JoVE Visualize What is visualize?
Stop Reading. Start Watching.
Advanced Search
Stop Reading. Start Watching.
Regular Search
Find video protocols related to scientific articles indexed in Pubmed.
Secondary Malignant Neoplasms after Osteosarcoma: Early Onset and Cumulative Alkylating Agent Dose Dependency.
Ann. Surg. Oncol.
PUBLISHED: 09-06-2014
Show Abstract
Hide Abstract
To analyze the impacts of chemotherapeutic agent exposures on the development of secondary malignant neoplasms (SMP) after osteosarcoma.
Related JoVE Video
Incidence and Survival of Pediatric Soft Tissue Sarcomas: Comparison between Adults and Children.
Cancer Res Treat
PUBLISHED: 08-21-2014
Show Abstract
Hide Abstract
Pediatric-type sarcomas such as rhabdomyosarcoma (RMS), Ewing sarcoma (EWS), primitive neuroectodermal tumor (PNET), and desmoplastic small round-cell tumor (DSRCT) are rare in adults, with limited studies on their prognosis and optimal treatment strategies. We aimed to examine the outcome of children and adult patients with RMS, EWS, PNET, and DSRCT and relevant prognostic factors.
Related JoVE Video
Phase II gemcitabine and capecitabine combination therapy in recurrent or metastatic breast cancer patients pretreated with anthracycline and taxane.
Cancer Chemother. Pharmacol.
PUBLISHED: 08-09-2014
Show Abstract
Hide Abstract
We conducted a phase II study evaluating safety and efficacy of combination gemcitabine and capecitabine therapy for metastatic breast cancer patients following anthracycline and taxane treatment in Korea.
Related JoVE Video
Diffuse large B-cell lymphoma with histone H3 trimethylation at lysine 27: another poor prognostic phenotype independent of c-Myc/Bcl2 coexpression.
Hum. Pathol.
PUBLISHED: 07-23-2014
Show Abstract
Hide Abstract
Deregulation of histone H3 trimethylation at lysine 27 (H3K27me3) via aberration of the histone methyltransferase, enhancer of zeste homologue 2 (EZH2), is suggested to play a critical role in cancers including hematologic malignancies. In the present study, implications of H3K27me3 were investigated in diffuse large B-cell lymphoma (DLBCL) with respect to clinicopathological factors, especially in association with c-Myc/Bcl2 coexpression and germinal center B-like (GCB) or non-GCB subtype. By immunohistochemistry, a high level of H3K27me3 was observed in approximately one-third (35.3%, 79/224) of DLBCL cases, and this subset of cases was related to poor performance status (Eastern Cooperative Oncology Group scores ? 2) (P = .013), elevated lactate dehydrogenase level (P = .001), and a higher international prognostic index risk group (scores ?3) (P = .005). H3K27me3 level was significantly correlated with EZH2 expression (P = .004) and c-Myc protein expression (P = .003) but not correlated with c-Myc/Bcl2 coexpression or with GCB or non-GCB subtype. A high level of H3K27me3 was related to an inferior overall survival (P = .006) and was shown to be an independent prognostic factor for overall survival along with the higher international prognostic index risk group and c-Myc/Bcl2 coexpression. In conclusion, H3K27me3 was related to EZH2 and c-Myc expression, suggesting formation of a MYC-EZH2-H3K27me3 loop in a subgroup of DLBCL cases. H3K27me3 was associated with poor patient outcome and revealed as an independent predictor for overall survival of DLBCL patients. H3K27me3 in DLBCL may be another high-risk phenotype independent of the phenotype of c-Myc/Bcl2 coexpression or other known poor prognostic subgroups.
Related JoVE Video
PINCH-2 presents functional copy number variation and suppresses migration of colon cancer cells by paracrine activity.
Int. J. Cancer
PUBLISHED: 05-09-2014
Show Abstract
Hide Abstract
In recent years, characterization of cancer and its environment has become necessary. However, studies of the cancer microenvironment remain insufficient. Copy number variations (CNVs) occur in 40% of cancer-related genes, but few studies have reported the correlation between CNVs in morphologically normal tissues adjacent to cancer and cancer progression. In this study, we evaluated cancer cell migration and invasion according to the genetic differences between cancer tissues and their surrounding normal tissues. To study the field cancerization effect, we screened 89 systemic metastasis-related CNVs from morphologically normal tissues adjacent to colon cancers. Among these CNVs, LIM and senescent cell antigen-like domain 2 (PINCH-2) showed copy number amplification and upregulation of mRNA in the nonrelapsed group compared to the systemic relapse group. PINCH-2 expression in colon cancer cells was lower than that in normal epithelial colon cells at both the protein and mRNA levels. Suppression of PINCH-2 resulted in decreased formation of the PINCH-2-IPP (PINCH-2, integrin-linked kinase and ?-parvin) complex and reciprocally increased formation of the PINCH-1-IPP complex. Although PINCH-2 expression of survival pathway-related proteins (Akt and phospho-Akt) did not change upon suppression of PINCH-2 expression, cell migration-related proteins [matrix-metalloproteinase (MMP)-9 and -11] were upregulated through autocrine and paracrine activation. Thus, PINCH-2 participates in decreased systemic recurrence by competitively regulating IPP complex formation with PINCH-1, thereby suppressing autocrine and paracrine effects on motility in colon cancer. This genetic change in morphologically normal tissue suggests a field cancerization effect of the tumor microenvironment in cancer progression.
Related JoVE Video
Postoperative nomogram to predict the probability of metastasis in Enneking stage IIB extremity osteosarcoma.
BMC Cancer
PUBLISHED: 05-08-2014
Show Abstract
Hide Abstract
Metastasis is the most crucial prognostic factor in osteosarcoma. The goal of this study was to develop a new nomogram to predict the probability of metastasis in Enneking stage IIB extremity osteosarcoma after neoadjuvant chemotherapy and limb salvage surgery.
Related JoVE Video
The role and regulatory mechanism of 14-3-3 sigma in human breast cancer.
J Breast Cancer
PUBLISHED: 03-31-2014
Show Abstract
Hide Abstract
14-3-3 sigma (?) is considered to be an important tumor suppressor and decreased expression of the same has been reported in many malignant tumors by hypermethylation at its promoter or ubiquitin-mediated proteolysis by estrogen-responsive ring finger protein (Efp). In this study, we investigated the significance of 14-3-3 ? expression in human breast cancer and its regulatory mechanism.
Related JoVE Video
Monoclonal and polyclonal gammopathy measured by serum free light chain and immunofixation subdivide the clinical outcomes of diffuse large B-cell lymphoma according to molecular classification.
Ann. Hematol.
