The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.
Coat Protein Complex I ; Disease Susceptibility ; Genetic Variation ; Genome, Human ; Humans ; Mass Screening ; Polymorphism, Single Nucleotide ; Biomarkers

The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.
Coat Protein Complex I ; Disease Susceptibility ; Genetic Variation ; Genome, Human ; Humans ; Mass Screening ; Polymorphism, Single Nucleotide ; Biomarkers

No abstract available.
Chromosome Aberrations ; Comparative Genomic Hybridization*

Patient survival is one of the most important measures for the evaluation of progress in cancer patient care across the wide spectrum from diagnosis to treatment. The optimal monitoring method for cancer patient survival is to estimate survival based on representative data from cancer patients in the population, which is only achievable through using population-based cancer registration data. Relative survival is used to compare the survival experience in a study cohort that expected to result from background population mortality rates. This technique is useful when the cause of death is not accurate or not available, since it provides a measure of excess mortality in a group of patients with a certain disease. The purpose of this article is to demonstrate the procedures for estimating relative survival using the statistical software Stata. For this survival analysis to show the procedure, the example data set was randomly selected from the National Cancer Incidence Database, which was used in a recent article reporting the overall relative survival of cancer patients diagnosed during 1993-2002 in Korea.
Cause of Death ; Cohort Studies ; Dataset ; Diagnosis ; Humans ; Incidence ; Korea ; Mortality ; Patient Care ; Survival Analysis*

OBJECTIVES: Deficit schizophrenia (DS) constitutes a disease separate from non-deficit schizophrenia (NDS). The aim of the current study was to compare the quantitative EEG and low resolution electromagnetic tomography (LORETA) imaging between DS and NDS. METHODS: This study was performed by 32 channels EEG for 42 schizophrenia patients who we categorized into DS and NDS using proxy instrument deficit syndrome (PDS). We performed the absolute power spectral analyses for delta, theta, alpha, low beta and high beta activities. We compared power spectrum between two groups using Independent t-test. Partial correlation test was performed with clinical parameters. Standardized LORETA (sLORETA) was used for comparison of cortical activity, and statistical nonparametric mapping (SnPM) was applied for the statistical analysis. RESULTS: DS showed significantly increased delta and theta absolute power in fontal and parietal region compared with NDS (p<0.05). Power spectrum showed significant correlation with 'anergia' and 'hostility/suspiciousness' subscale of brief psychiatric rating scale (BPRS)(p<0.05). sLORETA found out the source region (anterior cingulate cortex/limbic part) that delta activity was significantly increased in DS (p=0.042). CONCLUSIONS: DS showed different cortical activity compared with NDS. Our results may suggest QEEG and LORETA could be the marker in differentiating between DS and NDS.
Brief Psychiatric Rating Scale ; Electroencephalography ; Humans ; Magnets ; Naphthalenesulfonates ; Proxy ; Schizophrenia

In November 2013, the US Food and Drug Administration (FDA) sent a warning letter to 23andMe, Inc. and ordered the company to discontinue marketing of the 23andMe Personal Genome Service (PGS) until it receives FDA marketing authorization for the device. The FDA considers the PGS as an unclassified medical device, which requires premarket approval or de novo classification. Opponents of the FDA's action expressed their concerns, saying that the FDA is overcautious and paternalistic, which violates consumers' rights and might stifle the consumer genomics field itself, and insisted that the agency should not restrict direct-to-consumer (DTC) genomic testing without empirical evidence of harm. Proponents support the agency's action as protection of consumers from potentially invalid and almost useless information. This action was also significant, since it reflected the FDA's attitude towards medical application of next-generation sequencing techniques. In this review, we followed up on the FDA-23andMe incident and evaluated the problems and prospects for DTC genetic testing.
Classification ; Genetic Testing* ; Genome ; Genomics ; Human Rights ; Humans ; Marketing ; Stifle ; United States Food and Drug Administration

