• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.14-22
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• 2012

Objectives: This study was performed to review clinical manifestations of hyperphenylalaninemia patients in Korean. Methods: 178 cases of hyperphenyalaninemia were diagnosed at department of pediatrics, Soonchunhyang University Hospital from January, 1983 to August. We reviewed DNA analysis, MR imaging, EEG, radiography of the left hand and wrist, bone densitometry (BMD), IQ test of hyperphenyalaninemia patients. Results: Out of 178 cases, 161 cases were diagnosed classic phenylketonuria and 17 cases were diagnosed BH4 deficiency. 122 cases performed DNA analysis. R243Q (10.3%), Y204C (9.9%), and IVS4-1G>A (8.1%) mutations were predominant. 22 cases underwent MR imaging. Varying degrees of symmetrical high signal intensity were noted on T2-weighted sequences in the periventricular deep white matter of 15 cases. 23 cases were performed EEG. 12 cases (52.3%) showed abnormal pattern. EEG abnormalities showed in 11 cases. On lumbar BMD four of 11 cases (36%) showed reduced bone density of more than 1 S.D. in four of 11 cases, bone age was less than chronological age by at least one year. 18 cases were performed IQ test. Mean IQ scores was $84{\pm}21.6$. Among older than 15 years (9 cases), Mean IQ scores was $72{\pm}21.2$. PTPS deficiency was 14 cases, DHPR deficiency was 2 cases, and GTPCH deficiency was 1 case. Conclusion: We confirmed there were varieties of DNA mutations. And MR imaging and EEG were nonspecific in PKU patients. Older children showed lower IQ score. Low phenylalanine diet prevents brain damage in PKU patient. Not only first few years of life but also lifetime, Keeping low phenylalanine diet is important.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.33-43
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• 2005

Purpose: X-linked adrenoleukodystrophy(ALD) is a rare disorder that shows a great deal of phenotypic variability. We subdivided chidhood X-linked ALD patients into several phenotypes by the age at onset, the sites of most severe clinical involvement and the rate of progression of neurologic symptoms. Methods: Thirteen patients who had been diagnosed as X-linked ALD and followed up for at least one year were enrolled from 1996 to 2003. Results: 1. Ten had childhood cerebral ALD, who showed first neurologic symptoms at 7.02 years and progressed rapidly: interval between first symptoms and vegetative state was 1.35 years, and interval from initial symptoms to death was 3.35 years. Treatment with Lorenzo's oil did not prevent neurologic progression. Two patients who underwent umbilical cord blood transplantation died. 2. Two had adolescent cerebral ALD. They had first symptoms at 11.5 years, and showed tendency to progress less rapidly than childhood cerebral form patients. 3. One "Addison only" patient who had adrenal insufficiency without nervous system involvement remained asymptomatic during Lorenzo's oil treatment. 4. All cerebral form patients except one showed the lesions in both parieto-ocipital white matter in brain magnetic resonance imaging. Conclusion: The cerebral ALD was the most common form in childhood and was asoociated with a serious prognosis.

• Journal of Life Science
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• v.20 no.7
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• pp.1012-1018
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• 2010

The aim of this study was to determine whether Alzheimer's amyloid precursor protein (APP) is dysregulated in adipose tissues of C57BL/6 male mice by high-fat diet (HFD) induced obesity, aging, or streptozotocin (STZ)-induced diabetes. APP mRNA expression was examined by quantitative real-time PCR (QPCR) in subcutaneous (SAT) and epididymal adipose tissues (EAT) from mice in 8 different condition groups. By combining conditions of age (16 weeks/26 weeks of age), diet (normal diet (ND)/high-fat diet), and induction of diabetes (non-diabetic/diabetic), 88 mice were divided into 8 different groups. QPCR demonstrated that APP expression in SAT was significantly increased by about two-fold in HFD-induced obese mice compared to both 16 week-old and 26 week-old mice in the ND group (16 weeks p=0.001; 26 weeks p<0.0001), but no changes in EAT was found. Particular effects of aging on APP gene expression were not observed in either adipose tissue depots. Significantly decreased APP expression was found in SAT in STZ-induced diabetic mice fed on ND or HFD at 16 weeks of age (ND p<0.05; HFD p<0.01). Linear regression analysis demonstrated that APP expression levels correlated with body weight in both the non-diabetic group (R=0.657, p<0.0001, n=39) and the diabetic group (R=0.508, p=<0.0001, n=49), but did not correlate with plasma glucose levels, which suggests that decreased APP expression in STZ-induced diabetic mice is most likely due to weight loss rather than hyperglycemia. These data confirm APP dysregulation by weight changes in humans and suggest a possible role linking midlife obesity with the later development of amyloidogenesis in the brain of older patients with Alzheimer's disease.

