• Clinical and Experimental Pediatrics
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• v.57 no.1
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• pp.50-53
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• 2014

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with severe sepsis-like features and required mechanical ventilation and continuous venovenous hemodiafiltration. Flow cytometry analysis showed marked HLH and complete absence of intracytoplasmic perforin expression in cytotoxic cells; therefore, we performed molecular genetic analyses for PRF1 mutations, which showed that the patient had a compound heterozygous mutation in PRF1, that is, c.65delC ($p.Pro22Argfs^*2$) and c.1090_1091delCT ($p.Leu364Glufs^*93$). Clinical and genetic assessments for FHL are required for neonates with refractory fever and progressive multiple organ failure, particularly when there is no evidence of microbiological or metabolic cause.

• Clinical and Experimental Pediatrics
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• v.50 no.2
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• pp.213-217
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• 2007

Pompe disease is a genetic disorder caused by a deficiency of acid ${\alpha}$-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe symptoms and prognosis. Therapy for Pompe disease is intended to directly address the underlying metabolic defect via intravenous infusions of recombinant human GAA to replace the missing enzyme. We report a case of atypical infantile-onset Pompe disease that presented symptoms in infancy but had less severe clinical manifestations and improved after GAA enzyme replacement ($Myozyme^{(R)}$, Genzyme Co., MA, USA) therapy. It is very important that pediatricians become aware of signs and symptoms of Pompe disease, such as a nasal voice or a waddling gait at an early stage so that these patients can benefit from appropriate GAA replacement therapy as soon as possible.

• Journal of Physiology & Pathology in Korean Medicine
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• v.22 no.3
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• pp.562-568
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• 2008

Theosteoporosis, which is occurred after menopause, is a kind of metabolic bone disorder. It develops when the bone mass begins to decrease radically and its main symptoms are the bone fracture and the height-shortening. This thesis aims at what effects the Phlomis umbrosa will have for the prevention of the osteoporosis in the SD-rat that is caused by the ovariectomy. The 24 female white rats, after their ovaries are removed, were divided into the Normals, the Control group, Phlomis umbrosa Administrated group. After then, for 8 weeks, D.W to the normals and the control, and the Phlomis umbrosa(46 mg/100 g) to the Phlomis umbrosa group were given in the mouths of them. After 8 weeks the rats were sacrificed. And the weight, albumin, AST, ALT, total-cholesterol, triglyceride, P, Ca, T4, estradiol, the weight of the femur, the amount of tibia ash, the area of trabecular bone, the thickness of trabecular bone were measured. The serum analysis shows that the total cholesterol of the Phlomis umbrosa Administrated group reduced remarkably, compared to that of the control group. AST, ALT, ALP, T4 of Phlomis umbrosa group were decreased, but not in distinct measure. Estradiol of Phlomis umbrosa group increased substantially compared to that of the control group, but albumin, triglyceride, Phosphorous, calcium of the group showed the tendency to increase, but not so remarkably. The histological observation shows that the area and the thickness of (trabecular bone), the number of osteoclast of the Phlomis umbrosa groups increased significantly compared to those of the control group. Conclusions: The above experiment shows that Phlomis umbrosa has the prevention effect by supplying estradiol.

• Archives of Plastic Surgery
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• v.32 no.6
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• pp.699-705
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• 2005

Transgender is the severe type of gender identity disorder. The prevalence rate of transgender is reported to occur to about 1 out of 50,000 men, and about 1 out of 10,000 women. As for Korea, it is estimated to have about 1400 transgender patients. Lately, not only the numbers of them are increasing but also they are influencing our society increasingly. As for female transgender patients, they take female hormone for a long term before and even after the operation to maintain their physical identity of female. We have analyzed insulin like growth factor-1(IGF-1), insulin like growth factor protein binding-3(IGFBP-3), female hormone, male hormone and thyroid hormone in female transgender patients who have undergone the gender reassignment operation. We examined the changes of hormone level due to having female hormone steadily, and also examined how the steady use of the hormone could affect body organs. As for IGF-1, it showed significantly low in the female transgender group compared to control ($319.30{\pm}37.4$ vs $539{\pm}55.0$, p<0.05). As for IGFBP-3, there was no significant difference ($2859{\pm}200.3$ vs $2607{\pm}262.5$, p>0.05). As for female hormone, there was no significant differences in FSH($13.42{\pm}13.8$ vs $8.95{\pm}3.5$, p>0.05), estradiol($104.41{\pm}97.1$ vs $121.68{\pm}60.2$, p>0.05), and LH($7.62{\pm}5.6$ vs $7.4{\pm}3.3$, p>0.05). Even in comparison of testosterone, there was no significant differences($0.23{\pm}0.09$ vs $0.33{\pm}1.33$, p>0.05). As for thyroid hormone, there was no significant differences in TSH and free T4($1.34{\pm}0.94$ vs $1.71{\pm}0.12$, $1.4{\pm}0.37$ vs $1.46{\pm}0.17$, p>0.05). Therefore, this study concludes that apart from the decreased level of IGF-1, the possible endocrine side-effect problem due to female hormone seems to be low because there was no differences of female, male, and thyroid hormone level compared with normal female. Further study will be required in metabolic change including bone metabolism occurred by decrease level of IGF-I.

