Evaluation of the InnoTyper21® system for the applications into trace and degraded DNA in the Korean population.

The InnoTyper 21® Human Identification kit consists of amelogenin and 20 bi-allelic Alus, retrotransposon markers existing abundantly in human genome. The InnoTyper 21® kit produces shorter amplicons (60-125 bp) than conventional short tandem repeat (STR) genotyping kit, then it is effective on the analysis of challengeable forensic samples including insufficient or highly degraded DNAs. Also, as the genotyping with InnoTyper21® kit is compatible with PCR and capillary electrophoresis, it is easy to incorporate into the workflow in forensic laboratories. In the internal validation of InnoTyper21® kit on sensitivity, degradation, and mixture studies for the evaluation in this study, we acquired full profiles on analyzing small concentration DNA (as low as 25 pg) and highly degraded DNA (up to 105 degradation index value). Through the Korean population study, forensic statistical parameters were investigated and a specific variant of T insertion in NBC51 was confirmed in six samples. Comparison of Korean population with five populations or 1000 Genomes Project data show Korean specific substructure. It is expected that the InnoTyper 21® kit will be used into the actual forensic cases, utilizing the population study investigated through this research.

Correction to: Development and forensic validation of human genomic DNA quantification kit.

The above article was published with two author names being incorrect. The published paper states "'Hyeun Kyu Yoon and Ki min Seong", whereas it should be "'Hyun Kyu Yoon and Ki Min Seong".

Development and forensic validation of human genomic DNA quantification kit.

DNA quantification is an essential step for successful multiplex short tandem repeat (STR) polymerase chain reactions (PCR), which are used for confirming identities using human genomic DNA. The new DNA quantification kit, named the National Forensic Service Quantification (NFSQ) kit, simultaneously provides total human DNA concentration, human male DNA concentration, and a DNA degradation index (DI) using multiplex TaqMan fluorescent probes. The NFSQ was validated according to developmental validation guidelines from the SWGDAM and MIQE. NFSQ detected up to 0.00128 ng/µL and could detect male DNA up to a 1:8000 ratio of male to female DNA. In PCR inhibitor tests, NFSQ could measure DNA at a concentration of 200 ng/µL of humic acid and 600 µM of hematin. The NFSQ kit showed a DI value trend similar to other qPCR kits. In the reproducibility study, the coefficient of variation of the NFSQ kit was within 10%. The quantitative results of the casework samples obtained using the NFSQ kit were consistent with the STR interpretation results. The NFSQ kit can be useful in the human identification process, as it has detection capabilities similar to those of other comparable quantification kits.

Population genetics of insertion-deletion polymorphisms in South Koreans using Investigator DIPplex kit.

We assessed the applicability of 30 insertion-deletion polymorphisms (INDELs) in forensic use and the level of genetic diversity in South Korea (n=373) using the Investigator DIPplex kit (Qiagen). Allele frequencies, heterozygocities, and forensic efficacy parameters were determined. No deviation from Hardy-Weinberg equilibrium was observed for any of the INDEL markers. A high level of discrimination power was observed (combined power of discrimination: 0.99999999995). The combined match probability value was 2.84 × 10(-11) and the mean typical paternity indices were 0.878. Furthermore, we found one microvariant allele at HLD93 (rs2307570) that has not been reported. We expect that these 30 loci of INDEL markers will be useful for forensic identification and paternity testing in the South Korean population.

The Insertion/Deletion Polymorphism of Angiotensin I Converting Enzyme Gene is Associated With Ossification of the Posterior Longitudinal Ligament in the Korean Population

OBJECTIVE: To determine whether ACE insertion/deletion (I/D) polymorphism is associated with the ossification of the posterior longitudinal ligament (OPLL) of the spine in the Korean population. METHODS: A case-control study was conducted to investigate the association between I/D polymorphism of the angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE) gene and OPLL. The 95 OPLL patients and 274 control subjects were recruited. Polymerase chain reaction for the genotyping of ACE I/D polymorphism was performed. The difference between the OPLL patients and the control subjects was compared using the contingency chi2 test and the logistic regression analysis. For statistical analysis, SPSS, SNPStats, SNPAnalyzer, and Helixtree programs were used. RESULTS: The genotype and allele frequencies of ACE I/D polymorphism showed significant differences between the OPLL patients and the control subjects (genotype, p<0.001; allele, p=0.009). The frequencies of D/D genotype and D allele in the OPLL group were higher than those in the control group. In logistic regression analysis, ACE I/D polymorphism was associated with OPLL (dominant model; p=0.002; odd ratio, 2.20; 95% confidence interval, 1.33-3.65). CONCLUSION: These results suggest that the deletion polymorphism of the ACE gene may be a risk factor for the development of OPLL in the Korean population.

