• Journal of The Korean Society of Inherited Metabolic disease
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• v.4 no.1
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• pp.13-17
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• 2004

Hereditary tyrosinemia type I (fiunarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that results in liver failure in infancy or chronic liver disease with cirrhosis, frequently complicated by hepatocellular carcinoma in childhood or early adolescence. Early detection of this condition is very important to early intervention for better prognosis of patients. Neonatal screening test using tandem mass spectrometry (MS-MS) is performed, and this method facilitates detection of the inborn error of tyrosine. For early treatment of tyrosinemia type I, phenylalanine and tyrosine restricted diet and NTBC (2-nitro-4-trifluoromethylbenzoyl-1,3-cyclohexanedione) for inhibition of succinylacetone production are recommended. We studied a 10-month-old Korean boy with tyrosinemia type I whose condition was not discovered earlier through conventional neonatal screening testing available in Korea. The patient presented hyperbilirubinemia, liver failure, bleeding tendency, colicky pain and skin melanin pigmentation in neonatal period. MS-MS made it possible to detect tyrosinemia type I and allowed immediate treatment of the patient. This was the first successful NTBC trial on tyrosinemia type I patient in Korea.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.2
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• pp.122-129
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• 2008

Purpose: Patients with chronic gastrointestinal disease are at risk for trace element deficiency due to impaired absorption and gastrointestinal loss. The aim of this study was to evaluate the trace element status of patients with gastrointestinal disease by blood and hair analysis, and to determine the usefulness of hair mineral analysis for diagnosing trace element deficiency not detected by a blood test. Methods: An analysis of hair minerals was performed and compared with blood mineral analysis in 13 patients with chronic gastrointestinal disease. The concentration of each element in the hair and blood was compared in the subgroups based on parenteral nutritional support or clinical symptoms. Results: Almost all patients had trace element deficiency. The trace elements deficient in the blood or hair analysis included zinc, selenium and copper. The hair zinc concentration was significantly lower in the group receiving parenteral nutritional support. The hair selenium concentration was statistically associated with the clinical symptoms of hair loss, brittle hair and loss of hair pigmentation. Conclusion: The results of this study suggest that patients with chronic gastrointestinal disease should receive adequate zinc and selenium replacement to avoid trace element deficiency especially when treated with long-term parenteral nutrition. Hair mineral analysis is useful as a complementary tool for the detection of a trace element deficiency.

• Imaging Science in Dentistry
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• v.30 no.2
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• pp.117-122
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• 2000

Fibrous dysplasia is a benign disorder of bone consisting of intramedullary proliferation of fibrous tissue and irregularly distributed, poorly developed bone. The disease manifests itself in the monostotic form in which only one bone is involved and the polyostotic form in which multiple bones at different sites are affected. We reported a extensive case of polyostotic fibrous dysplasia with involvement of craniofacial bones, mandible, ribs and extremities. A 18-year-old man showed remarkable right facial swelling who had been treated on right femur 3 years ago with a bone graft for pathologic fracture and he recognized facial swelling 5 years ago. Extraoral radiograms and computed tomogram showed diffuse sclerosis with a ground glass appearance of the most cranial bones, facial bones. The right mandibular lesion showed very expansile lesion with mottled appearance. Bone scans showed mutifocal increased uptakes in craniofacial bones, right mandible, bilaterally in ribs, humerus, femur, tibia and characteristic varus deformity of right femur (shepherd's crook defomity). This case showed exceptionally bilateral, extensive nature of bone lesion and didn't show any features of skin pigmentation and endocrine disturbances.

• Korean Journal of Cleft Lip And Palate
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• v.15 no.1
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• pp.1-10
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• 2012

Parry-Romberg syndrome(PRS) is a degenerative disease characterized by progressive hemifacial atrophy. A 10-year-old girl who had been treated for linear scleroderma at the dermatologic department visited the orthodontic department. The frontal facial photograph showed mild facial asymmetry. On the left side, mild atrophy of soft tissue, enophthalmos, cheek depression, and dry skin with dark pigmentation were observed. The radiograph showed the hypoplasia of both the maxilla and mandible on the left side. This case report describes the treatment of a patient with PRS for 7 years. To minimize the effect of progressive atrophy on the facial growth, a hybrid appliance was used. The facial photos and radiographic records were periodically taken to analyze the progression of PRS. Although it is impossible to prevent the progression of facial asymmetry, it appears to be possible to limit the atrophic effect. After the stabilization of PRS, the orthodontic treatment by the fixed appliance was performed. Additionally, autologous fat graft was performed three times at 6 month intervals. After the treatment, the patient had a confident smile and facial asymmetry was improved.