• The Journal of Internal Korean Medicine
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• v.26 no.1
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• pp.275-280
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• 2005

Hyperlipidemia is one of the major factors causing the atherosclerosis of coronary arteries and well-documented modifiable risk factors of stroke, especially of the ischemic type. For Insulin-Dependent Diabetes Mellitus sufferers, if blood sugar is appropriately maintained, lipid and lipoprotein are normal, but if blood sugar is inappropriately maintained or clinical Diabetic nephropathy induces metabolic disorder of lipid, then Total cholesterol, low density lipoprotein cholesterol, triglyceride and very low density lipoprotein cholesterol levels go up and high density lipoprotein levels go down. The purpose of this study is to evaluate the effect of treatment with Ojeok-san and to observe the changes in Fasting Blood Sugar(FBS), 2 Hours Postprandial Blood Sugar(PP2h), Haemoglobin A1c(HbA1c), Total Cholesterol(T-Chol) and Triglyceride(TG). After the treatment, Fasting Blood Sugar decreased from 149mg/dl to 89mg/dl. 2 Hours Postprandial Blood Sugar decreased from l85mg/dl to 110mg/dl. Haemoglobin A1c decreased from 6.3% to 5.7%. Total Cholesterol decreased from 268mg/dl to 217mg/dl. And Triglyceride decreased from 438mg/dl to 265mg/dl. These results support a role for oriental medical therapy in treating Diabetic Hyperlipidemia. Further case studies of herbal treatment of this ailment are needed.

• Journal of Food Hygiene and Safety
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• v.17 no.4
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• pp.210-215
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• 2002

To elucidate the effect of water and methanol extracts of Cordyceps militaris, Paecilomyces japonicus and their mycelin on diabetes and organs in STZ-induced diabetic rats, weight of organs (liver, kidney, spleen, thymus), plasma level of blood glucose, total protein, triglyceride, free fatty acid, hepatic total protein, triglyceride and glycogen were determined as compared with those of negative control group. The blood glucose level of CM-1 and CM-M group showed significantly reduced, and all groups except CM-2 increased in body weight. CM-1 decreased the liver weight, and PJ-2 decreased the kidney weight. In all groups except PJ-2, plasma total protein level was increased, and the triglyceride, and CM-3 and CM-H decreased the free fatty acid was decreased in CM-3, PJ-1 and PJ-2 treated groups. In hepatic tissue, total protein was significantly increased in CM-H and CM-M treated group, and in all groups except CM-2, the triglyceride were significantly decreased and glycogen was increased. In conclusion, CM-1 and CM-M that possess potential antidiabetic activity increased glycogen and lowered serum glucose level, thus they might improve metabolic disorder originated from diabetes by increasing serum protein and reducing excess triglyceride in serum and liver tissue.

• Journal of the Korean Society of Food Science and Nutrition
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• v.32 no.8
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• pp.1337-1343
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• 2003

Diabetes mellitus has been known to be a state of increased oxidative stress. Free radical formation and lipid peroxidation are accelerated in this metabolic disorder. Buchu (Allium tuberosum Rottler) contains lots of antioxidative nutrients such as chlorophyll, vitamin C, $\beta$-carotene, phenolic compounds and sulfur compounds. To investigate the protective effects of buchu, 10% lyophilized buchu diet was fed to streptozotocin (STZ)-induced diabetic rats for 14 weeks and lipid peroxidation, protein oxidation, contents of reactive oxygen species, activities of antioxidative enzymes and contents of accumulated lipofuscin were measured as indicators of oxidative stress. Hepatic MDA and carbonyl contents tended to decrease in 10% buchu diet group compared with control group. Dietary buchu significantly suppressed lipid and protein oxidation in the skin of rats (p<0.05). Contents of hepatic hydroxyl radicals, which exert the highest toxicity among the reactive oxygen species, were significantly decreased in rats fed 10% buchu diet (P<0.05). Activities of antioxidative enzyme, such as superoxide dismutase, catalase, and glutathione peroxidase, tended to increase in liver and skin of rats fed 10% buchu diet, while hepatic catalase activity was significantly increased in buchu group compared with control group. Buchu supplementation significantly inhibited the accumulation of lipofuscin, an end-product of lipid peroxidation reactions induced by reactive oxygen radicals, in eye tissues compared with control diet (p<0.001). In conclusion, buchu supplementation diminished the oxidative stress, so dietary buchu could help to attenuate diabetes complications.

