The p53 gene is believed to play an important role through the mutation and overexpression in the progression of various human malignant tumors. The type IV collagenase (matrix metalloproteinase: MMP-2) initiates the degradation of the extracellular matrix, and consequently may play a role in the tumor invasion and metastasis. To investigate the correlation between clinicopathologic features of the colorectal adenocarcinomas and benign tumors and expression of p53 and MMP-2 proteins, we performed an immunohistochemical study on 40 colorectal adenocarcinomas, 20 adenomas and 20 hyperplastic polyps by using the antibodies to p53 and MMP-2 proteins. The positive expression rate of the p53 protein in adenocarcinomas was 62.5% and significantly higher than in benign tumors. The positive expression rate of the MMP-2 protein was 47.5% in adenocarcinomas, but there was no expression of MMP-2 protein in benign tumors. The difference in p53 and MMP-2 expression rates between malignant and non-malignant tumors was statistically significant. The positive expression rate of p53 protein in the non-metastatic and metastatic adenocarcinomas was 59.1 and 66.7%, respectively. The positive expression rate of MMP-2 protein in the non-metastatic and metastatic adencarcinomas was 45.5 and 50.0%, respectively. The correlation between several clinicopathologic features and expression of p53 and MMP-2 protein was not statistically significant, but the rate of positive MMP-2 immunoreactivity showed a statistically significant difference between Astler-Coller stage B1 C1 group and B2 C2 group of adenocarcinoma (p=0.0431). We concluded that the expression of p53 and MMP-2 protein contributes to the cancer development and MMP-2 may play a certain role in the invasiveness of the colorectal tumor. p53 and MMP-2 protein expression is not correlated with lymph node metastasis.
Adenocarcinoma* ; Adenoma ; Antibodies ; Collagenases ; Colorectal Neoplasms ; Extracellular Matrix ; Genes, p53 ; Humans ; Lymph Nodes ; Matrix Metalloproteinase 2* ; Neoplasm Metastasis ; Polyps

BACKGROUND AND OBJECTIVES: The relationship of cold pressor, hyperventilation and exercise test responses to circadian patterns and types of angina in vasospastic angina have still not been known. The aim of this study was to identify subgoups of patients who have similar clinical features and provocation test response. MATERIALS AND METHODS: Twenty-one consecutive patients with pure vasospastic angina were studied. Six exercise tests were performed in the early morning, late morning, and late afternoon in consecutive days, and 2 hyperventilation tests and 2 cold pressor tests in the early morning. Circadian distribution and types of angina(at rest, on physical activity or both) were evaluated by clinical history, clinical records and ambulatory ECG recordings during admission and follow-up periods(mean 19+/-9 months). RESULTS: Three patterns of circadian distribution of anginal attacks were identified during all observation periods together(morning and night: MN n=, morning and afternoon or evening: M+/E n=, morning, night and afternoon and/or evening: MN+/E n=1). Exercise test was positive in 36%(40/111) without circadian variation, hyperventilation test in 66%(23/35) and cold pressor test in 6%(2/33). Neither hyperventilation test nor cold pressor test was related to circadian patterns, types or activity of angina, or numbers of spastic artery. But positive exercise test increased significantly in patients with angina on physical activity(43% vs 21%, p<0.05), high activity(57% vs 18%, p<0.01), multivessel spasm(50% vs 27%, p<0.05 ) and circadian patterns of M+/E and MN+/E(29%, 55% vs 4%, p<0.05, p<0.01). All patients with MN had rest angina and single vessel spasm. All 6 patients with M+/E had angina both at rest and on physical activity and 5 single vessel spasm. Eight of 11 patients with MN+/E had angina both at rest and on physical activity and 8 multivessel spasm. CONCLUSION: These findings suggest that hyperventilation test is highly sensitive in vasospastic angina without any relationship to clinical features, but exercise test response is related well to circadian patterns of angina attacks which are associated with characteristic clinical features.
Arteries ; Electrocardiography ; Exercise Test ; Follow-Up Studies ; Humans ; Hyperventilation ; Motor Activity ; Muscle Spasticity ; Spasm

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

Kinship testing in forensic casework is largely based on a likelihood ratio (LR) approach with short tandem repeat (STR) markers; however, in order to efficiently identify potential relatives in a specific population, the threshold values for kinship prediction should be determined by analyzing the kinship index distributions of the population in question. In this study, 250,000 DNA profiles were simulated using allele frequencies at 20 autosomal STR loci in Koreans, then the LRs were calculated for true close relatives and unrelated pairs. The LR distributions in related and unrelated pairs under a given relationship were compared in 2 sets of 13 Combined DNA Index System (CODIS) and 20 STR profiles. Using 13 CODIS STRs, true relatives in parent/child and full-sibling relationships were sufficiently discriminated from unrelated pairs with LR thresholds of 1,000 and 100, respectively. However, the CODIS STRs lacked the discriminatory power to differentiate between related and unrelated pairs in uncle/nephew and first cousin relationships due to high false-positive and false-negative rates with a LR threshold of 10. Increasing the number of STR loci to 20 increased discrimination of close relatives, but high false results remained in uncle/nephew and first cousin relationships. The kinship index data from this study will help make decisions on various kinship testing and familial searching in Koreans.
Asian Continental Ancestry Group ; Discrimination (Psychology) ; DNA ; Gene Frequency ; Humans ; Microsatellite Repeats

