• Parasites, Hosts and Diseases
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• v.49 no.1
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• pp.1-8
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• 2011

The pathogenesis and pathophysiology of Acanthamoeba infections remain incompletely understood. Phospholipases are known to cleave phospholipids, suggesting their possible involvement in the host cell plasma membrane disruption leading to host cell penetration and lysis. The aims of the present study were to determine phospholipase activities in Acanthamoeba and to determine their roles in the pathogenesis of Acanthamoeba. Using an encephalitis isolate (T1 genotype), a keratitis isolate (T4 genotype), and an environmental isolate (T7 genotype), we demonstrated that Acanthamoeba exhibited phospholipase $A_2$ (PLA$_2$). and phospholipase D (PLD) activities in a spectrophotometry-based assay. Interestingly, the encephalitis isolates of Acanthamoeba exhibited higher phospholipase activities as compared with the keratitis isolates, but the environmental isolates exhibited the highest phospholipase activities. Moreover, Acanthamoeba isolates exhibited higher PLD activities compared with the PLA$_2$. Acanthamoeba exhibited optimal phospholipase activities at $37^{\circ}C$ and at neutral pH indicating their physiological relevance. The functional role of phospholipases was determined by in vitro assays using human brain microvascular endothelial cells (HBMEC), which constitute the blood-brain barrier. We observed that a PLD-specific inhibitor, i.e., compound 48/80, partially inhibited Acanthamoeba encephalitis isolate cytotoxicity of the host cells, while PLA$_2$-specific inhibitor, i.e., cytidine 5'-diphosphocholine, had no effect on parasite-mediated HBMEC cytotoxicity. Overall, the T7 exhibited higher phospholipase activities as compared to the T4. In contract, the T7 exhibited minimal binding to, or cytotoxicity of, HBMEC.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.3
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• pp.189-230
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• 2020

The metabolic syndrome, by definition, is not a disease but is a clustering of individual metabolic risk factors including abdominal obesity, hyperglycemia, hypertriglyceridemia, hypertension, and low high-density lipoprotein cholesterol levels. These risk factors could dramatically increase the prevalence of type 2 diabetes and cardiovascular disease. The reported prevalence of the metabolic syndrome varies, greatly depending on the definition used, gender, age, socioeconomic status, and the ethnic background of study cohorts. Clinical and epidemiological studies have clearly demonstrated that the metabolic syndrome starts with central obesity. Because the prevalence of obesity has doubly increased worldwide over the past 30 years, the prevalence of the metabolic syndrome has markedly boosted in parallel. Therefore, obesity has been recognized as the leading cause for the metabolic syndrome since it is strongly associated with all metabolic risk factors. High prevalence of the metabolic syndrome is not unique to the USA and Europe and it is also increasing in most Asian countries. Insulin resistance has elucidated most, if not all, of the pathophysiology of the metabolic syndrome because it contributes to hyperglycemia. Furthermore, a major contributor to the development of insulin resistance is an overabundance of circulating fatty acids. Plasma fatty acids are derived mainly from the triglycerides stored in adipose tissues, which are released through the action of the cyclic AMP-dependent enzyme, hormone sensitive lipase. This review summarizes the latest concepts in the definition, pathogenesis, pathophysiology, and diagnosis of the metabolic syndrome, as well as its preventive measures and therapeutic strategies in children and adolescents.

• Journal of the Korean Vacuum Society
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• v.6 no.1
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• pp.85-90
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• 1997

A new ionized sputtering process was developed to fill small trench or via using additional ionizing mechanism of sputtered particles from 32cm $AlCu_x$(x=0.5%) cathode target with rotating magnet, then drawn toward substrate by small negative DC potential. The radial uniformity in RFI magnetron sputtering was studied by plasma diagnosis and appropriate RFI coil design to improve it. Optical emission intensities of excited species. $Ar^{\circ}, \;Ar^+;Al^+, \;Al^{\circ}$ are measured across the radial direction and showed close correlation with deposit's bottom to top thickness ratios in trenches and vias of submicron opening and 1.5 aspect ratio. After increase of the diameter of RF coil from 29 cm to 32 cm and improved the power leading feedthrough symmetry by removal of asymmetric single turn region, there was an increase of uniformity from 7.5% to 1.5% in bottom to top thickness ratio in 0.6 $\mu\textrm{m}$ vias.

• Journal of Veterinary Clinics
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• v.27 no.4
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• pp.445-449
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• 2010

A dog with a history of long-term phenobarbital administration presented to Seoul National University Hospital for Animals with clinical signs of footpad ulceration and facial ulcerative dermatitis. Skin lesions (facial/footpad dermatitis), histopathologic signs (parakeratotic hyperkeratosis, edema and hyperplasia of the epidermis), and liver involvement (increased plasma liver enzymes and nodular lesions) suggested a diagnosis of superficial necrolytic dermatitis (SND). The patient died suddenly at home of unknown cause after 8 months medical treatment, but intravenous amino acid supplementation and supportive hepatic medication proved as effective for the skin conditions.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.99-103
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• 2012

Tyrosinemia type I is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation. Clinical symptoms include progressive liver damage with liver failure, coagulopathy, hypophosphataemic rickets, renal tubular dysfunction and a high risk of hepatocellular carcinoma. If left untreated, the affected infants may die from liver failure within the first year of life. PharmacoloIcal therapy with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) has offered an effective therapeutic option in addition to dietary restriction of tyrosine and phenylalanine. As prognosis of tyrosinemia type I is improving with early diagnosis and early treatments, it meets the criteria for a condition that would benefit from newborn screening. We report a case of tyrosinemia type I diagnosed by newborn screening and successive biochemical analysis of plasma and urine, treated by dietary restriction and NTBC.

