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https://www.readbyqxmd.com/read/28749435/allelic-complexity-in-long-qt-syndrome-a-family-case-study
#1
Alberto Zullo, Giulia Frisso, Nicola Detta, Berardo Sarubbi, Emanuele Romeo, Angela Cordella, Carlos G Vanoye, Raffaele Calabrò, Alfred L George, Francesco Salvatore
Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more severe disease. Standard-of-care clinical genetic testing for this and other arrhythmia susceptibility syndromes improves the identification of complex genotypes. Therefore, it is important to distinguish between pathogenic mutations and benign rare variants...
July 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28749266/epidemiologic-evaluation-of-elephant-endotheliotropic-herpesvirus-3b-infection-in-an-african-elephant-loxodonta-africana
#2
Ellen Bronson, Michael McClure, Jennifer Sohl, Ellen Wiedner, Sherry Cox, Erin M Latimer, Virginia R Pearson, Gary S Hayward, Angela Fuery, Paul D Ling
This epidemiologic study follows a 5-yr-old male African elephant ( Loxodonta africana ) during an episode of hemorrhagic disease (HD) due to elephant endotheliotropic herpesvirus 3B (EEHV3B) utilizing data from complete blood counts, electrophoresis and acute phase protein analysis, and polymerase chain reaction (PCR) of multiple body fluids during and after the clinical episode. The elephant presented with sudden onset of marked lethargy and inappetence followed by hypersalivation, hyperemia of the conjunctivae and focally on the tongue, and swellings on the head and ventrum...
June 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28748996/clinical-applications-of-pharmacogenomics
#3
Luis Quiñones, Ángela Roco, Juan P Cayún, Paula Escalante, Carla Miranda, Nelson Varela, Francisca Meneses, Bastián Gallegos, Fausto Zaruma-Torres, Ismael Lares-Asseff
Pharmacogenomics is an emergent field aimed at tailoring pharmacological therapy. Genetic polymorphisms can modify the expression and function of enzymes and proteins involved in drug metabolism, affecting absorption, distribution, biotransformation and excretion as well as the drug-target interaction. Therefore, the presence of allelic variants will classify people as poor, extensive or rapid/ultra rapid metabolizers, modifying drug efficacy and safety. In this work, the state of art in relation to this discipline is presented and the genetic variants of enzymes that are involved in drug pharmacokinetics or pharmacodynamics are described...
April 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28748977/solvent-dependent-photo-induced-dynamics-in-a-non-rigidly-linked-zinc-phthalocyanine-perylenediimide-dyad-probed-using-ultrafast-spectroscopy
#4
Bryan Kudisch, Margherita Maiuri, Vicente M Blas-Ferrando, Javier Ortiz, Ángela Sastre-Santos, Gregory D Scholes
In this work, we characterize the energy and electron transfer kinetics of a zinc phthalocyanine-perylenediimide dyad (ZnPc-PDI) in various solvents using steady-state and tunable narrowband pump-probe spectroscopy. We fit the ultrafast data with global analysis techniques and find that upon excitation of the PDI moiety (pump pulse at 540 nm), the excitation energy transfer (EET) rate to the ZnPc moiety displays a solvent sensitivity that we attribute to changes in the relative equilibrium moiety orientation...
July 27, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28748366/clinical-features-of-psoriatic-arthritis-a-comprehensive-review-of-unmet-clinical-needs
#5
REVIEW
Angela McArdle, Stephen Pennington, Oliver FitzGerald
Psoriatic arthritis (PsA) is a form of inflammatory arthritis (IA) affecting approximately 0.25% of the population. It is a heterogeneous disorder associated with joint damage, disability, disfiguring skin disease and in severe cases, premature mortality. Inherently irreversible and frequently progressive, the process of joint damage begins at, or before, the clinical onset of disease. Early recognition and intervention is thus crucial to patient outcome. At disease onset, however, PsA often resembles other forms of arthritis-especially rheumatoid arthritis (RA)...
