Until recently, since the Human Genome Project, the general view has been that the majority of the human genome is composed of junk DNA and has little or no selective advantage to the organism. Now we know that this conclusion is an oversimplification. In April 2003, the National Human Genome Research Institute (NHGRI) launched an international research consortium called Encyclopedia of DNA Elements (ENCODE) to uncover non-coding functional elements in the human genome. The result of this project has identified a set of new DNA regulatory elements, based on novel relationships among chromatin accessibility, histone modifications, nucleosome positioning, DNA methylation, transcription, and the occupancy of sequence-specific factors. The project gives us new insights into the organization and regulation of the human genome and epigenome. Here, we sought to summarize particular aspects of the ENCODE project and highlight the features and data that have recently been released. At the end of this review, we have summarized a case study we conducted using the ENCODE epigenome data.
Chromatin ; DNA ; DNA Methylation ; DNA, Intergenic ; Genome, Human ; Histones ; Human Genome Project ; Humans ; Imidazoles ; National Human Genome Research Institute (U.S.) ; Nitro Compounds ; Nucleosomes

No abstract available.

No abstract available.
Femur* ; Humans

PURPOSE: As the use of hormone replacement therapy for the menopausal women increases, some caution is advised, since there is an increased risk of breast cancer. Accordingly, the importance of regular mammography has been addressed. This cross-sectional study analyzed the effects of different hormone therapies on mammographic density. MATERIALS AND METHODS: Sixty-seven postemenopausal women who had completed one year of hormone therapy and had undergone follow-up mammography, were divided into two groups : Group I : continuous conjugated equine estrogen, 0.625 mg, plus continuous medroxyprogesterone acetate, 2.5 mg (n=48), Group II : continuous conjugated equine estrogen 0.625 mg (n=19). The mammograms were read by two radiologists. RESULTS: With regard to the radiologists involved, interobserver reliability (kappa) was 0.70 and intraobserver reliability (kappa) was 0.51 and 0.67. Before hormone therapy, factors related to decreased mammographic density were age and number of full term pregnancies (p<0.05). After one year of hormone therapy, body fat showed a significant increase (p<0.05), but in spite of this, increased mammographic density induced by hormone therapy remained significantly high (p<0.05). Compared with Group II, Group I showed a significant increase in mammographic density (p<0.05). In Group I, mammographic density increased from P2 to DY pattern in two cases, but there was no such change in Group II. CONCLUSION: The increase of mammographic density seen in Group II was much more significant statistically than that seen in Group I. The mammograms of women who have undergone continuous combined hormone therapy should therefore be interpreted very cautiously.
Adipose Tissue ; Breast Neoplasms ; Cross-Sectional Studies ; Estrogen Replacement Therapy* ; Estrogens* ; Female ; Follow-Up Studies ; Hormone Replacement Therapy ; Humans ; Mammography ; Medroxyprogesterone Acetate ; Pregnancy

It is not uncommon that an endoscopist should differentiate metastatic or invasive cancer to the colorectum from primary colorectal cancer with its endoscopic appearances. This study reviewed the endoscopic appearances of 7 patients who were proved to have metastatic or invasive cancers to the colorectum, both clinically and pathologically. The primary cancers were uterine cervix cancers in 3 patients, advanced gastric cancers in two, and prostatic cancer in one. The endoseopic appearances of metastatic or invasive cancer showed several characteristic features with regard to those of primary colorectal cancer, as follows. 1) Multiplicity of lesions 2) Nodular lesion with unaffected mucosa or with mild degree of erosions 3) Concentric defarmities with conical extremities and the absence of shelving margins 4) Inflammatroy lesions with mucosal hyperemia, erosion, ulceration, and bleeding, but without definite mass formation.
Cervix Uteri ; Colorectal Neoplasms ; Extremities ; Female ; Hemorrhage ; Humans ; Hyperemia ; Mucous Membrane ; Prostatic Neoplasms ; Stomach Neoplasms ; Ulcer

OBJECTIVE: Our purpose was to determine whether unexplained elevation in maternal serum human chorionic gonadotropin without abnormal elevation in matemal serum alpha-fetoprotein (MSAFP) in the second trimester may be associated with adverse pregnancy outcomes. METHODS: Between January 1997 and December 1997, we evaluated 906 pregnant women undergoing second trimester triple marker screening tests who delivered at our hospital. Multiple pregnancy, fetal anomaly, intrauterine fetal death before 20 completed weeks of gestational age, insulin dependent diabetes mellitus and maternal serum alpha-fetoprotein level greater than 2.0 multiple of the median (MoM) were excluded fiom the study. Seventy-two women with hCG level greater than 2.0 MoM were included in the study group while 809 women with hCG level less than 2.0 MoM served as the control group. Adverse pregnancy outcomes were obtained from hospital delivery records and neonatal records. Statistical analysis were performed by students t-test and chi square test. RESULTS: Women with unexplained elevation of human chorionic gonadotropin level showed increased risks for intrauterine growth retardation (P<0.01) and pregnancy induced hypertension (P<0.05). There were no significant differences between study and control groups with respect to preterm delivery, placental abruption, fetal anomaly and intrauterine fetal death. CONCLUSION: Unexplained elevation of human chorionic gonadotropin in the second trimester was associated with intrauterine growth retardation and pregnancy induced hypertension.
Abruptio Placentae ; alpha-Fetoproteins ; Chorionic Gonadotropin* ; Diabetes Mellitus ; Female ; Fetal Death ; Fetal Growth Retardation ; Gestational Age ; Humans ; Humans* ; Hypertension, Pregnancy-Induced ; Insulin ; Mass Screening ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, Second* ; Pregnancy, Multiple ; Pregnant Women

