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https://www.readbyqxmd.com/read/29334628/production-and-characterization-of-human-induced-pluripotent-stem-cells-ipscs-from-joubert-syndrome-cssi001-a-2850
#1
Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29334537/isolated-central-nervous-system-chloroma-as-a-presenting-sign-of-relapsed-pediatric-acute-lymphoblastic-leukemia
#2
Jessica L Heath, Waitman K Aumann, Charles M Maxfield, Daniel S Wechsler
Central nervous system (CNS) chloromas are an exceedingly rare presentation of CNS relapse in acute lymphoblastic leukemia (ALL). We report a relapsed ALL patient who presented with 2 separate chloromas and cerebrospinal fluid lymphoblastocytosis, and outline a treatment plan of systemic chemotherapy and CNS-directed radiation therapy. A review of the literature indicates that multiagent chemotherapy combined with CNS radiotherapy is effective, with hematopoietic stem cell transplantation used in half of reported cases...
January 12, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29334375/a-small-molecule-inhibitor-of-the-ubiquitin-activating-enzyme-for-cancer-treatment
#3
Marc L Hyer, Michael A Milhollen, Jeff Ciavarri, Paul Fleming, Tary Traore, Darshan Sappal, Jessica Huck, Judy Shi, James Gavin, Jim Brownell, Yu Yang, Bradley Stringer, Robert Griffin, Frank Bruzzese, Teresa Soucy, Jennifer Duffy, Claudia Rabino, Jessica Riceberg, Kara Hoar, Anya Lublinsky, Saurabh Menon, Michael Sintchak, Nancy Bump, Sai M Pulukuri, Steve Langston, Stephen Tirrell, Mike Kuranda, Petter Veiby, John Newcomb, Ping Li, Jing Tao Wu, Josh Powe, Lawrence R Dick, Paul Greenspan, Katherine Galvin, Mark Manfredi, Chris Claiborne, Benjamin S Amidon, Neil F Bence
The ubiquitin-proteasome system (UPS) comprises a network of enzymes that is responsible for maintaining cellular protein homeostasis. The therapeutic potential of this pathway has been validated by the clinical successes of a number of UPS modulators, including proteasome inhibitors and immunomodulatory imide drugs (IMiDs). Here we identified TAK-243 (formerly known as MLN7243) as a potent, mechanism-based small-molecule inhibitor of the ubiquitin activating enzyme (UAE), the primary mammalian E1 enzyme that regulates the ubiquitin conjugation cascade...
January 15, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29334356/p53-suppresses-mutagenic-rad52-and-pol%C3%AE-pathways-by-orchestrating-dna-replication-restart-homeostasis
#4
Sunetra Roy, Karl-Heinz Tomaszowski, Jessica W Luzwick, Soyoung Park, Jun Li, Maureen Murphy, Katharina Schlacher
Classically, p53 tumor suppressor acts in transcription, apoptosis, and cell cycle arrest. Yet, replication-mediated genomic instability is integral to oncogenesis, and p53 mutations promote tumor progression and drug-resistance. By delineating human and murine separation-of-function p53 alleles, we find that p53 null and gain-of-function (GOF) mutations exhibit defects in restart of stalled or damaged DNA replication forks driving genomic instability genetically separable from transcription activation. By assaying protein-DNA fork interactions in single cells, we unveil a p53-MLL3-enabled recruitment of MRE11 DNA replication restart nuclease...
January 15, 2018: ELife
https://www.readbyqxmd.com/read/29334149/evidence-based-practice-readiness-a-concept-analysis
#5
Jessica D Schaefer, John M Welton
AIM: To analyse and define the concept "evidence based practice readiness" in nurses. BACKGROUND: Evidence based practice readiness is a term commonly used in health literature, but without a clear understanding of what readiness means. Concept analysis is needed to define the meaning of evidence based practice readiness. METHOD: A concept analysis was conducted using Walker and Avant's method to clarify the defining attributes of evidence based practice readiness as well as antecedents and consequences...
