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https://www.readbyqxmd.com/read/28343013/inflammatory-muscle-disease-a-new-landscape
#1
Alain Meyer, Béatrice Lannes, Joëlle Goetz, Andoni Echaniz-Laguna, Dan Lipsker, Laurent Arnaud, Thierry Martin, Jacques Eric Gottenberg, Bernard Geny, Jean Sibilia
Greater accuracy in clinical descriptions combined with advances in muscle histology and immunology have established that inflammatory muscle diseases (IMDs) resemble inflammatory joint diseases in that they constitute a highly heterogeneous group of conditions. The topographic distribution, severity, and tempo of onset vary widely, and the histological findings distinguish at least five different profiles, which may reflect different pathophysiological processes. Most IMDs are connective tissue diseases that can affect multiple organs, among which the most common targets are the skin, joints, and lungs...
March 22, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28342886/using-genetic-data-to-improve-species-distribution-models
#2
Jérémy Bouyer, Renaud Lancelota
Tsetse flies (Diptera, Glossinidae) transmit human and animal trypanosomoses in Africa, respectively a neglected human disease (sleeping sickness) and the most important constraint to cattle production in infested countries (nagana). We recently developed a methodology to map landscape friction (i.e. resistance to movement) for tsetse in West Africa. The goal was to identify natural barriers to tsetse dispersal, and potentially isolated tsetse populations for targeting elimination programmes. Most species distribution models neglect landscape functional connectivity whereas environmental factors affecting suitability or abundance are not necessarily the same as those influencing gene flows...
March 22, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28339086/identification-of-novel-mutations-in-endometrial-cancer-patients-by-whole-exome-sequencing
#3
Ya-Sian Chang, Hsien-Da Huang, Kun-Tu Yeh, Jan-Gowth Chang
The aim of the present study was to identify genomic alterations in Taiwanese endometrial cancer patients. This information is vitally important in Taiwan, where endometrial cancer is the second most common gynecological cancer. We performed whole-exome sequencing on DNA from 14 tumor tissue samples from Taiwanese endometrial cancer patients. We used the Genome Analysis Tool kit software package for data analysis, and the dbSNP, Catalogue of Somatic Mutations in Cancer (COSMIC) and The Cancer Genome Atlas (TCGA) databases for comparisons...
March 20, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28337711/circulating-tumor-dna-for-mutation-detection-and-identification-of-mechanisms-of-resistance-in-non-small-cell-lung-cancer
#4
REVIEW
Kay T Yeung, Soham More, Brian Woodward, Victor Velculescu, Hatim Husain
Targeted therapies have changed the treatment landscape of non-small cell lung cancer over the past decade. Analyses of cell free circulating tumor DNA (ctDNA) provide a non-invasive and robust approach for cancer diagnosis and prognosis, real-time monitoring of treatment response, and the identification of appropriate therapeutic targets based on the detection of tumor genetic aberrations. Recent improvements in the sensitivity, specificity, and feasibility of ctDNA detection assays allow the possibility for implementation into clinical practice...
March 24, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28335735/population-diversity-of-the-genetically-determined-ttr-expression-in-human-tissues-and-its-implications-in-ttr-amyloidosis
#5
Andrea Iorio, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Luca G Pradotto, Anna Mazzeo, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti
BACKGROUND: Transthyretin (TTR) amyloidosis is a hereditary disease with a complex genotype-phenotype correlation. We conducted a literature survey to define the clinical landscape of TTR amyloidosis across populations worldwide. Then, we investigated whether the genetically determined TTR expression differs among human populations, contributing to the differences observed in patients. Polygenic scores for genetically determined TTR expression in 14 clinically relevant tissues were constructed using data from the GTEx (Genotype-Tissue Expression) project and tested in the samples from the 1,000 Genomes Project...
March 23, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28334324/understanding-the-genetic-landscape-of-small-cell-carcinoma-of-the-urinary-bladder-and-implications-for-diagnosis-prognosis-and-treatment-a-review
#6
Erik J Kouba, Liang Cheng
Importance: Small cell carcinoma of the urinary bladder is a rare and aggressive neuroendocrine tumor of the urinary bladder. Although research has been performed since the first case was reported in 1981, most of our understanding of the disease treatments has been extrapolated from small cell carcinoma of the lung. However, current data on patient survival have been stagnant. Observations: With the advent of advanced molecular diagnostic methods, a new potential for understanding the origin and treatment of small cell carcinoma of the urinary bladder has become evident...
