of these groups was 116 (9.3%) and 63 (5.0%), respectively. In addition, the State-Trait Anxiety score was significantly higher in the group with intermittent abdominal pain and RAP than the anxiety score of the normal control group. Additionally, the STAI-YZ score increased in proportion to the severity of abdominal pain, but was not correlated with the duration, frequency, onset time or location of abdominal pain. Furthermore, the proportion of the group with abdominal pain in the group that had trait or state anxiety was significantly higher than the proportion of the group that did not have trait and state anxiety. Conclusion: Recurrent abdominal pain during childhood is correlated with state and trait anxiety, therefore, psychological factors, such as anxiety duringtreatment, must also be considered when determining the cause of recurrent abdominal pain.

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The Effect of Social Capital on Health-related Quality of Life - Using the Data of the 2019 Community Health Survey - (노인의 사회적 자본이 건강 관련 삶의 질에 미치는 영향 - 2019년 지역사회건강조사를 중심으로 -)

  • Kim, Ji-Hee;Park, Jong
    • Journal of agricultural medicine and community health
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    • v.46 no.4
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    • pp.280-294
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    • 2021
  • Objectives: The purpose of this study is to investigate the effects of social capital characteristics, socio-demographic characteristics, physical condition, and health behavior characteristics on health-related quality of life of the elderly in Korea. Methods: T-test, one-way ANOVA, and regression analysis were performed by applying a complex sample design to 57.787 people aged 65 and over using the 2019 Community Health Survey. Results: First, as a result of complex-sample T-test and ANOVA analysis, it was found that there were differences in health-related quality of life according to social capital characteristics, physical condition & health behavior characteristics, and socio-demographic characteristics. Complex Sample Regression Analysis Results, the explanatory power of the model was 28%. When living in the metropolitan area, living in an apartment building, having a spouse, having a higher household income, economic activity, higher educational attainment, increase sleeping time, walking time, frequent binge drinking, health checkup, networking, trust, and social participation showed higher health-related quality of life. When people were older, their gender was female, higher BMI, number of chronic diseases, and severe stress that showed lower health-related quality of life. Conclusions: It was proved that the factors affecting the health-related quality of life of the elderly are not only physical condition and health behavior factors, but also social capital and socio-demographic characteristics. It was found that the role as a member was important.

The effect of health related characteristics on the use of information and communication technology of older adults (노인의 정보화 수준에 영향을 미치는 건강특성 연구)

  • Koo, Bon Mi;Joo, Ik Hyun
    • 한국노년학
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    • v.40 no.4
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    • pp.729-746
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    • 2020
  • For the development and better use of information and communication technology(ICT) for promoting health and quality of life in older people, it is important to understand personal factors associated with ICT use. The aims of this study were to describe the pattern of ICT use according to health characteristics of elderly and to investigate significant factors related to ICT use among three age groups. The data of 2017 National Survey of Older Koreans was used for analysis and 10,058 of older adults aged 65 and over were included for study participants. As results, first, the young old(65~74) used more functions of ICT than the middle-old(75~84) and the old-old(85 and over). Second, ICT was more used among older people with good conditions in chronic disease, subjective health, cognition, depression, vision, hearing, walking and IADL. Third, higher prevalence of ICT use was significantly associated with age, education, household income, subjective health, depression, cognitive function, vision limitation and walking limitation. Fourth, factors influencing the use of ICT were a little different among three age groups. For the young-old(65~74), subjective health, depression, cognitive decline, walking limitation, and IADL disability were significant factors affecting on ICT use. For the middle-old(75-84), subjective health, depression, cognitive decline, vision, hearing, and walking limitation were related with their ICT use. For the old-old(85 and over), only cognitive function and depression were associated with their ICT use. Based on these results, this study suggested the need to consider multiple health conditions for developing and using ICT for older adults.