January 15, 2018: Journal of Nursing Management
https://www.readbyqxmd.com/read/29334127/non-enzymatic-cross-linking-of-collagen-type-ii-fibrils-is-tuned-via-osmolality-switch
#6
Behdad Pouran, Parisa R Moshtagh, Vahid Arbabi, Jessica Snabel, Reinout Stoop, Jeffrey Ruberti, Jos Malda, Amir A Zadpoor, Harrie Weinans
An important aspect in cartilage ageing is accumulation of advanced glycation end products (AGEs) after exposure to sugars. Advanced glycation results in crosslinks formation between the collagen fibrils in articular cartilage, hampering their flexibility and making cartilage more brittle. In the current study, we investigate whether collagen crosslinking after exposure to sugars depends on the stretching condition of the collagen fibrils. Healthy equine cartilage specimens were exposed to L-threose sugar and placed in hypo-, iso- or hyper-osmolal conditions that expanded or shrank the tissue and changed the 3D conformation of collagen fibrils...
January 15, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/29332994/application-of-the-advanced-distillation-curve-method-to-the-comparison-of-diesel-fuel-oxygenates-2-5-7-10-tetraoxaundecane-tou-2-4-7-9-tetraoxadecane-tod-and-ethanol-fatty-acid-methyl-ester-fame-mixtures
#7
Jessica L Burger, Tara M Lovestead, Mark LaFollette, Thomas J Bruno
Although they are amongst the most efficient engine types, compression-ignition engines have difficulties achieving acceptable particulate emission and NOx formation. Indeed, catalytic after-treatment of diesel exhaust has become common and current efforts to reformulate diesel fuels have concentrated on the incorporation of oxygenates into the fuel. One of the best ways to characterize changes to a fuel upon the addition of oxygenates is to examine the volatility of the fuel mixture. In this paper, we present the volatility, as measured by the advanced distillation curve method, of a prototype diesel fuel with novel diesel fuel oxygenates: 2,5,7,10-tetraoxaundecane (TOU), 2,4,7,9-tetraoxadecane (TOD), and ethanol/fatty acid methyl ester (FAME) mixtures...
August 17, 2017: Energy & Fuels: An American Chemical Society Journal
https://www.readbyqxmd.com/read/29332757/activation-of-lower-limb-muscles-with-different-types-of-mount-in-hippotherapy
#8
Mariane Fernandes Ribeiro, Ana Paula Espindula, Domingos Emanuel Bevilacqua Júnior, Jéssica Aparecida Tolentino, Carolina Fioroni Ribeiro da Silva, Márcia Fernandes Araújo, Alex Abadio Ferreira, Vicente de Paula Antunes Teixeira
OBJECTIVES: To analyze muscle activation of lower limbs (LL) of subjects in hippotherapy sessions. METHODS: The study included 10 healthy subjects, five male and five female, with an average age of 24.03 (±4.06) years. Subjects underwent four hippotherapy sessions of 30 min with interval of one week, and each session was performed with a different type of mount material in the following order: 1st performed with saddle and feet in the stirrups (S1), 2nd with saddle and feet off the stirrups (S2), 3rd with blanket and feet off the stirrup (S3) and 4th with blanket and feet in the stirrups (S4)...
January 2018: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/29332753/cognitive-functional-therapy-cft-for-chronic-non-specific-neck-pain
#9
Ney Meziat-Filho, Maicom Lima, Jessica Fernandez, Felipe J J Reis
This case report presents the effect of Cognitive Functional Therapy (CFT) in a patient with chronic non-specific neck pain. The patient believed that pain signified tissue damage, and demonstrated pain catastrophizing, hypervigilance, stress sensitivity, and movement impairment of the neck, during extension and rotation. The CFT intervention integrated a cognitive approach with manual therapy and active exercises to encourage the patient to trust her neck again. One month after the first appointment, the patient had recovered confidence, and the pain and disability had disappeared almost entirely...