• Journal of Oral Medicine and Pain
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• v.45 no.3
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• pp.71-78
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• 2020

While oral melanotic macule is regarded as the most frequent oral pigmented lesion without any harmful symptom, oral melanoma is a very rare and life-threatening disease among oral pigmented lesions. Oral melanotic macule has previously been described as benign, with no malignant potential. However, a few case reports have raised the question of malignant potential of oral melanotic macule. In this case report, we present a case of coexistence of oral melanotic macule and oral melanoma. A 66-year-old man with a chief complaint of black pigmentation on gingiva showed the lesion spread out on the right palatal gingiva, the right maxillary buccal gingiva and the right buccal mucosa, appearing to merge with one another. Biopsies were performed on the right palatal gingiva and the right buccal mucosa. While the lesion on the right palatal gingiva was diagnosed as an oral melanotic macule, the other lesion on the right buccal mucosa was diagnosed as an oral melanoma. The present case implied the possibility of malignant potential of oral melanotic macule. Therefore, oral melanotic macule needs careful periodic observation for early detection and prompt treatment of the transformed oral melanoma.

• Advances in pediatric surgery
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• v.2 no.2
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• pp.88-93
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• 1996

A clinical analysis was made of 42 pilomatricoma in 34 children treated, from January 1980 to August 1996 at the Department of Pediatric Surgery, Hanyang University. The gender ratio was 13 to 21 with female preponderance. The average age at presentation was 7 years 3 months(range 8 months to 19 years old). The time average interval from onset to excision was 9.8 months. The predilection site was neck, upper extremities, face, trunk and lower extremities in the decreasing order of frequency. The masses were less than 3cm in diameter and there was no correlation between age at presentation and size of the mass. Of the six children with multiple lesions, two presented with multiple lesions initially and four presented with second lesion metachronously after excision of the primary lesions. Two girls had cysticercosis and von Recklinghausen's disease respectively in association with a pilomatricoma. All lesions were encapsulated subcutaneous masses which were clearly distinguished from surrounding tissue, and 4 of them had pigmentation, ulceration, skin disruption and hemorrhagic changes in the overlying skin. Microscopically the mass was composed of basophilic cells and eosinophilic shadow cells. Calcification, foreign body giant cell, ossification, focal cystic, inflammatory or necrotic changes were also seen.

• KSBB Journal
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• v.29 no.1
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• pp.1-8
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• 2014

Tyrosinases catalyze the hydroxylation of monophenolic compounds and the conversion of o-diphenols to oquinones. The enzymes are mainly involved in the modification of tyrosine into L-3,4-dihydroxyphenyl-alanine (L-DOPA) and DOPA/DOPAquinone-drived intermolecular cross-linking, which play the key roles of pigmentation to the cells. It is ubiquitously distributed in microorganisms, plants, and animals all around the nature world. They are classified as copper- containing dioxygen activating enzymes; two copper ions are coordinated with six histidine residues in their active sites and they are distinguished as met-, deoxy-, and oxy-form depending on their oxidative states. Natural extraction and recombinant protein approaches have been tried to obtain practical amounts of the enzymes for industrial application. Tyrosinases have been widely applied to industrial and biomedical usages such as detoxification of waste water containing phenolic compounds, L-DOPA as a drug of Parkinson's disease, biomaterials preparation based on the cross-linking ability and biosensors for the detection of phenolic compounds. Therefore, this review reports the mechanism of tyrosinase, biochemical and structural features and potential applications in industrial field.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.40 no.3
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• pp.140-146
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• 2014