The Evaluation of Bone Scan and SPECT Before and After Treatment of TMD Patients (골관절염을 가진 측두하악장애 환자의 치료 전, 후 골스캔과 SPECT의 평가)

  • Kim, Byeong-Soo;Ahn, Yong-Woo;Ko, Myung-Yun;Park, June-Sang
    • Journal of Oral Medicine and Pain
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    • v.30 no.1
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    • pp.57-67
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    • 2005
  • The aim of this study was to evaluate bone scan(SUR) and SPECT(hot spot) in patients with TMJ osteoarthritis. 99mTc-MDP bone scan and SPECT were done in 27 patients, total 54 temporomandibular joints were examined with clinical examination, plain radiography. 42 TMJs were osteoarthritis and 12 TMJs were normal case, clinically diagnosed. We compared osteoarthritis group and control group of bone scan(SUR) and SPECT(hot spot). thus we compared before and after treatment of bone scan(SUR) and bone SPECT(hot spot) according to history, contributing factor, symptom degree, treatment, treatment period. The obtained results were as follows. 1. Bone scan(SUR) and SPECT(hot spot) activity of osteoarthritis group were higher than control group(P<0.05, P<0.01). 2. Bone scan(SUR) and SPECT(hot spot) activity were decreased after treatment at TMJ with osteoarthritis(P<0.01). 3. Bone scan(SUR) and SPECT(hot spot) activity were decreased at treatment group with splint(P<0.01, P<0.05). 4. Bone scan(SUR) and SPECT(hot spot) activity were decreased at Chronic group(P<0.01, P<0.05). 5. Bone scan(SUR) and SPECT(hot spot) activity were decreased at low noise NAS(<6) group(P<0.01,P<0.05). 6. Bone scan(SUR) and SPECT(hot spot) activity were decreased at TMD patient with parafunctional habit and without trauma history, psychosocial factor. 7. Bone scan(SUR) and SPECT(hot spot) activity were higher at before treatment required more treatment period.

A Study on Relationship between Degree of Stress and Dyspepsia, Sleeping, Satisfaction of Adult Women in Rural Area (성인 여성들의 스트레스와 소화불량 및 수면장애와의 관련성)

  • Kim, Yeong-Hee;Cho, Soo-Yeul;Kang, Pock-Soo;Lee, Kyeong-Soo;Kim, Seok-Beom;Kim, Sang-Kyu;Kang, Young-Ah;Hwang, Young-Lork
    • Journal of agricultural medicine and community health
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    • v.25 no.1
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    • pp.51-63
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    • 2000
  • Ten Dongs were selected according to the systematic cluster sampling in Koryong Gun, and the survey was conducted on 571 women in the age between 30-69 years. The first survey was performed for 6 days between August 27 to September 1, 1999 with the investigation rate of 60.3%, and the second survey was performed in November with the investigation rate of 91.8%. The contents of survey included demographic characteristics, health behaviors, dyspepsia symptom score, sleeping induction time and the degree of sleep satisfaction, and degree of stress in the subjects. The dyspepsia symptom score was in the average 13.4 points out of a total 44 points and was the highest in the 50-59 year-old age group with 13.9 points. The sleep induction time was in the average of 35 minutes and was the highest in the 50-59 year-old age group with 40.9 minutes; the degree of sleep satisfaction was in the average of 7.9 points and was the lowest in the 50-59 year-old age group with 7.5 points. The stress score was in the average of 18.3 points and was highest in those subjects in their 40's and 50's with 18.7 points. When the correlation among the stress score, the degree of sleep satisfaction and dyspepsia symptom score was analyzed, the results showed that he stress score and the degree of sleep satisfaction showed a significant negative correlation and that the stress score and dyspepsia symptom score showed a significant positive correlation. Also, a significant negative correlation was found between the degree of sleep satisfaction and dyspepsia symptom score. According to each age group, a significant correlation was revealed among the stress score, dyspepsia symptom score and the degree of sleep satisfaction in those subjects over 40 years of age compared to those subjects who were younger than 40 years of age. As for educational level, the correlation among the stress score, the degree of sleep satisfaction and dyspepsia symptom score was higher in those subjects with less than middle school education compared to those subjects with more than high school education. When those factors that effects on the dyspepsia symptom score were analyzed with multiple regression, the results showed that the level of stress and chronic diseases were selected as significant variables. When those factors that affected on the degree of sleep satisfaction were analyzed, the sleep induction time and presence of chronic diseases and stress were selected as significant variables. Those women in their 50's who live in rural areas showed the highest level of stress, lowest the degree of sleep satisfaction, and highest level of dyspepsia, indicating that they need stress management. Also, since stress was showed to be a significant variable effecting on dyspepsia or the degree of sleep satisfaction, it is concluded that health promotion is possible through stress management. More studies are needed in the future on coping resources that would strengthen coping against stress, and by conducting studies on stress and related factors on community people, the measures of mental health promotion need to be developed.

