• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.49-53
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• 2012

X-linked adrenoleukodystrophy (ALD) is a rare inherited metabolic disease which results in impaired peroxisomal ${\beta}$-oxidation and the accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex, the myelin of the central nervous system, and the testes. X-linked ALD is caused by mutations in the ABCD1 gene encoding an ATP-binding cassette transporter superfamily located in the peroxisomal membrane. This disease is characterized by a variety of phenotypes. The classic childhood cerebral ALD is a rapidly progressive demyelinating condition affecting the cerebral white matter before the age of 10 years in boys. We report the case of a 8-year-old with childhood cerebral X-linked ALD who developed inattention, hyperactivity, motor incoordination and hemiparesis. We diagnosed ALD with elevated plasma very long chain fatty acid level and diffuse high signal intensity lesions in both parieto-occipital white matter and cerebellar white matter in brain MRI. We identified a novel c.983delT (p.Met329CysfsX7) mutation of the ABCD1 gene. There is no correlation between X-ALD phenotype and mutations in the ABCD1 gene. Further studies for searching additional non-genetic factor which determine the phenotypic variation will be needed.

• Progress in Medical Physics
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• v.13 no.4
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• pp.209-217
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• 2002

There have been many studies on the application of the reciprocal advantages of multimodality image to define accurate target volume in the Process of radiation treatment planning. For the proper use of the multimodality images, the registration works between different modality images should be performed in advance. In this study, we selected chamfer matching method and mutual information method as most popular methods in recent image registration studies considering the registration accuracy and clinical practicality. And the two registration methods were analyzed to deduce the optimal registration method according to the characteristics of images. Lung phantom of which multimodality images could be acquired was fabricated and CT, MRI and SPECT images of the phantom were used in this study. We developed the registration program which can perform the two registration methods properly and analyzed the registration results which were produced by the developed program in many different images' conditions. Although the overall accuracy of the registration in both chamfer matching method and mutual information method was acceptable, the registration errors in SPECT images which had lower resolution and in degraded images of which data were removed in some part were increased when chamfer matching method was applied. Especially in the case of degraded reference image, chamfer matching methods produce relatively large errors compared with mutual information method. Mutual information method can be estimated as more robust registration method than chamfer matching method in this study because it did not need the prerequisite works, the extraction of accurate contour points, and it produced more accurate registration results consistently regardless of the images' characteristics. The analysis of the registration methods in this study can be expected to provide useful information to the utilization of multimodality images in delineating target volume for radiation treatment planning and in many other clinical applications.

• Journal of Veterinary Clinics
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• v.32 no.6
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• pp.511-513
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• 2015

A 12-year-old spayed Pomeranian was presented with a purulent, erythematous mass. The dog also suffered from concurrent hyperadrenocorticism and diabetes mellitus. Sporothrix schenckii was isolated through the fungal culture of the mass. Surgical ablation of the mass was performed for the removal of continuous inflammation and fungal infection of deep origin. After histological examination of the mass, severe multifocal pyogranulomatous dermatitis and panniculitis were diagnosed. This is the first confirmed case of pyogranulomatous dermatitis and panniculitis due to Sporothrix schenckii infection in a dog with concurrent hyperadrenocorticism and diabetes mellitus. In addition this is the first case report of sporotrichosis in South Korea.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1232-1238
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• 2005

Purpose : Though more than 15 years have passed after introduction of Lorenzo's oil therapy in X-linked adrenoleukodystrophy(ALD), its efficacy is still fully not known. In patients who already have neurologic symptoms, most reports indicate that the neurologic disability continues to increase. We evaluated its efficacy in X-linked ALD patients. Methods : Four patients who were treated with Lorenzo's oil for at least 12 months were enrolled from 1996 to 2003. During treatment, changes of neurologic symptoms, brain magnetic resonance imaging(MRI) findings, and serum saturated very long-chain fatty acid(C26:0) were assessed. Results : Two patients with childhood cerebral ALD had progression of neurologic symptoms and MRI lesions during treatment. One asymptomatic patient developed childhood cerebral ALD after six year treatment of Lorenzo's oil. One "Addison only" patient remained neurologically intact after three years. During Lorenzo's oil therapy, serum C26:0 levels which had increased at diagnosis decreased in all four patients. Conclusion : Treatment with Lorenzo's oil did not prevent disease progression in childhood cerebral ALD patients who were already symptomatic. Long term follow up will be needed in asymptomatic ALD including "Addison only" to reveal the efficacy of Lorenzo's oil.

