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Laboratory genetics

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https://www.readbyqxmd.com/read/28087944/laboratory-diagnosis-and-susceptibility-testing-for-mycobacterium-tuberculosis
#1
Gary W Procop
The laboratory, which utilizes some of the most sophisticated and rapidly changing technologies, plays a critical role in the diagnosis of tuberculosis. Some of these tools are being employed in resource-challenged countries for the rapid detection and characterization of Mycobacterium tuberculosis. Foremost, the laboratory defines appropriate specimen criteria for optimal test performance. The direct detection of mycobacteria in the clinical specimen, predominantly done by acid-fast staining, may eventually be replaced by rapid-cycle PCR...
December 2016: Microbiology Spectrum
https://www.readbyqxmd.com/read/28087779/genomics-of-parallel-experimental-evolution-in-drosophila
#2
J L Graves, K L Hertweck, M A Phillips, M V Han, L G Cabral, T T Barter, L F Greer, M K Burke, L D Mueller, M R Rose
What are the genomic foundations of adaptation in sexual populations? We address this question using fitness-character and whole-genome sequence data from 30 Drosophila laboratory populations. These 30 populations are part of a nearly forty-year laboratory radiation featuring three selection regimes, each shared by ten populations for up to 837 generations, with moderately large effective population sizes. Each of three sets of ten populations that shared a selection regime consist of five populations that have long been maintained under that selection regime, paired with five populations that had only recently been subjected to that selection regime...
January 12, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28081447/hepatic-transcriptional-responses-to-copper-in-the-three-spined-stickleback-are-affected-by-their-pollution-exposure-history
#3
Tamsyn M Uren Webster, Tim D Williams, Ioanna Katsiadaki, Anke Lange, Ceri Lewis, Janice A Shears, Charles R Tyler, Eduarda M Santos
Some fish populations inhabiting contaminated environments show evidence of increased chemical tolerance, however the mechanisms contributing to this tolerance, and whether this is heritable, are poorly understood. We investigated the responses of two populations of wild three-spined stickleback (Gasterosteus aculeatus) with different histories of contaminant exposure to an oestrogen and copper, two widespread aquatic pollutants. Male stickleback originating from two sites, the River Aire, with a history of complex pollution discharges, and Siblyback Lake, with a history of metal contamination, were depurated and then exposed to copper (46μg/L) and the synthetic oestrogen ethinyloestradiol (22ng/L)...
December 31, 2016: Aquatic Toxicology
https://www.readbyqxmd.com/read/28078776/performance-of-the-forenseq-tm-dna-signature-prep-kit-on-highly-degraded-samples
#4
Paolo Fattorini, Carlo Previderé, Ilaria Carboni, Giorgio Marrubini, Solange Sorçaburu-Cigliero, Pierangela Grignani, Barbara Bertoglio, Paolo Vatta, Ugo Ricci
Next generation sequencing (NGS) is the emerging technology in forensic genomics laboratories. It offers higher resolution to address most problems of human identification, greater efficiency and potential ability to interrogate very challenging forensic casework samples. In the present study, a trial set of DNA samples was artificially degraded, by progressive aqueous hydrolysis, and analyzed together with the corresponding unmodified DNA sample and control sample 2800M, to test the performance and reliability of the ForenSeq(TM) DNA Signature Prep kit using the MiSeq Sequencer (Illumina)...
January 12, 2017: Electrophoresis
https://www.readbyqxmd.com/read/28078662/low-immunoglobulin-e-flags-two-distinct-types-of-immune-dysregulation
#5
M Elkuch, V Greiff, C T Berger, M Bouchenaki, T Daikeler, A Bircher, A A Navarini, I Heijnen, M Recher
During the last two decades, hyper-immunoglobulin (Ig)E syndromes have been characterized clinically and molecularly in patients with genetically determined primary immunodeficiencies. However, the detection of low IgE levels, defined here as below detection limit in the routine clinical immunology laboratory, has received little attention. We analysed the association of serum IgA, IgM and IgG levels (including IgG subclasses) with low, normal or high serum IgE levels in patients evaluated in a single-centre out-patient immunodeficiency and allergy clinic...
