• Clinical and Experimental Pediatrics
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• v.45 no.4
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• pp.524-528
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• 2002

Citrullinemia is a rare inborn error of metabolism of the urea cycle, and was first reported by McMurray, et al. in 1962. It is inherited as an autosomal recessive trait. The normal synthesis of argininosuccinic acid is blocked in this disease due to a deficiency of argininosuccinic acid synthetase(AS), which has been demonstrated in liver cells and fibroblasts. The clinical symptoms are vomiting, lethargy or irritability, convulsion and mental retardation. The diagnosis is made by the finding of an increased plasma citrulline level. Every effort should be made to reduce the blood ammonia level as rapidly as possible before irreversible brain damage occurs. This report describes a case of citrullinemia that was diagnosed through organic acid analysis and amino acid analysis, and reviews the related literatures.

• Journal of Korean Neurosurgical Society
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• v.61 no.5
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• pp.548-558
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• 2018

Objective : Diagnosing acute cerebral infarction is crucial in determining prognosis of stroke patients. Although many serologic tests for prompt diagnosis are available, the clinical application of serologic tests is currently limited. We investigated whether $S100{\beta}$, matrix metalloproteinase-9 (MMP-9), D-dimer, and heat shock protein 70 (HSP70) can be used as biomarkers for acute cerebral infarction. Methods : Focal cerebral ischemia was induced using the modified intraluminal filament technique. Mice were randomly assigned to 30-minute occlusion (n=10), 60-minute occlusion (n=10), or sham (n=5) groups. Four hours later, neurological deficits were evaluated and blood samples were obtained. Infarction volumes were calculated and plasma $S100{\beta}$, MMP-9, D-dimer, and HSP70 levels were measured using enzyme-linked immunosorbent assay. Results : The average infarction volume was $12.32{\pm}2.31mm^3$ and $46.9{\pm}7.43mm^3$ in the 30- and 60-minute groups, respectively. The mean neurological score in the two ischemic groups was $1.6{\pm}0.55$ and $3.2{\pm}0.70$, respectively. $S100{\beta}$, MMP-9, and HSP70 expressions significantly increased after 4 hours of ischemia (p=0.001). Furthermore, $S100{\beta}$ and MMP-9 expressions correlated with infarction volumes (p<0.001) and neurological deficits (p<0.001). There was no significant difference in D-dimer expression between groups (p=0.843). The area under the receiver operating characteristic curve (AUC) showed high sensitivity and specificity for MMP-9, HSP70 (AUC=1), and $S100{\beta}$ (AUC=0.98). Conclusion : $S100{\beta}$, MMP-9, and HSP70 can complement current diagnostic tools to assess cerebral infarction, suggesting their use as potential biomarkers for acute cerebral infarction.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.18
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• pp.8299-8305
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• 2016

Background: In Egypt, breast cancer is estimated to be the most common cancer among females. It is also a leading cause of cancer-related mortality. Use of circulating cell-free DNA (ccf-DNA) as non-invasive biomarkers is a promising tool for diagnosis and follow-up of breast cancer (BC) patients. Objective: To assess the role of circulating cell free DNA (nuclear and mitochondrial) in diagnosing BC. Materials and Methods: Multiplex real time PCR was used to detect the level of ccf nuclear and mitochondrial DNA in the peripheral blood of 50 breast cancer patients together with 30 patients with benign lesions and 20 healthy controls. Laboratory investigations, histopathological staging and receptor studies were carried out for the cancer group. Receiver operating characteristic curves were used to evaluate the performance of ccf-nDNA and mtDNA. Results: The levels of both nDNA and mtDNA in the cancer group were significantly higher in comparison to the benign and the healthy control group. There was a statistically significant association between nDNA and mtDNA levels and well established prognostic parameters; namely, histological grade, tumour stage, lymph node status andhormonal receptor status. Conclusions: Our data suggests that nuclear and mitochondrial ccf-DNA may be used as non-invasive biomarkers in BC.

