Recently, next generation sequencing (NGS) has received attention as the ultimate genotyping method to overcome the limitations of capillary electrophoresis (CE)-based short tandem repeat (STR) analysis, such as the limited number of STR loci that can be measured simultaneously using fluorescent-labeled primers and the maximum size of STR amplicons. In this study, we analyzed 15 autosomal STR markers via the NGS method and evaluated their effectiveness in STR analysis. Using male and female standard DNA as single-sources and their 1:1 mixture, we sequentially generated sample amplicons by the multiplex polymerase chain reaction (PCR) method, constructed DNA libraries by ligation of adapters with a multiplex identifier (MID), and sequenced DNA using the Roche GS Junior Platform. Sequencing data for each sample were analyzed via alignment with pre-built reference sequences. Most STR alleles could be determined by applying a coverage threshold of 20% for the two single-sources and 10% for the 1:1 mixture. The structure of the STR in each allele was accurately determined by examining the sequences of the target STR region. The mixture ratio of the mixed sample was estimated by analyzing the coverage ratios between assigned alleles at each locus and the reference/variant ratios from the observed sequence variations. In conclusion, the experimental method used in this study allowed the successful generation of NGS data. In addition, the NGS data analysis protocol enables accurate STR allele call and repeat structure determination at each locus. Therefore, this approach using the NGS system will be helpful to interpret and analysis the STR profiles from singe-source and even mixed samples in forensic investigation.
Alleles ; DNA ; Electrophoresis, Capillary ; Female ; Gene Library ; Humans ; Ligation ; Male ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Statistics as Topic

A 40-year-old woman presented with a pruritic erythematous eroded patch on the right labium majus which had been for 3 years. Histopathological findings were consistent with superficial basal cell epithelioma. Basal cell epithelioma of the labium majus is a rare neoplasm and its clinical appearance is usually nodular. In contrast to the other types of basal cell epithelioma, the superficial type occurs mainly on the trunk. We report a case of superficial basal cell epithelioma arising from the labium majus.
Adult ; Carcinoma, Basal Cell* ; Cytochrome P-450 CYP1A1 ; Female ; Humans

No abstract available.
Castration ; Granuloma ; Granuloma, Foreign-Body

PURPOSE: Bone involvement is known to develop in 40-70Yo of pediatric acute leukemia. We aimed to analyze the clinical course and result of therapy in pediatric acute leukemia with bone involvement. METHODS: Twenty-seven patients diagnosed as pediatric acute leukemia at Dong San Medical Center from Jan. 1996 to Aug. 1998 were evaluated. According to bone X-ray and whole body bone scan, the patients were divided into two groups. RESULTS: Twenty-seven patients were enrolled in this study with 14 patients(52Yo) showing definite bone involvement on simple X-ray or bone scan. Mean age of patients with bone involvement was 5.5 years. Regarding the type of leukemia, 9 patients(64%) were acute lymphocytic leukemia. Ten patients(71%) out of 14 with bone involvement complained of bone pain at the involved bony site. Site of involvement was most frequent in the lower extremity. On simple X-ray, osteolytic lesion was found in 7 patients(50%), diffuse osteopenia in 2 patients(14%) and pathologic fracture in 2 patients(14%). In bone scan, radioactivity was increased in whole cases of patients with bone involvement. Thirteen patients(93%) were completely remitted by chemo-therapy, but, one AML patient died due to induction failure. CONCLUSION: Bone involvement occured in 52% of pediatric acute leukemia. Bone involvement was more frequent in male patients in the lower extremity, and osteolytic lesion was the most frequent finding on simple X-ray. There was no relevence between bone involvement and prognosis. Further study will be needed to evaluate long-term survival and prognosis. (J Korean Pediatr Soc 2000;43:806-813)
Bone Diseases, Metabolic ; Fractures, Spontaneous ; Humans ; Leukemia* ; Lower Extremity ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Prognosis ; Radioactivity

PURPOSE: To evaluate the value of fast field echo(FE) technique in accesing temporOmandibular joint(TMJ) dynamics. MATERIALS AND METHODS: A series of 120 TMJ MRI examinations of 60 symptomatic patients was performed. The fast FE technique was used to provide dynamic images of the TMJs in various phase of mouth opening with a step-bite-block. RESULTS: Among 120 cases, there were 30 cases which were normal, 21 cases of anterior displacement with reduction, 66 cases of anterior displacement without reduction, 11 cases of deformity of menisci, 23 cases of bony deformity, and 3 cases of medial displacement. The menisci and condyles were clearly delineated and the motions of the menisci during jaw opening were well evaluated in both normal and pathologic conditions. CONCLUSION: The dynamic TMJ MRI scan using fast FE technique permits both fast scanning and study of joint dynamics as well as TMJ anatomy.
Congenital Abnormalities ; Humans ; Jaw ; Joints ; Magnetic Resonance Imaging* ; Mouth ; Temporomandibular Joint*