In order to observe the effect of coronary sinus occlusion on left ventricular function, coronary sinus was occluded for 2 minutes using Swan-Ganz catheter in 9 mongrel dogs. The change in gross findings of heart was observed, and coronary sinus pressure, LV pressure, LV dp/dt, and ECG were recorded throughout the experiment. The coronary sinus occlusion pressure(CSOP) rised slowly reaching to the plateau at the 32+/-6th beat and at 11.5+/-3.5 seconds after coronary sinus occlusion, with the pressure 95.4+/-24.7mmHg in systole and 35.9+/-21.3mmHg in end-diastole. End-diastolic CSOP was different significantly from LV end-diastolic pressure(LVEDP; 6.8+/-3.3mmHg). The veins of left ventricle were congested immediately after coronary sinus occlusion, followed by the dilation of coronary sinus and coronary arteries, and the dilation of left ventricle with visible decrease in its contractility. Above changes recovered slowly after the release of coronary sinus occlusion. LV peak systolic pressure, LV peak dp/dt, and LV peak negative dp/dt were decreased, and relaxation time constant was prolonged significantly 30 seconds after coronary sinus occlusion, and they recovered to those of preocclusion period 30 seconds after release of coronary sinus occlusion. LVEDP was increased significantly 30 seconds after coronary sinus occlusion and returned to that of preocclusion period immediately after release of coronary sinus occlusion. heart rate was decreased 1 minute after coronary sinus occlusion and returned to that of preocclusion period immediately after release of coronary sinus occlusion. As a result, there was significant difference between end-diastolic CSOP and LVEDP in the experiment with mongrel dogs, and it should be reevaluated to estimate LVEDP by end-diastolic CSOP in man. Left ventricular systolic and diastolic function was impaired transiently after coronary sinus occlusion lasting more than 30 seconds.
Animals ; Blood Pressure ; Catheters ; Coronary Sinus* ; Coronary Vessels ; Dogs ; Electrocardiography ; Estrogens, Conjugated (USP) ; Heart ; Heart Rate ; Heart Ventricles ; Relaxation ; Systole ; Veins ; Ventricular Function, Left*

No abstract available.
Lymphadenitis*

Although there are many controversies about clear-cut guidelines for blood transfusion, blood transfusions are critically important and essential in many emergency cases involving trauma to abdominal organs. However, occasionally there are certain situations in which blood transfusions cannot be made, despite clear indications for urgent blood transfusion based on clinical and laboratory findings. One is the case in which the patient refuses to receive a blood transfusion for reasons based on religious beliefs. We present a case of successful perioperative management without blood transfusion in a patient, a Jehovah's Witness, with a massive hemoperitoneum due to an injury caused by a motor vehicle accident.
Blood Transfusion* ; Emergencies ; Hemoperitoneum* ; Humans ; Motor Vehicles ; Religion

Genome-wide association studies have proven the highly polygenic architecture of complex diseases or traits; therefore, single-locus-based methods are usually unable to detect all involved loci, especially when individual loci exert small effects. Moreover, the majority of associated single-nucleotide polymorphisms resides in non-coding regions, making it difficult to understand their phenotypic contribution. In this work, we studied epistatic interactions associated with three common diseases using Korea Association Resource (KARE) data: type 2 diabetes mellitus (DM), hypertension (HT), and coronary artery disease (CAD). We showed that epistatic single-nucleotide polymorphisms (SNPs) were enriched in enhancers, as well as in DNase I footprints (the Encyclopedia of DNA Elements [ENCODE] Project Consortium 2012), which suggested that the disruption of the regulatory regions where transcription factors bind may be involved in the disease mechanism. Accordingly, to identify the genes affected by the SNPs, we employed whole-genome multiple-cell-type enhancer data which discovered using DNase I profiles and Cap Analysis Gene Expression (CAGE). Assigned genes were significantly enriched in known disease associated gene sets, which were explored based on the literature, suggesting that this approach is useful for detecting relevant affected genes. In our knowledge-based epistatic network, the three diseases share many associated genes and are also closely related with each other through many epistatic interactions. These findings elucidate the genetic basis of the close relationship between DM, HT, and CAD.
Coronary Artery Disease ; Deoxyribonuclease I ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; DNA ; Gene Expression ; Genome-Wide Association Study ; Hypertension ; Korea ; Polymorphism, Single Nucleotide ; Regulatory Sequences, Nucleic Acid ; Transcription Factors