PUBLISHED: 03-22-2014
Show Abstract
Hide Abstract
Elevated serum free light chain (FLC) is known to be an adverse prognostic factor for diffuse large B-cell lymphoma (DLBCL). We hypothesized that monoclonal gammopathy (MG; elevated kappa [?] or lambda [?] FLC with an abnormal ?/? ratio or a positive IF [immunofixation]) and polyclonal gammopathy (PG; elevated ? and/or ? FLC with a normal ?/? ratio and a negative IF) would have different clinical outcome according to the molecular classification of DLBCL. In addition, MG would be a poor prognostic factor in patients with activated B-cell like type of DLBCL. Molecular classification of DLBCL, such as germinal center B-cell (GCB) type and non-GCB type, was performed according to the Hans algorithm. Among 175 newly diagnosed DLBCL patients, 96 (54.9 %) patients had an elevated FLC. MG and PG were observed in 34 and 68 patients, respectively. The 2-year overall survival (OS) and event-free survival (EFS) rates were 79.0 % and 71.6 %, respectively. In multivariate analysis, high-intermediate/high International Prognostic Index score and elevated FLC were significant for the OS (P?=?0.002, P?=?0.005, respectively) and EFS (P?
Related JoVE Video
Analysis of 22 Y chromosomal STR haplotypes and Y haplogroup distribution in Pathans of Pakistan.
Forensic Sci Int Genet
PUBLISHED: 03-03-2014
Show Abstract
Hide Abstract
We analyzed haplotypes for 22 Y chromosomal STRs (Y-STRs), including 17 Yfiler loci (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DY438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4) and five additional STRs (DYS388, DYS446, DYS447, DYS449 and DYS464), and Y chromosomal haplogroup distribution in 270 unrelated individuals from the Pathans residing in the Federally Administered Tribal Areas and the North-West Frontier Province of Pakistan using in-house multiplex PCR systems. Each Y-STR showed diversities ranging from 0.2506 to 0.8538, and the discriminatory capacity (DC) was 73.7% with 199 observed haplotypes using 17 Yfiler loci. By the addition of 5 Y-STRs to the Yfiler system, the DC was increased to 85.2% while showing 230 observed haplotypes. Among the additional 5 Y-STRs, DYS446, DYS447 and DYS449 were major contributors to enhancing discrimination. In the analysis of molecular variance, the Pathans of this study showed significant differences from other Pathan populations as well as neighboring population sets. In Y-SNP analysis, a total of 12 Y chromosomal haplogroups were observed and the most frequent haplogroup was R1a1a with 49.3% frequency. To obtain insights on the origin of Pathans, the network analysis was performed for the haplogroups G and Q observed from the Pathans and the Jewish population groups including Ashkenazim and Sephardim, but little support for a Jewish origin could be found. In the present study, we report Y-STR population data in Pathans of Pakistan, and we emphasize the need for adding additional markers to the commonly used 17 Yfiler loci to achieve more improved discriminatory capacity in a population with low genetic diversity.
Related JoVE Video
Characteristics of Cutaneous Lymphomas in Korea According to the New WHO-EORTC Classification: Report of a Nationwide Study.
Korean J Pathol
PUBLISHED: 01-16-2014
Show Abstract
Hide Abstract
Previously, cutaneous lymphomas were classified according to either the European Organization for the Research and Treatment of Cancer (EORTC) or the World Health Organization (WHO) classification paradigms. The aim of this study was to determine the relative frequency of Korean cutaneous lymphoma according to the new WHO-EORTC classification system.
Related JoVE Video
Therapeutic strategies for well-differentiated papillary mesothelioma of the peritoneum.
Jpn. J. Clin. Oncol.
PUBLISHED: 08-20-2013
Show Abstract
Hide Abstract
Well-differentiated papillary mesothelioma is an uncommon subtype of mesothelioma with a frequently indolent course, although it occasionally manifests in a more aggressive form. To establish a treatment strategy for this rare disease, we report the clinical characteristics and outcomes of 15 patients with well-differentiated papillary mesothelioma.
Related JoVE Video
A phase I study of everolimus and CHOP in newly diagnosed peripheral T-cell lymphomas.
Invest New Drugs
PUBLISHED: 07-11-2013
Show Abstract
Hide Abstract
We performed a phase I study to determine the dose and safety of everolimus as a combination chemotherapy in peripheral T-cell lymphoma (PTCL).
Related JoVE Video
Predictors of recurrence after thymoma resection.
Yonsei Med. J.
PUBLISHED: 05-28-2013
Show Abstract
Hide Abstract
Recurrence rate is considered a better measure of clinical outcomes after thymoma resection than overall survival due to the indolent behavior of thymomas. This study was designed to determine predictors of recurrence after thymoma resection.
Related JoVE Video
mtDNAprofiler: a Web application for the nomenclature and comparison of human mitochondrial DNA sequences.
J. Forensic Sci.
PUBLISHED: 05-17-2013
Show Abstract
Hide Abstract
Mitochondrial DNA (mtDNA) is a valuable tool in the fields of forensic, population, and medical genetics. However, recording and comparing mtDNA control region or entire genome sequences would be difficult if researchers are not familiar with mtDNA nomenclature conventions. Therefore, mtDNAprofiler, a Web application, was designed for the analysis and comparison of mtDNA sequences in a string format or as a list of mtDNA single-nucleotide polymorphisms (mtSNPs). mtDNAprofiler which comprises four mtDNA sequence-analysis tools (mtDNA nomenclature, mtDNA assembly, mtSNP conversion, and mtSNP concordance-check) supports not only the accurate analysis of mtDNA sequences via an automated nomenclature function, but also consistent management of mtSNP data via direct comparison and validity-check functions. Since mtDNAprofiler consists of four tools that are associated with key steps of mtDNA sequence analysis, mtDNAprofiler will be helpful for researchers working with mtDNA. mtDNAprofiler is freely available at http://mtprofiler.yonsei.ac.kr.
Related JoVE Video
Body fluid identification by integrated analysis of DNA methylation and body fluid-specific microbial DNA.
Int. J. Legal Med.
PUBLISHED: 04-30-2013
Show Abstract
Hide Abstract
Identification of body fluids found at crime scenes provides important information that can support a link between sample donors and actual criminal acts. Previous studies have reported that DNA methylation analysis at several tissue-specific differentially methylated regions (tDMRs) enables successful identification of semen, and the detection of certain bacterial DNA can allow for identification of saliva and vaginal fluid. In the present study, a method for detecting bacterial DNA was integrated into a previously reported multiplex methylation-sensitive restriction enzyme-polymerase chain reaction. The developed multiplex PCR was modified by the addition of a new semen-specific marker and by including amplicons for the 16S ribosomal RNA gene of saliva- and vaginal fluid-specific bacteria to improve the efficacy to detect a specific type of body fluid. Using the developed multiplex system, semen was distinguishable by unmethylation at the USP49, DACT1, and PFN3 tDMRs and by hypermethylation at L81528, and saliva could be identified by detection of saliva-specific bacteria, Veillonella atypica and/or Streptococcus salivarius. Additionally, vaginal fluid and menstrual blood were differentiated from other body fluids by hypomethylation at the PFN3 tDMR and the presence of vaginal fluid-specific bacteria, Lactobacillus crispatus and/or Lactobacillus gasseri. Because the developed multiplex system uses the same biological source of DNA for individual identification profiling and simultaneously analyses various types of body fluid in one PCR reaction, this method will facilitate more efficient body fluid identification in forensic casework.