• Clinical and Experimental Pediatrics
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• v.55 no.8
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• pp.301-305
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• 2012

Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the scarcity and poor prognosis of this disease. In the current study, we present a patient with NKH diagnosed on the basis of clinical features, biochemical profiles, and genetic analysis. Magnetic resonance spectroscopy (MRS) allowed the measurement of absolute glycine concentrations in different parts of the brain that showed a significantly increased glycine peak, consolidating the diagnosis of NKH. In additional, serial MRS follow-up showed changes in the glycine/creatinine ratios in different parts of the brain. In conclusion, MRS is an effective, noninvasive diagnostic tool for NKH that can be used to distinguish this disease from other glycine metabolism disorders. It may also be useful for monitoring NKH treatment.

• Tuberculosis and Respiratory Diseases
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• v.43 no.3
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• pp.461-466
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• 1996

Diffuse alveolar hemorrhage is a very rare manifestation in Henoch-Schoenlein purpura. Recently we experience a case of diffuse alveolar hemorrhage associated with Henoch-Schoenlein purpura which was diagnosed by typical clinical manifestation and renal biopsy. A 25 year old male was admitted due to hemoptysis and dyspnea. Chest X-ray, HRCT and BAL revealed diffuse alveolar hemorrhage. He also had a history of skin rash, polyarthralgia, and hematochezia with abdominal pain. Renal biopsy which was taken for the evaluation of microscopic hematuria showed IgA nephropathy. Under the diagnosis of Henoch-Schoenlein purpura, we treated him with solumedrol pulse therapy, plasma-pheresis and prednisolone with cytoxan. After then he showed marked improvement in clinical manifestation and was discharged with prednisolone and cytoxan.

• Tuberculosis and Respiratory Diseases
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• v.40 no.6
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• pp.709-713
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• 1993

Inflammatory pseudotumor, also known as plasma cell granuloma, is a rare, benign tumor that affects at all ages and frequently involves the lung, gastrointestinal tract, and salivary gland. They are the most common, isolated, primary lesion of the lung in children less than 16 years of age, and usually present as circumscribed, peripheral, parenchymal tumors, which may be static or increase slowly in size without causing symptoms. Surgical excision is the treatment of choice bacause of the location and benign nature of this lesion. The prognosis after resection is excellent. Adjuvant therapeutic modalities include radiation and steroid therapy. Recently, we experienced a case of inflammatory pseudotumor of the lung, the diagnosis of which was made by percutaneous fine needle aspiration cytology examination. We tried steroid and the lesions of the lung was completely resolved. We report this case with a review of literatures.

• Korean Journal of Clinical Laboratory Science
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• v.41 no.4
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• pp.173-179
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• 2009

The analysis of serum free light chains (sFLCs) can improve the diagnosis and monitoring of multiple myeloma and other plasma cell dyscrasias. As with other immunoassays, sFLCstests are subject to potential antigen excess and heterophilic antibody interference. We describe 9 cases of sFLCs antigen excess in patients with multiple myeloma using the FreeliteTM Human Kappa and Lambda Free Kits (The Binding Site ltd., Birmingham, UK) and the Hitachi7600 P module turbidimetric system. A total of 1,247 consecutive samples from 250 patients with multiple myeloma were assayed for sFLCs from April to September, 2009. The samples were assayed using an initial dilution of 1 :5and subsequent dilutions of 1 :50 and 1: 100. The same samples were analyzed for the presence of monoclonal gammopathies using serum protein electrophoresis (SPE) and immunofixation electrophoresis (IFE). There were 9 samples (0.72%) of antigen excess with 3 cases of kappa (0.24%) and 6 cases of lambda (0.48%). These cases represents an example of antigen excess or "hook effect" using the serum free light chain assays and mandates high level of attention to falsely low sFLC levels due to antigen excess, especially when it is disaccordant to other assay results or clinical manifestations.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.104-110
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• 2013

Purpose: Phenylketonuria (PKU) is the first inherited metabolic disease of which treatment is known. We performed this study to find out clinical symptoms and prognosis of tetrahydrobiopterin (BH4) responsive PKU patients and genetic relation. Methods: Clinical, biochemical, genetic analysis were done retrospectively in 23 patients diagnosed BH4 responsive PKU in Soonchunhyang University Hospital from March 2000 to September 2012. Results: Patients were classified to mild hyperphenylalaninemia and mild phenylketonuria with initial plasma phenylalanine level below 20 mg/dL. After BH4 loading, blood phenylalanine decrease level ranged between 37% and 99%. Initial treatment with low phenylalanine formula or BH4 was started before 2 month after birth except 2 patients. And one of them resulted in developmental delay in language and social activity. The others showed satisfactory progress without developmental delay. In genetic analysis, of 46 allele, R241C allele mutation was identified most commonly (41%). R241C/A259T, R241C/R243Q, R241C/V388M, R241C/T278I was detected in 5 (21.7%), 3 (13%), 2 (8%), 2 (8%) patients, respectively. Conclusion: R241C mutation was detected most frequently in this study group and R243Q mutation which is known to be prevalent in Korean PKU patients was found in 4 patients (8.6%). Early diagnosis and treatment is important in PKU patients.