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https://www.readbyqxmd.com/read/28733131/preclinical-studies-for-a-phase-1-clinical-trial-of-autologous-hematopoietic-stem-cell-gene-therapy-for-sickle-cell-disease
#1
Fabrizia Urbinati, Jennifer Wherley, Sabine Geiger, Beatriz Campo Fernandez, Michael L Kaufman, Aaron Cooper, Zulema Romero, Filippo Marchioni, Lilith Reeves, Elizabeth Read, Barbara Nowicki, Elke Grassman, Shivkumar Viswanathan, Xiaoyan Wang, Roger P Hollis, Donald B Kohn
BACKGROUND AIMS: Gene therapy by autologous hematopoietic stem cell transplantation (HSCT) represents a new approach to treat sickle cell disease (SCD). Optimization of the manufacture, characterization and testing of the transduced hematopoietic stem cell final cell product (FCP), as well as an in depth in vivo toxicology study, are critical for advancing this approach to clinical trials. METHODS: Data are shown to evaluate and establish the feasibility of isolating, transducing with the Lenti/β(AS3)-FB vector and cryopreserving CD34(+) cells from human bone marrow (BM) at clinical scale...
July 18, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28725320/splice-site-variants-in-the-kcnq1-and-scn5a-genes-transcript-analysis-as-a-tool-in-supporting-pathogenicity
#2
Ivone U S Leong, Philippa A Dryland, Debra O Prosser, Stella W-S Lai, Mandy Graham, Martin Stiles, Jackie Crawford, Jonathan R Skinner, Donald R Love
BACKGROUND: Approximately 75% of clinically definite long QT syndrome (LQTS) cases are caused by mutations in the KCNQ1, KCNH2 and SCN5A genes. Of these mutations, a small proportion (3.2-9.2%) are predicted to affect splicing. These mutations present a particular challenge in ascribing pathogenicity. METHODS: Here we report an analysis of the transcriptional consequences of two mutations, one in the KCNQ1 gene (c.781_782delinsTC) and one in the SCN5A gene (c.2437-5C>A), which are predicted to affect splicing...
August 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28725022/action-video-games-improve-reading-abilities-and-visual-to-auditory-attentional-shifting-in-english-speaking-children-with-dyslexia
#3
Sandro Franceschini, Piergiorgio Trevisan, Luca Ronconi, Sara Bertoni, Susan Colmar, Kit Double, Andrea Facoetti, Simone Gori
Dyslexia is characterized by difficulties in learning to read and there is some evidence that action video games (AVG), without any direct phonological or orthographic stimulation, improve reading efficiency in Italian children with dyslexia. However, the cognitive mechanism underlying this improvement and the extent to which the benefits of AVG training would generalize to deep English orthography, remain two critical questions. During reading acquisition, children have to integrate written letters with speech sounds, rapidly shifting their attention from visual to auditory modality...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28722199/facial-expression-coding-in-children-and-adolescents-with-autism-reduced-adaptability-but-intact-norm-based-coding
#4
Gillian Rhodes, Nichola Burton, Linda Jeffery, Ainsley Read, Libby Taylor, Louise Ewing
Individuals with autism spectrum disorder (ASD) can have difficulty recognizing emotional expressions. Here, we asked whether the underlying perceptual coding of expression is disrupted. Typical individuals code expression relative to a perceptual (average) norm that is continuously updated by experience. This adaptability of face-coding mechanisms has been linked to performance on various face tasks. We used an adaptation aftereffect paradigm to characterize expression coding in children and adolescents with autism...
July 19, 2017: British Journal of Psychology
https://www.readbyqxmd.com/read/28715930/transcription-analysis-of-cochlear-development-in-minipigs
#5
Qinghua Wang, Yan Zhang, Weiwei Guo, Yu Liu, Hong Wei, Shiming Yang
CONCLUSIONS: The critical stage for cochlear gene regulation in the embryo is E49-E56. These data provide a valuable resource to help elucidate gene regulation in cochlear development and will benefit ear-related studies, especially those that focus on gene and stem cell therapies in hearing loss. OBJECTIVES: To investigate gene regulation in cochlear development and provide reference information for ear-related research. METHODS: Total RNA extraction from the Bama miniature pig cochlea was performed at five time points that covered most of the cochlea development process (E42, E49, E56, E91, P13)...
