• Journal of Genetic Medicine
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• v.1 no.1
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• pp.39-43
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• 1997

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is inherited maternally, in which the MTTL1*MELAS 3243 mutation has been most commonly found as a heteroplasmy of A to G point mutation in the $tRNA^{Leu(UUR)}$ gene. The MTTL1*MELAS 3271 mutation is known to be the second common mutation, though clinical features of both mutations are not remarkably different. Recently, a variety of minor mutations have been reported in patients with MELAS. In this study, major efforts have been made to investigate the allele frequency of major three mutations including MTTL1*MELAS 3243, 3252, 3271 in 10 Korean families with MELAS probands. The PCR and subsequent direct sequencing of the PCR product in the regions spanning these three mutation sites were employed to identify the mutation in each proband. All family members have been screened for the presence of these three mutations by PCR-RFLP assay using Apa I, Acc I and Bfr I restriction enzymes. The MTTL1*MELAS 3243 mutation was most commonly found (7 out of 10 families tested) followed by the MTTL1*MELAS 3271 which was identified in 1 out of 10 families. In the remaining 2 families none of three mutations were found, indicating the presence of either nuclear mutation or yet unidentified mitochondrial DNA mutation in these families.

• Journal of Yeungnam Medical Science
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• v.25 no.2
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• pp.117-123
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• 2008

Dermatomyositis is characterized by progressive, symmetric, proximal muscle weakness and a nonsuppurative inflammatory myopathy of unknown etiology involving predominantly skeletal muscles. It is also characterized by typical skin lesions. Interstitial lung disease has a poor prognosis when it is associated with dermatomyositis. Organizing pneumonia is a disease in which granulation tissue fills the lumina of terminal and respiratory bronchioles and extends into the distal airspaces. The cryptogenic nature of the process is appreciated in that organizing pneumonia patterns of injury can be seen in secondary forms of the disease (secondary organizing pneumonia). Organizing pneumonia has been reported to occur in 5~10% in dermatomyositis-polymyositis patients. Anti-histidyl tRNA synthetase antibody (anti-Jo-1) is a predictive disease marker that is reported to occur in up to 70% of patients. We describe a 49-year-old male dermatomyositis patient who presented with organizing pneumonia and was found to have negative anti-Jo-1 antibody.

• Journal of Yeungnam Medical Science
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• v.27 no.1
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• pp.42-46
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• 2010

Eosinophilic myositis is a rare idiopathic inflammatory muscle disease, and the patients with this malady present with diverse signs and symptoms such as muscle swelling, tenderness, pain, weakness, cutaneous lesions and eosinophilia. The etiology and pathogenesis of eosinophilic myositis remain elusive. Several drugs may occasionally initiate an immune mediated inflammatory myopathy, including eosinophilic myositis. We report here on a case a 17-year-old female patient who had taken anti-tuberculosis medicine for tuberculosis pleurisy. She presented with many clinical manifestations, including fever, skin rash, proximal muscle weakness, dyspnea, dysphagia and hypereosinophilia. She was diagnosed with eosinophilic myositis by the pathologic study. The muscle weakness progressed despite of stopping the anti-tuberculosis medicine, but the myositis promptly improved following the administration of glucocorticoid. Although drug induced myopathies may be uncommon, if a patient presents with muscular symptoms, then physicians have to consider the possibility of drug induced myopathies.

• Herbal Formula Science
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• v.18 no.2
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• pp.267-277
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• 2010

Objective : Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS) syndrome is a progressive neurodegenerative disorder. The typical presentation of patients with MELAS syndrome includes features such as mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes. Other features, such as seizures, diabetes mellitus, hearing loss, cardiac disease, short stature, endocrinopathies, exercise intolerance, and neuropsychiatric dysfunction are clearly part of the disorder. Approximately 80% of patients with the clinical characteristics of MELAS syndrome have a genetic mutation. This progressive disorder is reported to have a high morbidity and mortality. This case report is intended to estimate clinical effects of oriental meedicinal treatment of MELAS syndrome. Methods : A 44 year old female patient diagnosed as MELSA syndrome was treated with general oriental medicinal therapy including acupuncture, moxibustion, cupping, pharmacupunture and herbal medication in 20XX in Wonkwang Medical Center Gwangju. And the changes in symptoms and signs were evaluated as time dependently. Results : Although there is currently no curable treatment and MEALS syndrome is tend to progress, our treatment showed improvement in general weakness, gait disturbance and pain in the patient. Conclusion : Our case report suggests that various oriental medicinal treatment could be effective for improvement of MELAS syndrome and may represent a new potential therapeutic approach to control the disease. It could be applied to improve general condition, prevent relapse, enhance the quality of life and reduce complaints in the patient.

