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https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#1
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149663/%C3%AE-keto-tetrahydrofuran-lignan-glucosides-from-the-bangladeshi-medicinal-plant-terminalia-citrina-inhibit-estradiol-e2-induced-proliferation-in-cancer-cells
#2
Md Abdul Muhit, Kaoru Umehara, Hiroshi Noguchi
EtOAc extract from the leaves of Terminalia citrina collected in Bangladesh were separated, and seven previously undescribed α-keto tetrahydrofuran lignan glucosides (terminalosides Q to W) were isolated and characterized. NOESY analysis of (1)H NMR spectra and ECD spectroscopic data analysis revealed the absolute stereochemistry of the tetrahydrofuran ring of the isolated constituents as being a (7S,8R,8'S)- configuration in terminalosides Q to U and a (7R,8R,8'S)- configuration in terminalosides V and W...
November 14, 2017: Phytochemistry
https://www.readbyqxmd.com/read/29149658/evaluating-casama-contextualized-semantic-maps-for-summarization-of-lung-cancer-studies
#3
Jean I Garcia-Gathright, Nicholas J Matiasz, Carlos Adame, Karthik V Sarma, Lauren Sauer, Nova F Smedley, Marshall L Spiegel, Jennifer Strunck, Edward B Garon, Ricky K Taira, Denise R Aberle, Alex A T Bui
OBJECTIVE: It is crucial for clinicians to stay up to date on current literature in order to apply recent evidence to clinical decision making. Automatic summarization systems can help clinicians quickly view an aggregated summary of literature on a topic. Casama, a representation and summarization system based on "contextualized semantic maps," captures the findings of biomedical studies as well as the contexts associated with patient population and study design. This paper presents a user-oriented evaluation of Casama in comparison to a context-free representation, SemRep...
November 3, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29149595/sterol-oxidation-mediates-stress-responsive-vms1-translocation-to-mitochondria
#4
Jason R Nielson, Eric K Fredrickson, T Cameron Waller, Olga Zurita Rendón, Heidi L Schubert, Zhenjian Lin, Christopher P Hill, Jared Rutter
Vms1 translocates to damaged mitochondria in response to stress, whereupon its binding partner, Cdc48, contributes to mitochondrial protein homeostasis. Mitochondrial targeting of Vms1 is mediated by its conserved mitochondrial targeting domain (MTD), which, in unstressed conditions, is inhibited by intramolecular binding to the Vms1 leucine-rich sequence (LRS). Here, we report a 2.7 Å crystal structure of Vms1 that reveals that the LRS lies in a hydrophobic groove in the autoinhibited MTD. We also demonstrate that the oxidized sterol, ergosterol peroxide, is necessary and sufficient for Vms1 localization to mitochondria, through binding the MTD in an interaction that is competitive with binding to the LRS...
November 16, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29149555/mapping-the-reactions-in-a-single-zero-valent-iron-nanoparticle
#5
Lan Ling, Xiao-Yue Huang, Meirong Li, Wei-Xian Zhang
Nanoscale zero-valent iron (nZVI) posseses unique functionalities for metal-metalloid removal and sequestration. So far, direct evidence on the heavy metal-iron reactions in the solid phase is still limited due to low concentration of heavy metals and small size of nanoparticles. In this work, angstrom-resolution spectral mappings on the reactions of nZVI with chromate, arsenate, nickel, silver, cesium, and zinc ions are presented. This work was achieved with spherical aberration-corrected scanning transmission electron microscopy integrated with high-sensitivity X-ray energy-dispersive spectroscopy scanning transmission electron microscopy (XEDS-STEM)...
November 17, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/29149523/amniocentesis-is-still-the-best-option-for-advanced-genomic-testing-in-case-of-fetal-malformations
#6
M C de Wit, E M Bunnik, A T J I Go, I D de Beaufort, R M W Hofstra, E A P Steegers, R J H Galjaard
No abstract text is available yet for this article.
November 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29149457/hmgb1-controls-liver-cancer-initiation-through-yap-dependent-aerobic-glycolysis
#7
Ruochan Chen, Shan Zhu, Xue-Gong Fan, Haichao Wang, Michael T Lotze, Herbert J Zeh, Timothy R Billiar, Rui Kang, Daolin Tang
Emerging studies have suggested that the Hippo pathway is involved in the tumorigenesis of hepatocellular carcinoma (HCC). However, the key regulator of the Hippo pathway in liver tumor metabolic reprogramming remains elusive. Here, we provide evidence to support that high mobility group box 1 (HMGB1), a chromosomal protein, plays a role in the regulation of the Hippo pathway during liver tumorigenesis. Cre/loxP recombination-mediated HMGB1 depletion in hepatocytes blocks diethylnitrosamine-induced liver cancer initiation in mice, whereas shRNA-mediated gene silencing of HMGB1 inhibits HCC cell proliferation...