January 11, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28078315/degenerative-ataxias-challenges-in-clinical-research
#6
REVIEW
Sub H Subramony
The degenerative ataxias are a very heterogeneous group of disorders that include numerous genetic diseases as well as apparently "sporadic" entities. There has been an explosion of discoveries related to genetic defects and related pathomechanisms that has brought us to the threshold of meaningful therapies in some but not all of these diseases. There also continues to be lack of knowledge of the causation of disease in a sizeable proportion of these patients. The overall rarity of ataxias as a whole and certainly of the individual genetic entities together with slow and variable progression and variable prognosis in juxtaposition with a rapid development of possible therapies in the horizon such as gene replacement and gene knock-down strategies places the ataxias in a unique position distinct from other similar neurodegenerative diseases...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28077698/detection-of-antigenic-variants-of-swine-subtype-h3-influenza-a-viruses-from-clinical-samples
#7
Brigitte E Martin, Andrew S Bowman, Lei Li, Jacqueline M Nolting, David R Smith, Larry A Hanson, Xiu-Feng Wan
A large population of genetically and antigenically diverse influenza A viruses (IAVs) are circulating among the swine population, playing an important role in influenza ecology. Swine IAVs not only cause outbreaks among swine, but they can also be transmitted to humans, causing sporadic infections and even pandemic outbreaks. Antigenic characterization of swine IAVs are key to understanding the natural history of these viruses in swine and to selecting strains for effective vaccines. However, influenza outbreaks generally spread rapidly among swine, and the conventional methods for antigenic characterization require virus propagation, a time-consuming process that can significantly reduce the effectiveness of vaccination programs...
January 11, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28077567/farme-db-a-functional-antibiotic-resistance-element-database
#8
James C Wallace, Jesse A Port, Marissa N Smith, Elaine M Faustman
Antibiotic resistance (AR) is a major global public health threat but few resources exist that catalog AR genes outside of a clinical context. Current AR sequence databases are assembled almost exclusively from genomic sequences derived from clinical bacterial isolates and thus do not include many microbial sequences derived from environmental samples that confer resistance in functional metagenomic studies. These environmental metagenomic sequences often show little or no similarity to AR sequences from clinical isolates using standard classification criteria...
2017: Database: the Journal of Biological Databases and Curation
https://www.readbyqxmd.com/read/28074740/what-goes-around-can-come-around-an-unexpected-deleterious-effect-of-using-mouse-running-wheels-for-environmental-enrichment
#9
Renee Y
Environmental enrichment items such as running wheels can promote the wellbeing of laboratory mice. Growing evidencesuggests that wheel running simulates exercise effects in many mouse models of human conditions, but this activityalso might change other aspects of mouse behavior. In this case study, we show that the presence of running wheels leadsto pronounced and permanent circling behavior with route-tracing in a proportion of the male mice of a genetically distinctcohort. The genetic background of this cohort includes a mutation in Arhgap19, but genetic crosses showed that an unknownsecond-site mutation likely caused the induced circling behavior...
