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Kang S.,Hoseo University | Kim J.-B.,Seoul Childrens Hospital | Heo T.-H.,Catholic University of Korea | Kim S.-J.,Hoseo University
Gene | Year: 2013

Batten disease is an inherited neurodegenerative disorder caused by a CLN3 gene mutation. Batten disease is characterized by blindness, seizures, cognitive decline, and early death. Although apoptotic cell death is one of the pathological hallmarks of Batten disease, little is known about the regulatory mechanism of apoptosis in this disease. Since the CLN3 gene is suggested to be involved in the cell cycle in a yeast model, we investigated the cell cycle profile and its regulatory factors in lymphoblast cells from Batten disease patients. We found G1/G0 cell cycle arrest in Batten disease cells, with overexpression of p21, sphingosine, glucosylceramide, and sulfatide as possible cell cycle regulators. •Batten disease cells exhibit reduced viability and induced apoptosis.•Batten disease cells show G1/G0 cell cycle arrest.•Batten disease cells show upregulated expression of p21 and some sphingolipids.•Cell cycle arrest in Batten cells is possibly attributable to p21 and sphingolipids. © 2013 Elsevier B.V.


Kim S.-J.,Hoseo University | Lee Y.-J.,Hoseo University | Kim J.-B.,Seoul Childrens Hospital
Gene | Year: 2013

Parkinson's disease is a degenerative disorder of the central nervous system and is regarded as one of the most common neurologic diseases. Myxobacterial metabolites have been shown to possess a wide range of beneficial physiological effects, including anti-fungal, antibiotic, and anti-tumor activities. We aimed to determine whether myxobacterial metabolites exhibit a potential therapeutic effect in cells from a Parkinson's disease mouse model. The screening process identified 4 compounds, which were found to increase cell growth rate by >1.3 times that observed on the vehicle. These compounds promoted regeneration of the cells from a Parkinson's mouse model following the appearance of acute lesions, and reduced the levels of proteins associated with endoplasmic reticulum stress and apoptotic cell death. These compounds could lead to the development of novel therapies for Parkinson's disease and provide insight into the mechanisms through which apoptotic cell death takes place in this disorder. © 2012 Elsevier B.V.


Kim J.-H.,Gachon University | Byun H.-J.,Seoul Childrens Hospital | Ann J.-H.,Gachon University | Lee J.,Gachon University
Australian and New Zealand Journal of Psychiatry | Year: 2010

Objective: Subjective experiences are subtle, self-experienced disturbances, a thorough description of which is provided within the framework of the concept of basic symptoms. Recent studies have shown that subjective experiences have important diagnostic implications for schizophrenia and related disorders. The purpose of the present study was to examine the relationship between subjective experiences and psychopathological dimensions in schizophrenia. Method: Sixty-seven outpatients with schizophrenia were evaluated. Subjective experiences were comprehensively assessed using the Frankfurt Complaint Questionnaire (FCQ). Symptoms of schizophrenia were evaluated using the Manchester Scale (MS). Pearson's partial correlation analysis was performed between the FCQ and the MS scores, controlling for the influence of extrapyramidal adverse effects. Results: The analysis revealed that the MS positive symptom score had significant positive correlations with the FCQ total score and subscales scores. The MS negative symptom score did not have significant correlations with the FCQ scores. Conclusions: The results of our study suggest that subjective experiences are significantly associated with positive symptomatology in schizophrenia, suggesting that they may share a common underlying neural basis. Future prospective studies are necessary to confirm the stability of these relationships and to explore the diagnostic and therapeutic implications of subjective experiences in a diverse group of patients at different stages of illness. © 2010 The Royal Australian and New Zealand College of Psychiatrists.


Song Y.-W.,Konyang University | Kim S.-J.,Hoseo University | Heo T.-H.,Catholic University of Korea | Kim M.-H.,Seoul National University | Kim J.-B.,Seoul Childrens Hospital
Muscle and Nerve | Year: 2012

Introduction: Recent molecular studies of the original cases of normokalemic periodic paralysis (normoKPP) have raised suspicions that these families actually had hyperkalemic periodic paralysis (hyperKPP) due to mutations in the skeletal muscle sodium channel gene SCN4A. However, there is still a debate about the existence of normoKPP. Methods: We screened 230 individuals with primary periodic paralysis for mutations in the SCN4A, CACNA1S, and KCNJ2 genes. All patients had either a hyperKPP or a hypoKPP phenotype, and none had a normoKPP phenotype. Results: In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP. Each patient exhibited the characteristic clinical and laboratory features (including hyperkalemia during spontaneous attacks) of hyperKPP. Conclusion: Our findings support the notion that normoKPP is not a distinct disease. © 2012 Wiley Periodicals, Inc.


Park H.J.,Seoul Childrens Hospital
Journal of the Korean Medical Association | Year: 2011

Medical professionalism in Korea is underdeveloped because of a strong state that has been in place for the past one hundred years. If the government actively controls policies and regulates the professional associations under state corporatism, deterioration of professionalism is inevitable. The current medical insurance in Korea is unified as a monopsony, but it is not the 'bipartite corporatism' between the government and the medical profession such as the National Health Services (NHS) in Britain. All insurance matters related to a physician's practice, including standards of treatment and the physician's reimbursement, are handled by the government. Therefore, the authority of medical expertise is subordinate to the authority of the government agency, and physicians are forced to follow the goals and policies that are set by the government. Physicians' professional ethics are the core of their occupational control. The declaration of "Codes of Ethics" by the Korean Medical Association, before it was revised in April 2006, defined a "sincere fulfillment in practicing medicine" as a full duty of the physician's life. If this declaration was intended to be interpreted literally, all physicians in Korea could be asked to pursue identical lives with the same goals as their professional life as a physician. If it was not intended to be interpreted literally, then physicians may develop their own ethical approaches according to their individual perspectives on life. The former case is an unethical form of state control while; the latter case would make legitimate occupational regulation impossible. The ideal of medical service is an institutional attribute of an occupation and not a duty of an individual's life. Therefore, it should be possible for physicians to work under an occupational control that requires specific standards for the members of the profession and embodies their professional values. © Korean Medical Association.

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