• Tuberculosis and Respiratory Diseases
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• v.78 no.3
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• pp.262-266
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• 2015

Plasmacytomas are extramedullary accumulations of plasma cells originating from soft tissue. Mediastinal plasmacytoma is a rare presentation. A 67-year-old man recovered after antibiotic treatment for community-acquired pneumonia. However, on convalescent chest radiography after 3 months, mass like lesion at the right lower lung field was newly detected. Follow-up chest computed tomography (CT) revealed an increase in the extent of the right posterior mediastinal mass that we had considered to be pneumonic consolidations on previous CT scans. Through percutaneous needle biopsy, we diagnosed IgG kappa type extramedullary plasmacytoma of the posterior mediastinum.

• Journal of Periodontal and Implant Science
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• v.44 no.5
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• pp.227-234
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• 2014

Purpose: Dentin hypersensitivity is a potential threat to oral health. Laser irradiation may provide reliable and reproducible treatment but remains controversial. The present study aimed to evaluate the effects of $CO_2$ or erbium-doped yttrium aluminium garnet (Er:YAG) laser therapy, and to assess mineral content. Methods: Eighteen human single-rooted teeth affected with advanced periodontitis were obtained. Buccal and lingual surfaces were planed to form 36 specimens. Ethylenediaminetetraacetic acid gel (24%) was applied to remove the smear layer and simulate hypersensitive teeth. The experimental groups were: group 1, control (no irradiation); group 2, $CO_2$ laser (repetitive pulsed mode, 2 W, $2.7J/cm^2$); and group 3, Er:YAG laser (slight contact mode, 40 mJ/pulse and 10 Hz). To evaluate dentinal tubule occlusion, six specimens per group (2-mm thickness) were prepared and observed using scanning electron microscopy (SEM) for calculation of the occlusion percentage. To evaluate the mineral content, six specimens per group (0.6-mm thickness) were used, and then the levels of Ca, K, Mg, Na, and P were measured by inductively coupled plasma-atomic emission spectrometry. In addition, the surface temperature of the specimens during laser irradiation was analyzed by a thermograph. Results: The SEM photomicrographs indicated melted areas around exposed dentinal tubules and a significantly greater percentage of tubular occlusion in the $CO_2$ and Er:YAG laser groups than the control, and in the Er:YAG group than the $CO_2$ laser group. In addition, no significant differences were noted among the experimental groups for the mineral elements analyzed. The $CO_2$ laser group showed an evident thermal effect compared to the Er:YAG group. Conclusions: $CO_2$ and Er:YAG laser are effective in treating dentin hypersensitivity and reducing its symptoms. However, the Er:YAG laser has a more significant effect; thus, it may constitute a useful conditioning item. Furthermore, neither $CO_2$ nor Er:YAG lasers affected the compositional structure of the mineral content.

• Neonatal Medicine
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• v.17 no.2
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• pp.250-253
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• 2010

Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.

• Journal of Yeungnam Medical Science
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• v.15 no.2
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• pp.371-380
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• 1998

Systemic lupus erythematosus(SLE) is an autoimmune disease which may affect many different organs and disclose various clinical manifestations. Recently central nervous system(CNS) involvement has been recognized as an increasingly significant contributor to morbidity and mortality of SLE. The clinical manifestations of CNS-lupus are highly variable and range from mild cognitive dysfunction, movement disorder, headache, psychosis to life-threatening stroke and coma. Among the neuropsychiatric disorders encountered in patients with SLE, cerebrovascular disease has been a relatively rare complication. The diagnosis and management of CNS-lupus is difficult because of the lack of useful diagnostic methods. If cerebrovascular involvement is suspected, aggressive treatment such as high dose steroid, immunosuppressive therapy, plasma exchange may be required to reduce high mortality rate. We experienced 2 cases cerebrovascular dis eases occurring in SLE patients which presented with various neuropsychiatric manifestations. They were diagnosed as CNS-lupus by neuropsychiatric symptoms, brain MRI, and BEG, and showed good response to high dose steroid pulse therapy.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.12
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• pp.6501-6504
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• 2012

