• The Korean Journal of Physiology and Pharmacology
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• v.9 no.5
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• pp.291-298
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• 2005

To characterize cytosolic $Ca^{2+}$ fluctuations under metabolic inhibition, rat ventricular myocytes were exposed to $200{\mu}M$ 2,4-dinitrophenol (DNP), and mitochondrial $Ca^{2+}$, mitochondrial membrane potential (${\Delta}{\Psi}m$), and cytosolic $Ca^{2+}$ were measured, using Rhod-2 AM, TMRE, and Fluo-4 AM fluorescent dyes, respectively, by Laser Scanning Confocal Microscopy (LSCM). Furthermore, the role of sarcolemmal $Na^+$/$Ca^{2+}$ exchange (NCX) in cytosolic $Ca^{2+}$ efflux was studied in KB-R7943 and $Na^+$-free normal Tyrode's solution (143 mM LiCl ). When DNP was applied to cells loaded with Fluo-4 AM, Fluo-4 AM fluorescence intensity initially increased by $70{\pm}10$% within $70{\pm}10$ s, and later by $400{\pm}200$% at $850{\pm}45$ s. Fluorescence intensity of both Rhod-2 AM and TMRE were initially decreased by DNP, coincident with the initial increase of Fluo-4 AM fluorescence intensity. When sarcoplasmic reticulum (SR) $Ca^{2+}$ was depleted by $1{\mu}M thapsigargin plus $10{\mu}M ryanodine, the initial increase of Fluo-4 AM fluorescence intensity was unaffected, however, the subsequent progressive increase was abolished. KB-R7943 delayed both the first and the second phases of cytosolic $Ca^{2+}$ overload, while $Na^+$-free solution accelerated the second. The above results suggest that: 1) the initial rise in cytosolic $Ca^{2+}$ under DNP results from mitochondrial depolarization; 2) the secondary increase is caused by progressive $Ca^{2+}$ release from SR; 3) NCX plays an important role in transient cytosolic $Ca^{2+}$ shifts under metabolic inhibition with DNP.

• Korean Journal of Psychosomatic Medicine
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• v.9 no.1
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• pp.93-102
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• 2001

The relaxation response is a state of profound rest, creates physiological responses directly opposite to the stress response. The relaxation response can be used to counteract the harmful effects of stress. The relaxation response can be elicited by a number of techniques such as diaphragmatic breathing, meditation, progressive muscle relaxation, autogenic training, biofeedback, etc. These relaxation methods in any mental or physical conditions associated with distress and even in normal people have useful benefits for stress control and health enhancement. These relaxation techniques are but one part of a comprehensive stress management program, through regular and continuous practice appropriate for each person, they will make an effective role in stress management. In this review, author reviewed how to practically use meditation, progressive muscle relaxation and autogenic training, in more detail. In the treatment of various stress-related disease, especially in psychiatric disorders, the relaxation technique may be a useful complement to conventional treatment and serves as an intervention between stress and disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.2
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• pp.114-123
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• 2017

Purpose: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. Methods: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling. Whole exome sequencing and Sanger sequencing were performed on the patients and the family members. Results: Idiopathic or viral hepatitis was diagnosed in 34%, metabolic disease in 20%, total parenteral nutrition induced cholestasis in 16%, extrahepatic biliary atresia in 14%, genetic disease in 10%, neonatal lupus in 2%, congenital syphilis in 2%, and choledochal cyst in 2% of the patients. The patient with progressive familial intrahepatic cholestasis had novel heterozygous mutations of ABCB11 c.11C>G (p.Ser4*) and c.1543A>G (p.Asn515Asp). The patient with benign recurrent intrahepatic cholestasis had homozygous mutations of ABCB11 c.1331T>C (p.Val444Ala) and heterozygous, c.3084A>G (p.Ala1028Ala). Genetic confirmation of ABCB11 spectrum liver disorder led to early liver transplantation in the progressive familial intrahepatic cholestasis patient. In addition, the atypically severe benign recurrent intrahepatic cholestasis patient was able to avoid unnecessary liver transplantation after genetic analysis. Conclusion: ABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate optimal diagnosis and treatment.

• Journal of Periodontal and Implant Science
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• v.24 no.1
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• pp.39-49
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• 1994

