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

The robust identification and comprehensive profiling of copy number alterations (CNAs) is highly challenging. The amount of data obtained from high-throughput technologies such as array-based comparative genomic hybridization is often too large and it is required to develop a comprehensive and versatile tool for the detection and visualization of CNAs in a genome-wide scale. With this respective, we introduce a software framework, CGHscape that was originally developed to explore the CNAs for the study of copy number variation (CNV) or tumor biology. As a standalone program, CGHscape can be easily installed and run in Microsoft Windows platform. With a user-friendly interface, CGHscape provides a method for data smoothing to cope with the intrinsic noise of array data and CNA detection based on SW-ARRAY algorithm. The analysis results can be demonstrated as log2 plots for individual chromosomes or genomic distribution of identified CNAs. With extended applicability, CGHscape can be used for the initial screening and visualization of CNAs facilitating the cataloguing and characterizing chromosomal alterations of a cohort of samples.
Biology ; Coat Protein Complex I ; Cohort Studies ; Comparative Genomic Hybridization ; Mass Screening ; Noise ; Phosphatidylethanolamines

Mutation of p53 gene is one of t.he commonest genetic changes in the development of human cancer including ovary. We intvestigated the diagnostic usefulness of the demonstration of p53 gene immunoreactivity in ovarian cancers, because immunochemical demonstration of p53 immunoreactivity is inexpensive, easily controlled and can be applied in routine pathology laboratories. p53 immunoreactivity was not identified in any patients in whom there was no morphological evidence of neoplasia. ln contrast, in contrast, in 46% of patients of ovarian cancer, p53 immunoreactivity was identified. Overexpression of gene correlated with advanced stage but did not corre1ate with grade, cell type and tumor size.
Female ; Genes, p53* ; Humans ; Immunohistochemistry ; Ovarian Neoplasms* ; Ovary ; Pathology

A large number of terms has been applied to this clinical and pathophysiologic complex, all of which are encompassed by the designation ARDS. The use of this term,however, should not obscure the fact that the initial insults and mechanisms of lung injury vary and that therapy should be directed not only toward the secondary alterations in pulmonary function but toward the initiating event or events as well. In therapy, the use of continuous positive-pressure ventilaion(CPPV) incorporating PEEP has a well-documented role in the management of patients with ARDS. The veneficial effect of this pattern of ventilation is mainly attributable to the increase in FRC that it produces. As previously discussed, several factors combine to reduce lung volumes in patients with ARDS. Positive end-expiratory pressure overcomes threade by producing a constantly positive distending pressure across the walls of airways and alveoli; this reestablishes their patency and increases FRC. We report a case of ARDS after operation for Vesico-cervical fistula developed in a 34 years old woman and the relevant literature has been reviewed.
Adult* ; Blood Transfusion* ; Female ; Fistula ; Humans ; Lung ; Lung Injury ; Positive-Pressure Respiration ; Respiratory Distress Syndrome, Adult* ; Ventilation

Leiomyoma is a neoplasm of smooth muscle relatively common in the stomach, but very rare in the duodenal location. Recurrent bouts of severe melana remain the most frequent presenting symptom for leiomyoma. A 69-year-old man presented to us with a 4-day history of melena. Endoscopy revealed norinal mucosa covered ovoid elevated lesion with central linear depression and ulcer at the second portion of duodenum. Endoscopic biopsy showed chronic inflammation only. Duodenal mass was excised through a duodenotomy. Pathological diagnosis was leiomycena.
Aged ; Biopsy ; Depression ; Diagnosis ; Duodenum ; Endoscopy ; Esophagus* ; Hemorrhage* ; Humans ; Inflammation ; Intestines* ; Leiomyoma* ; MART-1 Antigen ; Melena ; Mucous Membrane ; Muscle, Smooth ; Stomach* ; Ulcer

No abstract available.
Glucose Transport Proteins, Facilitative* ; Glucose* ; Humans ; Insulin* ; Metabolome*

BACKGROUND: Stellate ganglion block (SGB) might be associated with changes in the blood pressure (BP) and heart rate (HR). The heart rate variability (HRV) shows the balance state between sympathetic and parasympathetic activities of the heart. The changes in these parameters of the HRV were studied to evaluate the possible mechanism of SGB in changing the BP. METHODS: SGB was performed on 26 patients, using a paratracheal technique at the C6 level, and 8 ml of 1% mepivacaine injected. The success was confirmed by check the Horner's syndrome. The BP, HR and HRV were measured before and 5, 15, 30, 45 and 60 minutes after the SGB. RESULTS: The increases in the BP from the baseline throughout the study period were statistically, but not clinically significant. The HR and LF/HF (low frequency/high frequency) ratio were increased at 5 and 45 min, respectively, after the administration of the SGB. In a comparison of left and right SGB, no significant differences were found in the BP, HR and HRV. A correlation analysis showed that an increased BP was significantly related with the changes in the LF/ HF ratio and LF at 15 and 30 minutes, respectively, after the SGB. Dividing the patients into two groups; an increased BP greater and less than 20% of that at the baseline INC and NOT groups, respectively, hoarseness occurred more often in the INC group (P = 0.02). CONCLUSIONS: It was concluded that SGB itself does not clinically increase the BP and HR in normal hemodynamic patients. However, the loss of balance between the sympathetic and parasympathetic nerve system, attenuation of the baroreceptor reflex and hoarseness are minor causes of the increase in the BP following SGB; therefore, further studies will be required.
Baroreflex ; Blood Pressure* ; Heart Rate* ; Heart* ; Hemodynamics ; Hoarseness ; Horner Syndrome ; Humans ; Mepivacaine ; Stellate Ganglion*

The advances in electronic medical records (EMRs) and bioinformatics (BI) represent two significant trends in healthcare. The widespread adoption of EMR systems and the completion of the Human Genome Project developed the technologies for data acquisition, analysis, and visualization in two different domains. The massive amount of data from both clinical and biology domains is expected to provide personalized, preventive, and predictive healthcare services in the near future. The integrated use of EMR and BI data needs to consider four key informatics areas: data modeling, analytics, standardization, and privacy. Bioclinical data warehouses integrating heterogeneous patient-related clinical or omics data should be considered. The representative standardization effort by the Clinical Bioinformatics Ontology (CBO) aims to provide uniquely identified concepts to include molecular pathology terminologies. Since individual genome data are easily used to predict current and future health status, different safeguards to ensure confidentiality should be considered. In this paper, we focused on the informatics aspects of integrating the EMR community and BI community by identifying opportunities, challenges, and approaches to provide the best possible care service for our patients and the population.
Biology ; Computational Biology ; Confidentiality ; Delivery of Health Care ; Electronic Health Records ; Genome ; Human Genome Project ; Humans ; Informatics ; Medical Informatics* ; Pathology, Molecular ; Privacy

No abstract available.