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A Case of Rapidly Developed Obesity Hypoventilation Syndrome in a Patient with Kyphoscoliosis (척추후측만증 환자에서 급속히 진행된 비만성 저환기 증후군 1례)

  • Kim, Min Young;Jeong, Jee Sun;Jang, Yu Na;Go, Se-eun;Lee, Sang Haak;Moon, Hwa Sik;Kang, Hyeon Hui
    • Sleep Medicine and Psychophysiology
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    • v.22 no.1
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    • pp.30-34
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    • 2015
  • Obesity hypoventilation syndrome (OHS) is characterized by severe obesity, excessive daytime sleepiness, hypoxemia and hypercapnea. Because OHS mimics pulmonary hypertension or cor pulmonale, clinicians should recognize and treat this syndrome appropriately. A 58-year-old female visited the emergency room because of dyspnea. She was obese and had kyphoscoliosis. The patient also experienced snoring, recurrent choking during sleep and daytime hypersomnolence which worsened after gaining weight in the recent year. The arterial blood gas analysis showed she experienced hypoxemia and hypercapnea not only during nighttime but also daytime. We suspected OHS and the patient underwent polysomnography to confirm whether obstructive sleep apnea was present. During the polysomnography test, sleep obstructive apnea was observed and apnea-hypopnea index was 9.2/hr. The patient was treated with bilevel positive airway pressure therapy (BiPAP). After BiPAP for 4 days, hypoxemia and hypercapnia were resolved and she is currently well without BiPAP. We report a case successfully treated with clinical improvement by presuming OHS early in a patient who had typical OHS symptoms, even while having other conditions which could cause hypoventilation.

Alterations of Cerebral Blood Flow and Cerebrovascular Reserve in Patients with Chronic Traumatic Brain Injury Accompanying Deteriorated Intelligence (지능 저하를 동반한 두부외상 환자에서 뇌혈류 및 혈류예비능의 변화)

  • Song, Ho-Chun;Bom, Hee-Seung
    • The Korean Journal of Nuclear Medicine
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    • v.34 no.3
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    • pp.183-198
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    • 2000
  • Purpose: The purpose of this study was to evaluate alterations of regional cerebral blood flow (CBF) and cerebrovascular reserve (CVR), and correlation between these alternations and cognitive dysfunction in patients with chronic traumatic brain injury (TBI) and normal brain MRI findings. Materials and Methods: Thirty TBI patients and 19 healthy volunteers underwent rest/acetazolamide brain SPECT using Tc-99m HMPAO. Korean-Wechsler Adult Intelligence scale test was also performed in the patient group. Statistical analysis was performed with statistical parametric mapping software (SPM'97) Results: CBF was diminished in the left hemisphere including Wernicke's area in all patients with lower verbal scale scores. In addition, a reduction in CBF in the right frontal, temporal and parietal cortices was related with depressed scores in information, digital span, arithmetic and similarities. In patients with lower performance scale scores, CBF was mainly diminished in the right hemisphere including superior temporal and supramarginal gyri, premotor, primary somatomotor and a part of prefrontal cortices, left frontal lobe and supramarginal gyrus. CVR was diminished in sixty-four Brodmann's areas compared to control. A reduction in CVR was demonstrated bilaterally in the frontal and temporal lobes in patients with lower scores in both verbal and performance tests, and in addition, both inferior parietal and occipital lobes in information subset. Conclusion: Alterations of CBF and CVR were demonstrated in the symptomatic TBI patients with normal MRI finding. These alterations were correlated with the change of intelligence, of which the complex functions are subserved by multiple interconnected cortical structures.

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