Effects of Erythropoietin in Hypoxia-Induced Ischemia on Differentiated Human Neuroblastoma SH-SY5Y and Rat Stroke Model / 대한정신약물학회지

OBJECTIVE: The hematopoietic cytokine, erythropoietin (EPO) is known to have neuroprotective effects including promotion of neuronal survival and regeneration after ischemic injury. This study was to investigate the effects of EPO on synaptogenesis and neural restoration in the ischemic condition on neuronal differentiated SH-SY5Y cells and on the behaviors in rat animal model induced by middle cerebral artery occlusion. METHODS: We analyzed the neurite outgrowth and the gene expression of differentiated human neuroblastoma SH-SY5Y cells after the hypoxic stress. Moreover, we performed the motor functional behavior test in EPO treatment of Sprague Dawley rats following cerebral ischemia induced by middle cerebral artery's occlusion (MCAO). RESULTS: Treatment of 2 and 10 units EPO for 1 week showed increase of neurite outgrowth SH-SY5Y cells, compared with non-treatment group (p < 0.05). The results of reverse transcriptase-polymerose chain reaction (RT-PCR) also showed that both synaptophysin (SYP) genes and Growth Associated protein 43 (GAP43) genes in EPO treated cells were significant increased compared with non-treated ischemic group, respectively. The foot fault behavior was recovered in MCAO with EPO treatment group than MCAO group, significantly. CONCLUSION: The elongation of neurite and the increased expressions of SYP and GAP43, and recovered behavioral evidence in the EPO treatment are involved in possible role in neural restoration and synaptogenesis in hypoxic injuried brain. In this study, we suggest that EPO treatment will be may supportive medication to stroke patients to improve the functional brain disturbance.

Prevalence of Human Papillomavirus Genotypes in Routine Pap Smear of 2,562 Korean Women Determined by PCR-DNA Sequencing

The infections by human papillomaviruses (HPVs) are clearly associated with the subsequent development of cervical cancer. In this study, HPV genotype distribution and prevalence were detected in Korean women from January to December 2008 using PCR-DNA sequencing. A total of 2,562 cervical samples from Korean women having routine Pap smear cytology screening were used. HPV DNA was extracted from cervical swab samples and amplified by PCR in L1 region of HPV. HPV DNA was detected in 23.2% and 65.5% from the groups of normal and abnormal Pap cytology, respectively. The prevalence of high-risk types of HPV had the highest frequency in the <30 year-olds' group (50.6%). The prevalence of HPV in normal, ASCUS, LSIL and HSIL groups was 23.2%, 58.1%, 96.3% and 97.0%, respectively. Moreover, the frequencies of the high-risk types of HPV were 16.2% in the normal Pap cytology, 44.7% in the ASCUS, 76.1% in the LSIL and 94.1% in the HSIL groups. The prevalence of the high-risk types of HPV increased in proportion to the severity of the cytological classification. In the HSIL group, HPV type 16 was the most frequently found at 32.4%, followed by types 58, 53 and 33 at 17.6%, 14.7% and 11.8%, respectively. HPV type 82 was found in 5.6% of the HSIL group and was not detected in the normal Pap cytology group. The frequency of high-risk type of HPV 82 is firstly reported in Korean women. This finding could be an informative basis for the development of future HPV vaccination strategies in Korean women.

A De Novo Centric Fission of Chromosome 11 in a Patient with Recurrent Miscarriages

We report on a de novo centric fission of chromosome 11 in a healthy female referred for chromosome analysis due to recurrent miscarriages. Both fission products were mitotically stable. This centric fission of chromosome 11 appears to have no clinical significance for this patient other than recurrent miscarriages.