Related JoVE Video
Application of the adjuvant! Online model to Korean breast cancer patients: an assessment of prognostic accuracy and development of an alternative prognostic tool.
Ann. Surg. Oncol.
PUBLISHED: 03-30-2013
Show Abstract
Hide Abstract
Adjuvant! Online (AOL) is a Web-accessible risk-assessment model that predicts the mortality and the benefits of adjuvant therapy for breast cancer.
Related JoVE Video
Calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of Hirschsprungs disease.
J. Pediatr. Surg.
PUBLISHED: 02-19-2013
Show Abstract
Hide Abstract
Identifying ganglion cells by rectal suction biopsy is a basic diagnostic tool for the diagnosis of Hirschsprungs disease (HD). However, the difficult interpretation of conventionally processed slides often necessitates ancillary staining methods. The aim of this study was to evaluate the usefulness of calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of HD.
Related JoVE Video
Modified midi- and mini-multiplex PCR systems for mitochondrial DNA control region sequence analysis in degraded samples.
J. Forensic Sci.
PUBLISHED: 02-13-2013
Show Abstract
Hide Abstract
Two multiplex polymerase chain reaction (PCR) systems (Midiplex and Miniplex) were developed for the amplification of the mitochondrial DNA (mtDNA) control region, and the efficiencies of the multiplexes for amplifying degraded DNA were validated using old skeletal remains. The Midiplex system consisted of two multiplex PCRs to amplify six overlapping amplicons ranging in length from 227 to 267 bp. The Miniplex system consisted of three multiplex PCRs to amplify 10 overlapping short amplicons ranging in length from 142 to 185 bp. Most mtDNA control region sequences of several 60-year-old and 400-500-year-old skeletal remains were successfully obtained using both PCR systems and consistent with those previously obtained by monoplex amplification. The multiplex system consisting of smaller amplicons is effective for mtDNA sequence analyses of ancient and forensic degraded samples, saving time, cost, and the amount of DNA sample consumed during analysis.
Related JoVE Video
Population data for 30 insertion-deletion markers in a Korean population.
Int. J. Legal Med.
PUBLISHED: 01-23-2013
Show Abstract
Hide Abstract
This study reports on the forensic parameters of 30 insertion-deletion polymorphisms (Indels) (Investigator DIPplex® kit) in 100 individuals from a Korean population. The match probability ranged from 0.353 to 0.789, and the combined power of discrimination reached 0.99999999995. The DIPplex® kit is more discriminative in Koreans than six COfiler® short tandem repeats (STRs), but less discriminative than nine Profiler Plus® STRs. This study further demonstrated that some Indels in the DIPplex® kit could be used as Asian ancestry informative markers through a comparison with other population data.
Related JoVE Video
Potential forensic application of DNA methylation profiling to body fluid identification.
Int. J. Legal Med.
PUBLISHED: 03-23-2011
Show Abstract
Hide Abstract
DNA analysis of various body fluid stains at crime scenes facilitates the identification of individuals but does not currently determine the type and origin of the biological material. Recent advances in whole genome epigenetic analysis indicate that chromosome pieces called tDMRs (tissue-specific differentially methylated regions) show different DNA methylation profiles according to the type of cell or tissue. We examined the potential of tissue-specific differential DNA methylation for body fluid identification. Five tDMRs for the genes DACT1, USP49, HOXA4, PFN3, and PRMT2 were selected, and DNA methylation profiles for these tDMRs were produced by bisulfite sequencing using pooled DNA from blood, saliva, semen, menstrual blood, and vaginal fluid. The tDMRs for DACT1 and USP49 showed semen-specific hypomethylation, and the tDMRs for HOXA4, PFN3, and PRMT2 displayed varying degrees of methylation according to the type of body fluid. Preliminary tests using methylation-specific PCR for the DACT1 and USP49 tDMRs showed that these two markers could be used successfully to identify semen samples including sperm cells. Body fluid-specific differential DNA methylation may be a promising indicator for body fluid identification. Because DNA methylation profiling uses the same biological source of DNA for individual identification profiling, the determination of more body fluid-specific tDMRs and the development of convenient tDMR analysis methods will facilitate the broad implementation of body fluid identification in forensic casework.
Related JoVE Video
Breast cancers presenting luminal B subtype features show higher discordant human epidermal growth factor receptor 2 results between immunohistochemistry and fluorescence in situ hybridization.
Cancer
PUBLISHED: 03-16-2011
Show Abstract
Hide Abstract
The aims of this study were to compare human epidermal growth factor receptor 2 (HER2) results between immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH), and to investigate the clinicopathological characteristics and outcomes according to their results.
Related JoVE Video
Role of F-FDG PET Scans in Patients with Helicobacter pylori-Infected Gastric Low-Grade MALT Lymphoma.
Gut Liver
PUBLISHED: 01-25-2011
Show Abstract
Hide Abstract
Endoscopic ultrasound (EUS) plays a crucial role in the assessment and treatment of low-grade gastric mucosa-associated lymphoid tissue (MALT) lymphoma; however, interobserver variation, inadequate accuracy in judging the depth of tumor invasion, and histological heterogeneity of the tumor can limit its role. Thus, we have assessed the role of (18)F-FDG PET scans in the management of Helicobacter pylori-infected gastric MALT lymphoma.
Related JoVE Video
Rapid direct PCR for ABO blood typing.
J. Forensic Sci.
PUBLISHED: 10-19-2010
Show Abstract
Hide Abstract
Many different molecular typing methods have been reported to complement routine serological ABO blood typing in forensics. However, these ABO genotyping methods are often time-consuming and call for an initial DNA isolation step that requires the use of expensive kits or reagents. We report here a rapid direct ABO genotyping method that eliminates the need for DNA extraction from fresh blood, hair, and body fluid stains before PCR. Using a fast PCR instrument and an optimized polymerase, the genotyping method-which employs a multiplex allele-specific primer set for the simultaneous detection of three single-nucleotide polymorphism (SNP) sites (nucleotides 261, 526, and 803)-identifies A, B, O01/O02, O03, and cis-AB01 alleles in around 70 min from sample collection to electropherogram. Not only will this ABO genotyping method be efficiently used in forensic practice for rapid screening of samples before full-blown multilocus short tandem repeat profiling, but it will also demonstrate an example of rapid direct genotyping of SNPs that offers the advantages of time- and cost-efficiency, convenience, and reduced contamination during DNA analysis.