March 23, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28334091/landscape-level-patterns-of-elevated-fs1-asian-allele-frequencies-in-populations-of-gypsy-moth-lepidoptera-erebidae-at-a-northern-u-s-boundary
#7
Marissa A Streifel, Patrick C Tobin, Lucia Hunt, Hannah Nadel, John J Molongoski, Brian H Aukema
From a regulatory perspective, Asian gypsy moth is a species complex consisting of three species of Lymantria and two subspecies of Lymantria dispar (L.), differing from the European subspecies, L. dispar dispar (L.), by having consistently flight-capable females. As such, the invasion potential in North America is thought to exceed that of European gypsy moth. USDA-APHIS therefore has a monitoring program to detect Asian gypsy moth at high-risk introduction pathways. Molecular markers are used to improve the diagnosis of Asian gypsy moth...
February 17, 2017: Environmental Entomology
https://www.readbyqxmd.com/read/28332646/the-role-of-animal-reservoirs-in-social-environmental-landscapes-remarks-on-the-control-of-avian-influenza-and-preparedness-for-pandemics
#8
M P Ortiz-Rodríguez, G C Ramírez-Nieto, L C Villamil-Jiménez
Influenza viruses are well known for their ability to infect and cause disease in a broad range of hosts. Modern advances in reverse genetics have enabled scientists to probe the mutations that allow influenza viruses to perform host switching. Despite this detailed understanding of the molecular modifications that allow host switching and adaptation, there is a gap in knowledge regarding the factors external to the virus and their interactions that act as triggers leading to a pandemic. Studies on the ecology of zoonotic pathogens should be the new paradigm for understanding not only influenza viruses but any other infectious disease that can be a threat to animal and human health...
December 2016: Revue Scientifique et Technique
https://www.readbyqxmd.com/read/28329141/frequent-spread-of-plasmodium-vivax-malaria-maintains-high-genetic-diversity-at-the-myanmar-china-border-without-distance-and-landscape-barriers
#9
Eugenia Lo, Nancy Lam, Elizabeth Hemming-Schroeder, Jennifer Nguyen, Guofa Zhou, Ming-Chieh Lee, Zhaoqing Yang, Liwang Cui, Guiyun Yan
Background.: In Myanmar, civil unrest and the establishment of internally displaced persons (IDP) settlements along the Myanmar-China border have impacted malaria transmission. Methods.: Microsatellite markers were used to examine source-sink dynamics for Plasmodium vivax between IDP and surrounding villages in the border region. Genotypic structure and diversity were compared across the three years following the establishment of IDP in order to infer demographic history...
March 3, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28328955/treatment-monitoring-in-metastatic-colorectal-cancer-patients-by-quantification-and-kras-genotyping-of-circulating-cell-free-dna
#10
Andreas W Berger, Daniel Schwerdel, Hanna Welz, Ralf Marienfeld, Stefan A Schmidt, Alexander Kleger, Thomas J Ettrich, Thomas Seufferlein
Treatment of metastatic colorectal cancer (CRC) has continuously improved over the last decade. However, disease monitoring remains underdeveloped and mostly dependent on imaging e.g. RECIST 1.1 criteria. The genetic landscape of individual cancers and subsequently occurring treatment-induced evolution remain neglected in current surveillance strategies. Novel biomarkers demand minimally invasive and repetitive tracking of the cancer mutagenome for therapy stratification and to make prognostic predictions. Carcinoembryonic antigen (CEA), a routinely used tumor marker for CRC, does not meet these goals and thus prevents its use as a reliable monitoring tool...
2017: PloS One
https://www.readbyqxmd.com/read/28328508/hapiso-an-accurate-method-for-the-haplotype-specific-isoforms-reconstruction-from-long-single-molecule-reads
#11
Serghei Mangul, Harry Taegyun Yang, Farhad Hormozdiari, Alex Dainis, Elizabeth Tseng, Euan A Ashley, Alex Zelikovsky, Eleazar Eskin
Sequencing of RNA provides the possibility to study an individual's transcriptome landscape and determine allelic expression ratios. Single-molecule protocols generate multi-kilobase reads longer than most transcripts allowing sequencing of complete haplotype isoforms. This allows partitioning the reads into two parental haplotypes. While the read length of the single-molecule protocols is long, the relatively high error rate limits the ability to accurately detect the genetic variants and assemble them into the haplotype-specific isoforms...