November 17, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29149421/kribbella-podocarpi-sp-nov-isolated-from-the-leaves-of-a-yellowwood-tree-podocarpus-latifolius
#8
Sarah M Curtis, Iulia Norton, Gareth J Everest, Paul R Meyers
An endophytic actinobacterial strain was isolated from a yellowwood tree growing on the slope of Devil's Peak, Cape Town, South Africa. Analysis of the 16S rRNA gene showed that the strain belongs to the genus Kribbella. Phylogenetic analyses using the 16S rRNA gene and multilocus sequence analysis using the concatenated gene sequences of the gyrB, rpoB, relA, recA and atpD genes showed that strain YPL1(T) is closely related to the type strains of Kribbella karoonensis and Kribbella shirazensis. DDH experiments showed that strain YPL1(T) is a distinct genomic species from its close phylogenetic relative, K...
November 17, 2017: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/29149327/focused-time-lapse-analysis-reveals-novel-aspects-of-human-fertilization-and-suggests-new-parameters-of-embryo-viability
#9
G Coticchio, M Mignini Renzini, P V Novara, M Lain, E De Ponti, D Turchi, R Fadini, M Dal Canto
STUDY QUESTION: Can focused application of time-lapse microscopy (TLM) lead to a more detailed map of the morphokinetics of human fertilization, revealing novel or neglected aspects of this process? SUMMARY ANSWER: Intensive harnessing of TLM reveals novel or previously poorly characterised phenomena of fertilization, such as a cytoplasmic wave (CW) preceding pronuclear formation and kinetics of pronuclear chromatin polarization, thereby suggesting novel non-invasive biomarkers of embryo quality...
November 15, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29149250/modeling-the-causal-role-of-dna-methylation-in-the-association-between-cigarette-smoking-and-inflammation-in-african-americans-a-2-step-epigenetic-mendelian-randomization-study
#10
Min A Jhun, Jennifer A Smith, Erin B Ware, Sharon L R Kardia, Thomas H Mosley, Stephen T Turner, Patricia A Peyser, Sung Kyun Park
The association between cigarette smoking and inflammation is well known. However, the biological mechanisms behind the association are not fully understood, particularly the role of DNA methylation, which is known to be affected by smoking. Using 2-step epigenetic Mendelian randomization, we investigated the role of DNA methylation in the association between cigarette smoking and inflammation. In 822 African Americans from the Genetic Epidemiology Network of Arteriopathy, phase 2 (Jackson, Mississippi; 2000-2005), study population, we examined the association of cigarette smoking with DNA methylation using single nucleotide polymorphisms identified in previous genome-wide association studies of cigarette smoking...
November 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29149237/multimorbidity-among-persons-living-with-hiv-in-the-u-s
#11
Cherise Wong, Stephen J Gange, Richard D Moore, Amy C Justice, Kate Buchacz, Alison G Abraham, Peter F Rebeiro, John R Koethe, Jeffrey N Martin, Michael A Horberg, Cynthia M Boyd, Mari M Kitahata, Heidi M Crane, Kelly A Gebo, M John Gill, Michael J Silverberg, Frank J Palella, Pragna Patel, Hasina Samji, Jennifer Thorne, Charles S Rabkin, Angel Mayor, Keri N Althoff
Background: Age-associated conditions are increasingly common among persons living with HIV. A longitudinal investigation of their accrual is needed given their implications on clinical care complexity. We examined trends in the co-occurrence of age-associated conditions among persons living with HIV receiving clinical care, and differences in their prevalence by demographic subgroup. Methods: This cohort study was nested within the North American AIDS Cohort Collaboration on Research and Design...
