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https://www.readbyqxmd.com/read/28319562/translating-biomarkers-from-research-to-clinical-use-in-pediatric-neurocritical-care-focus-on-traumatic-brain-injury-and-cardiac-arrest
#1
Andrew J Prout, Michael S Wolf, Ericka L Fink
PURPOSE OF REVIEW: Traumatic brain injury (TBI) and cardiac arrest are important causes of morbidity and mortality in children. Improved diagnosis and outcome prognostication using validated biomarkers could allow clinicians to better tailor therapies for optimal efficacy. RECENT FINDINGS: Contemporary investigation has yielded plentiful biomarker candidates of central nervous system (CNS) injury, including macromolecules, genetic, inflammatory, oxidative, and metabolic biomarkers...
March 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28315830/paternal-induction-of-hybrid-dysgenesis-in-drosophila-melanogaster-is-weakly-correlated-with-both-p-element-and-hobo-element-dosage
#2
Satyam P Srivastav, Erin S Kelleher
Transposable elements (TEs) are virtually ubiquitous components of genomes, yet they often impose significant fitness consequences on their hosts. In addition to producing specific deleterious mutations by insertional inactivation, TEs also impose general fitness costs by inducing DNA damage and participating in ectopic recombination. These latter fitness costs are often assumed to be dosage-dependent, with stronger effects occurring in the presence of higher TE copy numbers. We test this assumption in Drosophila melanogaster by considering the relationship between the copy number of two active DNA transposons, P-element and hobo element, and the incidence of hybrid dysgenesis, a sterility syndrome associated with transposon activity in the germline...
March 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28314980/ex-post-assessment-of-genetically-modified-low-level-presence-in-canadian-flax
#3
Helen M Booker, Eric G Lamb, Stuart J Smyth
Canada is the world's largest producer and exporter of flaxseed. In 2009, DNA from deregistered genetically modified (GM) CDC Triffid was detected in a shipment of Canadian flaxseed exported to Europe, causing a large decrease in the amount of flax planted in Canada and a major shift in export markets. The flax industry in Canada undertook major changes to ensure the removal of transgenic flax from the supply chain. To demonstrate compliance, Canada adopted a protocol involving testing grain samples (post-harvest) using an RT-PCR test for the construct found in CDC Triffid...
March 17, 2017: Transgenic Research
https://www.readbyqxmd.com/read/28314682/hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome-an-update-and-review
#4
REVIEW
Viral M Patel, Marc Z Handler, Robert A Schwartz, W Clark Lambert
Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a rare genetic disorder that predisposes individuals to multiple cutaneous leiomyomas, renal cell carcinomas, and in women, uterine leiomyomas. Also known as Reed syndrome, it is caused by a germline heterozygous mutation of the fumarate hydratase tumor suppressor gene. HLRCC is associated with significant morbidity because of pain from cutaneous and uterine leiomyomas, the cutaneous pain often of unique character. Although genetic testing is currently considered the criterion standard to diagnose HLRCC, newer immunohistochemistry markers may provide rapid and cost effective alternatives to genetic testing...
March 14, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28303314/-genetic-tests-for-controlling-treatment-with-antidepressants
#5
T Bschor, C Baethge, C Hiemke, B Müller-Oerlinghausen
In clinical practice, there is a need for a more individualized selection of antidepressants and adequate dosage. The investigation of pharmacokinetically relevant genes is a promising approach to assist this selection. In the past 2 years, two commercially available tests have been subject of advertisement, a test from Stada, which analyses variants of the cytochrome P450 isoenzymes CYP2D6 and CYP2C19 and a test from HMNC Brain Health, which analyses variants of the ABCB1 gene. The costs for both kits are not covered by the statutory health insurance and it is therefore proposed that the patients are invoiced directly in the form of individual healthcare payment...
March 16, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28303131/multiplexed-single-intact-cell-droplet-digital-pcr-music-ddpcr-method-for-specific-detection-of-enterohemorrhagic-e-coli-ehec-in-food-enrichment-cultures
#6
Tanis C McMahon, Burton W Blais, Alex Wong, Catherine D Carrillo
Foodborne illness attributed to enterohemorrhagic E. coli (EHEC), a highly pathogenic subset of Shiga toxin-producing E. coli (STEC), is increasingly recognized as a significant public health issue. Current microbiological methods for identification of EHEC in foods often use PCR-based approaches to screen enrichment broth cultures for characteristic gene markers [i.e., Shiga toxin (stx) and intimin (eae)]. However, false positives arise when complex food matrices, such as beef, contain mixtures of eae-negative STEC and eae-positive E...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28301457/exploring-the-feasibility-of-delivering-standardized-genomic-care-using-ophthalmology-as-an-example
#7
Niall Davison, Katherine Payne, Martin Eden, Marion McAllister, Stephen A Roberts, Stuart Ingram, Graeme C M Black, Georgina Hall
PURPOSE: Broadening access to genomic testing and counseling will be necessary to realize the benefits of personalized health care. This study aimed to assess the feasibility of delivering a standardized genomic care model for inherited retinal dystrophy (IRD) and of using selected measures to quantify its impact on patients. METHODS: A pre-/post- prospective cohort study recruited 98 patients affected by IRD to receive standardized multidisciplinary care. A checklist was used to assess the fidelity of the care process...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28299394/caenorhabditis-elegans-as-a-powerful-alternative-model-organism-to-promote-research-in-genetic-toxicology-and-biomedicine
#8
REVIEW
Sebastian Honnen
In view of increased life expectancy the risk for disturbed integrity of genetic information increases. This inevitably holds the implication for higher incidence of age-related diseases leading to considerable cost increase in health care systems. To develop preventive strategies it is crucial to evaluate external and internal noxae as possible threats to our DNA. Especially the interplay of DNA damage response (DDR) and DNA repair (DR) mechanisms needs further deciphering. Moreover, there is a distinct need for alternative in vivo test systems for basic research and also risk assessment in toxicology...