July 18, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28710348/spatiotemporal-expression-patterns-of-wheat-amino-acid-transporters-reveal-their-putative-roles-in-nitrogen-transport-and-responses-to-abiotic-stress
#6
Yongfang Wan, Robert King, Rowan A C Mitchell, Keywan Hassani-Pak, Malcolm J Hawkesford
Amino acid transporters have roles in amino acid uptake from soil, long-distance transport, remobilization from vegetative tissues and accumulation in grain. Critically, the majority of wheat grain nitrogen is derived from amino acids remobilized from vegetative organs. However, no systematic analysis of wheat AAT genes has been reported to date. Here, 283 full length wheat AAT genes representing 100 distinct groups of homeologs were identified and curated by selectively consolidating IWGSC CSSv2 and TGACv1 Triticum aestivum genome assemblies and reassembling or mapping of IWGSC CSS chromosome sorted reads to fill any gaps...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28707643/assessing-reading-levels-of-health-information-uses-and-limitations-of-flesch-formula
#7
Pranay Jindal, Joy C MacDermid
BACKGROUND: Written health information is commonly used by health-care professionals (HCPs) to inform and assess patients in clinical practice. With growing self-management of many health conditions and increased information seeking behavior among patients, there is a greater stress on HCPs and researchers to develop and implement readable and understandable health information. Readability formulas such as Flesch Reading Ease (FRE) and Flesch-Kincaid Reading Grade Level (FKRGL) are commonly used by researchers and HCPs to assess if health information is reading grade appropriate for patients...
January 2017: Education for Health: Change in Training & Practice
https://www.readbyqxmd.com/read/28706200/global-transcriptome-analysis-identifies-differentially-expressed-genes-related-to-lipid-metabolism-in-wagyu-and-holstein-cattle
#8
Wanlong Huang, Yuntao Guo, Weihua Du, Xiuxiu Zhang, Ai Li, Xiangyang Miao
Fat deposition of beef cattle varies between breeds. However, the regulation mechanism is still not elucidated completely at molecular level. In the present study, we comparatively analyzed transcriptome of subcutaneous adipose tissue between Wagyu and Holstein cattle with a significant difference in fat deposition to identify key genes associated with fat metabolism and adipogenesis by high-throughput RNA-seq technology. A total of 59,149,852 and 69,947,982 high quality reads were generated, respectively. With further analysis, 662 differentially expressed genes were identified...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28704975/current-knowledge-on-the-use-of-computational-toxicology-in-hazard-assessment-of-metallic-engineered-nanomaterials
#9
REVIEW
Guangchao Chen, Willie Peijnenburg, Yinlong Xiao, Martina G Vijver
As listed by the European Chemicals Agency, the three elements in evaluating the hazards of engineered nanomaterials (ENMs) include the integration and evaluation of toxicity data, categorization and labeling of ENMs, and derivation of hazard threshold levels for human health and the environment. Assessing the hazards of ENMs solely based on laboratory tests is time-consuming, resource intensive, and constrained by ethical considerations. The adoption of computational toxicology into this task has recently become a priority...
July 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28701181/fastq_brew-module-for-analysis-preprocessing-and-reformatting-of-fastq-sequence-data
#10
Damien M O'Halloran
BACKGROUND: Next generation sequencing datasets are stored as FASTQ formatted files. In order to avoid downstream artefacts, it is critical to implement a robust preprocessing protocol of the FASTQ sequence in order to determine the integrity and quality of the data. RESULTS: Here I describe fastQ_brew which is a package that provides a suite of methods to evaluate sequence data in FASTQ format and efficiently implements a variety of manipulations to filter sequence data by size, quality and/or sequence...