• Journal of Preventive Medicine and Public Health
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• v.29 no.4 s.55
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• pp.765-783
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• 1996

This study surveyed and measured the level and structure of cancer deaths and their trends over time for offering the fundamental data of e cancer prevention and control in Pusan city in the future. Authors conducted the study of descriptive epidemiology using materials derived from the computerized data of total 3,722 certified cancer deaths in Pusan city from January 1 to December 31, 1993 registered on the National Statistical Once, the Republic of Korea. The obtained results were as follows: 1. According to the total registered cases of deaths(16,331 cases) in Pusan city during 1993, cancer(3,722 cases) and cerebrovascular disease(2,118 cases) were the first and second cause of deaths as 23.1% and 16.9%, respectively. These pattern showed the change between cancer (14.7%) and cerebrovascular disease(18.5%) in order of frequency in comparison to 1982. Also, the total number of cancer deaths was increased in comparison to 1982. The rate of death certification by physicians was 87.1% of all registered deaths, which was increased to 6.8% in comparison to 1982(80.3%). 2. Crude death rate and cancer specific death rate was 4.06 per 1,000 populations and 93.8 per 100,000 populations(male:117.8, female:70.0), respectively. The former was similar to that of 1982, but the latter was increased to 1.6 times as that of 1982. 3. Age-adjusted cancer specific death rate by standardization with whole country population was 111.9(male:141.5, female:106.7) per 100,000 populations, higher than not age-adjusted cancer specific death rate(93.8), and the sex difference was statistically significant with male predominance (p<0.05). 4. Cancer specific death rate by age was generally increased with age and most of cancer deaths(male:91.8%, female:88.5%) occurred since 40 years old. 5. The major cancer(cancer specific death rate per 100,000 populations) in male was liver(30.6) followed by stomach(25.6), lung(21.9), and GB and EHBD(5.7), in female stomach(15.7), liver(9.9), lung(7.3), and uterus(6.9). The relative frequency of the leading three cancer among total cancer deaths marked 66.3% in male and 47.l% in female, and decreased in comparison to 1982(male:72.2%, female:54.5%). 6. The total ratio of male to female cancer specific death rate showed 1.68 to 1 with male predominance. And the ratio was above 2.0 in larynx, oral cavity & pharynx, esophagus, liver, lung, bladder cancer and the ratio was $1.0\sim1.9$ in stomach, pancreas, gall bladder and EHBD, brain, rectum and anus cancer, leukemia, but the ratio was reversed in thyroid and colon cancer. In conclusion, cancer was the first cause of deaths. The proportion of lung cancer was increased, that of stomach & uterine cancer was decreased relatively, and liver cancer was constantly higher proportion. In the future, it is necessary to conduct the further investigations on the cancer risk factors considering areal specificity.

• Journal of fish pathology
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• v.26 no.3
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• pp.255-263
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• 2013

The innate immune response is fundamental defense response of vertebrates and invertebrates. Especially, the innate immune response important for larvae that lack of resistance to infectious diseases in the early stages. Galectin is one of the kinds of lectin and presents in the fish mucous that involves innate immune response. Galectin have been studied from various fishing species, but expression analysis of galectin is still unclear during early developmental stage in olive flounder. In this study, we investigated gene expression of galectin-1 from various developmental stage and tissues. We excised several tissues including the muscle, fin, eye, gill, brain, stomach, intestine, kidney, spleen and liver from adult olive flounder and confirmed gene expression of galectin-1 using RT-PCR and quantitative real-time PCR. Expression of galectin-1 was significantly higher in muscle, stomach and intestinal tissue than other tissue in adult fish (5 and 29 months). Also, galectin-1 gene was detected from 0 DAH and gradually increased to 35 DAH and since then decreased after stomach development period. Induction of galectin-1 during the early developmental stage suggest that muscle, fin and eye tissue is formed and begins the secretion of galectin this period. In addition, increased expression levels at 35 DAH suggest that due to complete formation of stomach and intestine, increase of secretion and activation of enzyme. This study shows that expression of galectin-1 during early developmental stages and adult period in olive flounder and can be expect that galectin-1 play essental role in the innate immune system throughout the whole life time. Galectin-1 is primary barrier such as skin and digestive tissue against pathogen infection, also digestive tract developmental period is important for pathogen invasion can be expected that it will serve. Mass mortality due to the disease in seed production is continuing damage, therefore these result will be meaningful about infectious disease during early developmental stages as a basic data for the study.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.17 no.10
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• pp.591-599
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• 2016