January 2018: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/29332629/psychobiological-stress-in-vital-exhaustion-findings-from-the-men-stress-40-study
#10
Emilou Noser, Susanne Fischer, Jessica Ruppen, Ulrike Ehlert
OBJECTIVE: Despite the increased risk for cardiovascular morbidity associated with vital exhaustion (VE), the underlying pathophysiological mechanisms remain unclear. Allostatic load may constitute the missing link between VE and cardiovascular diseases. The aim of the present study was to investigate whether men with different degrees of VE would differ in terms of allostatic load, chronic stress, and social support. METHODS: The Men Stress 40+ study sample consisted of N=121 apparently healthy men aged 40 to 75years...
February 2018: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/29332616/addressing-children-s-needs-in-disasters-a-regional-pediatric-tabletop-exercise
#11
Sarita Chung, Aaron H Gardner, David J Schonfeld, Jessica L Franks, Marvin So, Eric J Dziuban, Georgina Peacock
OBJECTIVE: Preparing and responding to the needs of children during public health emergencies continues to be challenging. The purpose of this study was to assess the usefulness of a tabletop exercise in initiating pediatric preparedness strategies and assessing the impact of the exercise on participants' understanding of and confidence in their roles during pediatric public health emergencies. METHODS: A tabletop exercise was developed to simulate a public health emergency scenario involving smallpox in a child, with subsequent spread to multiple states...
January 15, 2018: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/29332557/evaluation-of-a-victim-centered-trauma-informed-victim-notification-protocol-for-untested-sexual-assault-kits-saks
#12
Rebecca Campbell, Jessica Shaw, Giannina Fehler-Cabral
Throughout the United States, hundreds of thousands of sexual assault kits (SAKs) have not been submitted by the police for forensic DNA testing, which raises complex issues regarding how victims ought to be notified about what happened to their kits. In this project, we evaluated a victim-centered, trauma-informed victim notification protocol that was implemented in Detroit, Michigan. Most victims (84%) did not have a strong negative emotional reaction to notification, and most (57%) decided to reengage with the criminal justice system...
April 1, 2017: Violence Against Women
https://www.readbyqxmd.com/read/29332531/supporting-rape-survivors-through-the-criminal-injuries-compensation-scheme-an-exploration-of-english-and-welsh-independent-sexual-violence-advisors-experiences
#13
Olivia Smith, Jessica Galey
English and Welsh responses to rape have long been critically examined, leading to attempted improvements in the criminal justice system. Despite this, little attention has been paid to the Criminal Injuries Compensation Scheme (CICS) and the difficulties applying it to rape. To begin addressing this gap, researchers interviewed three, and qualitatively surveyed 22, Independent Sexual Violence Advisors. The findings suggest that CICS may not only reinforce rape myths and disadvantage vulnerable survivors, but is also a source of validation and contributes to survivor justice...
October 1, 2017: Violence Against Women
https://www.readbyqxmd.com/read/29332494/an-evaluation-of-adolescent-and-young-adult-re-victimization-experiences-problematic-substance-use-and-negative-consequences
#14
D J Angelone, Tiffany Marcantonio, Jessica Melillo
We investigated substance use and negative consequences in women who experienced an initial sexual assault (SA) in high school and subsequently in college. More than 650 participants completed questionnaires assessing substance use/consequences, SA history, and posttraumatic stress disorder (PTSD) symptomology. Revictimized women reported differential substance use/consequences relative to controls underscoring the need to conceptualize adolescence as a key developmental period with a unique pathway to a subsequent SA, especially in association with substance use...
June 1, 2017: Violence Against Women
https://www.readbyqxmd.com/read/29332400/multiscale-kinetic-modeling-reveals-ensemble-of-cl-h-exchange-pathways-in-clc-ec1-antiporter
#15
Heather B Mayes, Sangyun Lee, Andrew D White, Gregory A Voth, Jessica M J Swanson
Despite several years of research, the ion exchange mechanisms in chloride/proton antiporters and many other coupled transporters are not yet understood at the molecular level. Here, we present a novel approach to kinetic modeling and apply it to ion exchange in ClC-ec1. Our multiscale kinetic model (MKM) is developed by 1) calculating the state-to-state rate coefficients with reactive and polarizable molecular dynamics simulations, 2) optimizing these rates in a global kinetic network, and 3) predicting new electrophysiological results...