July 27, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28748135/biocatalytic-and-bioelectrocatalytic-approaches-for-the-reduction-of-carbon-dioxide-using-enzymes
#6
REVIEW
Stefanie Schlager, Angela Dibenedetto, Michele Aresta, Dogukan H Apaydin, Liviu M Dumitru, Helmut Neugebauer, Niyazi S Sariciftci
In the recent decade, CO2 has increasingly been regarded not only as a greenhouse gas but even more as a chemical feedstock for carbon-based materials. Different strategies have evolved to realize CO2 utilization and conversion into fuels and chemicals. In particular, biological approaches have drawn attention, as natural CO2 conversion serves as a model for many processes. Microorganisms and enzymes have been studied extensively for redox reactions involving CO2. In this review, we focus on monitoring nonliving biocatalyzed reactions for the reduction of CO2 by using enzymes...
June 2017: Energy Technol (Weinh)
https://www.readbyqxmd.com/read/28748071/fish-burger-enriched-by-olive-oil-industrial-by-product
#7
Annamaria Cedola, Angela Cardinali, Matteo Alessandro Del Nobile, Amalia Conte
Oil industry produces large volume of waste, which represents a disposal and a potential environmental pollution problem. Nevertheless, they are also promising sources of compounds that can be recovered and used as valuable substances. The aim of this work is to exploit solid olive by-products, in particular dry olive paste flour (DOPF) coming from Coratina cultivar, to enrich fish burger and enhance the quality characteristics. In particular, the addition of olive by-products leads to an increase of the phenolic content and the antioxidant activity; however, it also provokes a deterioration of sensory quality...
July 2017: Food Science & Nutrition
https://www.readbyqxmd.com/read/28747664/mutations-targeting-the-coagulation-pathway-are-enriched-in-brain-metastases
#8
Cristina Richichi, Lorenzo Fornasari, Giorgio E M Melloni, Paola Brescia, Monica Patanè, Massimiliano Del Bene, Dana A M Mustafa, Johan M Kros, Bianca Pollo, Giancarlo Pruneri, Angela Sciandivasci, Elisabetta Munzone, Francesco DiMeco, Pier Giuseppe Pelicci, Laura Riva, Giuliana Pelicci
Brain metastases (BMs) are the most common malignancy of the central nervous system. Recently it has been demonstrated that plasminogen activator inhibitor serpins promote brain metastatic colonization, suggesting that mutations in serpins or other members of the coagulation cascade can provide critical advantages during BM formation. We performed whole-exome sequencing on matched samples of breast cancer and BMs and found mutations in the coagulation pathway genes in 5 out of 10 BM samples. We then investigated the mutational status of 33 genes belonging to the coagulation cascade in a panel of 29 BMs and we identified 56 Single Nucleotide Variants (SNVs)...
July 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28747166/cascade-fumarate-hydratase-mutation-screening-allows-early-detection-of-kidney-tumour-a-case-report
#9
Melanie M Y Chan, Angela Barnicoat, Faiz Mumtaz, Michael Aitchison, Lucy Side, Helen Brittain, Alan W H Bates, Daniel P Gale
BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC)...
July 26, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28746951/-exercise-therapy-in-german-medical-rehabilitation-an-analysis-based-on-quantitative-routine-data
#10
Silke Brüggemann, Daniela Sewöster, Angela Kranzmann
Aim of this study This study describes the quantitative importance of exercise therapy in German medical rehabilitation based on 2014 routine data of the German Pension Insurance. It also shows changes in comparison with data from 2007. Methods Data from 710012 rehabilitation discharge letters comprising 83677802 treatments from central indications in medical rehabilitation were analysed descriptively. Results Overall 35.4% of treatments could be classified as exercise therapy. Total and relative duration, percentage of individual treatment and kind of exercise treatment varied between indications in 2007 as well as in 2014...