Among the employer-supported subscribers to the National Health Insurance Service, 6,797 people with mild disabilities with western ages of 20 and up and who received health checkups were investigated. Of these 6,797 people, 3,186 and 3,611 received health checkups in 2009 and 2013, respectively. Those people who were diagnosed with physical handicaps, brain lesions, visual impairment, hearing impairment, intellectual disabilities, mental disorders, kidney disorders or other disorders according to the classification standard for people with disabilities were classified into disability groups of the 3rd through 6th degrees. The purpose of this study was to examine the dangerous influence of obesity of people with mild disabilities on their hyperglycemia, hypertension and high cholesterol. The items measured in this study were abdominal obesity, body mass index, fasting glucose, total cholesterol, systolic blood pressure and diastolic blood pressure. To look for connections between the obesity level and at-risk groups for each disease, cross tabulation and multinomial logistic regression analyses were utilized. Higher levels of abdominal obesity and BMI were found among those who were male, were younger and had higher incomes. The risks of abdominal obesity and BMI were higher in the abnormal groups for each disease. In 2009, the obesity group whose BMI was higher had a 1.51-fold higher risk of hypertension than the normal group. The abdominal obesity group had a 1.59-fold higher risk of high cholesterol, a 1.26-fold higher risk of hypertension and a 1.54-fold higher risk of hyperglycemia than the normal group. In 2013, the obesity group whose BMI was higher had a 1.72-fold higher risk of high cholesterol and a 1.43-fold higher risk of hypertension than the normal group. Those with abdominal obesity had a 1.59-fold higher risk of hyperglycemia than the normal subjects. As the risk of obesity was higher in those with disabilities than in those without disabilities, the former should be encouraged to undergo health checkups on a regular basis, and the coverage of the health checkups should be extended to keep track of their illness. In addition, appropriate education and concern are both required to prevent obesity.

• Journal of Life Science
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• v.29 no.10
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• pp.1096-1103
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• 2019

Neuroinflammation is mediated by the activation of microglia and has been implicated in the pathogenesis of neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. Therefore, the inhibition of neuroinflammation may be an effective solution to treat these brain disorders. Protaetia brevitarsis seulensis is an insect belonging to the order Coleoptera and inhabits Korea, China, Japan and Siberia. P. brevitarsis seulensis is an edible insect that can be consumed as a protein source for humans. It has been reported that P. brevitarsis seulensis contains useful bioactive substances for hepatoprotection and improving blood circulation, such as indole alkaloids. Microglia cells are the main source of proinflammatory cytokines and nitric oxide (NO) in the central nervous system, which Perform neuroimmune, inflammatory, and other neurobilogical functions. In this study, we investigated the anti-neuroinflammatory effects of P. brevitarsis seulensis ethanol extract (PBE) in activated microglia cells treated with lipopolysaccgarude (LPS, 100 ng/ml). As a result, PBE significantly inhibited NO production without cytotoxicity and decreased the expression levels of inducible NO synthase and cyclooxygenase-2. In addition, the production of inflammatory cytokine secreted by LPS was also reduced by PBE. These results suggest that PBE could be a good source of functional substances to prevent neuroinflammation and neurodegenerative diseases.

• Korean Journal of Food Science and Technology
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• v.51 no.2
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• pp.160-168
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• 2019

This study aimed to determine whether double-processed ginseng berry extract (PGBC) could improve learning and memory in an $A\hat{a}42$-induced Alzheimer's mouse model. Passive avoidance test (PAT) and Morris water-maze test (MWMT) were performed after mice were treated with PGBC, followed by acetylcholine (ACh) measurement and glial fibrillary acidic protein (GFAP) detection for brain damage. Furthermore, acetylcholinesterase (AChE) activity and choline acetyltransferase (ChAT) expression were analyzed using Ellman's and qPCR assays, respectively. Results demonstrated that PGBC contained a high amount of ginsenosides (Re, Rd, and Rg3), which are responsible for the clearance of $A{\hat{a}} 42$. They also helped to significantly improve PAT and MWMT performance in the $A{\hat{a}} 42-induced$ Alzheimer's mouse model when compared to the normal group. Interestingly, ACh and ChAT were remarkably upregulated and AChE activities were significantly inhibited, suggesting PGBC to be a palliative adjuvant for treating Alzheimer's disease. Altogether, PGBC was found to play a positive role in improving cognitive abilities. Thus, it could be a new alternative solution for alleviating Alzheimer's disease symptoms.

