Human genetic variation is represented by the genetic differences both within and among populations, and most genetic variants do not cause overt diseases but contribute to disease susceptibility and influence drug response. During the last century, various genetic variants, such as copy number variations (CNVs), have been associated with diverse human disorders. Here, we review studies on the associations between CNVs and autoimmune diseases to gain some insight. First, some CNV loci are commonly implicated in various autoimmune diseases, such as Fcgamma receptors in patients with systemic lupus erythemoatosus or idiopathic thrombocytopenic purpura and beta-defensin genes in patients with psoriasis or Crohn's disease. This means that when a CNV locus is associated with a particular autoimmune disease, we should examine its potential associations with other diseases. Second, interpopulation or interethnic differences in the effects of CNVs on phenotypes exist, including disease susceptibility, and evidence suggests that CNVs are important to understand susceptibility to and pathogenesis of autoimmune diseases. However, many findings need to be replicated in independent populations and different ethnic groups. The validity and reliability of detecting CNVs will improve quickly as genotyping technology advances, which will support the required replication.
Animals ; Autoimmune Diseases/ethnology/*genetics/immunology ; Autoimmunity/*genetics ; *DNA Copy Number Variations ; *Gene Dosage ; Genetic Association Studies ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Phenotype ; Population Groups/genetics ; Risk Factors

BACKGROUND: Human epidermal growth factor receptor 2 (HER2) is one of the known oncogenes in urothelial carcinoma. However, the association between HER2 and the prognosis of upper urinary tract urothelial carcinoma (UUTUC) has not yet been fully clarified. The aim of this study was to evaluate HER2 expression using the United States Food and Drug Administration (FDA) criteria and American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) criteria and compare their prognostic significance in UUTUC. METHODS: HER2 expression was evaluated in 144 cases of UUTUC by immunohistochemistry (IHC) using tissue microarrays. We separately analyzed HER2 expression using the FDA and ASCO/CAP criteria. The IHC results were categorized into low (0, 1+) and high (2+, 3+) groups. RESULTS: Using the FDA criteria, 94 cases were negative, 38 cases were 1+, nine cases were 2+, and three cases were 3+. Using the ASCO/CAP criteria, 94 cases were negative, 34 cases were 1+, 13 cases were 2+, and three cases were 3+. Four cases showing 2+ according to the ASCO/CAP criteria were reclassified as 1+ by the FDA criteria. High HER2 expression by both the FDA criteria and ASCO/CAP criteria was significantly associated with International Society of Urological Pathology high grade (p = .001 and p < .001). The high HER2 expression group classified with the FDA criteria showed significantly shorter cancer-specific survival (p = .004), but the HER2 high and low expression groups classified with the ASCO/CAP criteria did not show significant differences (p = .161) in cancer-specific survival. CONCLUSIONS: HER2 high expression groups were significantly associated with shorter cancer-specific survival, and our study revealed that the FDA criteria are more suitable for determining HER2 expression in UUTUC.
Humans ; Immunohistochemistry* ; Oncogenes ; Pathology ; Prognosis ; Receptor, Epidermal Growth Factor ; United States Food and Drug Administration ; Urinary Tract*

OBJECTIVE: We applied a program of sleep education and hypnotics reduction for inpatients (the i-sleep program). This study explored whether the i-sleep program is effective for reducing the prescription rate of sleeping pills to inpatients in a general hospital. METHODS: We estimated the proportion of inpatients prescribed hypnotics at admission to and discharge from the hospital, excluding pediatric care units, before (2014) and after (2015) the program. In addition, we estimated the proportion of inpatients prescribed sleeping pills among all inpatients on the first day of each month of 2014 and 2015. RESULTS: The proportion of inpatients prescribed hypnotics as discharge medication among inpatients who had been prescribed them at the time of admission decreased significantly, from 57.0% to 46.8%, after the i-sleep program (RR=0.82, 95% CI: 0.79–0.86). The proportion of inpatients newly prescribed sleeping pills after admission to the hospital did not significantly decrease (1.97% to 2.00%; RR=1.01, 95% CI: 0.96–1.07). The mean prescription rate of sleeping pills per day was 8.18% in 2014 and 7.78% in 2015. CONCLUSION: The i-sleep program reduced the proportion of inpatients who continued to take sleeping pills from admission until discharge, although it did't reduce the prescription rate per day.
Education ; Hospitals, General ; Humans ; Hypnotics and Sedatives ; Inpatients ; Prescriptions ; Sleep Initiation and Maintenance Disorders