• Nutrition Research and Practice
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• v.13 no.1
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• pp.3-10
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• 2019

BACKGROUND/OBJECTIVES: The $NAD^+$ precursor nicotinamide riboside (NR) is a type of vitamin $B_3$ found in cow's milk and yeast-containing food products such as beer. Recent studies suggested that NR prevents hearing loss, high-fat diet-induced obesity, Alzheimer's disease, and mitochondrial myopathy. The objective of this study was to investigate the effects of NR on inflammation and mitochondrial biogenesis in AML12 mouse hepatocytes. MATERIALS/METHODS: A subset of hepatocytes was treated with palmitic acid (PA; $250{\mu}M$) for 48 h to induce hepatocyte steatosis. The hepatocytes were treated with NR ($10{\mu}M$ and 10 mM) for 24 h with and without PA. The cell viability and the levels of sirtuins, inflammatory markers, and mitochondrial markers were analyzed. RESULTS: Cytotoxicity of NR was examined by PrestoBlue assay. Exposure to NR had no effect on cell viability or morphology. Gene expression of sirtuin 1 (Sirt1) and Sirt3 was significantly upregulated by NR in PA-treated hepatocytes. However, Sirt1 activities were increased in hepatocytes treated with low-dose NR. Hepatic pro-inflammatory markers including tumor necrosis factor-alpha and interleukin-6 were decreased in NR-treated cells. NR upregulated anti-inflammatory molecule adiponectin, and, tended to down-regulate hepatokine fetuin-A in PA-treated hepatocytes, suggesting its inverse regulation on these cytokines. NR increased levels of mitochondrial markers including peroxisome proliferator-activated receptor ${\gamma}$ coactivator-$1{\alpha}$, carnitine palmitoyltransferase 1, uncoupling protein 2, transcription factor A, mitochondrial and mitochondrial DNA in PA-treated hepatocytes. CONCLUSIONS: These data demonstrated that NR attenuated hepatic inflammation and increased levels of mitochondrial markers in hepatocytes.

• Journal of fish pathology
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• v.34 no.1
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• pp.63-70
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• 2021

As a part of research to elucidate the pathogenesis of so called Soft Tunic Syndrome(STS), that caused mass mortalities in the cultured sea squirts, Halocynthia roretzi, the epidemiological and pathological analysis were done to both clinically normal and diseased groups of the farms of Tongyoung and Geoje coastal areas in southeast sea from February to July, 2008. In the histological finding of the tunic, most of individuals showed tunic softness syndromes that included the disarrangement and destruction of tunic fiber with the simultaneous presence of flagellates-like cells, recently suspected as main agents of tunic softness syndromes. Simultaneously, the intensive degenerative changes of the skeletal muscle of diseased sea squirts were recognized. The changes were characterized with the hyalinization and condensation of muscle fibril and hemocytic infiltration in the muscle fibers. Those were thought to be a kind of typical Zenker's necrosis as in the skeletal muscle of higher vertebrates. Besides of the diseased sea squirts, Zenker's necrosis of skeletal muscles were seen in the normal ones. Epidemiological inquiry for diseased groups revealed that the higher incidences of tunic softness syndrome were recorded in the fast growing groups and in the sites presuming the organic pollution. And Higher malondialadehyde(MDA) and glutathione peroxidase(GPx) activity were detected in the groups showing STS. Those results suggested that Zenker's necrosis of body muscles was a kind of"nutritional myopathy" by oxidative stress. Conclusively, it was considered that Zenker's necrosis of body muscles gives an important clue for elucidating pathogenesis of STS of cultured squirts. And it seems that the necrosis were caused by the oxidative stress to body muscle during abnormal rapid growth of sea squirts.

• Clinical and Experimental Pediatrics
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• v.48 no.9
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• pp.929-934
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• 2005

Purpose : This study describes how often complementary and alternative medical(CAM) therapies, what patterns of CAM therapies utilization, what types of CAM therapies and why CAM therapies are used in children and adolescent with chronic disease. Methods : We interviewed and filled out questionnaires with parents of patients suffering from asthma, atopic dermatitis, congenital myopathy, epilepsy and so on from Mar 2004 to Aug 2004. Results : Two hundred fifty two parents answered questionnaires; 160 cases(63.5 percent) had used CAM therapies. Utilization of CAM therapies according to each chronic disease was as follows : congenital myopathy(100 percent), atopic dermatitis(91.1 percent), asthma(72.5 percent), chronic diarrhea (50.0 percent), epilepsy(17.1 percent) etc. Types of CAM therapy were as follows : dietary supplement (31.1 percent), herb medicine(23.4 percent), massage(14.2 percent), acupuncture(4.6 percent) etc. Sixty four(40.0 percent) case underwent more than two types of CAM therapies simultaneously. One hundred thirty three(83.1 percent) case were asked through non-medical prescription. Ninety nine(61.9 percent) case were recognized positive effect of CAM therapies. Parents' and childrens' ages were influential factors in CAM therapies utilization : the older the parents and the younger the children, the higher the utilization. Conclusion : Although patients receive treatment with western medicine, many of them not only undergo CAM therapies, especially more than two types, but also recognize the positive effects of CAM therapies. As a result, we suggest that it is easy to use of CAM therapies, and the positive effects of CAM therapies are prominent, domestically. Therefore, medical approach and study about the effectiveness and side effects of CAM therapies is necessary to avoid the imprudent use of such therapies.