Related JoVE Video
Forensic and genetic characterization of mtDNA from Pathans of Pakistan.
Int. J. Legal Med.
PUBLISHED: 10-08-2010
Show Abstract
Hide Abstract
Complete mitochondrial control region data were generated for 230 unrelated Pathans from North West Frontier Province and Federally Administered Tribal Areas of Pakistan. To confirm data quality and to explore the genetic structure of Pathans, mitochondrial DNA haplogroup affiliation was determined by shared haplogroup-specific polymorphisms in the control region and by the analysis of diagnostic coding region single-nucleotide polymorphisms using a multiplex system for the assignment of eight haplogroups: M, N15, W, R, R0, T, J, and U. Sequence comparison revealed that 193 haplotypes were defined by 215 variable sites when major insertions were ignored at nucleotide positions 16193, 309, and 573. From a phylogenetic perspective, Pathans have a heterogeneous origin, displaying a high percentage of West Eurasian haplogroups followed by haplogroups native to South Asia and a small fraction from East Asian lineages. In population comparisons, this ethnic group differed significantly from several other ethnic groups from Pakistan and surrounding countries. These results suggest that frequency estimates for mtDNA haplotypes should be determined for endogamous ethnic groups individually instead of pooling data for these subpopulations into a single dataset for the Pakistani population. Data presented here may contribute to the accuracy of forensic mtDNA comparisons in the Pathans of Pakistan.
Related JoVE Video
Genome-wide molecular characterization of mucinous colorectal adenocarcinoma using cDNA microarray analysis.
Oncol. Rep.
PUBLISHED: 09-09-2010
Show Abstract
Hide Abstract
Mucinous colorectal carcinoma exhibits distinct clinicopathological features compared to non-mucinous colorectal carcinoma. Previous studies have discovered several molecular genetic features in mucinous colorectal carcinomas, but have limitations as they are confined to a small number of molecules. To understand the mucinous colorectal carcinoma system, this study was designed to identify genes that are differentially expressed in mucinous colorectal carcinoma compared to non-mucinous colorectal carcinoma using cDNA microarrays. cDNA microarray experiments were performed using human cDNA 17k chips with 25 mucinous and 27 non-mucinous cancer tissues. Differentially expressed genes (DEGs) were determined by Welchs t-test and more accurate classifiers were selected from the DEGs using the prediction analysis for microarrays (PAM) software package. Array results were validated using quantitative real-time RT-PCR. The identified gene set was functionally investigated through in silico analysis. Sixty-two DEGs were identified and the 50 highest ranking genes could be used to accurately classify mucinous and non-mucinous colorectal carcinomas. The identified gene set included up-regulated TFF1 (4-fold), AGR2 (3.3-fold), FSCN1 (2.2-fold), CD44 (1.5-fold) and down-regulated SLC26A3 (0.2-fold) in MC. TFF1, AGR2 and SLC26A3 were validated by quantitative real-time RT-PCR. The functions of these DEGs were related to tumorigenesis (14 genes), cell cycle progression (6 genes), invasion (2 genes), anti-apoptosis (7 genes), cell adhesion and proliferation (5 genes) and carbohydrate metabolism (3 genes). We suggest that MC has distinct molecular characteristics from NMC and therefore, that the expression signatures of DEGs may improve the understanding of molecular pathogenesis and clinical behaviors in MC.
Related JoVE Video
The clinical outcome of chemotherapy-induced amenorrhea in premenopausal young patients with breast cancer with long-term follow-up.
Ann. Surg. Oncol.
PUBLISHED: 06-19-2010
Show Abstract
Hide Abstract
We investigated the factors that predict chemotherapy-induced amenorrhea (CIA) and the prognostic significance of CIA after long-term follow-up.
Related JoVE Video
DNA typing for the identification of old skeletal remains from Korean War victims.
J. Forensic Sci.
PUBLISHED: 05-12-2010
Show Abstract
Hide Abstract
The identification of missing casualties of the Korean War (1950-1953) has been performed using mitochondrial DNA (mtDNA) profiles, but recent advances in DNA extraction techniques and approaches using smaller amplicons have significantly increased the possibility of obtaining DNA profiles from highly degraded skeletal remains. Therefore, 21 skeletal remains of Korean War victims and 24 samples from biological relatives of the supposed victims were selected based on circumstantial evidence and/or mtDNA-matching results and were analyzed to confirm the alleged relationship. Cumulative likelihood ratios were obtained from autosomal short tandem repeat, Y-chromosomal STR, and mtDNA-genotyping results, and mainly confirmed the alleged relationship with values over 10?. The present analysis emphasizes the value of mini- and Y-STR systems as well as an efficient DNA extraction method in DNA testing for the identification of old skeletal remains.
Related JoVE Video
A randomized phase 2 study of docetaxel and S-1 versus docetaxel and cisplatin in advanced gastric cancer with an evaluation of SPARC expression for personalized therapy.
Cancer
PUBLISHED: 05-05-2010
Show Abstract
Hide Abstract
The purpose of this study was to compare 2 weekly docetaxel-based regimens as first-line treatments for advanced gastric cancer and to investigate the expression of secreted protein acidic and rich in cysteine (SPARC) and its abilities to predict treatment-related clinical outcomes.
Related JoVE Video
Treatment outcome of localized Helicobacter pylori-negative low-grade gastric MALT lymphoma.
World J. Gastroenterol.
PUBLISHED: 05-05-2010
Show Abstract
Hide Abstract
To investigate treatment outcome of Helicobacter pylori (H. pylori)-negative low-grade gastric mucosa-associated lymphoid tissue (MALT) lymphoma.
Related JoVE Video
Effect of Helicobacter pylori infection on the sonic hedgehog signaling pathway in gastric cancer cells.
Oncol. Rep.
PUBLISHED: 04-30-2010
Show Abstract
Hide Abstract
This study aimed to investigate the effect of Helicobacter pylori (H. pylori) infection on the sonic Hedgehog (Shh) signaling in gastric cancer. Shh, Patched (Ptch), and transcription factor Gli1 were overexpressed in H. pylori-infected gastric cancer cells. The oncoprotein, CagA positive H. pylori resulted in significantly higher Shh expression. Pretreatment with MG-132 or PDTC significantly lowered Shh expression. Significant overexpression of Shh and Gli1 were noted in H. pylori-infected compared to non-infected gastric cancer tissues. Conclusively, H. pylori activated the Shh signaling pathway in CagA-dependent manner partly through the NF-kappaB pathway in gastric cancer cells.
Related JoVE Video
[Aplastic anemia with trisomy 8 and trisomy 9 in intestinal behcets disease].