Molecular genetic evidence of Y chromosome loss in male patients with hematological disorders / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>There has been continuous debate as to whether Y chromosome loss is an age related phenomenon or a cytogenetic marker indicating a malignant change. This study aimed to investigate the frequency of Y chromosome loss in the specific patients in order to determine whether it is an age related phenomena or a cytogenetic marker indicating a malignant change.</p><p><b>METHODS</b>Five hundred and ninety-two male patients with a median age of 59 years old (22 - 95 years) were included in this study. These patients were divided into two groups: the study group, including 237 patients who had hematological disorders included myeloproliferative disorder (MPD), myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), chronic myeloid leukemia (CML), multiple myeloma (MM), and lymphoma and the control group including 355 patients with no evidence of hematological disease. Both conventional cytogenetics and fluorescence in situ hybridization using DNA probes specific for the centromere of chromosomes X or Y were performed according to our standard laboratory protocols.</p><p><b>RESULTS</b>Twenty-four out of 237 patients with hematological disorders (10.1%) had Y chromosome loss. Of these 24 patients, 2 patients had AML (5.0% of all AML patients), 2 patients had CML (5.7% of all CML patients), 2 patients had MPD (8.0% of all MPD patients), 3 patients had MM (10.0% of all MM patients), 5 patients had lymphoma (10.6% of all lymphoma patients) and 10 patients had MDS (16.7% of all MDS patients). Twenty-one out of these 24 patients had a loss of Y chromosome as the sole anomaly and the remaining three had a loss of Y chromosome accompanied with other structural changes detected by conventional cytogenetic analysis. Fluorescence in situ hybridization (FISH) analysis confirmed the routine cytogenetic results. All 24 patients had a loss of Y chromosome with a range of 17.5% - 98.5% of cells. Two of the patients, one with AML and another with CML, had karyotype and FISH testing done both at the initial diagnosis and during remission. The results showed a loss of Y chromosome at initial diagnosis but a normal 46, XY karyotype during remission. Only 9 out of 355 patients (2.5%) without evidence of hematological disease had Y chromosome loss, among them 7 patients had cardiovascular diseases and 2 patients had kidney diseases. Comparison of the incidence of Y chromosome loss in patients with hematological disorders or without evidence of hematological disease using statistical analysis showed a statistically significance difference (P < 0.05).</p><p><b>CONCLUSIONS</b>The present study demonstrated that the frequency of Y chromosome loss is significantly higher in patients with hematological disorders than in patients without hematological disorders, which indicates that the loss of Y chromosome is associated with a neoplastic change.</p>

Identification of marker chromosomes by reverse painting fluorescence in situ hybridization and comparative genomic hybridization / 대한산부인과학회지

OBJECTIVE: Although marker chromosome is defined as an abnormal chromosome in which no part can be identified, derivative chromosomes with structural abnormalities of unknown origin are also called as marker chromosomes conventionally. The clinical significance of a marker chromosome is determined according to the origin of marker chromosome. In this study reverse painting fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH) methods were employed to elucidate the origin of marker chromosomes in 5 clinical cases. METHODS: Reverse painting probes were generated from five copies of each marker chromosomes microdissected with micromanipulator, amplified with DOP-PCR, and labeled with fluorochromes. The probes were hybridized to normal metaphases. For CGH, normal control and patients' DNA were directly labeled with spectrum-red-dUTP and spectrum-green-dUTP by CGH nick translation kit, and hybridized to normal reference metaphases. The CGH images were captured with a computer controlled fluorescence microscope equipped with a CCD camera and analyzed by Cytovision workstation. RESULTS: Five marker chromosomes were identified as follows (1) derivative chromosome 15 inducing partial trisomy of 15pter->q21, (2) isochromosome of 18p causing 18p tetrasomy, (3) short arm of chromosome 5 causing 5p trisomy (4) small accessory chromosome originated from centromeric region of chromosome Xq11->q12 (5) der(17) with inverted duplication of the short arm of chromosome 17. In all cases the origin of each marker chromosomes were identified successfully with reverse painting FISH, and these results were concordant with the CGH profiles. CONCLUSION: Our results indicate that combined reverse painting FISH and CGH is a rapid, convinient and powerful tool to identify the origin of marker chromosomes and derivative chromosomes caused by various chromosome abnormalities such as translocation, duplication, deletion.

The Study of Synergy between the BchE-k Variant and the ApoE Gene in the Alzheimer Dementia of the Korean Population

The Apolopoprotein E type 4 allele (ApoE epsilon 4) is genetically associated with the common late anset familial and sporadic forms of Alzheimer's disease. The BchE-k variant, which is the common varant of the BchE gene, has been reported to show allelic association with AD in subjects who are also carriers of the epsilon 4 allele of the ApoE, especially in subjects over the age of 75. This study was performed to evaluate the distribution of the ApoE and the BchE genotypes in the healthy and AD groups and to evaluate the synergy between the BchE-k variant and the ApoE epsilon 4 in AD. The ApoE and the BchE genotypes were determined in DNA samples from 610 healthy people and 60 LOAD patients by using ARMS by standard agarose gel electrophoresis. The effect of the ApoE epsilon 4 was closely related to AD(p<0.05). A comparison between the AD patients and the healthy individuals, both with the epsilon 4 allele, indicated an interaction between the BchE-k and the ApoE epsilon 4(p<0.05)/ The association of the BchE-k with AD was limited to carriers of the ApoE epsilon4 allele, among whom the presence of the BchE-k gave an odds ratio of AD 3.48 (95% C.I. 1.3-9.2). Therefore, these results suggested that further evidence of an association between the ApoE epsilon 4 and LOAD, and the BchE-k acts in synergy with the ApoE epsilon 4 as a susceptibility gene for AD.