• Journal of Genetic Medicine
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• v.10 no.2
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• pp.88-93
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• 2013

Alexander disease (ALXD) is a rare demyelinating disease of the white matter of the brain that is caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. The overexpression of GFAP in astrocytes induces a failure in the developmental growth of the myelin sheath. The neurodegenerative destruction of the myelin sheath of the white matter is accompanied by an accumulation of abnormal deposits of Rosenthal fibers in astrocytes, which is the hallmark of ALXD. The disease can be divided into four groups based on the onset age of the patients: neonatal, infantile, juvenile, or adult. Early-onset disease is more severe, progresses rapidly, and results in a shorter life span than late-onset cases. Magnetic resonance imaging and genetic tests are mostly used for diagnostic purposes. Pathological tests of brain tissue for Rosenthal fibers are definitive diagnostic methods. Therapeutic strategies are being investigated. Ceftriaxone, which is an enhancer of glial glutamate transporter (GLT-1) expression, is currently in clinical trials for the treatment of patients with ALXD. To date, there are no clinically available treatments. The cause, pathology, pathophysiology, inheritance, clinical features, diagnosis, and treatment of ALXD will be reviewed comprehensively.

• Tuberculosis and Respiratory Diseases
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• v.78 no.4
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• pp.385-389
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• 2015

Amyloidosis is defined as the presence of extra-cellular deposits of an insoluble fibrillar protein, amyloid. The pulmonary involvement of amyloidosis is usually classified as tracheobronchial, parenchymal nodular, or diffuse alveolar septal. A single nodular lesion can mimic various conditions, including malignancy, pulmonary tuberculosis, and fungal infection. To date, only one case of nodular pulmonary amyloidosis has been reported in Korea, a case involving multiple nodular lesions. Here, we report and discuss the case of a patient having single nodular amyloidosis.

• BMB Reports
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• v.50 no.7
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• pp.345-354
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• 2017

Autophagy, a catabolic process necessary for the maintenance of intracellular homeostasis, has recently been the focus of numerous human diseases and conditions, such as aging, cancer, development, immunity, longevity, and neurodegeneration. However, the continued presence of autophagy is essential for cell survival and dysfunctional autophagy is thought to speed up the progression of neurodegeneration. The actual molecular mechanism behind the progression of dysfunctional autophagy is not yet fully understood. Emerging evidence suggests that basal autophagy is necessary for the removal of misfolded, aggregated proteins and damaged cellular organelles through lysosomal mediated degradation. Physiologically, neurodegenerative disorders are related to the accumulation of amyloid ${\beta}$ peptide and ${\alpha}-synuclein$ protein aggregation, as seen in patients with Alzheimer's disease and Parkinson's disease, respectively. Even though autophagy could impact several facets of human biology and disease, it generally functions as a clearance for toxic proteins in the brain, which contributes novel insight into the pathophysiological understanding of neurodegenerative disorders. In particular, several studies demonstrate that natural compounds or small molecule autophagy enhancer stimuli are essential in the clearance of amyloid ${\beta}$ and ${\alpha}-synuclein$ deposits. Therefore, this review briefly deliberates on the recent implications of autophagy in neurodegenerative disorder control, and emphasizes the opportunities and potential therapeutic application of applied autophagy.

• Journal of Yeungnam Medical Science
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• v.40 no.3
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• pp.289-292
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• 2023

We describe the case of a 79-year-old man who presented with progressive aggravation of severe axial neck pain and fever 3 days after transurethral resection of the prostate (TURP), despite maintaining neutral neck posture during surgery. Laboratory examination revealed markedly elevated C-reactive protein levels and erythrocyte sedimentation rates. Computed tomography revealed crown-like calcifications surrounding the odontoid process. We diagnosed crowned dens syndrome (CDS) as the cause of acute-onset neck pain after TURP. The patient was treated with nonsteroidal anti-inflammatory drugs for 5 days, and his symptoms resolved completely. CDS is a rare disease characterized by calcific deposits around the odontoid process with acute onset of severe neck pain and restricted motion. Evidence of inflammation on serological testing and fever are typical of CDS. However, the prevalence and pathophysiology of CDS remain unclear. We hypothesized that systemic inflammation after prostate surgery may have induced a local inflammatory response involving calcification around the odontoid process.