There are several advantages for groin flap, but its small and unpredictable vessels of pedicle have made it to lose its initial popularity. Although it would be ideal flap when it is focused on its useful advantages such as relative larger size, low donor site morbidity and possible bone graft, there have been few studies for prognostic factors for successful groin flap. Authors intended to determine prognostic factors which are relative with success of free groin flap. From January 1985 to December 2007, 107 patients who underwent groin flap for reconstruction of extremities were selected consecutively. Univariate and multivariate analysis were performed to determine prognostic factors which were related with success of groin flap. Eighty of 107 (74.8%) flaps survived. There was significant difference in success rate according to the recipient site. Nineteen of 20 cases (95%) survived in upper extremities, but 61 of 87 cases (70.1%) survived in lower extremities, which was statistically significant (p=0.022). Univariate analysis showed that mean diameter of donor veins was significantly larger in success group (p=0.021). Groin flap is recommended for reconstruction of upper extremities than lower extremities. It is thought to be critical that surgeons try to match vessel diameters between donor and recipient site.
Extremities ; Glycosaminoglycans ; Groin ; Humans ; Lower Extremity ; Multivariate Analysis ; Tissue Donors ; Transplants ; Upper Extremity ; Veins

OBJECTIVE: We investigated low dose digital tomosynthesis (DT) for the evaluation of the paranasal sinus (PNS), and compared its diagnostic accuracy with a PNS radiography series (XR). MATERIALS AND METHODS: We enrolled 43 patients for whom XR, PNS DT, and OMU CT were performed. We measured effective doses (EDs) of XR, DT, and OMU CT using Monte Carlo simulation software. Two radiologists performed independent observation of both XR and DT. For seven PNSs, they scored anatomic conspicuity of sinuses and confidence on the presence of sinusitis using nine point scales. OMU CT was observed by the third radiologist and the findings were regarded as reference standard. We compared scores for conspicuity and sinusitis confidence between XR and DT. RESULTS: Mean EDs were 29 +/- 6 microSv, 48 +/- 10 microSv, and 980 +/- 250 microSv, respectively, for XR, DT, and CT. Mean scores for conspicuity were 6.3 and 7.4, respectively, for XR and DT. Sensitivity per patient basis for sinusitis detection were 52% and 96%, respectively, for XR and DT in observer 1 (p = 0.001) and 80% and 92% for observer 2 (p = 0.25). Specificities for sinusitis exclusion were 100% for both XR and DT for observer 1 and 89% and 100% for observer 2 (p = 0.50). Accuracies for sinusitis diagnosis were 72% and 98%, respectively, for XR and DT for observer 1 (p = 0.001) and 84% and 95% for observer 2 (p = 0.125). CONCLUSION: Patient radiation dose from low dose DT is comparable with that of PNS XR. Diagnostic sensitivity of DT for sinusitis was superior to PNS XR.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Monte Carlo Method ; Paranasal Sinuses/*radiography ; ROC Curve ; Radiation Dosage ; Radiographic Image Enhancement/*methods ; Sensitivity and Specificity ; Sinusitis/*radiography ; Statistics, Nonparametric ; Tomography, X-Ray Computed/*methods

OBJECTIVE: Among the various psychiatric disorders, depression is a common comorbid condition in cancer patients. Due to the distinct and diverse nature of cancer, the prevalence of depression may be assumed to be affected by differences in primary cancer sites. In this study, we explored the prevalence rates of depression among the ten most prevalent cancers in South Korea using a national patient sample. METHODS: This was a 1-year cross-sectional study using a national patient sample provided by the South Korean National Health Insurance in 2011. We selected all patients who had received ICD-10 codes of the 10 most prevalent cancers and major depressive disorder. Afterwards, the cancer and depression groups were merged and analyzed. RESULTS: The MDD prevalence rate was highest in lung cancer (11.0%), followed by non-Hodgkin's lymphoma (9.2%), prostate (9.1%), bladder (8.8%), breast (7.8%), cervix (7.8%), colorectal (7.7%), stomach (6.9%), liver (6.5%), and thyroid cancer (5.6%). Within all cancer groups, patients with a MDD diagnosis were significantly older (p<0.05) than non-MDD patients. Colorectal, stomach, and thyroid cancer displayed a higher female proportion in the MDD group than the non-MDD group. In the subgroup analysis, the prevalence rate differed by age and sex. CONCLUSION: The prevalence of depression varied according to cancer types. Patients with lung cancer were the most prone to experience depression. Because clinical and psychological factors may influence MDD prevalence, these factors will need to be studied more closely in the future.
Breast ; Cervix Uteri ; Cross-Sectional Studies ; Depression* ; Depressive Disorder, Major ; Diagnosis ; Epidemiology ; Female ; Humans ; International Classification of Diseases ; Korea* ; Liver ; Lung Neoplasms ; Lymphoma, Non-Hodgkin ; National Health Programs ; Prevalence* ; Prostate ; Psychology ; Stomach ; Thyroid Neoplasms ; Urinary Bladder