Generalized syringoma is a rare variant of syringoma, whose incidence peaks during childhood and adolescence, with no difference seen in either sex. It frequently affects the chest, neck, abdomen and axilla, and occasionally shows spontaneous regression. A 34-year-old woman presented with pruritic, multiple, 1~3 mm sized, lightbrownish papules on the chest, abdomen, and back. One year before, she had been diagnosed as having verruca plana at a private dermatologic clinic and had received immunotherapy, but experienced disappointing results. Histologically, the disorder showed numerous dilated eccrine ducts lined by two rows of epithelial cells. We herein report a case of generalized syringoma misdiagnosed as verruca plana, plus a review of the literature.
Abdomen ; Adolescent ; Adult ; Axilla ; Diagnostic Errors ; Epithelial Cells ; Female ; Humans ; Immunotherapy ; Incidence ; Neck ; Syringoma* ; Thorax ; Warts*

BACKGROUND: Pleural effusion is a common disease in clinical practice but its effect on pulmonary function and altered pulmonary mechanics after removal of effusion are not still largely understood. Previous studies have shown that there is little or a relatively small improvement in pulmonary function and arterial blood oxygenation after therapeutic thoracentesis. The present study was designed to assess the effect on pulmonary function of pleural effusion and to test whether there was a significant improvement in pulmonary function and arterial oxygenation after thoracentesis and to observe long term effect after thoracentesis. METHOD: We examined flow-volume curve, body box and arterial blood gas analysis according to severity of effusion, present symptom, and symptom duration. Then, we measured changes of pulmonary function after thoracentesis and observed longterm effect after thoracentesis. RESULT: 1) Pleural effusion cause restrictive pulmonary insufficiency. Not only functional impairment of small airway but also large airway is provoked. 2) MMFR, FEV1, Raw, PO2 are earlier improved than FVC and TLC after thoracentesis and patients without complication have mild restrictive pulmonary insufficiency after longterm observation 3) FVC, FEV1, & TLC are similarly restricted as severity of pleural effusion and PO2 is relatively decreased. 4) Cases with symptom duration 1 week or less and cases with dyspnea have more severe pulmonary insufficiency than others. 5) The flow volume curves show a relatively greater improvement in flow rates at large lung volumes than small airway. 6) Significant relationship is shown between first thoracentesis amount and changes of FEV1, FVC, TLC. CONCUSION: Pleural effusion cause restrictive pulmonary insufficiency and not only functional impairment of small airway impairment but also large airway is provoked. Then, Pulmonary function is progressively improved after thoracentesis and remained mild restrictive pulmonary insufficiency after recovery
Blood Gas Analysis ; Dyspnea ; Humans ; Lung ; Maximal Midexpiratory Flow Rate ; Mechanics ; Oxygen ; Pleural Effusion* ; Tuberculosis, Pleural*

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

Corticotrophin-releasing factor (CRF) plays a major role in coordinating stress responses. We aimed to test whether blocking endogenous CRF activity can prevent the stress-induced dilation of intercellular spaces in esophageal mucosa. Eighteen adult male rats were divided into 3 groups: 1) a non-stressed group (the non-stressed group), 2) a saline-pretreated stressed group (the stressed group), 3) and an astressin-pretreated stressed group (the astressin group). Immediately after completing the experiments according to the protocol, distal esophageal segments were obtained. Intercellular space diameters of esophageal mucosa were measured by transmission electron microscopy. Blood was sampled for the measurement of plasma cortisol levels. Mucosal intercellular spaces were significantly greater in the stressed group than in the non-stressed group. Mucosal intercellular spaces of the astressin group were significantly smaller than those of the stressed group. Plasma cortisol levels in the stressed group were significantly higher than in the non-stressed group. Pretreatment with astressin tended to decrease plasma cortisol levels. Acute stress in rats enlarges esophageal intercellular spaces, and this stress-induced alteration appears to be mediated by CRF. Our results suggest that CRF may play a role in the pathophysiology of reflux-induced symptoms or mucosal damage.
Animals ; Corticotropin-Releasing Hormone/*antagonists & inhibitors/metabolism/pharmacology ; Esophagus/anatomy & histology/*drug effects ; Extracellular Space/*drug effects ; Hydrocortisone/blood ; Male ; Mucous Membrane/anatomy & histology/*drug effects ; Neuroprotective Agents/pharmacology ; Peptide Fragments/*pharmacology ; Rats ; Rats, Wistar ; *Stress, Psychological/blood/physiopathology