• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.1-4
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• 2016

Mucolipidosis type II (MLII; MIM#252500) and type III alpha/beta (MLIIIA; MIM#252600) very rare lysosomal storage disease cause by reduced enzyme activity of GlcNAc-1-phosphotransferase. ML II is caused by a total or near total loss of GlcNAc-1-phosphotransferase activity whether enzymatic activity in patient with ML IIIA is reduced. While ML II and ML III share similar clinical features, including skeletal abnormalities, ML II is the more severe in terms of phenotype. ML III is a much milder disorder, being characterized by latter onset of clinical symptoms and slower progressive course. GlcNAc-1-phosphotransferase is encoded by two genes, GNPTAB and GNPTG, mutations in GNPTAB give rise to ML II or ML IIIA. To date, more than 100 different GNPTAB mutations have been reported, causing either ML II or ML IIIA. Despite development of new diagnostic approach and understanding of disease mechanism, there is no specific treatment available for patients with ML II and ML IIIA yet, only supportive and symptomatic treatment is indicated.

• KIEE International Transaction on Electrical Machinery and Energy Conversion Systems
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• v.5B no.4
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• pp.392-398
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• 2005

This paper presents technologies that have strategic importance in future motor drives. The underlying strategic issue for motor drives is maintaining cost while increasing certain dimensions of functionality. The dimensions of functionality which should increase include reliability and added value features such as providing continuous energy optimization, providing sensing of the driven system suitable for application specific diagnostic purposes, and providing continuously optimal thermal utilization of the capability of the drive. This paper will address each of these issues and discuss the technology status for each case, with a focus on research needed to fully deliver the needed functionality.

• Proceedings of the KOSOMBE Conference
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• v.1997 no.11
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• pp.439-442
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• 1997

In our research, we will extract diagnostic parameters by LPC method and wavelet transform. Then, we will design artificial neural network which is based on RBF that can express input features in terms of fuzzy. Because PVC(Premature Ventricular Contraction) has possibility to cause heart attack, the detection of PVC is a very significant problem. To deal with this problem, LPC method which gives different coefficients or different morphologies and wavelet transform which has superior localization nature of time-frequency, are used to extract effective parameters or classification of normal and PVC. Because RBF network can allocate an input feature to the membership degree of each category, total system will be more flexible.

• The Korean Journal of Cytopathology
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• v.16 no.2
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• pp.75-87
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• 2005

Fine needle aspiration cytology (FNAC) is a very useful tool in the preoperative diagnosis of lesions of the salivary gland. Surgical therapy of high-grade malignancies (salivary duct carcinoma, mucoepidermoid carcinoma, squamous cellcarcinoma, carcinoma ex pleomorphic adenoma, small cell carcinoma, and sebaceous carcinoma) is different from that of benign lesions or low-grade malignancies. Therefore, the recognition of high-grade malignancies is important in salivary gland FNAC. Although recognition of high-grade malignancies of the salivary gland by FNAC is not difficult, precise classification of these malignancies is often impossible. Additionally, because of its rarity, FNAC of spindle cells and mesenchymal lesions of the salivary glands is a tool that is not familiar to many cytopathologists. The characteristic cytomorphologic features of these lesions are reviewed here with a discussion of specific diagnostic problems.

• The Korean Journal of Cytopathology
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• v.5 no.2
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• pp.176-179
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• 1994

Orbital meningioma is a rare neoplasm that, even when suspected by CT or echographic examination, requires careful histologic study for precise identification. Fine needle aspiration(FNA) biopsy has become the diagnostic technique of choice in recent years for investigating orbital masses. There have been a few previous reports on FNA biopsy of orbital menigioma. We experienced a case of orbital meningioma in a 11-yr-old boy, diagnosed by FNA biopsy. The cytohistologic features of aspirated material (intranuclear inclusions, psammoma bodies, and cells arranged in whorls) made it easy to diagnose a meningloma.

• Imaging Science in Dentistry
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• v.41 no.4
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• pp.167-170
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• 2011

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

• Journal of Korean Neurosurgical Society
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• v.48 no.6
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• pp.547-550
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• 2010

Spinal cysticercosis is a very uncommon manifestation of neurocysticercosis which is caused by the larvae of Taenia solium. However, it can develop as a primary infection through blood stream or direct larval migration. It can result in high recurrence and severe neurologic morbidity if not treated appropriately. We report the case of a 43-year-old woman who presented with severe lower back pain and left leg radiating pain in recent 2 weeks. Magnetic resonance image (MRI) of lumbar spine demonstrated extruded disc at the L5-S1 level combined with intradural extramedullary cystic lesion. We performed the open lumbar microdiscectomy (OLM) at L5-S1 on the left with total excision of cystic mass. After surgery, the patient showed an improvement of previous symptoms. Diagnosis was confirmed by histopathological examination as intradural extramedullary cysticercosis. We discuss clinical features, diagnostic screening, and treatment options of spinal cysticercosis.

• Korean Journal of Veterinary Service
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• v.40 no.2
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• pp.139-142
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• 2017

A six-year-old male captive nutria (Myocastor coypus) maintained in a closed space with a small vent was found dead in his cage. Gross findings showed multifocal nodules in varying sizes, small 0.5 to large 5 cm in diameter, intermixed with normal parenchyma were scattered all over the surface of the lungs and a kidney, which the cut surface was smooth, compact and whitish in color. Microscopically, small round to oval neoplastic cells with modest to slight amounts of cytoplasm formed acinar and gland-like structures. Immunohistochemically, cells were strongly positive for E-cadherin and slightly reactive for thyroid transcription factor-1 (TTF-1). Based on those diagnostic features, the neoplasia was diagnosed as primary pulmonary adenocarcinoma (small cell type) and metastasized into the kidney. This is the first case report of malignant pulmonary tumor and its metastasis in the nutria.

• Investigative Magnetic Resonance Imaging
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• v.20 no.4
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• pp.264-268
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• 2016

Benign fibrous histiocytoma (BFH) is a rare benign primary skeletal tumor that occurs commonly in the long bones, spine and pelvis. BFH constitutes a diagnostic challenge because it shares clinical background, radiological characteristics, and histological features with other fibrous lesions such as non-ossifying fibroma, giant cell tumor. We present a case of BFH with cystic change that occurred in the distal femur. We did not identify any case of BFH with cystic change involving the majority of the lesion that occurred in the metaepiphysis of the long bone.

• Imaging Science in Dentistry
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• v.48 no.1
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• pp.73-77
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• 2018

Organized hematoma is a pseudo-tumorous lesion mostly occurs at sinonasal cavity and often confused with malignant neoplasm. The initiation of this lesion is blood accumulation, probably due to trauma, and this hematoma develops into organized hematoma as it encapsulated with fibrous band and neo-vascularized. Since it is uninformed at temporomandibular joint (TMJ) region, imaging diagnosis might be challenging. Also, delayed detection of mass involving TMJ is not uncommon due to confusion with joint disorder. Thus, this report introduced the rare pathology, organized hematoma on TMJ with advanced imaging features. Also, diagnostic point for early detection was described for the TMJ tumors and pseudo-tumors considering complexity of surgical intervention in this region.