March 17, 2017: IEEE Transactions on Nanobioscience
https://www.readbyqxmd.com/read/28327598/global-dna-methylation-analysis-identifies-two-discrete-clusters-of-pheochromocytoma-with-distinct-genomic-and-genetic-alterations
#12
Samuel Backman, Rajani Maharjan, Alberto Falk-Delgado, Joakim Crona, Kenko Cupisti, Peter Stålberg, Per Hellman, Peyman Björklund
Pheochromocytomas and paragangliomas (PPGLs) are rare and frequently heritable neural-crest derived tumours arising from the adrenal medulla or extra-adrenal chromaffin cells respectively. The majority of PPGL tumours are benign and do not recur with distant metastases. However, a sizeable fraction of these tumours secrete vasoactive catecholamines into the circulation causing a variety of symptoms including hypertension, palpitations and diaphoresis. The genetic landscape of PPGL has been well characterized and more than a dozen genes have been described as recurrently mutated...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325831/landscape-genomic-insights-into-the-historic-migration-of-mountain-hemlock-in-response-to-holocene-climate-change
#13
Jeremy S Johnson, Keith D Gaddis, David M Cairns, Kranti Konganti, Konstantin V Krutovsky
PREMISE OF THE STUDY: Untangling alternative historic dispersal pathways in long-lived tree species is critical to better understand how temperate tree species may respond to climatic change. However, disentangling these alternative pathways is often difficult. Emerging genomic technologies and landscape genetics techniques improve our ability to assess these pathways in natural systems. We address the question to what degree have microrefugial patches and long-distance dispersal been responsible for the colonization of mountain hemlock (Tsuga mertensiana) on the Alaskan Kenai Peninsula...
March 21, 2017: American Journal of Botany
https://www.readbyqxmd.com/read/28323281/chance-and-necessity-in-the-genome-evolution-of-endosymbiotic-bacteria-of-insects
#14
Beatriz Sabater-Muñoz, Christina Toft, David Alvarez-Ponce, Mario A Fares
An open question in evolutionary biology is how does the selection-drift balance determine the fates of biological interactions. We searched for signatures of selection and drift in genomes of five endosymbiotic bacterial groups known to evolve under strong genetic drift. Although most genes in endosymbiotic bacteria showed evidence of relaxed purifying selection, many genes in these bacteria exhibited stronger selective constraints than their orthologs in free-living bacterial relatives. Remarkably, most of these highly constrained genes had no role in the host-symbiont interactions but were involved in either buffering the deleterious consequences of drift or other host-unrelated functions, suggesting that they have either acquired new roles or their role became more central in endosymbiotic bacteria...
March 21, 2017: ISME Journal
https://www.readbyqxmd.com/read/28321501/visualization-of-tumor-heterogeneity-by-in-situ-padlock-probe-technology-in-colorectal-cancer
#15
Amin El-Heliebi, Karl Kashofer, Julia Fuchs, Stephan W Jahn, Christian Viertler, Andrija Matak, Peter Sedlmayr, Gerald Hoefler
Tumor heterogeneity is considered a major cause for therapy resistance in colorectal cancer. Sub-populations of cells with different genetic alterations may exist in spatially distinct areas. Upon therapy, resistant sub-clones may enrich and ultimately lead to disease progression. Although ample data are available on tumors which are heterogeneous on a morphological level, only little is known about morphologically homogeneous tumors. We aimed to investigate if morphologically homogeneous colorectal cancer can harbor a heterogeneous genetic landscape...