Neurocutaneous melanosis is a very rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi and benign or malignant melanotic tumors of the central nervous system. We report herein a case of neurocutaneous melanosis with leptomeningeal melanosis and a malignant melanoma of the right temporal lobe in a 46-year old man. The case is exceptional as regards the late onset of symptoms and death. Even without a malignant melanoma, the symptomatic neurocutaneous melanosis has a fatal course. The syndrome is rare but lethal, so the dermatologist should be aware of this syndrome when evaluating the patients with large or numerous congenital melanocytic nevi so as to watch for the usual signs of increased intracranial pressure and to take prompt palliative measures.
Central Nervous System ; Humans ; Intracranial Pressure ; Melanoma ; Melanosis* ; Nevus, Pigmented ; Temporal Lobe

PURPOSE: Stimulating the proliferation and migration of periodontal ligament cells (PDLCs) has become the main goal of periodontal regeneration. To accomplish this goal, regeneration procedures have been developed, but results have not been predictable. Recently, tissue engineering using enamel matrix derivatives (EMDs) and growth factors has been applied to periodontal regeneration; however, the mechanism of EMDs is largely unknown. The aim of this study was to investigate the effects of EMDs on the proliferation and release of growth factors from PDLCs. MATERIALS AND METHODS: Human PDLCs were removed from individually extracted 3rd molars of healthy young adults, and cultured in the media containing EMDs (Emdogain, Biora, Malmo, Sweden) at concentration of 0, 12.5, 25, 50, 100, and 200 µg/mL each. Cell proliferation and ALP (alka-line phosphatase) activity were measured. The evaluation of growth factors released by PDLCs was also performed by one-way analysis of variance (ANOVA) and Bonferroni's multiple comparison test. RESULTS: Significantly increased proliferation and ALP activity were observed in PDLCs treated with over 25 µg/mL and 50 µg/mL EMDs, respectively. Additionally, treatment of PDLCs with 50 µg/mL resulted in significantly increased release of vascular endothelial growth factor (VEGF) and transforming growth factor (TGF)-β after 24 h and 48 h, respectively. CONCLUSION: EMDs enhance the proliferation and ALP activity of PDLCs, and promote the release of growth factors, including VEGF and TGF-β, from PDLCs. Therefore EMDs could be one of the effective methods for periodontal regeneration.
Cell Proliferation ; Dental Enamel* ; Humans* ; Intercellular Signaling Peptides and Proteins* ; Molar ; Periodontal Ligament* ; Regeneration ; Tissue Engineering ; Transforming Growth Factors ; Vascular Endothelial Growth Factor A ; Young Adult

PURPOSE: This study aimed at not only suggest some ideas useful in planning and doing the safety education in the elementary schools in the near future putting into test the safety education proposal which has been developed by researchers in accordance with the national 7st education courses but also improve health of the children through taking right safety knowledge and sound safety attitude. METHOD: For this study 140 student are selected from 3-5th grade of the elementary school in Kyoungki-Do and Kwangwon-Do and have been taught the safety education during 10weeks, 10times. RESULT: 1) After the safety education, knowledge about the injury prevention of the children show to be significantly different from that they had before(t=-9.156, p=.000). 2) In order to look into any effect of the attitude about injury prevention after the safety education there were significant difference(t=-3.755, p=.000).CONCLUSION: As the findings of the study indicating that safety education expand the correct knowledge about injury prevention and have more affirmative and sound attitude about injury prevention. So it may be concluded that, safety education have the positive effect both knowledge and attitude about injury prevention among elementary school children.
Child* ; Education* ; Gangwon-do ; Humans ; Child Health

Teratocarcinoma is a form of mixed germ cell tumor composed of a mixture of teratoma and embryonal carcinoma. It is rarely found in the brain, but when present it is most commonly found in the pineal region. We investigated a case of primary teratocarcinoma in the pineal region. The patient was a 10 year old boy who had suffered from a bitemporal headache for one month. Brain CT and MRI revealed a rather well defined ovoid heterogenous mass in the pineal gland region, measuring 4.3 x 3.8 x 3.0 cm in size. Microscopically the tumor contained areas of immature teratoma and embryonal carcinoma. Immunohistochemical staining revealed positive reactions for cytokeratin, epithelial membrane antigen, carcinoembryonic antigen, and alpha-fetoprotein in the embryonal carcinoma component.

Abnormalities in the number and function of platelets may contribute to thromboembolic complications in patients with essential thrombocythemia(ET). Physicians often use hydroxyurea which reduces the platelet count for the initial treatment of ET. A 74-year-old man with ET was presented with headache, dysarthria, and right hemiparesis 10 months after discontinuation of hydroxyurea. Initial platelet count was 450x103/microliter and we gave him heparin. However, his platelet count rised upto 1,019x103/microliter within 4 days. He was on hydroxyurea 1.5 g/day and his symptoms improved with decrease of platelet count. We report a case of left MCA(middle cerebral artery) multifocal infarction in ET after discontinuation of hydroxyurea.
Aged ; Cerebral Infarction* ; Dysarthria ; Headache ; Heparin ; Humans ; Hydroxyurea* ; Infarction ; Paresis ; Platelet Count ; Thrombocythemia, Essential*