July 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28700021/nursing-management-practicum-impact-to-the-team-in-medical-surgical-units
#11
Clarice Maria Dall'Agnol, Andréia Peres de Oliveira, Adriana Serdotte Freitas Cardoso
Objective: Learn the perceptions of nursing professionals of a university hospital regarding the interactive process with nursing management practicum students. Methods: A qualitative, exploratory, descriptive study was conducted by means of 11 semi-structured interviews with nurses, nursing technicians and nursing aides in medical-surgical units. The information, collected between December 2013 and January 2014, was submitted to a thematic analysis and discussed according to Pichon-Rivière...
July 6, 2017: Revista Gaúcha de Enfermagem
https://www.readbyqxmd.com/read/28698708/pope-john-paul-ii-and-the-neurological-standard-for-the-determination-of-death-a-critical-analysis-of-his-address-to-the-transplantation-society
#12
Doyen Nguyen
The introduction of the "brain death" criterion constitutes a significant paradigm shift in the determination of death. The perception of the public at large is that the Catholic Church has formally endorsed this neurological standard. However, a critical reading of the only magisterial document on this subject, Pope John Paul II's 2000 address, shows that the pope's acceptance of the neurological criterion is conditional in that it entails a twofold requirement. It requires that certain medical presuppositions of the neurological standard are fulfilled, and that its philosophical premise coheres with the Church's teaching on the body-soul union...
May 2017: Linacre Quarterly
https://www.readbyqxmd.com/read/28694351/phosphorylation-of-ampk-by-upstream-kinases-is-required-for-activity-in-mammalian-cells
#13
Robin Willows, Matthew J Sanders, Bing Xiao, Bhakti R Patel, Stephen R Martin, Jon Read, Jon R Wilson, Julia Hubbard, Steven J Gamblin, David Carling
AMP-activated protein kinase (AMPK) plays a major role in regulating metabolism and has attracted significant attention as a therapeutic target for treating metabolic disorders. AMPK activity is stimulated more than one hundred fold by phosphorylation of threonine 172 (Thr(172)). Binding of AMP to the γ subunit allosterically activates the kinase. Additionally, a number of small molecules e.g. 991, have been identified that bind between the kinase domain and the carbohydrate binding module of the β subunit, stabilising their interaction and leading to activation...
July 10, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28693492/barriers-to-publishing-in-biomedical-journals-perceived-by-a-sample-of-french-researchers-results-of-the-diazepam-study
#14
Martin Duracinsky, Christophe Lalanne, Laurence Rous, Aichata Fofana Dara, Lesya Baudoin, Claire Pellet, Alexandre Descamps, Fabienne Péretz, Olivier Chassany
BACKGROUND: As publishing is essential but competitive for researchers, difficulties in writing and submitting medical articles to biomedical journals are disabling. The DIAzePAM (Difficultés des Auteurs à la Publication d'Articles Médicaux) survey aimed to assess the difficulties experienced by researchers in the AP-HP (Assistance Publique - Hôpitaux de Paris, i.e., Paris Hospitals Board, France), the largest public health institution in Europe, when preparing articles for biomedical journals...
July 10, 2017: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/28691100/nonvolatile-ferroelectric-domain-wall-memory
#15
Pankaj Sharma, Qi Zhang, Daniel Sando, Chi Hou Lei, Yunya Liu, Jiangyu Li, Valanoor Nagarajan, Jan Seidel
Ferroelectric domain walls are atomically sharp topological defects that separate regions of uniform polarization. The discovery of electrical conductivity in specific types of walls gave rise to "domain wall nanoelectronics," a technology in which the wall (rather than the domain) stores information. This paradigm shift critically hinges on precise nanoengineering of reconfigurable domain walls. Using specially designed nanofabricated electrodes and scanning probe techniques, we demonstrate a prototype nonvolatile ferroelectric domain wall memory, scalable to below 100 nm, whose binary state is defined by the existence or absence of conductive walls...
