No abstract available.
Chromosome Aberrations ; Comparative Genomic Hybridization*

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

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*

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

The rapid advances in genetic knowledge and technology raise various, sometimes unprecedented, ethical dilemmas in the scientific community as well as the public realm. To deal with these dilemmas, the international community has prepared and issued ethical standards in various formats. In this review, seven international standards regarding genetics and genomics will be briefly introduced in chronological order. Critical reflections on them will not be provided in this review, and naturally, they have their own problems and shortcomings. However, a common set of the principles expressed in them will be highlighted here, because they are still relevant, and many of them will be more relevant in the future. Some of the interesting contents will be selected and described. After that, the morality of one recent event related to whole-genome sequencing and person-identifiable genetic data will be explored based on those international standards.
Ethics ; Genetics* ; Genomics* ; Morals

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*

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

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

Extra-ovarian yolk sac tumor arising in the omentum is extremely rare. As yolk sac tumor originated from the omentum has been rarely reported, its clinical information is very limited. The authors encountered a case of yolk sac tumor originated from the omentum, and reported the case herein. A 32-year-old woman was presented with developed low abdominal distension for a month. Magnetic resonance imaging findings were suggestive of ovarian malignancy with ascites and peritoneal seeding nodules. Explorative laparotomy was performed and then the findings from frozen biopsy of omentum were suggestive of poorly differentiated tumor though whether it was primary or metastatic was uncertain. Thus, staging laparotomy were performed. Histopathology confirmed that the tumor was a yolk sac tumor of omentum origin. Then, 6 cycles of postoperative adjuvant chemotherapy at intervals of 3 weeks were performed using bleomycin, etoposide, and cisplatin regimen. Four-year outpatient follow-up thereafter showed no relapse.
Adult ; Ascites ; Biopsy ; Bleomycin ; Chemotherapy, Adjuvant ; Cisplatin ; Endodermal Sinus Tumor* ; Etoposide ; Female ; Follow-Up Studies ; Humans ; Laparotomy ; Magnetic Resonance Imaging ; Omentum* ; Outpatients ; Rare Diseases ; Yolk Sac