July 26, 2017: Die Rehabilitation
https://www.readbyqxmd.com/read/28746870/identification-of-a-genetic-variation-in-erap1-aminopeptidase-that-prevents-human-cytomegalovirus-mir-ul112-5p-mediated-immunoevasion
#11
Paolo Romania, Loredana Cifaldi, Benedetta Pignoloni, Nadia Starc, Valerio D'Alicandro, Ombretta Melaiu, Giuseppina Li Pira, Ezio Giorda, Rosalba Carrozzo, Monika Bergvall, Tomas Bergström, Lars Alfredsson, Tomas Olsson, Ingrid Kockum, Ilkka Seppälä, Terho Lehtimäki, Mikko A Hurme, Hartmut Hengel, Angela Santoni, Cristina Cerboni, Franco Locatelli, Mauro D'Amato, Doriana Fruci
Herein, we demonstrate that HCMV miR-UL112-5p targets ERAP1, thereby inhibiting the processing and presentation of the HCMV pp65495-503 peptide to specific CTLs. In addition, we show that the rs17481334 G variant, naturally occurring in the ERAP1 3' UTR, preserves ERAP1 from miR-UL112-5p-mediated degradation. Specifically, HCMV miR-UL112-5p binds the 3' UTR of ERAP1 A variant, but not the 3' UTR of ERAP1 G variant, and, accordingly, ERAP1 expression is reduced both at RNA and protein levels only in human fibroblasts homozygous for the A variant...
July 25, 2017: Cell Reports
https://www.readbyqxmd.com/read/28746860/integrating-rna-sequencing-into-neuro-oncology-practice
#12
REVIEW
David S Rogawski, Nicholas A Vitanza, Angela C Gauthier, Vijay Ramaswamy, Carl Koschmann
Malignant tumors of the central nervous system (CNS) cause substantial morbidity and mortality, yet efforts to optimize chemo- and radiotherapy have largely failed to improve dismal prognoses. Over the past decade, RNA sequencing (RNA-seq) has emerged as a powerful tool to comprehensively characterize the transcriptome of CNS tumor cells in one high-throughput step, leading to improved understanding of CNS tumor biology and suggesting new routes for targeted therapies. RNA-seq has been instrumental in improving the diagnostic classification of brain tumors, characterizing oncogenic fusion genes, and shedding light on intratumor heterogeneity...
July 8, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/28746784/whole-genome-sequencing-approaches-for-conservation-biology-advantages-limitations-and-practical-recommendations
#13
Angela P Fuentes-Pardo, Daniel E Ruzzante
Whole-genome resequencing (WGR) is a powerful method for addressing fundamental evolutionary biology questions that have not been fully resolved using traditional methods. WGR includes four approaches: the sequencing of individuals to a high depth of coverage with either unresolved (huWGR) or resolved haplotypes (hrWGR), the sequencing of population genomes to a high depth by mixing equimolar amounts of unlabelled-individual DNA (Pool-seq), and the sequencing of multiple individuals from a population to a low depth (lcWGR)...
July 26, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28745834/what-is-your-diagnosis-blood-film-from-a-black-bear-ursus-americanus
#14
Angela D Gwynn, Leslie Sharkey, Rick Gerhold, Anthony Holland, Edmund J Isaac, Shelly Michalski, Laura Teigen
No abstract text is available yet for this article.
July 26, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28745517/it-is-all-about-location-how-to-pinpoint-microorganisms-and-their-functions-in-multispecies-biofilms
#15
Angela M Costa, Filipe J Mergulhão, Romain Briandet, Nuno F Azevedo
Multispecies biofilms represent the dominant mode of life for the vast majority of microorganisms. Bacterial spatial localization in such biostructures governs ecological interactions between different populations and triggers the overall community functions. Here, we discuss the pros and cons of fluorescence-based techniques used to decipher bacterial species patterns in biofilms at single cell level, including fluorescence in situ hybridization and the use of genetically modified bacteria that express fluorescent proteins, reporting the significant improvements of those techniques...
July 26, 2017: Future Microbiology
https://www.readbyqxmd.com/read/28745100/patient-and-provider-centered-design-of-an-outpatient-diabetes-technology-clinic
#16
Angela M Cramer, Patricia Scalzo, Sarah M Bach, Yogish C Kudva
The number of US patients using diabetes technology is increasing, and sophisticated technologies continue to emerge. Patients using diabetes technology require access to providers prepared to offer care in this rapidly changing field. The authors sought to identify factors important to both patients using diabetes technology and providers caring for such patients. They redesigned the Diabetes Technology Clinic at an academic group practice in response to the needs of patients and providers. Ongoing analysis of best practices, patient experience, and provider feedback is essential to structuring diabetes technology clinics to meet the complex needs of patients requiring diabetes technology...