• Childhood Kidney Diseases
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• v.10 no.2
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• pp.152-161
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• 2006

Purpose : In Korea, the school urine screening program is a useful tool for screening urine abnormalities. It is particularly useful in early detection of membranoproliferative glomerulonephritis(MPGN) I, which frequently progresses to chronic renal failure. In this study, we studied the medical history, laboratory findings, and histologic findings of MPGN to gain helpful information on early detection and treatment. Methods : The subjects were 19 children, who were diagnosed with MPGN from kidney biopsies that were performed in ten nationwide university hospitals because of abnormal urine findings from school urine screening programs conducted from July 1999 to April 2004. We divided the patients into 2 groups, a nephrotic range proteinuria group(n=8) and a non-nephrotic proteinuria group(n=11), and retrospectively analyzed the clinical features, laboratory findings, histologic findings, treatment, and clinical course. Results : The mean age at the first abnormal urinalysis was $10.6{\pm}2.2$ years in the nephrotic proteinuria group and $9.6{\pm}3.2$ years in the non-nephrotic proteinuria group. The mean age at the time of kidney biopsy was $11.3{\pm}2.3$ years in the nephrotic range proteinuria group and $10.4{\pm}3.2$ years in the non-nephrotic proteinuria group respectively. There was no significant difference in the mean age and sex between the two groups. In the nephrotic proteinuria group, 6 children had a low plasma C3 level and in the non-nephrotic proteinuria group, 8 children had a low plasma C3 level, but there was no significant difference between the 2 groups. There was no significant difference in the laboratory test results(including WBC count, RBC count, platelet count and other serologic tests) between the 2 groups except for 24 hour urine protein secretion. There was no difference between the 2 groups with regard to the acute and chronic changes in the glomerulus on light microscopic findings, IgG, IgA, Ig M, C1q, C3, C4, fibrogen deposition on immunofluoroscence findings, and mesangial deposits, subendothelial deposits, and subepithelial deposits on electron microscopic findings. The children were treated with corticosteroids, ACE(angiotensin-converting enzyme) inhibitors, dipyridamole and other immunosuppressive agents. During the course of treatment, there were no children whose clinical condition worsened. Among 19 children, 3 children went into remission(2 in the nephrotic proteinuria group, 1 in the non-nephrotic proteinuria group) and 9 children went into a partial remission(4 in the nephrotic proteinuria group, 5 in the non-nephrotic proteinuria group) on urinalysis. There was no significant difference in the treatment results between the two groups. Conclusion : The 73.7% of children who were incidentally diagnosed with MPGN by the school urine screening program had reduced C3. 42.1% of the children had nephrotic range proteinuria. There were no significant differences in clinical features, laboratory test results, light microscopic, immunofluorescence microscopic, and electron microscopic findings between the nephrotic proteinuria group and the non-nephrotic proteinuria group except for the 24 hour urine protein secretion. Therefore, for early detection of MPGN during the school urine screening program, we strongly recommend a kidney biopsy if children have abnormal urine findings such as persistent proteinuria and persistent hematuria, or if the serum C3 is reduced.

• Applied Microscopy
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• v.30 no.3
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• pp.285-293
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• 2000

The present study has been carried out to investigate the effect of fluoride toxicity on the morphology as well as inorganic chemical constituents of rat teeth. Rats were administered sodium fluoride at dose of 0 ppm, 100 ppm, 200 ppm and 300 ppm at the beginning of pregnancy. Animals were perfused intravascularly with glutaraldehyde and the incisors were removed. Changes in the protein composition of the secretory and maturation enamel were investigated using polyacrylamide gel electrophoresis (SDS PAGE). And the enamel surface of incisors was examined under scanning electron microscope (SEM). Changes of protein quantities were found significantly in high levels fluoride administration for experimental groups compared with control. The SDS PAGE analysis demonstrated as follows In control group, secretory phase enamel protein, amelogenins, was detected more quantities than experimental group. The enamelin, presence in maturation phase enamel , showed more quantifies than control enamel with an increasing fluoride concentration in the drinking water. Also, the scanning electron micrographic data showed hypoplastic, tough, uneven, pitted and cracked enamel surfaces covered with granular deposits as a result of excessive intake of fluoride. From these results we conclude that high dose of fluoride administration leads to severe structural alterations on the enamel surface and these structural changes could be through defective mineralization.

• Journal of the Korean Society of Food Science and Nutrition
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• v.23 no.3
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• pp.530-539
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• 1994

All lipoproteins are made up of three major classes of lipids : triglycerides, cholesterol, and phospholipids. Lipoproteins vary in their relative content of these lipids as well as in size and protein content. Human low density lipoprotein (LDL) is a main carrier for cholesterol in the blood stream, and it is well established that cholesterol deposits in the arteries stem primarily from LDL and that increased levels of plasma LDL correlated with in increased risk of atherosclerosis. Various lines of research provide strong evidence that lDL may become oxidized in vivo and that oxidized-LDL is the species involved in the formation of early atherosclerotic lesions. the most crucial findings in this context are the following : (1) Oxidized -LDL has chemotactic properties and if present in the intimal space of the arteries would recruit blood monocytes which then can develop into tissue macrophages ; (2) marcrophages take up oxidized-LDL unregulated to from lipid laden foam cells ; (3) Oxdized-LDLis highly cytotoxic and could be responsible for damage of the endothelial layer and for the destruction of smooth muscle cells.