March 15, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28298887/automated-operant-conditioning-in-the-mouse-home-cage
#9
Nikolas A Francis, Patrick O Kanold
Recent advances in neuroimaging and genetics have made mice an advantageous animal model for studying the neurophysiology of sensation, cognition, and locomotion. A key benefit of mice is that they provide a large population of test subjects for behavioral screening. Reflex-based assays of hearing in mice, such as the widely used acoustic startle response, are less accurate than operant conditioning in measuring auditory processing. To date, however, there are few cost-effective options for scalable operant conditioning systems...
2017: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/28295790/landscape-features-impact-connectivity-between-soil-populations-a-comparative-study-of-gene-flow-in-earthworms
#10
L Dupont, M Torres-Leguizamon, P René-Corail, J Mathieu
Landscape features are known to alter the spatial genetic variation of above ground organisms. Here, we tested the hypothesis that the genetic structure of below ground organisms also responds to landscape structure. Microsatellite markers were used to carry out a landscape genetic study of two endogeic earthworm species, Allolobophora chlorotica (N = 440, 8 microsatellites) and Aporrectodea icterica (N = 519, 7 microsatellites), in an agricultural landscape in the North of France, where landscape features were characterised with high accuracy...
March 13, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28295039/deciphering-the-mechanism-of-q145h-sftpc-mutation-unmasks-a-splicing-defect-and-explains-the-severity-of-the-phenotype
#11
Céline Delestrain, Stéphanie Simon, Abdel Aissat, Rachel Medina, Xavier Decrouy, Elodie Nattes, Agathe Tarze, Bruno Costes, Pascale Fanen, Ralph Epaud
Mutations in the gene encoding surfactant protein C (SFTPC) have led to a broad range of phenotypes from neonatal respiratory distress syndrome to adult interstitial lung disease. We previously identified the c.435G>C variant in the SFTPC gene associated with fatal neonatal respiratory distress syndrome in an infant girl. Although this variation is predicted to change glutamine (Q) at position 145 to histidine (H), its position at the last base of exon 4 and the severity of the phenotype suggested that it might also induce a splicing defect...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28286745/outcomes-of-an-international-workshop-on-preconception-expanded-carrier-screening-some-considerations-for-governments
#12
Caron M Molster, Karla Lister, Selina Metternick-Jones, Gareth Baynam, Angus John Clarke, Volker Straub, Hugh J S Dawkins, Nigel Laing
BACKGROUND: Consideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further, there is a lack of consistent guidance in the literature regarding the development of appropriate criteria for government assessment of expanded carrier screening. Given this, a workshop was held to identify key public policy issues related to preconception expanded carrier screening, which governments should consider when deciding whether to publicly fund such programs...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28284397/optimizing-the-diagnosis-and-management-of-dravet-syndrome-recommendations-from-a-north-american-consensus-panel
#13
Elaine C Wirrell, Linda Laux, Elizabeth Donner, Nathalie Jette, Kelly Knupp, Mary Anne Meskis, Ian Miller, Joseph Sullivan, Michelle Welborn, Anne T Berg
OBJECTIVES: To establish standards for early, cost-effective, and accurate diagnosis; optimal therapies for seizures; and recommendations for evaluation and management of comorbidities for children and adults with Dravet syndrome, using a modified Delphi process. METHODS: An expert panel was convened comprising epileptologists with nationally recognized expertise in Dravet syndrome and parents of children with Dravet syndrome, whose experience and understanding was enhanced by their active roles in Dravet syndrome associations...
March 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28282867/virus-resistance-is-not-costly-in-a-marine-alga-evolving-under-multiple-environmental-stressors
#14
Sarah E Heath, Kirsten Knox, Pedro F Vale, Sinead Collins
Viruses are important evolutionary drivers of host ecology and evolution. The marine picoplankton Ostreococcus tauri has three known resistance types that arise in response to infection with the Phycodnavirus OtV5: susceptible cells (S) that lyse following viral entry and replication; resistant cells (R) that are refractory to viral entry; and resistant producers (RP) that do not all lyse but maintain some viruses within the population. To test for evolutionary costs of maintaining antiviral resistance, we examined whether O...
