Journal of The Korean Society of Inherited Metabolic disease
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v.20
no.2
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pp.50-54
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2020
Vici syndrome is a rare, autosomal recessive multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, immunodeficiency, and delayed development. We report the case of a 3-year-old boy diagnosed with Vici syndrome. He initially presented with hypotonia and sucking problem. Whole-exome sequencing identified novel compound heterozygous mutations, namely c.2254C>T (p.Gln752Ter) and c.5511-5518+2 del TATGCAAAGT in the EPG5 gene. The diagnostic challenges can be attributed to the diverse clinical manifestations. Thus, whole-exome sequencing is a useful diagnostic tool for the genetically and clinically heterogeneous Vici syndrome. This is the first Korean report of a patient with Vici syndrome.
Marital status has drawn much attention as previous studies have been pointed it out as a key factor of health. Nonetheless, systematic studies on elderly marital status and health have been quite limited, for most researches have neglected the varying effects of marital status on health over the lifespan and mainly focused on midlife. This study, using nationwide survey on elderly population, attempts to discover the health differentials between widowed and married elderly and explain the differences though the structure and function of their social network. The results reveal that the magnitudes of marital status effects were differed by dimensions of health. The widowed were more likely to be unhappy than married, even after controlling the socio-demographic characteristics. In physical health, however, the health differences between widowed and married were less noticeable or disappeared, as sex, age and other structure factors were considered. Furthermore, the strength of social network factors affecting the physical and mental health of elderly turned out to be different between married and widowed: widowed were more likely than married to be affected by the contact with children and less likely to be affected by contact with friends/relatives. Such results had both positive and negative impact on physical and mental health of widowed. This may imply the difference in pathways of regulating health among the married and widowed elderly.
Background: Disabled people have particularly restricted access to health care. In response to this, the pilot project for the general physician (GP) system for disabled people was implemented in 2018, based on the rights of people with disability to the Health Act in South Korea. However, its participants were 0.2% among the total of those with severe disabilities in 2021. Therefore, this study examined the factors related to registering with a GP and the access level to its services to suggest implications for activating the participation of disabled people. Methods: We analyzed factors affecting the registration with a GP and the number of using the services among the participants of the GP system during May 2018 and December 2021 by conducting hierarchical logistic regression and hierarchical regression. The data were linked with the national health insurance data to examine various predictors, including disability types, socioeconomic status, health status, and GP registration. Results: As a result of analyzing the factors affecting whether or not to register for the pilot project, those with disabilities (physical disabilities, brain lesions, visual, intellectual, mental, and autistic disability) eligible for disability care (odds ratio [OR], 4.157) than other disability, and those living in metropolitan (OR, 4.330) or cities (OR, 3.332) than rural residences were highly likely to enroll the pilot study. Health-related variables also predicted the registration status of the pilot project. The predictors related to GP enrollment types (membership type: general health or disability care, GP's affiliation: clinics or hospitals) significantly influenced levels of access to services. Conclusion: It is necessary to develop the GP project for disabled people by considering the variation in types of disability, residences, and health. Further study will be needed to investigate the impact of GPs on the level of participation among disabled people.
Kim, Seo Young;Jun, Yong Ho;Kwon, Young Joon;Jeong, Hee Yeon;Hwang, Bo Young;Shim, Se Hoon
Korean Journal of Biological Psychiatry
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v.14
no.3
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pp.184-193
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2007
Objectives:There is increasing evidence that the cerebellum plays an important role in cognition and psychiatric symptoms as well as motor coordination. The concept of cognitive dysmetria has been making cerebellar function in schizophrenia the focus of current studies. In other words, disruption in the corticocerebellum-thalamic -cortical circuit could lead to disordered cognition and clinical symptoms of schizophrenia. The purposes of this study were to determine cerebellar dysfunction in male schizophrenic patients semiquantitatively with ICARS and to investigate the clinical and cognitive correlates of ICARS in patients. Methods:We compared the scores of cerebellar neurologic sign using ICARS in 47 male patients with a DSM-IV-TR diagnosis of schizophrenia with 30 gender and age-matched healthy control subjects. The semiquantitative 100-point ICARS consists of 19 items divided into 4 unequally weighted subscores:posture and gait disturbances, kinetic functions, speech disorders and oculomotor disorders. All subjects were also assessed with cognitive function test. Cognitive functions were evaluated by Korean-Mini Mental Status Examination (K-MMSE), Verbal fluency test, and Clock drawing test. The patients were administered Korea version of Positive and Negative Symptom Scale(K-PANSS) to assess the symptom severity. Results:Schizophrenic patients had significantly higher scores on the ICARS than control subjects with posture and gait disturbances, kinetic functions, and oculomotor disorders. They also showed more significant impairments in cognitive function tests than control subjects. There was a significant correlation between ICARS and negative symptoms of patients. In cognitive function test, Clock drawing test was significantly associated with negative symptoms. In addition, Clock drawing test was negatively correlated with the total score of ICARS. Conclusion:In this study, we confirmed that schizophrenic patients have significant impairments in cognitive and cerebellar function, and that those were related with negative symptoms of schizophrenic patients. These results support a role of the cerebellum in schizophrenia. It is meaningful that we used a structured, and reliable procedure for rating neurological soft signs, ICARS. We hope that future prospective studies using a similar design help that rate of neurological sign should have been visible with the progression of illness.