• Molecules and Cells
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• v.24 no.1
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• pp.113-118
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• 2007

The brains of Alzheimer's disease (AD) patients are characterized by large deposits of amyloid beta peptide ($A{\beta}$). $A{\beta}$ is known to increase free radical production in nerve cells, leading to cell death that is characterized by lipid peroxidation, free radical formation, protein oxidation, and DNA/RNA oxidation. In this study, we selected an extract of Gardenia jasminoides by screening, and investigated its ameliorating effects on $A{\beta}$-induced oxidative stress using PC12 cells. The effects of the extract were evaluated using the 2',7'-dichlorofluorescein diacetate (DCF-DA) assay and the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) reduction assay. To find the active component, the ethanol extract was partitioned with hexane, chloroform, and ethyl acetate, respectively, and the active component was purified by silica-gel column chromatography and HPLC. The results suggested that Gardenia jasminoides extract can reduce the cytotoxicity of $A{\beta}$ in PC 12 cells, possibly by reducing oxidative stress.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.1
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• pp.11-18
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• 2008

We created a cDNA microarray representing approximately 3,500 pig genes for functional genomic studies. The array elements were selected from 6,494 cDNA clones identified in a large-scale expressed sequence tag (EST) project. These cDNA clones came from normalized and subtracted porcine adipose tissue cDNA libraries. Sequence similarity searches of the 3,426 ESTs represented on the array using BLASTN identified 2,790 (81.4%) as putative human orthologs, with the remainder consisting of "novel" genes or highly divergent orthologs. We used the gene microarray to profile transcripts expressed by adipose tissue of fatty Chinese Xiang pig (XP) and muscley Large White (LW). Microarray analysis of RNA extracted from adipose tissue of fatty XP and muscley LW identified 81 genes that were differently expressed two fold or more. Transcriptional differences of four of these genes, adipocyte fatty acid binding protein (aP2), stearyl-CoA desaturase (SCD), sterol regulatory element binding transcription factor 1 (SREBF1) and lipoprotein lipase (LPL) were confirmed using SYBR Green quantitative RT-PCR technology. Our results showed that high expression of SCD and SREBF1 may be one of the reasons that larger fat deposits are observed in the XP. In addition, our findings also illustrate the potential power of microarrays for understanding the molecular mechanisms of porcine development, disease resistance, nutrition, fertility and production traits.

• Journal of Food Hygiene and Safety
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• v.13 no.2
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• pp.171-187
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• 1998

Garlic occupies a special position among the many foods of vegetable origin because it is the sole food for Koreans during the their lives. And vitamin A has been ingested by forms of food or additives. Cadmium has been described as one of the most dangerous trace elements in the food and environment of man and livestocks. Since the de novo synthesis of stress proteins can be detected early after exposure to some agents, analysis of cadmium-induced changes in gene expression , ie. alterations in patterns of protein synthesis, may be useful to develop as biomarkers of exposure and damage for food hygiene. He acute and chronic combine effects of cadmium (Cd, CdCl2 20mg/kg), garlic oil(Dds: diallyl disulfide 50mg/kg, 3 times a week) and vitamin A(Ra: retinol acetate 50,000 IU/kg, 3 times a week) on Wistar male rats were evaluated concerning cadmium contents, tissues enzyme activity, HSP expression histopathological and electron microscopical examinations. The results of the study are as follows ; 1. Less cadmium was absorbed through the digestive tracts, but the ratio of contents in tissue were not changed by the simultaneous adminstration of diallyl disufide or retinol acetate. 2. ALT(alanine aminotransferase) , AST(aspartate aminotransferase), glucose, BUN (blood urea nitrogen), creatinine, the key indices of the clinical changes in hepatic and renal function were significantly hanged by the cadmium treatment after 1 week in liver, after 4 weeks in kidney. 3. Histopathological changes in cadmium treated rats were appeared at 8 weeks age treatment in kidneys. Homogenous eosinophilic material was accumulated in cortical and collecting tubular lumens at 16 weeks. Degenerated or necrotized tubular cells were observed in cortex and medulla. Degenerated seminiferous tubules and homogeneous eosinophilic material was seen in interstitial tissue of rat treated with cadmium for 16 weeks. Calcium deposits were seen in degenerated seminiferous tubules and the tubules showed severe calcification of rat treated with cadmium for 16 weeks. Electron microscope changes in kidney were observed in rats treated with CdCl2 20 mg/kg. Proximal convoluted tubule cells showed selling of cytoplasm and narrow lumen. Capillary endothelial cells showed cytoplasmic vacuoles and swelling. Degenerated epithelial cells were accumulated in tubular lumen of kidney. 4. Enhanced synthesis of 70 KDa relateve molecular mass proteins were detected in 2 hours after cadmium, exposure, with maximum activity occurring at 8~48 hours. Induction of HSP 70 was evident at proximal tubules and glomeruli in kidney. Testicular cells produced enough HSP to be detected normally. From the above results, it could be concluded that HSP70 induction by the cadmium treatment was a rapid reaction to indicated the exposure of xenobiotics, and retinol acetate reduced the cadmium induced nephrotoxicity.