Korean J Gastroenterol
PUBLISHED: 04-15-2010
Show Abstract
Hide Abstract
Behcets disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcets disease. There were only several reports about Behcets disease associated myelodysplatic syndrome worldwide. Moreover, aplastic anemia in intestinal Behcets disease was rarely reported. Here, we present a case of aplastic anemia with trisomy 8 and trisomy 9 in intestinal Behcets disease and a review of the literatures. To the authors knowledge, this is the first case ever reported in Korea.
Related JoVE Video
A phase I study of nimotuzumab in combination with radiotherapy in stages IIB-IV non-small cell lung cancer unsuitable for radical therapy: Korean results.
Lung Cancer
PUBLISHED: 04-05-2010
Show Abstract
Hide Abstract
This study was undertaken to determine safety and tolerability of nimotuzumab, a humanized anti-epidermal growth factor receptor monoclonal antibody, in combination with radiotherapy in stages IIB-IV non-small cell lung cancer (NSCLC) patients who are unsuitable for radical therapy or chemotherapy.
Related JoVE Video
Hepatoid carcinoma of the pancreas combined with neuroendocrine carcinoma.
Gut Liver
PUBLISHED: 03-25-2010
Show Abstract
Hide Abstract
Hepatoid carcinoma is a primary extrahepatic carcinoma whose morphology, immunohistochemistry, and behavior are similar to those of hepatocellular carcinoma. The most common sites of extrahepatic carcinoma are the stomach and ovary, but nine cases of hepatocellular differentiation of the pancreas have been reported in the literature. We report another case of hepatoid carcinoma of the pancreas that was associated with the development of a pancreatic endocrine carcinoma in a 46-year-old man. Serum alpha-fetoprotein (AFP) was elevated to 262.49 IU/mL and radiological examinations revealed a mass measuring 7.5 cm in diameter in the head of the pancreas. He underwent a conventional Whipple operation, and light microscopy showed adenocarcinoma that was immunopositive for AFP, hepatocyte antigen, cytokeratin, chromogranin, synaptophysin, and alpha-1 antichymotrypsin. Although hepatoid differentiation was not shown unequivocally histologically, other immunohistochemistry findings supported the diagnosis of hepatoid carcinoma combined with neuroendocrine carcinoma. The patient was healthy and had no evidence of recurrence at 4 months after the surgery. This report describes why hepatoid carcinoma should be considered as a differential diagnosis of a pancreatic mass, especially when serum AFP is elevated.
Related JoVE Video
A genetic investigation of Korean mummies from the Joseon Dynasty.
Mol. Biol. Rep.
PUBLISHED: 03-11-2010
Show Abstract
Hide Abstract
Two Korean mummies (Danwoong-mirra and Yoon-mirra) found in medieval tombs in the central region of the Korean peninsula were genetically investigated by analysis of mitochondrial DNA (mtDNA), Y-chromosomal short tandem repeat (Y-STR) and the ABO gene. Danwoong-mirra is a male child mummy and Yoon-mirra is a pregnant female mummy, dating back about 550 and 450 years, respectively. DNA was extracted from soft tissues or bones. mtDNA, Y-STR and the ABO gene were amplified using a small size amplicon strategy and were analyzed according to the criteria of ancient DNA analysis to ensure that authentic DNA typing results were obtained from these ancient samples. Analysis of mtDNA hypervariable region sequence and coding region single nucleotide polymorphism (SNP) information revealed that Danwoong-mirra and Yoon-mirra belong to the East Asian mtDNA haplogroups D4 and M7c, respectively. The Y-STRs were analyzed in the male child mummy (Danwoong-mirra) using the AmpFlSTR® Yfiler PCR Amplification Kit and an in-house Y-miniplex plus system, and could be characterized in 4 loci with small amplicon size. The analysis of ABO gene SNPs using multiplex single base extension methods revealed that the ABO blood types of Danwoong-mirra and Yoon-mirra are AO01 and AB, respectively. The small size amplicon strategy and the authentication process in the present study will be effectively applicable to future genetic analyses of various forensic and ancient samples.
Related JoVE Video
A report of cat scratch disease in Korea confirmed by PCR amplification of the 16S-23S rRNA intergenic region of Bartonella henselae.
Korean J Lab Med
PUBLISHED: 03-04-2010
Show Abstract
Hide Abstract
We report a case of cat scratch disease in an 8-yr-old girl who presented with fever and enlargement of both axillary lymph nodes. Both aerobic and anaerobic cultures of the lymph node aspirate were negative for microbial growth. Gram staining and Warthin-Starry silver staining did not reveal any organism. Purified DNA from the PCR-amplicon of the 16S-23S rRNA intergenic region was sequenced and showed 99.7% identity with the corresponding sequence of Bartonella henselae strain Houston-1. Our findings suggest that the internal transcribed spacer is a reliable region for PCR identification of Bartonella species. In patients with lymphadenitis, a history of contact with cats or dogs necessitates the use of diagnostic approaches that employ not only the conventional staining and culture but also molecular methods to detect B. henselae.
Related JoVE Video
Clinicopathological characteristics of mucinous carcinoma of the breast in Korea: comparison with invasive ductal carcinoma-not otherwise specified.
J. Korean Med. Sci.
PUBLISHED: 02-19-2010
Show Abstract
Hide Abstract
Clinicopathological characteristics and prognostic factors of mucinous carcinoma (MC) were compared with invasive ductal carcinoma-not otherwise specified (IDC-NOS). Clinicopathological characteristics and survivals of 104 MC patients were retrospectively reviewed and compared with those of 3,936 IDC-NOS. The median age at diagnosis was 45 yr in MC and 47 yr in IDC-NOS, respectively. The sensitivity of mammography and sonography for pure MC were 76.5% and 94.7%, respectively. MC showed favorable characteristics including less involvement of lymph node, lower stage, more expression of estrogen receptors, less HER-2 overexpression and differentiated grade, and better 10-yr disease-free survival (DFS) and overall survival (OS) (86.1% and 86.3%, respectively) than IDC-NOS (74.7% and 74.9%, respectively). Ten-year DFS of pure and mixed type was 90.2% and 68.8%, respectively. Nodal status and stage were statistically significant factors for survival. MC in Koreans showed similar features to Western populations except for a younger age of onset than in IDC-NOS. Since only pure MC showed better prognosis than IDC-NOS, it is important to differentiate mixed MC from pure MC. Middle-aged Korean women presenting breast symptoms should be examined carefully and evaluated with an appropriate diagnostic work-up because some patients present radiologically benign-like lesions.
Related JoVE Video
Simple and highly effective DNA extraction methods from old skeletal remains using silica columns.