It has been believed that antioxidant enzymes such as CuZn- and Mn-superoxide dismutase and catalase protect the tissue from damage resulting from the oxygen derived free radicals($O_2\;^-$, $H_2O_2$ and OH ). The purpose of this study was to investigate the relationship between activity of antioxidant enzymes including CuZn- and Mn- superoxide dismutase and catalase and inflammatory periodontal disease and periodontal parameters. For this study, the patients were classified into normal, gingivitis, adult periodontitis and rapidly progressive periodontitis, and then their papillary bleeding index(PBI) and probing depth were checked. Gingival tissues were surgically obtained from the patients during periodontal surgery, extraction, and clinical crown lengthening procedure. The activity of CuZn- and Mn- superoxide dismutase and catalase in the gingival tissues was measured by using UV-spectrophotometer by the same methods as Crapo et al. And Aebi did, respectively. The results were as follows : 1. CuZn- and Mn- and total-superoxide dismutase activity were significantly low in rapidly progressive periodontitis group in comparison to normal group (P<0.05). 2. In comparison of the antioxidant enzyme activity according to papillary bleeding index group(PBI), Mn-superoxide dismutase activity only was significantly lower in PBI 2, 3, and 4 groups than PBI 0 group(P<0.05). 3. Superoxide dismutase activity failed to show any significant difference according to probing depth. But significant]y high catalase activity was shown in deep pocket group (${\ge}7mm$)(P<0.05). In conclusion, these results suggest that the activity of Mn-superoxide dismutase among the antioxidant enzymes may reflect the inflammatory status of gingival tissue and that the decreased activity of superoxide dismutase may be one of responsibe factors for progression of rapidly progressive periodontitis.

• The Korean Journal of Legal Medicine
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• v.42 no.4
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• pp.159-163
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• 2018

Progressive muscular dystrophy (PMD) is a primary muscle disease characterized by progressive muscle weakness and wasting, which is inherited by an X-linked recessive pattern and occurs mainly in males. There are several types of muscular dystrophies classified according to the distribution of predominant muscle weakness including Duchenne and Becker, Emery-Dreifuss, facioscapulohumeral, oculopharyngeal, and limb-girdle type. Clinical manifestations of PMD are clumsy, unsteady gait, pneumonia, heart failure, pulmonary edema, hydropericardium, hydrothorax, aspiration, syncopal attacks, and sudden cardiac death. The deceased was a 34-year-old man, and the onset of the first clinical symptom, gait disturbance, was in his late teens. His elder brother had the same disease and experienced brain death after a head trauma and died after mechanical ventilation was discontinued. After an autopsy, we found contracture of the joints, pseudohypertrophy of the calf, wasting and fat replacement of the thigh muscle, pericardial effusion (80 mL), fibrosis and fat replacement of the cardiac ventricular wall, pulmonary edema, and froth in the bronchus. The cause of death was heart failure and dyspnea due to muscular dystrophy. There was no sign or suspicion of foul play in his death.

• Annals of Clinical Neurophysiology
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• v.11 no.2
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• pp.74-77
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• 2009

We report a 23-year-old woman with adult Sandhoff disease, who presented with motor neuron disease phenotype. The patient had experienced progressive motor weakness in four extremities since 1 year prior to admission. Electrophysiological study revealed wide-spread denervation potentials, and the assay of total hexosaminidase involving A and B activities showed decreased levels of these activities, which was consistent with Sandoff disease. This is the first Korean case of adult Sanhoff disease presented as a motor neuron disease phenotype.

• Journal of Korean Neurosurgical Society
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• v.57 no.6
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• pp.440-444
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• 2015

Quality of life is the current trend and issue for the most of human diseases. In moyamoya disease (MMD), surgical revascularization has been recognized as the possible assistance to reduce the neurological insult. However, the progressive nature of the disease has been invincible so far. To improve the quality of life of MMD patients not only the protection from the neurological insult but also the maintenance or improvement of cognitive function is inevitable. For pediatric MMD patients, younger age or longer duration of disease is the key factor among the prognostic factors for bad neurological outcomes. Hence, 'the earlier, the better' is the most precious rule for treatment. Protection from neurological insult is very critical and foremost important to improve cognitive outcome. Clinicians need to know the neuropsychological profile of MMD patients for the care of whole person and make an effort to protect the patients from neurological insults to maintain or improve it.

• Childhood Kidney Diseases
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• v.22 no.2
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• pp.81-85
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• 2018

Amyloidosis is a rare disease that results from the deposition of extracellular protein in various body tissues, causing progressive organ dysfunction. Secondary renal amyloidosis is a rare but serious complication of chronic inflammatory bowel disease, particularly in patients with Crohn's disease or ulcerative colitis. We report a case of secondary renal amyloidosis in a pediatric patient who reported a 16-year history of "very early onset inflammatory bowel disease". Intensive treatment including repeated infliximab infusions improved clinical parameters of inflammatory bowel disease, although renal dysfunction showed progression. Amyloidosis should be considered in patients with IBD, particularly if they suffered disease progression.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.28 no.2
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• pp.79-83
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• 2017

Neurodegenerative diseases such as Parkinson's disease and amyotrophic lateral sclerosis may induce impairment of speech motor system. This review discusses the characteristics of dysarthria and symptom management for these conditions. Given the progressive nature of the neurodegenerative diseases, speech-language pathologists must be aware of appropriate augmentative and alternative communication equipment at the early stage of the disease course. Patients with neurodegenerative diseases can maintain functional communication with augmentative and alternative communication supports.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.182-185
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• 2014

GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of ${\beta}$-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by ${\beta}$-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.