• Nuclear Medicine and Molecular Imaging
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• v.43 no.1
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• pp.10-18
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• 2009

Purpose: We investigated quantification of dopaminergic transporter (DAT) and serotonergic transporter (SERT) on $^{123}I$-FP-CIT SPECT for differentiating between multiple systemic atrophy (MSA) and idiopathic Parkinson's disease (IPD). Materials and Methods: N-fluoropropyl-$2{\beta}$-carbomethoxy-$3{\beta}$-4-[$^{123}I$]-iodophenylnortropane SPECT ($^{123}I$-FP-CIT SPECT) was performed in 8 patients with MSA (mean age: $64.0{\pm}4.5yrs$, m:f=6:2), 13 with early IPD (mean age: $65.5{\pm}5.3yrs$, m:f=9:4), and 12 healthy controls (mean age: $63.3{\pm}5.7yrs$, m:f=8:4). Standard regions of interests (ROls) of striatum to evaluate DAT, and hypothalamus and midbrain for SERT were drawn on standard template images and applied to each image taken 4 hours after radiotracer injection. Striatal specific binding for DAT and hypothalamic and midbrain specific binding for SERT were calculated using region/reference ratio based on the transient equilibrium method. Group differences were tested using ANOVA with the postHoc analysis. Results: DAT in the whole striatum and striatal subregions were significantly decreased in both patient groups with MSA and early IPD, compared with healthy control (p<0.05 in all). In early IPD, a significant increase in the uptake ratio in anterior and posterior putamen and a trend of increase in caudate to putamen ratio was observed. In MSA, the decrease of DAT was accompanied with no difference in the striatal uptake pattern compared with healthy controls. Regarding the brain regions where $^{123}I$-FP-CIT binding was predominant by SERT, MSA patients showed a decrease in the binding of $^{123}I$-FP-CIT in the pons compared with controls as well as early IPD patients (MSA: $0.22{\pm}0.1$ healthy controls: $0.33{\pm}0.19$, IPD: $0.29{\pm}0.19$), however, it did not reach the statistical significance. Conclusion: In this study, the differential patterns in the reduction of DAT in the striatum and the reduction of pontine $^{123}I$-FP-CIT binding predominant by SERT could be observed in MSA patients on $^{123}I$-FP-CIT SPECT. We suggest that the quantification of SERT as well as DAT using $^{123}I$-FP-CIT SPECT is helpful to differentiate parkinsonian disorders in early stage.

• Journal of the Korean Society of Radiology
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• v.5 no.4
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• pp.189-194
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• 2011

This study used magnetic resonance diffusion tensor imaging (DTI) to quantitatively analyze the neural fiber tractography according to the age of normal corpus callosum and to evaluate of usefulness. The research was intended for the applicants of 60 persons that was in a good state of health with not brain or other disease. The test parameters were TR: 6650 ms, TE: 66 ms, FA: $90^{\circ}$, NEX: 2, thickness: 2 mm, no gap, FOV: 220 mm, b-value: $800s/mm^2$, sense factor: 2, acquisition matrix size: $2{\times}2{\times}2mm^3$, and the test time was 3 minutes 46 seconds. The evaluation method was constructed the color-cored FA map include to the skull vertex from the skull base in scan range. We set up the five ROI of corpus callosum of genu, anterior-mid body, posterior-mid body, isthmus, and splenium, tracking, respectively, and to quantitatively measured the length of neural fiber. As a result, the length of neural fiber, for the corpus callosum of genu was 20's: $61.8{\pm}6.8$, 30's: $63.9{\pm}3.8$, 40's: $65.5{\pm}6.4$, 50's: $57.8{\pm}6.0$, 60's: $58.9{\pm}4.5$, more than 70's: $54.1{\pm}8.1mm$, for the anterior-mid body was 20's: $54.8{\pm}8.8$, 30's: $58.5{\pm}7.9$, 40's: $54.8{\pm}7.8$, 50's: $56.1{\pm}10.2$, 60's: $48.5{\pm}6.2$, more than 70's: $48.6{\pm}8.3mm$, for the posterior-mid body was 20's: $72.7{\pm}9.1$, 30's: $61.6{\pm}9.1$, 40's: $60.9{\pm}10.5$, 50's: $61.4{\pm}11.7$, 60's: $54.9{\pm}10.0$, more than 70's: $53.1{\pm}10.5mm$, for the isthmus was 20's: $71.5{\pm}17.4$, 30's: $74.1{\pm}14.9$, 40's: $73.6{\pm}14.2$, 50's: $66.3{\pm}12.9$, 60's: $56.5{\pm}11.2$, more than 70's: $56.8{\pm}11.3mm$, and for the splenium was 20's: $82.6{\pm}6.8$, 30's: $86.9{\pm}6.4$, 40's: $83.1{\pm}7.1$, 50's: $81.5{\pm}7.4$, 60's: $78.6{\pm}6.0$, more than 70's: $80.55{\pm}8.6mm$. The length of neural fiber for normal corpus callosum were statistically significant in the genu(P=0.001), posterior-mid body(P=0.009), and istumus(P=0.012) of corpus callosum. In order of age, the length of neural fiber increased from 30s to 40s, as one grows older tended to decrease. For this reason, the nerve cells of brain could be confirmed through the neural fiber tractography to progress actively in middle age.