Forensic Sci Int Genet
PUBLISHED: 01-19-2010
Show Abstract
Hide Abstract
The recovery of DNA data from old skeletal remains is often difficult due to degraded and very low yield of extracted DNA and the presence of PCR inhibitors. Herein, we compared several silica-based DNA extraction methods from artificially degraded DNA, DNA with PCR inhibitors and DNA from old skeletal remains using quantitative real-time PCR. We present a modified large-scale silica-based extraction combined with complete demineralization, that enables maximum DNA recovery and efficient elimination of PCR inhibitors. This is performed with high concentration of EDTA solution for demineralization of bone powder followed by QIAamp spin columns and buffers from the QIAquick PCR purification kit. We have successfully used this modified technique to perform STR analysis for 55-year-old skeletal remains. The results of this study will contribute to solve the forensic cases dealing with skeletal remains.
Related JoVE Video
Blockade of TGF-? by catheter-based local intravascular gene delivery does not alter the in-stent neointimal response, but enhances inflammation in pig coronary arteries.
Int. J. Cardiol.
PUBLISHED: 01-06-2010
Show Abstract
Hide Abstract
Extracellular matrix (ECM) accumulation significantly contributes to in-stent restenosis. In this regard, transforming growth factor (TGF)-?, a positive regulator of ECM deposition, may be implicated in in-stent restenosis. The goal of this study was to assess the effect of blockade of TGF-? on stent-induced restenosis in porcine coronary arteries.
Related JoVE Video
HER-2 protein overexpressing breast cancer without gene amplification shows higher hormone receptor expression than HER-2 protein overexpressing breast cancer with gene amplification.
Int. J. Surg. Pathol.
PUBLISHED: 08-10-2009
Show Abstract
Hide Abstract
Cases of breast cancer showing human epidermal growth factor receptor-2 (HER-2) protein overexpression without corresponding gene amplification have been found in immunohistochemistry (IHC) and fluorescent in situ hybridization (FISH) results. We investigated the clinicopathological characteristics of cases showing HER-2 protein overexpression breast cancer without gene amplification (IHC3+/FISH-) and compared them to cases showing HER-2 protein overexpression breast cancer with gene amplification (IHC3+/FISH+). This study was conducted on 90 patients with HER-2 IHC3+ breast cancer. The clinicopathological factors analyzed included tumor size, histological grade, nuclear grade, nodal involvement, and hormone receptor status. HER-2 IHC3+/FISH- breast cancer was found in 14 of 84 tumors (16.7%) and showed a statistically significant lower histological and nuclear grade (P = .000) and higher expression of estrogen receptors (ERs) and progesterone receptors (PRs) (P = .006) than IHC3+/FISH+ breast cancer. In conclusion, HER-2 IHC3+/FISH- breast cancer could be a subgroup showing lower histological/nuclear grade and higher expression of ERs/PRs.
Related JoVE Video
Increments of alpha-dystroglycan expression in liver metastasis correlate with poor survival in gastric cancer.
J Surg Oncol
PUBLISHED: 07-15-2009
Show Abstract
Hide Abstract
Dystroglycan (DG) is a recently focused adhesion molecule with possible roles in cancer development and progression. We investigated correlations between alpha-DG expression and prognosis in gastric carcinoma with liver metastasis.
Related JoVE Video
Population genetic study of four closely-linked X-STR trios in Koreans.
Mol. Biol. Rep.
PUBLISHED: 07-08-2009
Show Abstract
Hide Abstract
We investigated four X chromosomal short tandem repeat (X-STR) markers (DXS10079, DXS10103, DXS10146, and DXS10148) in 450 unrelated Koreans (300 males and 150 females), and evaluated their forensic usage in relation to the four X-STR linkage groups. Forensic statistical parameters for these X-STR markers indicated that they are highly informative for forensic application in Koreans. No significant deviations from Hardy-Weinberg equilibrium were observed in any of the four X-STR markers. In addition, we present haplotypes and their frequency data for four linkage groups each comprised of three X-STRs (DXS10148-DXS10135-DXS8378, DXS7132-DXS10079-DXS10074, DXS10103-HPRTB-DXS10101, and DXS10146-DXS10134-DXS7423) in 300 males. Haplotype diversity values in the four linkage trios were all higher than 0.98, and 77.1% of all haplotypes showed a frequency less than 0.01. Therefore, the four closely-linked X-STR trios will contribute to complex kinship testing in Koreans.
Related JoVE Video
Genetic polymorphism and haplotype analysis of 4 tightly linked X-STR duos in Koreans.
Croat. Med. J.
PUBLISHED: 05-30-2009
Show Abstract
Hide Abstract
To investigate genetic polymorphism and haplotypes of tightly linked X-chromosomal short tandem repeat (X-STR) clusters in Koreans.
Related JoVE Video
Concomitant isochromosome 17q and trisomy 14 in a patient with myelodysplastic syndrome in leukemic transformation.
Ann. Clin. Lab. Sci.
PUBLISHED: 05-12-2009
Show Abstract
Hide Abstract
We describe a novel case of simultaneous karyotypic abnormalities of isochromosome 17q and trisomy 14 in a patient with myelodysplastic syndrome (MDS) in leukemic transformation. A 66-yr-old Korean man was admitted to Severance Hospital for evaluation of pancytopenia. On the basis of bone marrow studies at 3 different stages, he was diagnosed with MDS in leukemic transformation. Chromosome karyotyping repeatedly showed the same main clonal abnormalities, including isochromosome 17q and trisomy 14. Isochromosome 17q and trisomy 14 have each been reported as rare, nonrandom recurrent chromosomal abnormalities in patients with MDS showing a poor prognosis. To our knowledge, this is the first report of concurrent i(17)(q10) and trisomy 14 in a patient with MDS in leukemic transformation.
Related JoVE Video
Clinical value of ezrin expression in primary osteosarcoma.
Cancer Res Treat
PUBLISHED: 04-16-2009
Show Abstract
Hide Abstract
Ezrin is a membrane cytoskeletal linker protein and it is known to be associated with metastasis of primary osteosarcoma. The aim of this study is to determine the relationship between an ezrin expression and several key clinical parameters and to elucidate its potential prognostic value for patients with osteosarcoma.
Related JoVE Video
Prediction of high-risk patients by genome-wide copy number alterations from remaining cancer after neoadjuvant chemotherapy and surgery.
Int. J. Oncol.
PUBLISHED: 02-13-2009
Show Abstract
Hide Abstract
In breast cancer, changes of gene copy number were analyzed by cDNA microarray-based comparative genome hybridization using post-treatment archived tissues. Genomic DNA was extracted from 45 surgical specimens after chemotherapy. Informative genes were selected by t-test and were statistically validated by prediction analysis using support vector machine in R package. Fluorescence in situ hybridization and quantitative PCR were performed for validation. We developed three clinical models: comparing good vs. poor prognosis (I), comparing good vs. poor prognosis among poor responders (II) and among good responders (III). 158 gene set (I) differentiated high and low risk of relapse group with 92% accuracy. 51 gene set (II) differentiated good and poor prognosis subgroups among poor responders with 99.9% accuracy. 32 gene set (III) differentiated good and poor prognosis subgroups among good responders with 96% accuracy. This approach has potential applications in the identification of high risk of recurrence after neoadjuvant chemotherapy and surgery.