A large population genetic study of 15 autosomal short tandem repeat loci for establishment of Korean DNA profile database.

Genotyping of highly polymorphic short tandem repeat (STR) markers is widely used for the genetic identification of individuals in forensic DNA analyses and in paternity disputes. The National DNA Profile Databank recently established by the DNA Identification Act in Korea contains the computerized STR DNA profiles of individuals convicted of crimes. For the establishment of a large autosomal STR loci population database, 1805 samples were obtained at random from Korean individuals and 15 autosomal STR markers were analyzed using the AmpFlSTR Identifiler PCR Amplification kit. For the 15 autosomal STR markers, no deviations from the Hardy-Weinberg equilibrium were observed. The most informative locus in our data set was the D2S1338 with a discrimination power of 0.9699. The combined matching probability was 1.521 × 10(-17). This large STR profile dataset including atypical alleles will be important for the establishment of the Korean DNA database and for forensic applications.

Population genetic polymorphisms of 17 Y-chromosomal STR loci in South Koreans.

Haplotypes and allele frequencies of 17 Y-chromosomal STR loci included in the AmpFlSTR(®) Yfiler(®) system were obtained from a sample of 1021 unrelated individuals living in 6 provinces of South Korea. A total of 938 haplotypes were observed in the 1021 individuals studied, of which 885 were unique. The overall haplotype diversity for the 17 Y-STR loci was 0.9998, and the discrimination capacity was 0.9187. We found 11 atypical alleles (null, duplicated, triplicated, and microvariant alleles), that have not previously been reported in South Korean populations. It seems that these 17 loci are useful genetic markers for forensic personal identification and paternity testing in the South Korean population.

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.

Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean unrelated families (or isolated patients) with MELAS or MERRF. In particular, the mtDNA sequences were completely determined for 49 patients. From the mutational analysis of mtDNA obtained from blood, 5 confirmed pathogenic mutations were identified in 17 families, and 4 unreported pathogenically suspected mutations were identified in 4 families. The m.3243A>G in the tRNA(Leu(UUR))was predominantly observed in 10 MELAS families, and followed by m.8344A>G in the tRNA(Lys) of 4 MERRF families. Most pathogenic mutations showed heteroplasmy, and the rates were considerably different within the familial members. Patients with a higher rate of mutations showed a tendency of having more severe clinical phenotypes, but not in all cases. This study will be helpful for the molecular diagnosis of mitochondrial diseases, as well as establishment of mtDNA database in Koreans.

Inflammatory Myofibroblastic Tumor of the Breast / 한국유방암학회지

Inflammatory myofibroblastic tumor (IMT) is an uncommon, tumorlike lesion that occurs at a number of body sites. Although the lung is the best known and most commonly organ, IMT has been found in diverse extrapulmonary locations, including the breast.Despite the performance of breast biopsy, the finding of IMT of the breast is exceedingly rare. IMT is a benign lesion and excision is the treatment of choice, but there is a relatively high rate of recurrence. We describe here two cases of IMT of the breast that occurred in a 21-year-old woman and a 28-year-old woman.

Buerger's Disease in Korea

PURPOSE: Buerger's disease (Thromboangiitis obliterans, TAO) is characterized by non- atheromatous inflammatory disease, and segmental inflammatory thrombotic occlusions of the small & middle-sized arteries and veins of the upper or lower extremities. Any epidemiological study of Buerger's disease in Korea has not been carried out until now. This study was undertaken to investigate the incidence of Buerger's disease in Korea among the patients suffering with arterial disease. METHODS: We collected and analyzed the data on 11,128 patients who were admitted to or visited the participating 22 hospitals for chronic arterial diseases throughout the major region of the South Korea from January 1986 to December 2003. The clinical diagnostic inclusion criteria for Buerger's disease were the followings: (1) a history of smoking or tobacco abuse; (2) an age of onset less than 50 years; (3) infrapopliteal, segmental arterial occlusions with sparing of the proximal vasculature; (4) frequent distal upper extremity arterial involvement (Raynaud's syndrome or digital ulceration) or-superficial phlebitis; and (5) the absence of arteriosclerotic risk factors other than smoking. RESULTS: The incidence rate of Buerger's disease among the arterial disease (11,128 patients) was 93 patients (0.83%) when the strict criteria of Shionoya was applied. 699 male-patients (6.55%) and 30 female patients (4.12%) who met the less strict criteria (the extended clinical diagnostic criteria group) were also reviewed. The 4th and 5th decades were the most common ages with-249 patients (34.2%) and 222 patients (30.5%) respectively, being found at these ages. The mean age was 40.4+/-1.6 years (age range: 16~83 years) and this was similar in both the strict criteria group and the less strict criteria group. CONCLUSIONS: This study suggests there was a low incidence of Buerger's disease in Korea among the patients who visited the participating hospitals when the strict diagnostic criteria were used. The incidence was lower than expected even when the less strict criteria were used. The more accurate incidence of Buerger's disease among the general population can be obtained by performing careful prospective study that is participated in by not only vascular surgeons, but also the other medical specialists with utilizing the strict diagnostic criteria.

