Differential loss of chromosome 11q in familial and sporadic parasympathetic paragangliomas detected by comparative genomic hybridization

Parasympathetic paragangliomas (PGLs) represent neuroendocrine tumors arising from chief cells in branchiomeric and intravagal paraganglia, which share several histological features with their sympathetic counterpart sympathoadrenal paragangliomas. In recent years, genetic analyses of the familial form of PGL have attracted considerable interest. However, the majority of paragangliomas occurs sporadically and it remains to be determined whether the pathogenesis of sporadic paraganglioma resembles that of the familial form. Furthermore, data on comparative genetic aberrations are scarce. To provide fundamental cytogenetic data on sporadic and hereditary PGLs, we performed comparative genomic hybridization using directly fluorochrome-conjugated DNA extracted from 12 frozen and 4 paraffin-embedded tumors. The comparative genomic hybridization data were extended by loss of heterozygosity analysis of chromosome 11q. DNA copy number changes were found in 10 (63%) of 16 tumors. The most frequent chromosomal imbalance involved loss of chromosome 11. Six of seven familial tumors and two of nine sporadic tumors showed loss of 11q (86% versus 22%, P = 0.012). Deletions of 11p and 5p were found in two of nine sporadic tumors. We conclude that overall DNA copy number changes are infrequent in PGLs compared to sympathetic paragangliomas and that loss of chromosome 11 may be an important event in their tumorigenesis, particularly in familial paragangliomas

Evaluation of IL-28B Polymorphisms and Serum IP-10 in Hepatitis C Infected Chimpanzees

In humans, clearance of hepatitis C virus (HCV) infection is associated with genetic variation near the IL-28B gene and the induction of interferon-stimulated genes, like IP-10. Also in chimpanzees spontaneous clearance of HCV is observed. To study whether similar correlations exist in these animals, a direct comparison of IP-10 and IL-28B polymorphism between chimpanzees and patients was performed. All chimpanzees studied were monomorphic for the human IL-28B SNPs which are associated with spontaneous and treatment induced HCV clearance in humans. As a result, these particular SNPs cannot be used for clinical association studies in chimpanzees. Although these human SNPs were absent in chimpanzees, gene variation in this region was present however, no correlation was observed between different SNP-genotypes and HCV outcome. Strikingly, IP-10 levels in chimpanzees correlated with HCV-RNA load and γGT, while such correlations were not observed in humans. The correlation between IP-10, γGT and virus load in chimpanzees was not found in patients and may be due to the lack of lifestyle-related confounding factors in chimpanzees. Direct comparison of IP-10 and IL-28B polymorphism between chimpanzees and patients in relation to HCV infection, illustrates that the IFN-pathways are important during HCV infection in both species. The Genbank EMBL accession numbers assigned to chimpanzees specific sequences near the IL-28B gene are HE599784 and HE599785

Losses of chromosomes 1p and 3q are early genetic events in the development of sporadic pheochromocytomas

Despite several loss of heterozygosity studies, a comprehensive genomic survey of pheochromocytomas is still lacking. To identify DNA copy number changes which might be important in tumor development and progression and which may have diagnostic utility, we evaluated genetic aberrations in 29 sporadic adrenal and extra-adrenal pheochromocytomas (19 clinically benign tumors and 10 malignant lesions). Comparative genomic hybridization was performed using directly fluorochrome-conjugated DNA extracted from frozen (16) and paraffin-embedded (13) tumor tissues. The most frequently observed changes were losses of chromosomes 1p11-p32 (86%), 3q (52%), 6q (34%), 3p, 17p (31% each), 11q (28%), and gains of chromosomes 9q (38%) and 17q (31%). No amplification was identified and no difference between adrenal and extra-adrenal tumors was detected. Progression to malignant tumors was strongly associated with deletions of chromosome 6q (60% versus 21% in clinically benign lesions, P = 0.0368) and 17p (50% versus 21%). Fluorescence in situ hybridization confirmed the comparative genomic hybridization data of chromosomes 1p, 3q, and 6q, and revealed aneuploidy in some tumors. Our results suggest that the development of pheochromocytomas is associated with specific genomic aberrations, such as losses of 1p, 3q, and 6q and gains of 9q and 17q. In particular, tumor suppressor genes on chromosomes 1p and 3q may be involved in early tumorigenesis, and deletions of chromosomes 6q and 17p in progression to malignancy

Chemotherapy for pulmonary large cell neuroendocrine carcinomas: Does the regimen matter?

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The Theory/Applications Balance in Management Pedagogy: Where Do We Stand?

Business schools are expected to be "professional" in the sense that their mission is primarily to prepare people to practice their skills in the business world. Various critics, however, claim that management professors overemphasize theory and research and neglect the practice and applications students need to transfer classroom theory to the world of practice. This study compared an earlier sample with a more recent sample of Academy of Management members concerning the relative emphasis they believed should be placed on theory and applications in management pedagogy and the techniques they used to bring applications into the classroom. Current respondents believed that more emphasis should be placed on applications than the earlier respondents. An unexpected finding, however, was that the more recent respondents reported a lower mean usage of pedagogical techniques that are appropriate for developing students' ability to apply course concepts than the previous group. Possible reasons for these incongruent findings are discussed as well as the implications for management pedagogy.Yeshttps://us.sagepub.com/en-us/nam/manuscript-submission-guideline

Microorganisms and spatial distribution of the sinkholes of the Yucatan Peninsula, underestimated biotechnological potential?

Investigación basada en el potencial bio-tecnológico de las micro-especies que habitan los cenotes de la Península de YucatánAbstract Objective: To detect the spatial distribution of the sinkholes of the Peninsula of Yucatan (SPY) and identify those cenotes where microorganisms have been registered. Methods: The geographic coordinates of the SPYs were obtained from various databases, as well as from scientific publications relating to the terminology ‘sinkholes’, ‘karst systems’ and ‘cenotes’. All coordinates were transformed into the Universal Transverse Mercator reference system (UTM) with datum WGS84. An infrared composite image was created with 432 RGB bands from the Landsat 8 satellite. The points with the location of the cenotes were imported into the Software TerrSet. Results: Total 1026 coordinates of sinkholes were recorded in the Yucatan Peninsula. In 18 sinkholes (<2%), microorganisms have been recovered and identified in various taxonomic levels, and only 6 sinkholes (<0.6%) has their biotechnological potential been evaluated. Conclusions: The microorganisms that inhabit the sinkholes of the Yucatan Peninsula are a reservoir with practically unexplored biotechnological potential.CONACY

Role of genetic testing for inherited prostate cancer risk: Philadelphia prostate cancer consensus conference 2017

Purpose: Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-dri

Significant differential gene duplication without ancestral tetraploidy in a genus of mexican fish

A comparison of the protein products of 20–25 structural gene loci among the known species of the goodeid fish genus Skiffia suggests that at least 4 loci (16–20%) have undergone species-specific duplications (or, in 1 case, apparent loss) during the evolution of the genus. The species are clearly diploids, and the data therefore indicate that even a large proportion of differentially duplicated loci within a group of related fish species is not critical evidence of common tetraploid ancestry. Differential duplication of structural gene loci may be an important component of the genetic differences that separate congeneric conventional diploid species.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/42725/1/18_2005_Article_BF01953797.pd