Related JoVE Video
Vulvar lipomas in children: an analysis of 7 cases.
J. Pediatr. Surg.
PUBLISHED: 02-11-2009
Show Abstract
Hide Abstract
Vulvar lipomas are a type of rare benign soft tissue tumor. This study describes 7 cases of vulvar lipomas in children, and it evaluates the clinical characteristics of this disease.
Related JoVE Video
Pediatric mucosa-associated lymphoid tissue (MALT) lymphoma of lip: a case report and literature review.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
PUBLISHED: 01-04-2009
Show Abstract
Hide Abstract
Mucosa-associated lymphoid tissue (MALT) lymphoma is listed in the new World Health Organization classification as extranodal marginal zone B-cell lymphoma of MALT. Most cases occur predominantly in adults and are rare in children or adolescents. We report, with a review of earlier literature, a MALT lymphoma of the lower lip in a 7-year-old immunocompetent child. The patient had a sessile, indurated, and firm mass on the lower lip without regional lymphadenopathy. Microscopically, dense lymphoid cell infiltrates composed of small- to medium-sized centrocyte-like cells and plasmacytoid cells infiltrating around scattered reactive germinal centers were observed, with formation of typical lymphoepithelial lesions. Immunohistochemical staining demonstrated positivity of atypical lymphoid cells for CD20, CD43, CD79a, and Bcl-2 and negativity for CD3, CD5, CD10, CD23, Ki-1, Bcl-10, and ALK. Cytoplasmic kappa light chain restriction was demonstrated. We conclude that this case represents the youngest patient with a MALT lymphoma of the lip.
Related JoVE Video
Rosai-Dorfman Disease in the breast with increased IgG4 expressing plasma cells: a case report.
Korean J Pathol
Show Abstract
Hide Abstract
Rosai-Dorfman disease (RDD) can present in any anatomic site, but breast involvement is rarely reported. Recently, a relationship between RDD and IgG4-related sclerosing disease has been suggested. Here we report another case of RDD with overlapping features of IgG4-related sclerosing disease occurring in a right breast of a 62-year-old female. On microscopic examination, the mass demonstrated a characteristic zonal pattern of proliferation of large polygonal histiocytes and lymphoplasma cells with stromal fibrosis. Emperipolesis was observed in histiocytes with abundant cytoplasm, which showed immunoreactivity for S-100 protein and CD68; the diagnosis of RDD was made. Sheets of plasma cells in the fibrotic stroma demonstrated positive reactions for IgG and IgG4. The mean count of IgG4-positive plasma cells was 100.2/high power field, and the ratio of IgG4/IgG was 56.7%. Additional findings of stromal fibrosis and obliteration of preexisting breast lobules suggested overlapping features with IgG4-related sclerosing disease.
Related JoVE Video
Body fluid identification in forensics.
BMB Rep
Show Abstract
Hide Abstract
Determination of the type and origin of the body fluids found at a crime scene can give important insights into crime scene reconstruction by supporting a link between sample donors and actual criminal acts. For more than a century, numerous types of body fluid identification methods have been developed, such as chemical tests, immunological tests, protein catalytic activity tests, spectroscopic methods and microscopy. However, these conventional body fluid identification methods are mostly presumptive, and are carried out for only one body fluid at a time. Therefore, the use of a molecular genetics-based approach using RNA profiling or DNA methylation detection has been recently proposed to supplant conventional body fluid identification methods. Several RNA markers and tDMRs (tissue-specific differentially methylated regions) which are specific to forensically relevant body fluids have been identified, and their specificities and sensitivities have been tested using various samples. In this review, we provide an overview of the present knowledge and the most recent developments in forensic body fluid identification and discuss its possible practical application to forensic casework.
Related JoVE Video
A one step multiplex PCR assay for rapid screening of East Asian mtDNA haplogroups on forensic samples.
Leg Med (Tokyo)
Show Abstract
Hide Abstract
The mitochondrial DNA (mtDNA) haplogroup typing has become an essential tool to study human evolutionary history and to infer the matrilineal bio-geographic ancestry. In forensic field, the screening of mtDNA haplogroups by genotyping of mtDNA single nucleotide polymorphisms (SNPs) can help guarantee the quality of mtDNA sequence data as well as can reduce the need to sequence samples that do not match. Here, a multiplex mutagenically separated (MS) polymerase chain reaction (PCR) system was developed for simultaneous rapid detection of 14 coding region SNPs and one deletion motif representing common mtDNA haplogroups of East Asia. The multiplex MS PCR system we developed has the advantage of being a one step procedure that requires only a single PCR amplification with allele-specific primers and allowing straightforward designation of haplogroups along the branches of the phylogenetic tree. Therefore, it would be a simple, rapid, and reliable detection method useful for large-scale screening of mtDNA variations to determine East Asian mtDNA haplogroups.
Related JoVE Video
Y-SNP miniplexes for East Asian Y-chromosomal haplogroup determination in degraded DNA.
Forensic Sci Int Genet
Show Abstract
Hide Abstract
Four multiplex PCR systems followed by single base extension reactions were developed to score 22 single nucleotide polymorphisms (SNPs) and identify the most frequent East Asian Y chromosome haplogroups. Select Y chromosome SNPs allowed hierarchical testing for almost all of the major East Asian haplogroups along the revised Y chromosome tree. The first multiplex consists of six SNPs defining world-wide major haplogroups (M145, RPS4Y(711), M89, M9, M214, and M175). The second multiplex includes six SNPs of subhaplogroup O (M119, P31, M95, SRY(465), 47z, and M122). The third multiplex contains six SNPs that subdivide the subhaplogroup O3 (M324, P201, M159, M7, M134, and M133). The fourth multiplex comprises four SNPs of subhaplogroup C (M217, M48, M407, and P53.1). The sizes of the PCR amplicons ranged from 70 to 100bp to facilitate their application to degraded forensic and ancient samples. Validation experiments demonstrated that the multiplexes were optimized for analysis of low template DNA and highly degraded DNA. In a test using DNA samples from 300 Korean males, 16 different Y chromosome haplogroups were identified; haplogroup O2b* was the most frequently observed (29.3%), followed by haplogroups C3 (xC3c, C3d, C3e) (16.0%) and O3a3c1 (11.0%). These multiplex sets will be useful tools for Y-chromosomal haplogroup determination in anthropological and forensic studies of East Asian populations.
Related JoVE Video
Bortezomib in combination with CHOP as first-line treatment for patients with stage III/IV peripheral T-cell lymphomas: a multicentre, single-arm, phase 2 trial.