• Journal of fish pathology
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• v.3 no.2
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• pp.69-77
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• 1990

Tilapia, Oreochromis niloticus, weighing 100g on average was fed on the oxidized pellet diets in peroxide value (POV) 102 meq/kg, with or without the vitamin mixture of C and E for 67 days. After administration of vitamin mixture for 67 days, the fish fed them displayed better growth than the fish fed oxidized pellet only. The fish fed low level of the vitamin mixture or the oxidized pellet retained visceral ceroidosis but did not show myopathy. But the fish administered high level of the vitamin mixture lossed macrophages disposing of ceroid in the viscera. Based on the results, the administration of vitamin mixture at high level was effective as prophylaxis for ceroidosis.

• Journal of Veterinary Clinics
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• v.31 no.2
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• pp.102-107
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• 2014

This study was conducted to analyze the results of inhalation anesthesia performed at the equine hospital of Korea Racing Authority (KRA) and to find out the influencing factors on mortality during and/or after inhalation anesthesia. Among 585 cases of anesthesia, orthopedic surgery (410) was performed the most frequently, followed by colic surgery (85) and upper airway surgery (45). Twenty out of 585 horses were either euthanized or died during and/or after anesthesia. Among those twenty horses, fourteen horses received colic surgery, three received orthopedic surgery, and three others received upper airway surgery. The major causes of mortality were rupture of intestine in colic surgery and airway obstruction during recovery in upper airway surgery. Myopathy, refracture, laminitis were the causes of mortality in orthopedic surgery. Consequently, the horses that received colic and upper airway surgeries showed significantly high mortality rate rather than horses that received orthopedic surgery (p < 0.01). According to the results, horses that received colic surgery showed the highest mortality rate from euthanasia due to poor and grave prognosis. To reduce the perioperative mortality of horses, it is recommended to perform perioperative intensive care for colic surgery and careful monitoring for upper airway surgery during recovery.

• The Korean Journal of Nuclear Medicine
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• v.3 no.2
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• pp.39-47
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• 1969

A clinical analysis was made on 161 cases of hyperthyroidism seen at the Radioisotope Laboratory of Kyungpook National University Hospital. This series consisted of 144 cases of diffuse goiter and 17 cases of nodular goiter. 1) Hyperthyroidism was most prevalent in the 4th decade and male to female ratio was 1:4.6. 2) Cardinal symptoms in the order of frequency were weakness, easy fatigability, palpitation, weight loss, nervousness, perspiration, heat intolerance, increased appetite, insomnia and dysmenorrhea. 3) Major physical findings in the order of frequency were goiter, fine tremor, tachycardia, wide pulse pressure, emaciation, warm moist skin, exophthalmos, systolic hypertension and atrial fibrillation. 4) The complications were ophthalmopathy (34.2%), thyrotoxic heart disease (5.6%), thyroid crisis (1 case), pretibial myxedema (1 case) and thyrotoxic myopathy (1 case). 5) Mean values of the six hour and twenty-four hour $^{131}I$ uptakes by the thyroid glands were 67.5% and 71.6%, respectively, in diffuse goiter and 64.5% and 65.0%, respectively, in nodular goiter. 6) Mean values of twenty-four hour $PB^{131}I$ conversion ratio were 76.3% in diffuse goiter and 70.2% in nodular goiter and those of the basal metabolic rate was +51% in the former and +41% in the latter. Mean serum cholesterol level was 152mg% in diffuse goiter and that in nodular goiter was 175mg%. 7) Among the 134 cases treated with $^{131}I$, 66 cases (49.3%) were successful1y controlled with single dose and in the majority of the cases the initial therapeutic dose required was $4.1{\sim}5.0mC$ in diffuse goiter and $5.1{\sim}6.0mC$ in nodular goiter. 8) With $^{131}I$ treatment the symptoms improved in the following order: heat intolerance, emaciation, nervousness, insomnia, easy fatigability, weakness, fine tremor, goiter, perspiration, exertional dyspnea and palpitation. And in a few cases improvement of even exophthalmos was seen. 9) Following $^{131}I$ treatment myxedema occurred in 4 cases (3%) and reccurrence in 9 cases (6.8%).