November 15, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29149197/sieve-analysis-of-breakthrough-hiv-1-sequences-in-hvtn-505-identifies-vaccine-pressure-targeting-the-cd4-binding-site-of-env-gp120
#12
Allan C deCamp, Morgane Rolland, Paul T Edlefsen, Eric Sanders-Buell, Breana Hall, Craig A Magaret, Andrew J Fiore-Gartland, Michal Juraska, Lindsay N Carpp, Shelly T Karuna, Meera Bose, Steven LePore, Shana Miller, Annemarie O'Sullivan, Kultida Poltavee, Hongjun Bai, Kalpana Dommaraju, Hong Zhao, Kim Wong, Lennie Chen, Hasan Ahmed, Derrick Goodman, Matthew Z Tay, Raphael Gottardo, Richard A Koup, Robert Bailer, John R Mascola, Barney S Graham, Mario Roederer, Robert J O'Connell, Nelson L Michael, Merlin L Robb, Elizabeth Adams, Patricia D'Souza, James Kublin, Lawrence Corey, Daniel E Geraghty, Nicole Frahm, Georgia D Tomaras, M Juliana McElrath, Lisa Frenkel, Sheila Styrchak, Sodsai Tovanabutra, Magdalena E Sobieszczyk, Scott M Hammer, Jerome H Kim, James I Mullins, Peter B Gilbert
Although the HVTN 505 DNA/recombinant adenovirus type 5 vector HIV-1 vaccine trial showed no overall efficacy, analysis of breakthrough HIV-1 sequences in participants can help determine whether vaccine-induced immune responses impacted viruses that caused infection. We analyzed 480 HIV-1 genomes sampled from 27 vaccine and 20 placebo recipients and found that intra-host HIV-1 diversity was significantly lower in vaccine recipients (P ≤ 0.04, Q-values ≤ 0.09) in Gag, Pol, Vif and envelope glycoprotein gp120 (Env-gp120)...
2017: PloS One
https://www.readbyqxmd.com/read/29149195/age-of-heart-disease-presentation-and-dysmorphic-nuclei-in-patients-with-lmna-mutations
#13
Jason Q Core, Mehrsa Mehrabi, Zachery R Robinson, Alexander R Ochs, Linda A McCarthy, Michael V Zaragoza, Anna Grosberg
Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms, mechanisms, and progression of disease requires unbiased, quantitative, and high-throughput means of quantifying nuclear morphology. To accomplish this, we developed a method of automatically segmenting fluorescently stained nuclei in 2D microscopy images and then classifying them as normal or dysmorphic based on three geometric features of the nucleus using a package of Matlab codes...
2017: PloS One
https://www.readbyqxmd.com/read/29149191/resting-state-fmri-in-sleeping-infants-more-closely-resembles-adult-sleep-than-adult-wakefulness
#14
Anish Mitra, Abraham Z Snyder, Enzo Tagliazucchi, Helmut Laufs, Jed Elison, Robert W Emerson, Mark D Shen, Jason J Wolff, Kelly N Botteron, Stephen Dager, Annette M Estes, Alan Evans, Guido Gerig, Heather C Hazlett, Sarah J Paterson, Robert T Schultz, Martin A Styner, Lonnie Zwaigenbaum, Bradley L Schlaggar, Joseph Piven, John R Pruett, Marcus Raichle
Resting state functional magnetic resonance imaging (rs-fMRI) in infants enables important studies of functional brain organization early in human development. However, rs-fMRI in infants has universally been obtained during sleep to reduce participant motion artifact, raising the question of whether differences in functional organization between awake adults and sleeping infants that are commonly attributed to development may instead derive, at least in part, from sleep. This question is especially important as rs-fMRI differences in adult wake vs...
2017: PloS One
https://www.readbyqxmd.com/read/29149105/lgr5-expression-is-regulated-by-egf-in-early-colorectal-adenomas-and-governs-egfr-inhibitor-sensitivity
#15
R G Morgan, E Mortensson, D N Legge, B Gupta, T J Collard, A Greenhough, A C Williams
BACKGROUND: LGR5 serves as a co-receptor for Wnt/β-catenin signalling and marks normal intestinal stem cells; however, its role in colorectal cancer (CRC) remains controversial. LGR5(+) cells are known to exist outside the stem cell niche during CRC progression, and the requirement for epidermal growth factor (EGF) signalling within early adenomas remains to be fully elucidated. METHODS: Epidermal growth factor and gefitinib treatments were performed in EGF-responsive LGR5(+) early adenoma RG/C2 cells...