Background: Multiple myeloma is the most common malignant plasma cell dyscrasia and ranks second among primary haematological malignancies. This study describes the epidemiologic, clinical and pathologic profile of monoclonal gammopathies seen in the University Hospital of the West Indies (UHWI), a tertiary care referral centre. Materials and Method: A retrospective analysis of 85 cases diagnosed at UHWI over the 5-year period 2003-2007 was conducted. The cases were identified from the bone marrow records as well as the computerized database of the Medical Records Department. Clinical presentation, family and personal history and demographic data were retrieved. Haematological and biochemical results were also analyzed. Results: There were 85 patients diagnosed with monoclonal gammopathies. The M:F ratio was 1.2:1 and the mean age was $65.7{\pm}1.3$ years. Eighty percent of the patients had skeletal pain and 40% experienced weight loss. Of the patients experiencing bone pain 56.7% had multiple lytic lesions, 26.7% had pathological fractures and 26.7% had compression fractures. Seventy-four patients (87.1%) had a haemoglobin level <12.0 g/dL with 52.9% having values <8.0 g/dL. Renal impairment was evident at diagnosis in 36.5%. Hypercalcemia was seen in 26.5% and hyperuricemia in 45.9%. Of the 79 patients who had serum protein electrophoresis performed, 77.2% had at least one monoclonal band and of these 24.6% had a monoclonal protein also present on urine protein electrophoresis. Conclusions: The demographic profile in this group of patients is largely similar to other studies in predominantly Caucasian populations; however there was a notable increase in prevalence of severe disease at presentation, with the majority of patients presenting at the most advanced stage. It is probable that these differences reflect socioeconomic factors and not merely inherent ethnic variation in disease biology.

• Korean Journal of Head & Neck Oncology
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• v.23 no.2
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• pp.133-137
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• 2007

With the wide use of ultrasonography and fine needle aspiration of the thyroid gland, the incidence of papillary microcarcinoma of the thyroid gland is rapidly increasing nowadays. To improve the diagnostic accuracy of histopathologic findings of papillary thyroid carcinoma, various molecular markers have been used recently. We analysed the expression of galectin-3, cytokeratin 19 and HBME-1, using immunohistochemical technique in 37 cases of papillary microcarcinoma of the thyroid gland to evaluate the diagnostic value of these molecular markers. Immunohistochemically, galectin-3 expression was found in 37 cases of papillary microcarcinoma. Its localization was mostly cytoplasmic. Cytokeratin 19 expression was found in 36 cases. It was mostly localized to the cytoplasm and membrane. HBME-1 expression was found in all cases. Its localization was plasma membrane. The expression of these three molecular markers was negative in the adjacent normal thyroid tissue and accompanying benign lesions, although there are scattered foci of incomplete positive staining in cases of Hashimoto's thyroiditis. Our findings suggest that the immunohistochemical staining using antibodies for galectin-3, cytokeratin 19 and HBME-1 is an useful adjunctive method for the histopathological diagnosis of a papillary microcarcinoma of the thyroid gland.

• Journal of Radiation Protection and Research
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• v.36 no.1
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• pp.35-43
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• 2011

The PHENIX Experiment is the largest of the four experiments that have taken data at the Relativistic Heavy Ion Collider. PHENIX, the Pioneering High Energy Nuclear Interaction eXperiment, is designed specifically to measure direct probes of the collisions such as electrons, muons, and photons. The primary goal of PHENIX is to discover and study a new state of matter called the Quark-Gluon Plasma. Among many particles, muons coming from W-boson decay gives us key information to analyze the spin of proton. Resistive plate chambers are proposed as a suitable solution as a muon trigger because of their fast response and good time resolution, flexibility in signal readout, robustness and the relatively low cost of production. The RPC detectors for upgrade were assembled and their performances were evaluated. The procedure to make the detectors better was optimized and described in detail in this thesis. The code based on ROOT was written and by using this the performance of the detectors made was evaluated, and all of the modules for north muon arm met the criteria and installation at PHENIX completed in November 2009. As RPC detectors that we made showed fast response, capacity of covering wide area with a resonable price and good spatial resolution, this will give the opportunity for applications, such as diagnosis and customs inspection system.