Kim, Jihyun;Lee, Joongsuk;Nam, Beomwoo;Choi, Jin-Yong;Yang, Sang-Kuk;Yim, Hyeon Woo;Jo, Sun-jin;Jeong, Hyunsuk
Korean Journal of Psychosomatic Medicine
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v.25
no.2
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pp.129-135
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2017
Objectives : Little is known about the influence of urinary incontinence and depression on individual's QOL(Quality of life). We aimed to clarify how the interaction between urinary incontinence and depression influences one's QOL. Methods : A total of 1262 patients were enrolled in this study from April, 2011 to July, 2011. We estimated the severity of depressive symptoms and QOL, using SGDS-K, EQ-5D. We also investigated the morbidity of urinary incontinence for each patient in person or by questionnaire. Comparisons of QOL between groups with or without depression, with or without urinary incontinence were established using t-test, ANOVA and Scheffe's post hoc analysis. The interaction between urinary incontinence and depression was analyzed by each domain of QOL, using multiple regression analysis. Results : Patients with depression and urinary incontinence showed significantly higher EQ-5D scores on every domain of QOL than other patients, which means significantly lower QOL. Patients with depression, no urinary incontinence reported lower QOL, especially in the domain of 'usual activity', 'anxiety' and 'visual analogue scale(VAS)', whereas those with urinary incontinence, no depression showed lower QOL in 'motility', 'usual activities' and 'pain' domain. Statistically significant interaction effects of two diseases were observed in the domain of 'VAS', 'self care' and 'anxiety'. Conclusions : Comorbidity of urinary incontinence and depression showed significantly lower QOL of patients, compared with urinary incontinence or depression respectively, which implies additive interaction effects of the two diseases. Optimal diagnosis and treatment of depression should be emphasized for patients with urinary incontinence.
A study aims to assess Korean mental health literacy and analyze the characteristics of vulnerable population. This study presented typical vignettes of schizophrenia, depression and alcoholism to 1,197 adults randomly. All respondents were asked for recognition of mental illness, beliefs about causes, professional help and self-help, stigma for receiving psychiatric treatment for the person described. The results showed that the recognition of mental health problem in a vignette was very poor and that personal causes were seen by public as more important than environmental and bio-genetic causes. When the public were asked about various professional therapies and self-help activities, psychotherapy was favored while other professional help were considered to be less helpful than self-help activities. Among professionals, psychiatrist were viewed as most helpful. We used cluster analysis to compare high mental health literacy group with low mental health literacy group(vulnerable population). Vulnerable population were found to be more aged and to live in county area. We proposed government initiated program for enhancing public mental health literacy.
Journal of the Korean Academy of Child and Adolescent Psychiatry
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v.14
no.2
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pp.139-149
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2003
Objectives:To review the history of the development and current status of Korean Child and Adolescent Psychiatry and to propose the future tasks at this 20th anniversary of Korean Academy of Child and Adolescent Psychiatry. Methods:Records and publications of Korean Academy, personal communications with senior members of the Academy, the author's recollections and memoirs. Results:Korean Child Psychiatry started with opening Child Psychiatry Clinic at Seoul National University Hospital in 1979 and establishing Division of Child and Adolescent Psychiatry at the same hospital in 1980. A Child Psychiatry Study Group was formed in 1983 and it transformed into Korean Academy of Child and Adolescent Psychiatry in 1986. In the past 20 years, Korean child and adolescent psychiatry made an impressive progress and contributed significantly to the development of Korean medicine as well as to the establishment of child mental health service. There are 77 board-certified and 48 board-eligible child psychiatrists, and 18 child psychiatry fellows are in training as of 2003. Main forces of this successful introduction of child psychiatry are 1) 7 child psychiatry training centers at major university hospitals, 2) publication of Korean Journal of Child and Adolescent Psychiatry in 1990, 3) the establishment child psychiatry board certification system in 1996. Korean child psychiatry has extended its role in the international child psychiatry and took leadership in establishing Asian Society of Child and Adolescent Psychiatry and Allied Professions(ASCAPAP). Conclusion:Korean child psychiatry has achieved a remarkable progress for the past 20 years and is currently producing 15 or more child psychiatry each year. However, there are needs of more active involvements in adolescent problems, more active consultation-liaison services at general hospitals as well as community mental health institutions. More school consultation and preventive educational services are desired. There is a urgent need of carrying out more empirical studies with strong scientific rigor. Korean Academy should pay attention and provide assistance to the development of child psychiatry service in other countries in Asia.