November 16, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/29148755/novel-anti-tubercular-6-dialkylaminopyrimidine-carboxamides-from-phenotypic-whole-cell-high-throughput-screening-of-a-softfocus-library-structure-activity-relationship-and-target-identification-studies
#16
Colin R Wilson, Richard K Gessner, Atica Moosa, Ronnett Seldon, Digby F Warner, Valerie Mizrahi, Candice Soares de Melo, Sandile B Simelane, Aloysius T Nchinda, Efrem Abay, Dale Taylor, Mathew Njoroge, Christel Brunschwig, Nina Lawrence, Helena I M Boshoff, Clifton E Barry, Frederick A Sirgel, Paul van Helden, C John Harris, Richard Gordon, Sonja Ghidelli-Disse, Hannah Pflaumer, Markus Boesche, Gerard Drewes, Olalla Sanz, Gracia Santos, Maria José Rebollo-Lopez, Beatriz Urones, Carolyn Selenski, Maria Jose Lafuente-Monasterio, Matthew Axtman, Joël Lelièvre, Lluis Ballell, Rudolf Mueller, Leslie J Street, Sandeep R Ghorpade, Kelly Chibale
A BioFocus DPI SoftFocus library of ~35,000 compounds was screened against Mycobacterium tuberculosis (Mtb) in order to identify novel hits with anti-tubercular activity. The hits were evaluated in biology triage assays to exclude compounds suggested to function via frequently encountered promiscuous mechanisms of action including inhibition of the QcrB subunit of the cytochrome bc1 complex, disruption of cell-wall homeostasis, and DNA damage. Among the hits which passed this screening cascade, a 6-dialkylaminopyrimidine carboxamide series was prioritized for hit to lead optimization...
November 17, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29148732/photocontrolled-release-of-doxorubicin-conjugated-through-a-thioacetal-photocage-in-folate-targeted-nanodelivery-systems
#17
Pamela T Wong, Shengzhuang Tang, Jayme Cannon, Dexin Chen, Rachel Sun, Jennifer Lee, James Phan, Ke Tao, Kang Sun, Biqiong Chen, James R Baker, Seok Ki Choi
Despite their proven ability for precise and targeted release, nanoplatform systems for photocontrolled delivery often face formidable synthetic challenges, in part, due to the paucity of advanced linker strategies. Here we report on a novel linker strategy using a thioacetal ortho-nitrobenzaldehyde (TNB) cage, demonstrating its application for delivery of doxorubicin (Dox) in two nanoscale systems. This photocleavable linker, TNB(OH), which presents two identical arms, each terminated with a hydroxyl functionality, was prepared in a single step from 6-nitroverataldehyde...
November 17, 2017: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29148630/men-exhibit-greater-fatigue-resistance-than-women-in-alternated-bench-press-and-leg-press-exercises
#18
Estêvão R Monteiro, James Steele, Jefferson S Novaes, Amanda F Brown, Mark T Cavanaugh, Jakob L Vingren, David G Behm
BACKGROUND: The purpose of this study was to evaluate the influence of sex, exercise order, and rest interval on neuromuscular fatigue resistance for an alternated strength training sequence of bench press (BP) and leg press (LP) exercises. METHODS: Twelve women and 16 men, both recreationally trained, performed four sessions in a random order: 1) BP followed by LP with three-minutes rest (BP+LP with rest), 2) LP followed by BP with three-minutes rest (LP+BP with rest), 3) BP followed by LP without rest interval (BP+LP no rest), and 4) LP followed by BP without rest interval (LP+BP no rest)...
November 17, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/29148609/fetal-brain-ultrasound-tutor-for-interactive-multiplanar-navigation-through-the-normal-fetal-brain
#19
EDITORIAL
T Ghi, A Dall'Asta, R Conturso, N Volpe, N Schivardi, V Monopoli, A Preziosa, B Tutschek
No abstract text is available yet for this article.
November 17, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29148576/free-breathing-abdominal-mri-improved-by-repeated-k-t-subsampling-and-artifact-minimization-rekam
#20
Mei-Lan Chu, Hing-Chiu Chang, Hsiao-Wen Chung, Mustafa R Bashir, Jing Cai, Lei Zhang, Duohua Sun, Nan-Kuei Chen
PURPOSE: We report an approach, termed Repeated k-t-subsampling and artifact-minimization (ReKAM), for removing motion artifacts in free-breathing abdominal MRI. The method is particularly valuable for challenging patients who may not hold their breath for a long time or have irregular respiratory rate. METHODS: The ReKAM framework comprises one acquisition module and two reconstruction modules. A fast MRI sequence is used to repeatedly acquire multiple sets of k-t space data...
November 17, 2017: Medical Physics
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