June 2017: Science Advances
https://www.readbyqxmd.com/read/28687333/predicting-novel-genes-and-pathways-associated-with-osteosarcoma-by-using-bioinformatics-analysis
#16
Bo Dong, Guozhu Wang, Jie Yao, Puwei Yuan, Wulin Kang, Liqiang Zhi, Xijing He
This aim of this study was to explore novel biomarkers related to osteosarcoma. The mRNA expression profile GSE41293 dataset was downloaded from the Gene Expression Omnibus (GEO) database, which included seven osteosarcoma and six control samples. After preprocessing, the FASTQ format reads of 13 samples were mapped to the reference sequences to screen for unique mapping reads. Differentially expressed genes (DEGs) were selected, which were then used for pathway and protein-protein interaction (PPI) network analyses...
July 4, 2017: Gene
https://www.readbyqxmd.com/read/28684768/cloning-and-characterization-of-the-first-serine-carboxypeptidase-from-a-plant-parasitic-nematode-radopholus-similis
#17
Xin Huang, Chun-Ling Xu, Wan-Zhu Chen, Chun Chen, Hui Xie
Radopholus similis is an important parasitic nematode of plants. Serine carboxypeptidases (SCPs) are peptidases that hydrolyse peptides and proteins and play critical roles in the development, invasion, and pathogenesis of certain parasitic nematodes and other animal pathogens. In this study, we obtained the full-length sequence of the SCP gene from R. similis (Rs-scp-1), which is 1665 bp long and includes a 1461-bp open reading frames encoding 486 amino acids with an 18-aa signal peptide. This gene is a double-copy gene in R...
July 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28680042/coherent-manipulation-of-valley-states-at-multiple-charge-configurations-of-a-silicon-quantum-dot-device
#18
Joshua S Schoenfield, Blake M Freeman, HongWen Jiang
Qubits based on silicon quantum dots are emerging as leading candidates for the solid-state implementation of quantum information processing. In silicon, valley states represent a degree of freedom in addition to spin and charge. Characterizing and controlling valley states is critical for the encoding and read-out of electrons-in-silicon-based qubits. Here, we report the coherent manipulation of a qubit, which is based on the two valley states of an electron confined in a silicon quantum dot. We carry out valley qubit operations at multiple charge configurations of the double quantum dot device...
July 5, 2017: Nature Communications
https://www.readbyqxmd.com/read/28678303/a-comparison-of-discovered-regularities-in-blood-glucose-readings-across-two-data-collection-approaches-used-with-a-type-1-diabetic-youth
#19
Victor Lee, Travis Thurston, Chris Thurston
BACKGROUND: Type 1 diabetes requires frequent testing and monitoring of blood glucose levels in order to determine appropriate type and dosage of insulin administration. This can lead to thousands of individual measurements over the course of a lifetime of a single individual, of which very few are retained as part of a permanent record. The third author, aged 9, and his family have maintained several years of written records since his diagnosis with Type 1 diabetes at age 20 months, and have also recently begun to obtain automated records from a continuous glucose monitor...
July 5, 2017: Methods of Information in Medicine
https://www.readbyqxmd.com/read/28673803/residents-and-program-director-perspectives-often-differ-on-optimal-preparation-strategies-and-the-value-of-the-orthopedic-in-training-examination
#20
Christopher L Camp, Ryan M Degen, Arlen D Hanssen, Joshua S Dines, Matthew D Karam, Norman S Turner
OBJECTIVES: The purpose of this work was to compare resident and program director (PD) perspectives on the value of the Orthopaedic In-Training Examination (OITE), resident study habits, and best resources for optimal performance. DESIGN: A national survey of orthopedic surgery residents and PDs. SETTING: Mayo Clinic, Rochester, MN PARTICIPANTS: The survey was completed by 445 (41.5%) eligible orthopedic surgery residents and 37 (77.1%) PDs...
June 30, 2017: Journal of Surgical Education
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