Solitary Fibrous Tumor A clinicopathologic review of five cases

We experienced five cases of solitary fibrous tumor; two in the pleura, two in the orbital soft tissue, and one in the lung parenchyma. Three patients were male, and the age of the patients ranged from 38 to 71 years (mean age: 53.6). Grossly, the masses were well circumscribed and had varying sizes from 2.5 to 30.0 cm. The cut surfaces were grayish-yellow firm with focal variegated hemorrhage, necrosis, cystic change, and myxoid area. Microscopically, these were characterized by a haphazard proliferation of spindle cells or polygonal cells separated by variable amounts of hyalinized collagen and showed a prominent vascular channels reminiscent of hemangiopericytoma in foci. Immunoperoxidase stains showed a strong reactivity for CD34, and were weakly positive for vimentin. Electron microscopical examination revealed features of fibroblast; spindle to round tumor cells were arranged in groups and surrounded by collagen. Nucleoli were seldom prominent. The cytoplasm contained many microfilaments and a moderate number of cisternae of rough endoplasmic reticulum.

Follow-Up MRI of Lumbar Facet Joint Orientation in the Patients with Herniated Lumbar Intervertebral Disc Treated Operatively and Conservatively

OBJECTIVE: The purposes of this study were to observe the radiographic changes of lumbar facet joints by magnetic resonance imaging (MRI) in conservatively and operatively treated groups of patients with herniated intervertebral disc, and to compare the biomechanical effects to lumbar facet joints according to the treatment methods. METHOD: The patients composed of 20 conservatively treated control group and 40 operatively treated group who had disc herniation at lower lumbar spine. Follow-up MRIs were performed in order to assess the radiographic changes of intervertebral disc and lumbar facet joints, such as disc degeneration, lumbar facet joint angle and tropism in either treatment groups individually. RESULTS: There are significant increase in lumbar facet joint angle in operatvely treated group at the level of both L4/5, right L5/S1 compared to that of conservately treated group, but the disc degeneration and facet joint tropism were not changed after treatment in both groups. There's no relationship between treatment period and each parameters. CONCLUSION: The radiographic biomechanical lumbar facet joint changes on MRI seems to be related to degenerative change of lumbar facet joint in operatively treated group with a lumbar disc herniation. Therefore, careful selection of optimal operation time and criteria would be important.

Tyrosine Hydroxylase, Dopamine-beta-Hydroxylase and Phenylethanolamine-N-Methyltransferase Immunoreactive Neurons of the Medulla Oblongata in the Apodemus agrarius / 대한해부학회지

The distributions and morphological characteristics of neurons displaying immunoreactivity to the catecholamine synthetic enzymes tyrosine hydroxylase (TH), dopamine-beta-hydroxylase (DBH), and phenylethanolamine-N-methyltransferase (PNMT) were examined in the adjacent sections of the whole brain in the Striped Field Mouse (Apodemus agrarius coreae) The medulla oblongata were divided into 3 parts (rostral medulla oblongata, area postrema portion of medulla oblongata and caudal medulla oblongata) in this study. In the rostral medulla oblongata, adrenergic (TH-, DBH- and PNMT-positive) neurons were found in dorsal motor nucleus of vagus, nucleus tractus solitarius, dorsal strip and medial longitudinal fasciculus. In the ventrolateral medullary tegmentum of rostral medulla oblongata, adrenergic neurons were found between gigantocellular reticular nucleus and paragigantocellular reticular nucleus. In the area postrema portion of medulla oblongata, noradrenergic neurons were found in the nucleus tractus solitarius, and area postrema. And dopaminergic or adrenergic neurons were also found in dorsal motor nucleus of vagus. In the caudal medulla oblongata, noradrenergic neurons were found in the medial part of nucleus tractus solitarius and superior part of the lateral reticular nucleus.

Fitting of a Myoelectric Hand for Wrist Disarticulation

Upper limb amputations usually leave a significant functional limitation in activities of daily living for the amputees despite the use of a conventional prosthesis. New developments in prosthetic design have greatly increased the rehabilitation potential for active individuals with the upper limb amputation. The application of external power to artificial hands and elbow, and elimination of the control cables, the most unpopular feature of body-powered arms, has had a great impact on upper-limb prosthetics in the last two decades. We applied a myoelectric hand to a traumatic amputee with wrist disarticulation. As a result, it was possible to provide a considerable improvement in function and cosmesis with this new device. Further research will undoubtly improve the appearance, function and durability of the present electrically powered myoelectrical hand, making them even more acceptable and useful to the upper limb amputees.