January 10, 2017: Journal of the American Association for Laboratory Animal Science: JAALAS
https://www.readbyqxmd.com/read/28072956/-clinical-and-immunological-analysis-of-the-patient-with-autoimmunity-due-to-germline-stat3-gain-of-function-mutation
#10
Y Ding, Y Zhang, Y P Wang, H Y Zhao, X M Chen, X H Xue, X M Bai, Y F An, Z Y Zhang, X M Tang, X D Zhao
Objective: To investigate the clinical and immunological laboratory features and gene mutation in a female patient who carried a germline gain-of-function mutation in STAT3. Method: A patient with lymphadenopathy and pancytopenia, visited the Department of Rheumatology and Immunology of Children's Hospital of Chongqing Medical University in May 2016. The clinical and laboratory characteristics, results of immunophenotyping and exome sequencing were analyzed retrospectively and related literature was reviewed...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28071753/de-novo-assembly-annotation-and-characterization-of-the-whole-brain-transcriptome-of-male-and-female-syrian-hamsters
#11
Katharine E McCann, David M Sinkiewicz, Alisa Norvelle, Kim L Huhman
Hamsters are an ideal animal model for a variety of biomedical research areas such as cancer, virology, circadian rhythms, and behavioural neuroscience. The use of hamsters has declined, however, most likely due to the dearth of genetic tools available for these animals. Our laboratory uses hamsters to study acute social stress, and we are beginning to investigate the genetic mechanisms subserving defeat-induced behavioural change. We have been limited, however, by the lack of genetic resources available for hamsters...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28070978/testing-for-local-adaptation-and-evolutionary-potential-along-altitudinal-gradients-in-rainforest-drosophila-beyond-laboratory-estimates
#12
Eleanor K O'Brien, Megan Higgie, Alan Reynolds, Ary A Hoffmann, Jon R Bridle
Predicting how species will respond to the rapid climatic changes predicted this century is an urgent task. Species distribution models (SDMs) use the current relationship between environmental variation and species' abundances to predict the effect of future environmental change on their distributions. However, two common assumptions of SDMs are likely to be violated in many cases: (i) that the relationship of environment with abundance or fitness is constant throughout a species' range and will remain so in future and (ii) that abiotic factors (e...
January 10, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28070732/the-clinical-and-laboratory-spectrum-of-dedicator-of-cytokinesis-8-immunodeficiency-syndrome-in-patients-with-a-unique-mutation
#13
Arnon Broides, Amarilla B Mandola, Jacov Levy, Baruch Yerushalmi, Vered Pinsk, Michal Eldan, George Shubinsky, Nurit Hadad, Rachel Levy, Amit Nahum, Miriam Ben-Harosh, Atar Lev, Amos Simon, Raz Somech
Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patients with a unique mutation in DOCK8 gene by a retrospective medical record review. Ten patients from five consanguineous families and three tribes were included. Seven patients were homozygous for the c.C5134A, p.S1711X mutation, and the remaining three patients were their siblings manifesting hyper IgE syndrome features without a genetic diagnosis...
January 10, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28070529/low-prevalence-of-aeromonas-hydrophilain-infectious-diarrhea-samples-of-pediatric-patients-in-arak-iran
#14
Abbasi Elnaz, Khansari-Nejad Behzad, Abtahi Hamid, Akbari Majid, Ghaznavi-Rad Ehsanollah
BACKGROUND: Aeromonashydrophila (A. hydrophila) is an aquatic bacterium that can cause a spectrum of infectious diseases, including both gastrointestinal and extraintestinal infections. Due to the high rate of diarrheal infections in pediatric patients in central Iran, this study was designed to determine the frequency of A. hydrophila in diarrhea samples from children in this region. METHODS: In this descriptive cross-sectional study, diarrheal stool specimens were collected from 200 children admitted between February and October of 2015 to educational and medical centers affiliated with the Arak University of Medical Sciences...
October 2016: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/28069659/mrsa-strains-carrying-the-novel-mecc-gene-full-genome-sequencing-identifies-in-the-genetic-background-several-determinants-that-modulate-the-resistant-phenotype
#15
Catarina Milheiriço, Hermínia de Lencastre, Alexander Tomasz
Most MRSA strains are resistant to beta-lactam antibiotics due to the presence of the mecA gene encoding an extra penicillin-binding protein (PBP2A) that has low affinity to virtually all beta-lactam antibiotics. Recently, a new resistance determinant - the mecC gene - was identified in S. aureus isolates recovered from humans and dairy cattle. Although having typically low MICs to beta-lactam antibiotics, MRSA strains with the mecC determinant are also capable of expressing high levels of oxacillin resistance when in an optimal genetic background...