January 14, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29332202/non-amidated-and-amidated-members-of-the-c-type-allatostatin-ast-c-family-are-differentially-distributed-in-the-stomatogastric-nervous-system-of-the-american-lobster-homarus-americanus
#16
Andrew E Christie, Alexandra Miller, Rebecca Fernandez, Evyn S Dickinson, Audrey Jordan, Jessica Kohn, Mina C Youn, Patsy S Dickinson
The crustacean stomatogastric nervous system (STNS) is a well-known model for investigating neuropeptidergic control of rhythmic behavior. Among the peptides known to modulate the STNS are the C-type allatostatins (AST-Cs). In the lobster, Homarus americanus, three AST-Cs are known. Two of these, pQIRYHQCYFNPISCF (AST-C I) and GNGDGRLYWRCYFNAVSCF (AST-C III), have non-amidated C-termini, while the third, SYWKQCAFNAVSCFamide (AST-C II), is C-terminally amidated. Here, antibodies were generated against one of the non-amidated peptides (AST-C I) and against the amidated isoform (AST-C II)...
January 13, 2018: Invertebrate Neuroscience: IN
https://www.readbyqxmd.com/read/29331959/probenecid-improves-cardiac-function-in-patients-with-heart-failure-with-reduced-ejection-fraction-in-vivo-and-cardiomyocyte-calcium-sensitivity-in-vitro
#17
Nathan Robbins, Mark Gilbert, Mohit Kumar, James W McNamara, Patrick Daly, Sheryl E Koch, Ginger Conway, Mohamed Effat, Jessica G Woo, Sakthivel Sadayappan, Jack Rubinstein
BACKGROUND: Transient receptor potential vanilloid 2 is a calcium channel activated by probenecid. Probenecid is a Food and Drug Administration-approved uricosuric drug that has recently been shown to induce positive lusitropic and inotropic effects in animal models through cardiomyocyte transient receptor potential vanilloid 2 activation. The aim of this study was to test the hypothesis that oral probenecid can improve cardiac function and symptomatology in patients with heart failure with reduced ejection fraction and to further elucidate its calcium-dependent effects on myocyte contractility...
January 13, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29331954/dynamics-of-dignity-and-safety-a-discussion
#18
Dawn Goodwin, Jessica Mesman, Marian Verkerk, Suzanne Grant
No abstract text is available yet for this article.
January 13, 2018: BMJ Quality & Safety
https://www.readbyqxmd.com/read/29331890/deep-sequence-analysis-reveals-the-ovine-rumen-as-a-reservoir-of-antibiotic-resistance-genes
#19
Thomas C A Hitch, Ben J Thomas, Jessica C A Friedersdorff, Helen Ougham, Christopher J Creevey
Antibiotic resistance is an increasingly important environmental pollutant with direct consequences for human health. Identification of environmental sources of antibiotic resistance genes (ARGs) makes it possible to follow their evolution and prevent their entry into the clinical setting. ARGs have been found in environmental sources exogenous to the original source and previous studies have shown that these genes are capable of being transferred from livestock to humans. Due to the nature of farming and the slaughter of ruminants for food, humans interact with these animals in close proximity, and for this reason it is important to consider the risks to human health...
January 11, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29331851/rhizospheric-microorganisms-as-a-solution-for-the-recovery-of-soils-contaminated-by-petroleum-a-review
#20
REVIEW
Jéssica Janzen Dos Santos, Leila Teresinha Maranho
Petroleum is currently the world's main energy source, and its demand is expected to increase in coming years. Its intense exploitation can lead to an increase in the number of environmental accidents, such as spills and leaks, and an increase in the generation of environmental liabilities resulting from refining. Due to its hydrophobic characteristics and slow process of biodegradation, petroleum can remain in the environment for a long time and its toxicity can cause a negative impact on both terrestrial and aquatic ecosystems, with the main negative effects related to its carcinogenic potential for both animals and humans...
January 11, 2018: Journal of Environmental Management
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