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

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*

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*

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.

BACKGROUND: Cine MR imaging has been found to bo a non-invasive technique in evaluation cardiac anatomy and cardiovascular function in a variety of cardiac diseases. The capability of this technique for quantatively estimating the severity of regurgitation has not been tested in newborns. The purpose of this study is to compare the degees of tricuspid regurgitation by echorcardiography with those by cine MRI, and verify the utility of MRi in evaluating tricuspid regurgitation. METHODS: Fifty-one newborns with tricuspid regurgitation were evaluated on the same day by echocardiography and cine MRI. Area and regurgitant fraction of area were estimated at four chamber view by two techniques. RESULTS: The area of tricuspid regurgitation was similar by two techniques. The correlation for the area(r=0.66, p<0.025) and the regurgitant area fraction(r=0.647, p<0.025) of tricuspid regurgitation obained by cine MRI with echocardiographic data was good. CONCLUSION: Cine MR imaging can provide quantative data estimating for evaluation of tricuspid regurgitation in newborns.
Echocardiography ; Echocardiography, Doppler* ; Heart Diseases ; Humans ; Infant, Newborn* ; Magnetic Resonance Imaging ; Magnetic Resonance Imaging, Cine* ; Tricuspid Valve Insufficiency*

This report presents an unusual case of primary malignant melanoma in the midesophagus. The patient was a 36-year-old woman presenting with dysphagia and odynophagia. The resected esophagus and proximal stomach showed a dark purple large polypoid mass, measuring 6.0 3.3 2.0 cm, with a diffuse tan pigmentation of surrounding mucosa in the mid-esophagus and two small daughter nodules, up to 1.2 0.3 cm, in the lower esophagus near the gastro-esophageal junction. A microscopic examination revealed a malignant melanoma of epithelioid cell type confined to mucosa and submucosa with a diffuse melanosis. Cytoplasmic immunoreactivity for HMB 45 and S-100 protein were noted. An electron microscopic examination revealed large, loosely cohesive variable shaped cells with a few cytoplasmic premelanosomes.
Adult ; Cytoplasm ; Deglutition Disorders ; Epithelioid Cells ; Esophagus* ; Female ; Humans ; Melanoma* ; Melanosis ; Mucous Membrane ; Nuclear Family ; Pigmentation ; S100 Proteins ; Stomach ; Triacetoneamine-N-Oxyl

No abstract available.
Angiotensin II* ; Angiotensins* ; Animals ; Endocrine System* ; Rats*

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