March 8, 2017: Viruses
https://www.readbyqxmd.com/read/28279815/expression-of-the-heterologous-dunaliella-tertiolecta-fatty-acyl-acp-thioesterase-leads-to-increased-lipid-production-in-chlamydomonas-reinhardtii
#15
Kenneth Wei Min Tan, Yuan Kun Lee
Biofuel production from genetically-engineered microalgae is currently among the most widely studied strategies in generating renewable energy. However, microalgae currently suffer from low oil yields which limit the commercial feasibility of industrial-scale production. A major bottleneck in cost-efficient biofuel production from microalgae is the dilemma between biomass productivity and lipid accumulation. When grown under stressful culture conditions such as nitrogen depletion, microalgae accumulate large amounts of neutral lipids, but it comes at the expense of growth which negatively impacts overall lipid productivity...
March 6, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28273078/screening-of-deafness-causing-dna-variants-that-are-common-in-patients-of-european-ancestry-using-a-microarray-based-approach
#16
Denise Yan, Guangxin Xiang, Xingping Chai, Jie Qing, Haiqiong Shang, Bing Zou, Rahul Mittal, Jun Shen, Richard J H Smith, Yao-Shan Fan, Susan H Blanton, Mustafa Tekin, Cynthia Morton, Wanli Xing, Jing Cheng, Xue Zhong Liu
The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL), GJB2, GJB6, SLC26A4, and mitochondrial (mt) MT-RNR1 and MTTS are the major contributors. In order to provide a faster, more comprehensive and cost effective assay, we constructed a DNA fluidic array, CapitalBioMiamiOtoArray, for the detection of sequence variants in five genes that are common in most populations of European descent...
2017: PloS One
https://www.readbyqxmd.com/read/28270811/animal-models-of-leptospirosis-of-mice-and-hamsters
#17
REVIEW
Maria Gomes-Solecki, Ignacio Santecchia, Catherine Werts
Pathogenic Leptospira sp. are spirochetal bacteria responsible for leptospirosis, an emerging worldwide zoonosis. These spirochetes are very successful pathogens that infect a wide range of hosts such as fish, reptiles, birds, marsupials, and mammals. Transmission occurs when chronically infected animals excrete live bacteria in their urine, contaminating the environment. Leptospira sp. enter their hosts through damaged skin and mucosa. Chronically infected rats and mice are asymptomatic and are considered as important reservoirs of the disease...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28270202/rheumatology-in-africa-challenges-and-opportunities
#18
EDITORIAL
Girish M Mody
Africa faces many health challenges despite sustained growth and development over the past decade. Contributory factors are the lack of financial resources, an inadequate health professional workforce, a high burden of communicable diseases, and an increasing burden of non-communicable diseases. Rheumatology services are limited or non-existent in many parts of sub-Saharan Africa. Over the past decade, partnerships with international academic institutions have resulted in some progress in the training of rheumatologists and health professionals and development of rheumatology services in countries such as Kenya, Nigeria, and Zambia...
March 7, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28270096/selecting-sequence-variants-to-improve-genomic-predictions-for-dairy-cattle
#19
Paul M VanRaden, Melvin E Tooker, Jeffrey R O'Connell, John B Cole, Derek M Bickhart
BACKGROUND: Millions of genetic variants have been identified by population-scale sequencing projects, but subsets of these variants are needed for routine genomic predictions or genotyping arrays. Methods for selecting sequence variants were compared using simulated sequence genotypes and real July 2015 data from the 1000 Bull Genomes Project. METHODS: Candidate sequence variants for 444 Holstein animals were combined with high-density (HD) imputed genotypes for 26,970 progeny-tested Holstein bulls...
March 7, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28270091/implications-of-hepatitis-c-virus-subtype-1a-migration-patterns-for-virus-genetic-sequencing-policies-in-italy
#20
Lize Cuypers, Bram Vrancken, Lavinia Fabeni, Nadia Marascio, Valeria Cento, Velia Chiara Di Maio, Marianna Aragri, Andrea Clemencia Pineda-Peña, Yoeri Schrooten, Kristel Van Laethem, Daniel Balog, Alfredo Focà, Carlo Torti, Frederik Nevens, Carlo Federico Perno, Anne-Mieke Vandamme, Francesca Ceccherini-Silberstein
BACKGROUND: In-depth phylogeographic analysis can reveal migration patterns relevant for public health planning. Here, as a model, we focused on the provenance, in the current Italian HCV subtype 1a epidemic, of the NS3 resistance-associated variant (RAV) Q80K, known to interfere with the action of NS3/4A protease inhibitor simeprevir. HCV1a migration patterns were analysed using Bayesian phylodynamic tools, capitalising on newly generated and publicly available time and geo-referenced NS3 encoding virus genetic sequence data...
March 7, 2017: BMC Evolutionary Biology
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