• Journal of the Korean Society of Radiology
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• v.85 no.1
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• pp.109-123
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• 2024

Xanthogranulomatous (XG) inflammatory disease is a rare benign disease involving various organs, including the gallbladder, bile duct, pancreas, spleen, stomach, small bowel, colon, appendix, kidney, adrenal gland, urachus, urinary bladder, retroperitoneum, and female genital organs. The imaging features of XG inflammatory disease are nonspecific, usually presenting as a heterogeneous solid or cystic mass. The disease may also extend to adjacent structures. Due to its aggressive nature, it is occasionally misdiagnosed as a malignant neoplasm. Herein, we review the radiological features and clinical manifestations of XG inflammatory diseases in various organs of the abdomen and pelvis.

• Journal of Veterinary Clinics
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• v.31 no.3
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• pp.233-236
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• 2014

An 11-year-old, intact male Shih Tzu presented with obesity, thin hair coat, and abdominal distention. The patient had previously received corticosteroid therapy for dermatitis. Thoracic radiographs showed incidental findings of a generally diffuse bronchointerstitial pattern and markedly radiolucent pleural lines between the middle and caudal lung lobes, but clinical signs related to the thoracic radiographic findings were absent. Echogenicity of the hepatic parenchyma was increased and bilateral adrenal glands were not enlarged on ultrasonography. On computed tomography, the central regions of the lung lobes showed ground-glass attenuation, the peripheral regions of the lung lobes were relatively hypoattenuated compared with the central regions, and hyperattenuated nodules were distributed throughout the pulmonary parenchyma. Iatrogenic hyperadrenocorticism and secondary pulmonary mineralization was diagnosed on the basis of diagnostic imaging and adrenocorticotropic hormone stimulation test.

• The Korean Journal of Nuclear Medicine
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• v.24 no.1
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• pp.101-107
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• 1990

To develop $^{131}I-labelled$ m-iodobeneylguanidine $(^{131}I-MIBG)$, various experiments such as synthesis of MIBG, establishment of labelling conditions, determination of radiochemical purity, and examination of stability were carried out. 1) m-Iodobenzylguanidine (MIBG) sulfate was synthesized with a total yield of 62.4% by the condensation of m-iodobenzylamine hydrochloride with cyanamide via MIBG bicarbonate. Its physical properties, IR, $^1H-NMR$, and elemental analysis data were nearly identical to those of literature. 2) Freeze-dried or vacuum-dried kit vials were prepared from the mixture so as to contain MIBG (2 mg), ascorbic acid (10 mg), copper (II) sulfate (0.14 mg), and tin (II) sulfate (0.5 mg) per vial. Copper ( I ) catalyzed radioiodination of MIBG was carried out using kit vials and 0.01 M $H_2SO_4$ as solvent at $100^{\circ}C$ for 30 min under nitrogen atmosphere (optimal conditions). Labelling yield was 98% and radiochemical purity was 99.5%, respectively. 3) Solid-phase radioiodination of MIBG was carried out at $155^{\circ}C$ for 30 min using the prepared vials to contain MIBG (2 mg) and ammonium sulfate (10 mg). Duplicate reactions under the same conditions showed labelling yield of 95% and radiochemical purity of 99.5%. 4) $^{131}I-MIBG$ prepared either by catalytic or by solid-phase exchange method showed radio-chemical purity of 99% even after 3 days storing at room temperature.

• Applied Chemistry for Engineering
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• v.31 no.6
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• pp.585-590
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• 2020

Successful early diagnosis of cancer diseases such as lung, prostate, liver and adrenocortical carcinoma is a key step in determining the cost of treatment, survival rate, and cure rate. Most of current cancer diagnosis systems including biopsy, computed tomography (CT), positron emission tomography (PET)-CT, magnetic resonance imaging (MRI), ultrasonography, etc., require expensive and complicated equipment with highly trained human resources. Global medical and scientific communities have thus made numerous efforts on developing effective but rapid disease management system via introducing a wide spectrum of point-of-care medical diagnosis devices. Among them, a lateral flow immunoassay strip technique has gained a great attention due to many advantages such as cost-effectiveness, short inspection time, and user friendly accessibility. In this mini-review, we will highlight recent research trend on the development of colorimetry based LFIA strips for cancer diagnosis and discuss the future research direction and potential applications.

• Journal of the Korean Orthopaedic Association
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• v.54 no.3
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• pp.276-280
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• 2019

Hepatocellular carcinoma is one of the most common cancers worldwide. Extrahepatic metastasis commonly occur in the lung, lymph, nodes, bone, and adrenal glands. On the other hand, a metastasis of hepatocellular carcinoma to the skeletal muscle is rare. A 42-year-old woman presented for evaluation of a palpable mass with tenderness in her right thigh area. She has been diagnosed with hepatocellular carcinoma and pulmonary metastasis seven years ago and has received treatment. We performed incisional biopsy with suspicion of hepatocellular carcinoma metastasis from imaging studies and blood test results. The patient was finally diagnosed with metastasis of hepatocellular carcinoma in the semimembranosus muscle and treated by extensive resection. We report this case with a review of the relevant literature.