Pigmented villonodular synovitis (PVNS) is a benign but locally aggressive and destructive disease originating in the synovial membranes. It is a proliferative disorder of unknown etiology. Involvement of the temporomandibular joint (TMJ) is very rare. Computed tomography clearly reveals areas of lytic bone erosion and sclerosis, and also clearly defines the extent of the tumor which is the focal areas of hyperdensity within the soft-tissue mass. Magnetic resonance images invariably show profound hypointensity on both T1- and T2-weighted sequences due to hemosiderin pigmentation. Additionally, high signal intensity on T2-weighted images may indicate cystic loculation of the joint fluid. This case study describes a rare case of PVNS of the TMJ with bone destruction of the mandibular condyle. Complete surgical excision of the lesion was performed through a preauricular approach with temporal extension. During the 10-year follow-up, two more operations were performed due to local recurrence and the fracture of the reconstruction plate. Total joint reconstruction with Biomet was finally performed, and the absence of disease was confirmed with a biopsy report showing fibrosis with hyalinization and mild inflammation of the excised soft tissue from the old lesion.

• Korean Journal of Veterinary Research
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• v.36 no.4
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• pp.845-858
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• 1996

The purpose of this study was to establish early diagnostic methods for the detection of Aujeszky's disease viral antigens and nucleic acid in nasal cells, and buffy coats from experimentally infected living pigs by a combination of immunocytochemistry, in situ hybridization with digoxigenin(DIG)-labled probe and electron microscopy. Forty days old piglets were inoculated intranasally with $10^{7.0}TCID_{50}$ of Aujeszky's disease virus (ADV, NYJ-1-87 strain). The viral antigens and nucleic acid of ADV were detected in nasal cells, and buffy coat for 20 days after inoculation by immunocytochemistry, in situ hybridization with DIG-labeled probe and electron microscopical method. The results were compared with conventional methods such as a porcine Aujeszky's disease serodiagnostic(PAD) kit, neutralization test(NT) and virus isolation. 1. The viral antigens, nucleic acids and capsids of ADV were detected in nasal cells, buffy coats from 3 days to 20 days after inoculation by immunocytochemistry, in situ hybridization with DIG-labeled probe and electron microscopy, respectively. 2. When viral antigens were detected by the immunocytochemical technique, a diffuse brown deposit was observed in the nucleus and cytoplasm of nasal cells, buffy coats and PK-15 cells under a microscope. 3. DIG-labeled DNA probe was prepared by amplification of conserved sequence of recombinant ADV-gp50 clone with polymerase chain reacction. When ADV-DNA was detected by ISH with DIG-labeled probe, purplish blue pigmentation were observed in the nuclei and cytoplasms of ADV-infected cells under a microscope. Positive signals were observed in nasal cells and in the buffy coat and PK-15 cells at the first day after inoculation. 4. Where ADV-capsids were detected by transmission electron microscopical method, aggregation of capsids was observed in the nuclei and cytoplasms of nasal cells, buffy coats and PK-15 cells. The results suggested that these methods were considered as the highly sensitive and reliable tools for rapid and confirmative diagnosis of Aujeszky's disease in living pigs.

• Journal of Microbiology and Biotechnology
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• v.28 no.1
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• pp.22-31
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• 2018

Isoflavone itself is less available in the body without the aid of intestinal bacteria. In this study, we searched for isoflavone-transforming bacteria from human fecal specimens (n = 14) using differential selection media. Isoflavone-transforming activity as the production of dihydrogenistein and dihydrodaidzein was assessed by high-performance liquid chromatography and we found Lactobacillus rhamnosus, named L. rhamnosus vitaP1, through 16S rDNA sequence analysis. Extract from Pueraria lobata (EPL) and soy hypocotyl extract were fermented with L. rhamnosus vitaP1 for 24 and 48 h at $37^{\circ}C$. Fermented EPL (FEPL) showed enhanced anti-tyrosinase activity and antioxidant capacities, important suppressors of the pigmentation process, compared with that of EPL (p < 0.05). At up to $500{\mu}g/ml$ of FEPL, there were no significant cell cytotoxicity and proliferation on B16-F10 melanoma cells. FEPL ($100{\mu}g/ml$) could highly suppress the content of melanin and melanosome formation in B16-F10 cells. In summary, Lactobacillus rhamnosus vitaP1 was found to be able to biotransform isoflavones in EPL. FEPL showed augmented anti-melanogenic potential.