Endovascular abdominal aortic aneurysm repair is a safe, durable, and effective procedure. However, complications could occur with stent graft devices. When the renal ostia become obstructed by this device, renovascular hypertension may result. In general, renal artery occlusion secondary to stent graft impingement remains uncommon. We herein describe a patient with renal atrophy, new-onset hypertension, and elevated serum renin and aldosterone levels following endovascular aneurysm repair. Blood pressure and the levels of renin and aldosterone were normalized by renal artery stenting.
Aldosterone ; Aneurysm ; Aortic Aneurysm ; Aortic Aneurysm, Abdominal* ; Atrophy ; Blood Pressure ; Blood Vessel Prosthesis ; Endovascular Procedures ; Humans ; Hypertension ; Hypertension, Renovascular ; Renal Artery Obstruction ; Renal Artery* ; Renin ; Stents

BACKGROUND: An unhealthy lifestyle is the most important cause of lifestyle-induced illness (diabetes, hypertension, liver enzyme abnormality, dyslipidemia etc.). This study was carried out to evaluate that relation between employees' lifestyle and their health status in a Korean electronic research and development company. METHODS: We conducted a descriptive cross-sectional survey. 3,041 consecutive workers in a Korean R&D company were enrolled in this study. A checkup list for the health examination (from the National Health Insurance Coperation), which contained the information on the lifestyle, and the results of the health examination, which contained information on the body mass index (BMI), systolic blood pressure (SBP), and diastolic blood pressure (DBP), and liver function tests (LFT, AST, ALT, gamma-GTP) and cholesterol profiles (total cholesterol, TG, HDL, LDL) were done for all the subjects. We evaluated the health profile as normal or abnormal. Statistical analysis of the health profiles and the lifestyle of the employees' was performing by using multiple logistic regression analysis. RESULTS: The prevalence of 'excessive alcohol drinking' was 52.9% (n=1,610), that for 'lack of exercise' was 86.2% (n=2,662), that for 'meat eating' 12.2% (n=370) and that for 'current smoker' was 31.3% (n=952). According to results of health examination, the prevalence of obesity was 27.1% (n=824), hypertension was 7.1% (n=215), diabetes was 1.0% (n=30), abnormal LFT was 15.4% (n=469) and dyslipidemia was 18.7% (n=569). On multiple logistic regression analysis of the health profile and lifestyle, 'meat eating' was related to obesity, hypertension, abnormal LFT (ALT, gamma-GTP), dyslipidemia (LDL). 'Excessive alcohol drinking' was related to obesity, hypertension, abnormal LFT (gamma-GTP). 'Lack of exercise' was related to dyslipidemia (HDL). 'Current smoker' was related to obesity, diabetes, abnormal LFT (ALT, gamma-GTP), and dyslipidemia (TG, HDL) with statistically significance. CONCLUSIONS: For workers in the R&D company, an unhealthy lifestyle (such as diet, alcohol drinking, lack of exercise and smoking) were related to obesity, hypertension, diabetes, abnormal LFT and dyslipidemia. Therefore health promotion is necessary for the young employees of an Korean R&D company.
Alcohol Drinking ; Blood Pressure ; Body Mass Index ; Cholesterol ; Cross-Sectional Studies ; Diet ; Dyslipidemias ; Electronics ; Electrons ; Health Promotion ; Hypertension ; Life Style ; Liver ; Liver Function Tests ; Logistic Models ; National Health Programs ; Obesity ; Prevalence

PURPOSE: The study was aimed to determine the correlations of tissue-based biomarker expressions between primary and metastatic specimens of renal cell carcinoma and with several well-known prognostic clinicopathological parameters. MATERIALS AND METHODS: The immunohistochemistry (IHC) was used to determine the expression levels of 9 tissue-based markers calculated in H-score expressed by percentage of expression multiplied by the intensity score (0, 1, 2, and 3 points). Using 17 patients' 38 specimens paired with primary renal lesion and its metastatic lesions collected between 2004 and 2015, Tissue microarray with IHC was performed with BAP1, PBRM1, pS6, PTEN, TGase2, PD-L1, CA9, PSMA, and Ki-67 on formalin-fixed paraffin-embedded sections. Pearson correlation and accuracy test were performed to analyze the correlation between primary and metastatic tissues. RESULTS: The 17 patients' mean age was 56.9 years old, mean tumor size was 7.9 cm, and the male to female ratio was 13:4 (76.5%:23.5%), respectively. Three patients had 2, 3, and 3 metastatic tissues, and the rest of 14 patients had only one metastatic tissue. The H-score (PSMA and Ki67) and intensity score (pS6 and PSMA) showed that some differential significant markers were identified which had statistical correlations of expression levels between primary and metastatic lesions among 9 markers. However, no real correlation of PSMA, Ki67, and pS6 markers were found their expressions of between primary and metastatic tissues because of their skewed expressions. CONCLUSIONS: Tissue markers failed to correlate their expression levels in primary lesions with those of metastatic lesions.
Biomarkers* ; Carcinoma, Renal Cell* ; Female ; Humans ; Immunohistochemistry ; Male ; Neoplasm Metastasis

No abstract available.
Humans ; Korea