The relationship between infective endocarditis and mycotic aneurysm formation appers clear : In about two to ten percent of patients with infective endocarditis harbor septic intracranial aneurysms. But the pathogenesis, natural course and management of these lesions remains controversial. Aggressive medical treatment of the underlying infected cardiac valve or surgical replacement therapy have significantly reduced the morbidity and mortality rates associated with infective endocarditis. Clinical predictors of mycotic aneurysm, especially neurologic prodromes prior to rupture have been ill-defined since most series contain few patients or include patients with infective aneurysms who have no infective endoarditis. Similarly there has been no consensus regarding the indications and timing of cerebral angiography in patients with infective endocarditis. We have experienced a case of cerebral mycotic aneurysm complicated with subarachnoid hemorrhage due to infective endocarditis in a 29 year-old female patient, who admitted to our hospital because of the pain and paralysis of sudden onset in right forearm, which was diagnosed by echocardiography, brain computed tomography and 4-vessel cerebral angiography. The patient died of sudden rupture of mycotic aneurysm in the 7th hospital day despite intensive medical treatment. We report one case of cerebral mycotic aneurysm with a brief of literature.
Adult ; Aneurysm ; Aneurysm, Infected* ; Brain ; Cerebral Angiography ; Consensus ; Echocardiography ; Endocarditis* ; Female ; Forearm ; Heart Valves ; Humans ; Intracranial Aneurysm ; Mortality ; Paralysis ; Rupture ; Subarachnoid Hemorrhage*

Although a lot of articles examining concomitant intrauterine and ectopic pregnancy have been presented, we have not found any reports on ectopic implantation of chorionic villi in the vagina with normal intrauterine pregnancy. We experienced a case of chorionic villi on the vaginal wall as a hemorrhagic mass during the second trimester of pregnancy. A pregnant woman (gestational age of 16 weeks and 1 day) visited our hospital due to vaginal bleeding. There was no abnormal finding except vaginal hemorrhagic mass, and the mass revealed a product of conception.
Chorion* ; Chorionic Villi* ; Female ; Fertilization ; Humans ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnancy* ; Pregnancy, Ectopic ; Pregnant Women ; Uterine Hemorrhage ; Vagina

Either increased cellular proliferation or decreased death might result in an expansion of their numbers in the oncogenic process. Cellular apoptosis represents an autonomous suicide pathway that helps to restrict the cell number. However bcl-2 and mutant p53 inhibit programmed cell death. To determine whether the bcl-2 gene is activated during colorectal tumorigenesis and whether it has any relationship with p53 and apoptosis, we studied the expression of bcl-2 and p53 in the normal colonic mucosa, in the adenomatous polyps and in the adenocarcinomas using the immunohistochemical method. Also we evaluated the status of apoptosis using the in situ end labeling method. The bcl-2 immunoreactivity was restricted to the basal epithelial cells of all normal colonic mucosa and they were expressed in all adenomas and 86% of adenocarcinomas, especially in the superficial lesion of some tumors. Mutations of p53 were not found in the normal colonic mucosa, but they were present in dysplastic cells of adenomas (52%) and in cancer cells of the adenocarcinomas (47%). Apoptosis was confined to the tips of the normal colonic mucosa. It was more easily detected in the p53-positive adenomas than in the p53-negative adenomas (p=0.010). In the adenocarcinomas, the findings of apoptotic process are not related with p53 mutation (p=0.3) and bcl-2 expression (p=0.187). p53 and bcl-2 are probably one step of several apoptotic processes in the adenocarcinomas.
Adenocarcinoma* ; Adenoma* ; Adenomatous Polyps ; Apoptosis* ; Carcinogenesis ; Cell Count ; Cell Death ; Cell Proliferation ; Colon ; Epithelial Cells ; Genes, bcl-2 ; Mucous Membrane ; Suicide

SPARC, secreted protein acidic and rich in cysteine, is a extracellular matrix-associated protein implicated in the modulation of cell adhesion, migration, cell cycle regulation, and angiogenesis. SPARC is expressed in fibrocytes and endothelial cells involved in tissue repair and invasive malignant tumors in the gastrointestinal tract, breast, lung, kidney, adrenal cortex, ovary, and brain. This study was aimed to characterize the different expression of SPARC in the thyroid follicular adenomas and follicular carcinomas. Immunohistochemical staining was performed in paraffin-embedded tissues of 25 follicular adenomas and 15 follicular carcinomas of the thyroid gland. Immunohistochemically, SPARC was not expressed in the 19 follicular adenoma and 2 follicular carcinoma but highly expressed in the 6 follicular adenoma and 13 follicular carcinoma. These findings suggest that SPARC is a potential diagnostic marker of follicular carcinoma and is helpful to distinguish follicular carcinoma from follicular adenoma without vascular or capsular invasion.
Adenoma* ; Adrenal Cortex ; Brain ; Breast ; Cell Adhesion ; Cell Movement ; Cysteine ; Endothelial Cells ; Female ; Gastrointestinal Tract ; Kidney ; Lung ; Ovary ; Thyroid Gland*

The trichofolliculoma is a rare tumor of the hair follicle occuring most often on the head and neck. We have experienced a case of 24-year-old female who had a small, dome-shaped, tan brown firm nodule on the nose. Under the clinical impression of a granuloma, an excisional biopsy of the nodule was done. Microscopically the lesion was composed of a large central cystic hair follicle with many srhall but well differenciated secondary hair follicles branching from the wall. Well developed secondary hair follicles were often grouped and were surrounded by a prominent stroma.
Female ; Humans ; Biopsy

Agenesis of the dorsal pancreas is one of the rare congenital anomalies of the pancreas. Six cases of them have been reported. We have experienced an autopsy case of agenesis of the dorsal pancreas associated with fetal death in the uterus. Grossly, the body and tail of the pancreas and uncinate process were not found and those were partially replaced by adipose tissue. No abnormality was noted in the other organs. Microscopically, pancreatic tissue with autolytic change was identified only in the head portion of the pancreas.