May 2017: Journal of Diabetes Science and Technology
https://www.readbyqxmd.com/read/28745010/the-detrimental-impact-of-extracellular-bacterial-proteases-on-wound-healing
#17
Sharon Lindsay, Angela Oates, Katie Bourdillon
In addition to clinical signs of infection (e.g. inflammation, purulence and pain), a microbial count of ≥10(5) colony-forming units/g has historically been used to define wound infection. However, it is increasingly recognised that, rather than a high bioburden level alone being detrimental to wound healing, it is the virulence of the invading microorganism and the host's immune status that can affect clinical outcomes. Bacteria, such as Pseudomonas aeruginosa, Staphylococcus aureus and Staphylococcus epidermidis, have developed a range of virulence factors to help them overcome host defences and proliferate within the underlying soft tissue...
July 25, 2017: International Wound Journal
https://www.readbyqxmd.com/read/28744795/prediction-of-fetal-darunavir-exposure-by-integrating-human-ex-vivo-placental-transfer-and-physiologically-based-pharmacokinetic-modeling
#18
Stein Schalkwijk, Aaron O Buaben, Jolien J M Freriksen, Angela P Colbers, David M Burger, Rick Greupink, Frans G M Russel
BACKGROUND: Fetal antiretroviral exposure is usually derived from the cord-to-maternal concentration ratio. This static parameter does not provide information on the pharmacokinetics in utero, limiting the assessment of a fetal exposure-effect relationship. OBJECTIVE: The aim of this study was to incorporate placental transfer into a pregnancy physiologically based pharmacokinetic model to simulate and evaluate fetal darunavir exposure at term. METHODS: An existing and validated pregnancy physiologically based pharmacokinetic model of maternal darunavir/ritonavir exposure was extended with a feto-placental unit...
July 25, 2017: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/28744066/effects-of-robot-assisted-training-for-the-unaffected-arm-in-patients-with-hemiparetic-cerebral-palsy-a-proof-of-concept-pilot-study
#19
Alessandro Picelli, Elisabetta La Marchina, Antonella Vangelista, Elena Chemello, Angela Modenese, Marialuisa Gandolfi, Elisa Francesca Maria Ciceri, Alessandra Bucci, Giada Zoccatelli, Leopold Saltuari, Andreas Waldner, Alessio Baricich, Andrea Santamato, Nicola Smania
On a voluntary basis, 10 adolescents with hemiparesis due to cerebral palsy and 11 neurologically healthy control subjects participated in this proof-of-concept pilot study. The aim was to examine the effects of robot-assisted training for the unaffected arm in patients with hemiparetic cerebral palsy. Baseline comparison between the unaffected arm of the hemiparetic patients with cerebral palsy and the dominant arm of healthy control subjects showed significant differences on the Jebsen-Taylor Hand Function test and action planning ability tests...
2017: Behavioural Neurology
https://www.readbyqxmd.com/read/28743969/human-amniotic-membrane-as-newly-identified-source-of-amniotic-fluid-pulmonary-surfactant
#20
Angela Lemke, José Carlos Castillo-Sánchez, Florian Prodinger, Asja Ceranic, Simone Hennerbichler-Lugscheider, Jesús Pérez-Gil, Heinz Redl, Susanne Wolbank
Pulmonary surfactant (PS) reduces surface tension at the air-liquid interface in the alveolar epithelium of the lung, which is required for breathing and for the pulmonary maturity of the developing foetus. However, the origin of PS had never been thoroughly investigated, although it was assumed to be secreted from the foetal developing lung. Human amniotic membrane (hAM), particularly its epithelial cell layer, composes the amniotic sac enclosing the amniotic fluid. In this study, we therefore aimed to investigate a potential contribution of the cellular components of the hAM to pulmonary surfactant found in amniotic fluid...
July 25, 2017: Scientific Reports
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