The Value of Radiolographic Assessment in Patellofemoral Pain Syndrome

Patellofemoral pain syndrome (PFS) is one of the most common types of anterior knee pain and many studies reported the patellofemoral malalignments (such as high patella, increased sulcus angle and increased congruence angle) as possible causes of the syndrone. In order to confirm this hypothesis, the difference of congruence, sulcus angles and patella height ratio in normal subjects and PFS patients was evaluated. The PFS subjects were selected according to the criterias of anterior knee pain, pain aggravation after the repeated knee flexion and extension motion. A combined knee injury was screened by MRI. We have compared our data to the previous studies of Merchant et al.(1974), Aglietti et al.(1983), and Dowd and Bently(1986). The radiographic studies were done on lateral view, Merchant view, and patella height was measured by Insall-Salvati method and Blackburn-Peel method. The sulcus angle and the congruence angle were measured on a Merchant view. The results showed that the average patella height of normal group was 1.00+/-0.17 by the Insall test and the patella index was 1.02?0.23. There was no statistical difference between normal and patient group of which the patella height was 0.96+/-0.16 by Insall test with patella index of 1.04?0.17. On Merchant view, the congruence angle was +/-7 +/-11 degrees, and the sulcus angle was 135.5+/-6 degrees in PFS patient group, and in normal group the congruence angle was +/-2 +/-14 degrees, and the sulcus angle was 136+/-5. A little statistical variation was noted in both group. Our results were not much different from previous studies except for the Aglietti's study in congruence angle. We concluded that the Insall test, patella index, congruence angle and sulcus angle could not help to idetify patellofemoral malalignment of knee joint in PFS patients.

Pleomorphic Xanthoastrocytoma: A Case Report

Pleomorphic xanthoastrocytoma is histologically characterized by marked cellular pleomorphism of lipid-laden neoplastic astrocytes and bizarre giant cells showing mitotic figures and high cellularity. Inspite of its ominous-looking microscopic features, howerver, the prognosis is usually favorable. This tumor develops mainly in the supratentorial area of young people and frequently involves the leptomeninges. We experienced a case of pleomorphic xanthoastrocytoma in 18 year-old-male. In addition to the cellular pleomophism, the prominent reticulin fibers surround the individual tumor cells or the tumor cells nests. Immunohistochemical staining and electron microscopy revealed glial fibrillary acidic protein(GFAP) expression and pericytoplasmic basal lamina in the tumor cells.

Flow cytometric DNA analysis of gastric cancer--correlation with histology and clinical outcome

Nuclear DNA content was analysed by means of flow cytometric measurements in 103 patients with gastric carcinomas, using paraffin-embedded archival tissue. DNA aneuploidy was found in 40 cases (38.8%). The mean DNA index of aneuploid tumors was 1.45(range 1.13 to 2.37). No significant association between ploidy and either age, sex, tumor location, size, stage, growth pattern, or histologic type was found. However, the incidence of aneuploidy was higher in high grade carcinomas than in low grade carcinomas; the incidence of aneuploidy was 10%, 68.8%, and 45.8% for Grade II, III, and IV carcinomas, respectively, as compared with Grade I carcinomas which were all diploid. On statistical analysis, Abnormal cellular DNA content was significantly correlated with high histologic grade (P<0.005). Patients with aneuploid cancer (39.2%) had a poorer prognosis than those with diploid cancer (70.0%) based on (P<0.01). The 2-year survival rate for advanced gastric carcinoma. Therefore, DNA ploidy might be a useful prognostic factor in cases of advanced gastric cancer.

Neuroendocrine Carcinoma of the Gallbladder Arising as Double Tumor

Pleomorphic (undifferentated) carcinoma is a rare histologic type of carcinomas of the gallbladder and an atypical carcinoid is thought to be an intermediated type between carcinoid tumor and small cell carcinoma. Dense core "neurosecretory" granules can be found in the above mentioned tumors. We experienced a case of a double tumor of the gallbladder in a 51-year old male patient. Grossly, a large solid mass, about 5.0 cm in diameter, was found in the fundic portion and the neck portion also had a small 1.5 cm-sized polypoid mass. Microscopically, these lesions had features of pleomorphic carcinoma and atypical carcinoid, respectively. Immunohistochemically, they manifested reactivity for neuron specific enolase. Ultrastructural study revealed neurosecretory granules in the cytoplasms of tumor cells of the fundic and neck masses. Although light microscopic features of these tumor masses are quite different, we consider that these tumors represent a spectrum of neuroendocrine differentiation.