• Tuberculosis and Respiratory Diseases
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• v.48 no.6
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• pp.973-979
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• 2000

A glycogen storage disease(GSD) type I is a metabolic disease caused by a deficiency in one of the components of the glucose-6-phosphatase(G-6-Pase) system. This disorder results in hypoglycemia, hepatomegaly, lactic acidemia, hyperlipidemia, and hyperuricemia. Comon long(-)term complications include growth retaradation, gout, hepatic adenomas, osteoporosis and renal disease. However the cardiovascular system is rarely involved, and only six cases of pulmonary hypertension associated with GSD I have been reported in the literature. We experienced a case of pulmonary hypertension with type I GSD. A 31-year-old rnan, who had discovered type I GSD and received portocaval shunt operation 22 years ago, was admitted to the hospital with the chief complaint of dyspnea. Echocardiographic examination and cardiac catheterization revealed severe pulmonary hypertension. Nitric oxide and oral prostacycline derivative(beraprost) were tried without acute favorable response. After one year with beraprost, dyspnea, exercise capacity and hemodynamic parameters were improved. We report this case with a review of the literature.

• Journal of Yeungnam Medical Science
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• v.8 no.1
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• pp.86-97
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• 1991

To obtain the basic data of prognosis of acute carbon monoxide(CO) intoxication, one hundred and sixteen cases of CO intoxication defined by carboxyhemoglobin(COHb) and admitted via emergency room of Yeungnam University Hospital from Oct. '85 to April' 89 have been clinically analyzed and evaluated, including delayed postanoxic encephalopathy(DPE) and the following results were obtained. 1. The ratio of male to female was 1:1.5 and mental state was drowsy mostly(26.2% of 116 cases) 2. The more disturbed the mental state, the more decreased was the arterial pH and $PaCO_2$, which may be the result of metabolic acidosis. 3. The early laboratory findings in patients of CO intoxication were as follows : leukocytosis-65.5%, increase of hematocrit-23.3%, hyperglycemia-19.8%, increase of GPT-19.8% increase of creatinine-0.9%, and glucosuria-12.1%. 4. The early findings of EKG were abnormal in 35.3% : change of rhythm-25.0%, abnormal ST segment-15.5% (change of rhythm and abonormal ST segment-5.2%) but the conduction disorder was not present. 5. The abnormal EEG above mild degree was 93.1%, of which moderate was most frequent(80.2%). 6. The incidence of DPE was 7.8% among all admitted CO patients. DPE cases had long duration of exposure time(8 hours), severe leukocytosis(20,000) and an abnormal EEG(MA).

• Journal of Life Science
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• v.17 no.11
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• pp.1464-1471
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• 2007

Diabetes mellitus is a chronic metabolic disorder, leading to many complications including cognitive deficit. Regular exercise has often been recommended as a therapeutic maneuver to the diabetic patients for the prevention of secondary complications. In the present study, the effects of treadmill exercise on memory and brain-derived neurotrophic factor (BDNF) in the hippocampus of streptozotocin (STZ)-induced diabetic rats were investigated. Male SD rats, aged 6 weeks, were randomly assigned to the following three groups: control group(n=8), STZ-induced diabetic group(n=8), and STZ-induced diabetes and exercise group(n=8). Diabetes was induced by a single injection of STZ (50 mg/kg body weight). Treadmill running was conducted with duration and frequency of 30 minutes and 5 times per week, respectively, for 8 weeks. Memories were tested in the Morris water maze. Western blotting was performed to detect BDNF expression in the hippocampus. In this study, we found that compared to the control group, the STZ-induced diabetes group had a significantly impaired cognitive performance along with suppressed BDNF expression in the hippocampus and the exercise group had a higher cognitive function in diabetic rats. Therefore, the current findings of the study show that a treadmill running exercise can improve diabetes-induced impairment of cognitive function. And the improved cognitive function appears to be related to an alleviation in diabetes-induced BDNF expression in hippocampus.