March 20, 2017: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/28314689/dna-methylation-based-classification-and-grading-system-for-meningioma-a-multicentre-retrospective-analysis
#16
Felix Sahm, Daniel Schrimpf, Damian Stichel, David T W Jones, Thomas Hielscher, Sebastian Schefzyk, Konstantin Okonechnikov, Christian Koelsche, David E Reuss, David Capper, Dominik Sturm, Hans-Georg Wirsching, Anna Sophie Berghoff, Peter Baumgarten, Annekathrin Kratz, Kristin Huang, Annika K Wefers, Volker Hovestadt, Martin Sill, Hayley P Ellis, Kathreena M Kurian, Ali Fuat Okuducu, Christine Jungk, Katharina Drueschler, Matthias Schick, Melanie Bewerunge-Hudler, Christian Mawrin, Marcel Seiz-Rosenhagen, Ralf Ketter, Matthias Simon, Manfred Westphal, Katrin Lamszus, Albert Becker, Arend Koch, Jens Schittenhelm, Elisabeth J Rushing, V Peter Collins, Stefanie Brehmer, Lukas Chavez, Michael Platten, Daniel Hänggi, Andreas Unterberg, Werner Paulus, Wolfgang Wick, Stefan M Pfister, Michel Mittelbronn, Matthias Preusser, Christel Herold-Mende, Michael Weller, Andreas von Deimling
BACKGROUND: The WHO classification of brain tumours describes 15 subtypes of meningioma. Nine of these subtypes are allotted to WHO grade I, and three each to grade II and grade III. Grading is based solely on histology, with an absence of molecular markers. Although the existing classification and grading approach is of prognostic value, it harbours shortcomings such as ill-defined parameters for subtypes and grading criteria prone to arbitrary judgment. In this study, we aimed for a comprehensive characterisation of the entire molecular genetic landscape of meningioma to identify biologically and clinically relevant subgroups...
March 14, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28303495/genetic-landscape-and-classification-of-peripheral-t-cell-lymphomas
#17
REVIEW
Rosalind F Sandell, Rebecca L Boddicker, Andrew L Feldman
PURPOSE OF REVIEW: Peripheral T cell lymphomas (PTCLs) are markedly heterogeneous at the clinical, pathological, and molecular levels. This review will discuss genetic findings in PTCL with special emphasis on how they impact lymphoma classification. RECENT FINDINGS: Sequencing studies have identified recurrent genetic alterations in nearly every PTCL subtype. In anaplastic large cell lymphoma, these studies have revealed novel chromosomal rearrangements and mutations that have prognostic significance and may suggest new therapeutic approaches...
April 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/28303193/biodiversity-in-agricultural-landscapes-the-effect-of-apple-cultivar-on-epiphyte-diversity
#18
C Robin Stevenson, Chantel Davies, Jennifer K Rowntree
In natural systems, extended phenotypes of trees can be important in determining the species composition and diversity of associated communities. Orchards are productive systems where trees dominate, and can be highly biodiverse, but few studies have considered the importance of tree genetic background in promoting associated biodiversity. We tested the effect of apple cultivar (plant genetic background) on the diversity and composition of the associated epiphytic bryophyte community across a total of seven cultivars in five productive East Anglian orchards where each orchard contained two cultivars...
February 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28302711/precision-and-prognostic-value-of-clone-specific-minimal-residual-disease-in-acute-myeloid-leukemia
#19
Pierre Hirsch, Ruoping Tang, Nassera Abermil, Pascale Flandrin, Hannah Moatti, Fabrizia Favale, Ludovic Suner, Florence Lorre, Christophe Marzac, Fanny Fava, Anne-Claire Mamez, Simona Lapusan, Françoise Isnard, Mohamad Mohty, Ollivier Legrand, Luc Douay, Chrystele Bilhou-Nabera, François Delhommeau
The genetic landscape of adult acute myeloid leukemias has been recently unraveled. However, due to their genetic heterogeneity, only a handful of markers are currently used for the evaluation of minimal residual disease. Recent studies using multi-target strategies indicate that detection of residual mutations in less than 5% of cells in complete remission is associated with a better survival. Here, in a series of 69 acute myeloid leukemias with known clonal architecture, we design a clone-specific strategy based on fluorescent in situ hybridization and high-sensitivity next generation sequencing to detect chromosomal aberrations and mutations, respectively, in follow-up samples...
March 16, 2017: Haematologica
https://www.readbyqxmd.com/read/28302443/growing-complexity-of-expanded-carrier-screening-direct-to-consumer-physician-mediated-and-clinic-based-offers
#20
REVIEW
Davit Chokoshvili, Danya F Vears, Pascal Borry
Since the introduction of out-of-hospital health-related genetic tests more than a decade ago, the landscape of genetic testing services has grown in complexity. Although initially most genetic tests for health purposes were offered as direct-to-consumer services, that is, without the mediation of a medical professional, currently many commercial providers require that their tests be ordered by a licensed physician. At the same time, some commercially developed health-related genetic tests are gaining support from the professional medical community and are finding their way into clinical practice...
February 16, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
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