January 9, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28069184/sperm-aneuploidy-after-testicular-cancer-treatment-data-from-a-prospective-multicenter-study-performed-within-the-french-centre-d-%C3%A3-tude-et-de-conservation-des-oeufs-et-du-sperme-network
#16
Nathalie Rives, Marie Walschaerts, Véronique Setif, Sylvianne Hennebicq, Jacqueline Saias, Florence Brugnon, Jacques Auger, Isabelle Berthaut, Ethel Szerman, Myriam Daudin, Louis Bujan
OBJECTIVE: To study sperm aneuploidy in a population of testicular cancer (TC) patients treated with the use of either bleomycin-etoposide-cisplatin (BEP) chemotherapy or radiotherapy. DESIGN: Multicenter prospective longitudinal study of TC patients analyzed before treatment and after 3, 6, 12, and 24 months (T3-T24). PATIENT(S): Fifty-four TC patients and a control group of 10 fertile sperm donors. SETTING: University hospital laboratories...
January 6, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28069046/occurrence-of-emery-dreifuss-muscular-dystrophy-in-a-rural-setting-of-cameroon-a-case-report-and-review-of-the-literature
#17
Cyril Jabea Ekabe, Jules Kehbila, Carlson-Babila Sama, Benjamin Momo Kadia, Martin Hongieh Abanda, Gottlieb Lobe Monekosso
BACKGROUND: Emery-Dreifuss muscular dystrophy is a rare genetic muscular disease, presenting mainly with contractures, weakness and cardiac conduction abnormalities. Its clinical and laboratory similarities to other muscular dystrophies, and rarity poses diagnostic challenges, requiring a high index of suspicion in resource limited settings. CASE PRESENTATION: An 8 year old sub-Saharan male presented with rigidity and deformity of both elbows and ankles, and weakness of the upper limbs and lower limbs for duration of 4 months...
January 9, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28069032/glucocorticoid-receptor-gene-polymorphisms-in-hereditary-angioedema-with-c1-inhibitor-deficiency
#18
Zsuzsanna Zotter, Zsolt Nagy, Attila Patócs, Dorottya Csuka, Nóra Veszeli, Kinga Viktória Kőhalmi, Henriette Farkas
BACKGROUND: Hereditary angioedema caused by C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. C1-INH-HAE is characterized by edema-formation, which may occur in response to stress. The individual's response to stress stimuli is partly genetically determined. Activation of the hypothalamic-pituitary-adrenal axis results in the release of cortisol. In turn, the secreted gluco- and mineralocorticoids affect the metabolism, as well as the cardiovascular and immune systems...
January 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28068801/the-prevalence-of-lipoprotein-a-measurement-and-degree-of-elevation-among-2710-patients-with-calcific-aortic-valve-stenosis-in-an-academic-echocardiography-laboratory-setting
#19
Michael J Wilkinson, Gary S Ma, Calvin Yeang, Lawrence Ang, Monet Strachan, Anthony N DeMaria, Sotirios Tsimikas, Bruno Cotter
Lipoprotein(a; Lp[a]) and its associated oxidized phospholipids are causal, genetic risk factors for calcific aortic valve stenosis (CAVS). We determined the prevalence of Lp(a) measurement among 2710 patients with CAVS and 1369 control patients (∼50% of study group) without CAVS with an echocardiogram between January 2010 and February 2016 in an academic echocardiography laboratory. Lipoprotein(a) measurements were performed at a referral laboratory using an isoform-independent assay. The prevalence of any Lp(a) measurement was 4...
January 1, 2017: Angiology
https://www.readbyqxmd.com/read/28068418/paternity-outcomes-in-the-freshwater-gastropod-chilina-dombeiana-in-the-biob%C3%A3-o-river-chile
#20
Jéssica Bórquez, Antonio Brante
Studying the mating system of obligate aquatic organisms that inhabit river ecosystems is important for understanding its evolution as well as the role of biological and environmental factors in modulating population dynamics and species distributional patterns. Here, we studied the reproductive strategy of the Chilean endemic freshwater snail, Chilina dombeiana, in the Biobío River, one of the largest rivers in Chile. This species has a low potential for dispersal given the absence of a free-swimming larval stage (benthic larval development) and given that adults have a low capacity for mobility...
2017: PloS One
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