Eur. J. Cancer
Show Abstract
Hide Abstract
We performed a phase II study to evaluate the efficacy of bortezomib in combination with CHOP (cyclophosphamide, doxorubicin, vincristine and prednisone) as first-line treatment for patients with stage III/IV peripheral T-cell lymphomas (PTCLs) based on our phase I study results.
Related JoVE Video
Clinical outcomes and prognosis of recurrent thymoma management.
J Thorac Oncol
Show Abstract
Hide Abstract
Clinical outcomes and prognosis of recurrent thymoma are not well known because of its rarity and indolent clinical course. This study was designed to determine the clinical outcomes and prognosis of recurrent thymoma.
Related JoVE Video
DNA methylation-specific multiplex assays for body fluid identification.
Int. J. Legal Med.
Show Abstract
Hide Abstract
Recent advances in whole-genome epigenetic analysis indicate that chromosome segments called tissue-specific differentially methylated regions (tDMRs) show different DNA methylation profiles according to cell or tissue type. Therefore, body fluid-specific differential DNA methylation is a promising indicator for body fluid identification. However, DNA methylation patterns are susceptible to change in response to environmental factors and aging. Therefore, we investigated age-related methylation changes in semen-specific tDMRs using body fluids from young and elderly men. After confirming the stability of the body fluid-specific DNA methylation profile over time, two different multiplex PCR systems were constructed using methylation-sensitive restriction enzyme PCR and methylation SNaPshot, in order to analyze the methylation status of specific CpG sites from the USP49, DACT1, PRMT2, and PFN3 tDMRs. Both multiplex systems could successfully identify semen with spermatozoa and could differentiate menstrual blood and vaginal fluids from blood and saliva. Although including more markers for body fluid identification might be necessary, this study adds to the support that body fluid identification by DNA methylation profiles could be a valuable tool for forensic analysis of body fluids.
Related JoVE Video
Understanding the Y chromosome variation in Korea--relevance of combined haplogroup and haplotype analyses.
Int. J. Legal Med.
Show Abstract
Hide Abstract
We performed a molecular characterization of Korean Y-chromosomal haplogroups using a combination of Y-chromosomal single nucleotide polymorphisms (Y-SNPs) and Y-chromosomal short tandem repeats (Y-STRs). In a test using DNA samples from 706 Korean males, a total of 19 different haplogroups were identified by 26 Y-SNPs including the newly redefined markers (PK4, KL2, and P164) in haplogroup O. When genotyping the SNPs, phylogenetic nonequivalence was found between SNPs M117 and M133, which define haplogroup O3a3c1 (O3a2c1a according to the updated tree of haplogroup O by Yan et al. (European Journal of Human Genetics 19:1013-1015, 2011)), suggesting that the position of the M133 marker should be corrected. We have shown that the haplotypes consisted of DYS392, DYS393, DYS437, DYS438, DYS448, and DYS388 loci, which exhibit a relatively lower mutation rate, can preserve phylogenetic information and hence can be used to roughly distinguish Y-chromosome haplogroups, whereas more rapidly mutating Y-STRs such as DYS449 and DYS458 are useful for differentiating male lineages. However, at the relatively rapidly mutating DYS447, DYS449, DYS458, and DYS464 loci, unusually short alleles and intermediate alleles with common sequence structures are informative for elucidating the substructure within the context of a particular haplogroup. In addition, some deletion mutations in the DYS385 flanking region and the null allele at DYS448 were associated with a single haplogroup background. These high-resolution haplogroup and haplotype data will improve our understanding of regional Y-chromosome variation or recent migration routes and will also help to infer haplogroup background or common ancestry.
Related JoVE Video
Cyclooxygenase-2 expression in proliferative Ki-67-positive breast cancers is associated with poor outcomes.
Breast Cancer Res. Treat.
Show Abstract
Hide Abstract
In order to investigate the implications of cyclooxygenase-2 (COX-2) expression in combination with Ki-67 on breast cancer outcomes, the COX-2 and Ki-67 expression levels and other clinicopathologic parameters were investigated in 861 breast cancers. Clinicopathological parameters and survival were investigated in association with the expression levels of both COX-2 and Ki-67 using univariate and multivariate analyses. COX-2 expression was positive in 493 (57.3%) of invasive tumors. COX-2 was associated with favorable markers, but was not related to survival outcome by itself. However, COX-2 in proliferative tumors [COX-2(+)/Ki-67(+)] were significantly associated with unfavorable factors and the worst survival, but COX-2 in non-proliferative tumors [COX-2(+)/Ki-67(-)] showed significantly favorable parameters and better outcomes. COX-2(-)/Ki-67(any) showed intermediate prognosis. The statistical significance was maintained in stage-matched and multivariate analyses. The results of present study suggest that COX-2 expression is a common event in breast cancers and may play in a different ways by the proliferation status of the tumor cells. Further studies should be carried out to verify the role of COX-2 by proliferative conditions of breast tumor cells.
Related JoVE Video
Higher expression of androgen receptor is a significant predictor for better endocrine-responsiveness in estrogen receptor-positive breast cancers.
Breast Cancer Res. Treat.
Show Abstract
Hide Abstract
The aim was to investigate the implications of androgen receptor (AR) expression levels on outcomes for estrogen receptor (ER)-positive tumors. Immunohistochemically AR levels were determined from tissue microarrays of 614 ER-positive patients who received adjuvant endocrine with or without chemotherapy between November 1999 and August 2005. Characteristics and survival were analyzed using a Chi-square test, Kaplan-Meier methods, and Coxs models. AR levels were categorized into 3 subgroups as follows: low, AR < 10%; intermediate, 10% ? AR < 50%; high, AR ? 50%. Low, intermediate, and high AR levels were observed in 29.0, 44.0, and 27.0% of patients, respectively. High AR was associated with smaller size, nodal uninvolvement, grade I/II tumor, higher progesterone receptor expression, and lower proliferation index. With a median follow-up of 70.9 months, the high AR subgroup showed better survival, and these associations were maintained in 119 patients who received endocrine therapy alone [hazard ratio (HR), 0.111; 95% CI, 0.013-0.961 for disease-free survival (DFS); HR, 0.135; 95% CI, 0.015-1.208 for overall survival (OS)]. No significant benefits from chemotherapy were demonstrated in the high AR subgroup; however, the benefit from chemotherapy was significant among 448 AR-intermediate or -low patients (HR, 2.679; 95% CI, 1.452-4.944 for DFS; HR, 3.371; 95% CI, 1.611-7.052 for OS). High AR is an independent prognostic factor and a significant predictor for better endocrine-responsiveness in ER-positive tumors. AR-low or -intermediate levels could give an additional indication for use of chemotherapy in ER-positive tumors.
Related JoVE Video

What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

How does it work?

We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

Video X seems to be unrelated to Abstract Y...

In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.