Ahn, Jun Seok;Kim, Eun young;Cho, Maeng Je;Hong, Jin Pyo;Hahm, Bong-Jin;Chung, In-Won;Ahn, Joon-Ho;Jeon, Hong Jin;Seong, Su Jeong;Lee, Dong-Woo
Korean Journal of Psychosomatic Medicine
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v.24
no.2
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pp.174-183
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2016
Objectives : The aim of this study is to evaluate difference of somatic symptoms of anxiety disorder and major depressive disorder and domainal association with suicidal idealization, plan, and attempts. Methods : A total of 359 adults diagnosed with major depressive disorder and anxiety disorder of last one year participated. Participants interviewed with certain sections of Korean version of Composite International Diagnostic interview of CIDI. Sections of interests includes questionnaires regarding somatic symptoms and suicidal idea, plan and attempts of last one year. Results : Chest pain shows more prevalence in major depressive disorder. Symptoms of Headache and loose stool are more prevalent in anxiety disorder. Difficulty in equilibrium and fainting spells are more common somatic complaints of co-diagnosis states of anxiety disorder and major depressive disorder. Comparing 3 domains of pain symptoms, gastrointestinal symptoms and pseudo-neurological symptoms, pain symptom domains, gastrointestinal symptoms domain shows significant statistic difference between diagnosis. Average somatic symptom numbers of each symptom domains increase through suicidal idealization, plan and attempt, accordingly. Conclusions : Our finding shows some of somatic symptoms are more prevalent at certain diagnosis. Since increasing numbers of somatic complaints of each symptom domains goes with the suicidal idealization to suicidal attempts, proper psychiatric evaluation and consultations are crucial for patients with numerous somatic complaints in non-psychiatric clinical settings.
During sleep, relatively major respiratory physiological changes occur in healthy subjects. The contributions and interactions of voluntary and metabolic breathing control systems during waking and sleep are quite different Alterations of ventilatory control occur in chemosensitivity, response to mechanical loads, and stability of ventilation. The activities of intercostal muscles and muscles involved in regulating upper airway size are decreased during sleep. These respiratory physiological changes during sleep compromise the nocturnal ventilatory function, and sleep is an important physiological cause of the nocturnal alveolar hypoventilation. There are several causes of chronic alveolar hypoventilation including cardiopulmonary, neuromuscular diseases. Obstructive sleep apnea syndrome (OSAS) is an important cause of nocturnal hypoventilation and hypoxia. Coexistent cardiopulmonary or neuromuscular disease in patients with OSAS contributes to the development of diurnal alveolar hypoventilation, diurnal hypoxia and hypercapnia. The existing data indicates that nocturnal recurrent hypoxia and fragmentation of sleep in patients with OSAS contributes to the development of systemic hypertension and cardiac bradytachyarrhythmia, and diurnal pulmonary hypertension and cor pulmonale in patients with OSAS is usually present in patients with coexisting cardiac or pulmonary disease. Recent studies reported that untreated patients with OSAS had high long-term mortality rates, cardiovascular complications of OSAS had a major effect on mortality, and effective management of OSAS significantly decreased mortality.
Kim, Hye-Kyeong;Yoo, Seung-Hyun;Cho, Seon;Kwon, Eun-Joo;Kim, Su-Young;Park, Ji-Youn
Korean Journal of Health Education and Promotion
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v.27
no.5
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pp.79-89
/
2010
Objectives: This study aims to identify health status and health risks among female marriage immigrants to Korea and to provide a basis for public health strategies to address their health issues. Methods: The participants of the study were 3,069 immigrant wives. The health examination was conducted by the Korea Association of Health Promotion (KAHP) in 2008. The participants also completed self-administered questionnaires on demographic characteristics, health-related behaviors and mental health. Results: Patterns of immigrant women's health problems differed by age and country of origin. Behavior patterns also differed by their heritage, age, and years of residence in Korea. Generally Vietnamese women fell in lower ranges of disease prevalence and health risk factors in the participant group and Japanese women presented most healthy eating habits. Filipina women showed relatively high disease prevalence than any other group. Conclusion: Immigration to Korea by marriage is relatively a new phenomenon, thus continuing surveillance and research are needed to identify health risks, behavior patterns, and their relationships. Interventions and policies for the health of migrant wives, their children and families are required.
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