keyword
MENU ▼
Read by QxMD icon Read
search

Amanda

keyword
https://www.readbyqxmd.com/read/29775997/improved-acmg-compliant-in-silico-prediction-of-pathogenicity-for-missense-substitutions-encoded-by-tp53-variants
#1
Cristina Fortuno, Paul A James, Erin L Young, Bing Feng, Magali Olivier, Tina Pesaran, Sean V Tavtigian, Amanda B Spurdle
Clinical interpretation of germline missense variants represents a major challenge, including those in the TP53 Li-Fraumeni syndrome gene. Bioinformatic prediction is a key part of variant classification strategies. We aimed to optimize the performance of the Align-GVGD tool used for p53 missense variant prediction, and compare its performance to other bioinformatic tools (SIFT, PolyPhen-2) and ensemble methods (REVEL, BayesDel). Reference sets of assumed pathogenic and assumed benign variants were defined using functional and/or clinical data...
May 18, 2018: Human Mutation
https://www.readbyqxmd.com/read/29775956/typology-of-new-psychoactive-substance-use-among-the-general-australian-population
#2
Rachel Sutherland, Amy Peacock, Amanda Roxburgh, Monica J Barratt, Lucinda Burns, Raimondo Bruno
AIM: The aim of this study was to examine the typology of Australian illicit drug consumers to determine whether those who use new psychoactive substances (NPS) differ from those using other illicit substances. METHODS: Data were from the 2013 National Drug Strategy Household Survey, a representative population study; analyses were limited to participants reporting past year illicit drug use (including NPS; n = 3309). Latent class analysis identified groups based on past year substance use, and a weighted multivariable, multinomial regression model was used to examine characteristics associated with group membership...
May 3, 2018: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/29775750/the-effects-of-capn1-gene-inactivation-on-the-differential-expression-of-genes-in-skeletal-muscle
#3
William T Olive, Brittney N Keel, Amanda K Lindholm-Perry, Justyna Horodyska, Andrew P Foote
Protein turnover is required for muscle growth and regeneration and several proteolytic enzymes, including the calpains, degrade myofibrillar proteins during this process. In a previous experiment, phenotypic differences were observed between μ-calpain knockout (KO) and wild type (WT) mice, including nutrient accretion and fiber type differences. These changes were particularly evident as the animals aged. Thus, we utilized 18 mice (9 KO and 9 WT) to compare transcript abundance to identify differentially expressed genes (DEGs) at 52 wk of age...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29775742/ryanodine-receptor-ca-2-release-channel-post-translational-modification-central-player-in-cardiac-and-skeletal-muscle-disease
#4
Amanda Denniss, Angela F Dulhunty, Nicole A Beard
Calcium release from internal stores is a quintessential event in excitation-contraction coupling in cardiac and skeletal muscle. The ryanodine receptor Ca2+ release channel is embedded in the internal sarcoplasmic reticulum Ca2+ store, which releases Ca2+ into the cytoplasm, enabling contraction. Ryanodine receptors form the hub of a macromolecular complex extending from the extracellular space to the sarcoplasmic reticulum lumen. Ryanodine receptor activity is influenced by the integrated effects of associated co-proteins, ions, and post-translational phosphor and redox modifications...
May 15, 2018: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/29775123/do-we-know-what-to-do-with-our-nonagenarian-and-centenarian-patients-with-metastatic-colorectal-cancer-mcrc-results-from-the-south-australian-mcrc-registry
#5
Gonzalo Tapia Rico, Christos Karapetis, Amanda R Townsend, Cynthia Piantadosi, Rob Padbury, Amitesh Roy, Guy Maddern, James Moore, Scott Carruthers, David Roder, Timothy J Price
No abstract text is available yet for this article.
May 18, 2018: Acta Oncologica
https://www.readbyqxmd.com/read/29775100/phytoremediation-of-btex-and-naphthalene-from-produced-water-spill-sites-using-poaceae
#6
Amanda Rose Shores, Brittany Hethcock, Melinda Laituri
Surface spills of water produced from hydraulic fracturing can expose soil and groundwater to organics such as BTEX and naphthalene (BTEX&N) as well as high concentrations of salt. As an alternative to soil excavation, we evaluated the effectiveness of BTEX&N soil remediation using 2 grasses present in Colorado. Perennial ryegrass and foxtail barley were grown separately in pots in the greenhouse and exposed to salt or a synthesized produced-water slurry containing relevant levels of salt and BTEX&N...
July 3, 2018: International Journal of Phytoremediation
https://www.readbyqxmd.com/read/29774559/modeling-effects-of-risk-and-social-distance-on-vaccination-choice
#7
David P Jarmolowicz, Derek D Reed, Alex J Francisco, Jared M Bruce, Shea M Lemley, Amanda S Bruce
Despite vaccines' consistently demonstrated effectiveness, vaccination rates remain suboptimal due to vaccine refusal. Low vaccination rates are particularly problematic for individuals who cannot be vaccinated for medical reasons and thus must rely on herd immunity (i.e., protection of vulnerable individuals due to the high rate of vaccination of other-often socially distant-individuals). The current study uses a novel decision-making task to examine how three variables impacted participants' highest acceptable probability of side effects to their children: 1) the severity of the side effects their children experience, 2) the social distance to the beneficiary of the vaccination, and 3) the probability that the vaccine will prevent disease for that designated beneficiary...
May 17, 2018: Journal of the Experimental Analysis of Behavior
https://www.readbyqxmd.com/read/29774531/ertapenem-a-potent-treatment-for-clinical-and-quality-of-life-improvement-in-patients-with-hidradenitis-suppurativa
#8
Taylor L Braunberger, Nathan T Nartker, Cynthia L Nicholson, Amanda F Nahhas, Angela Parks-Miller, Zachary Hanna, Rachna Jayaprakash, Mayur S Ramesh, Pranita V Rambhatla, Iltefat H Hamzavi
BACKGROUND: A paucity of knowledge exists regarding the use of ertapenem in hidradenitis suppurativa. Our retrospective chart review and telephone interview aims to investigate the utility of intravenous ertapenem in severe, refractory hidradenitis suppurativa. METHODS: This retrospective chart review and telephone interview included patients with severe, refractory hidradenitis suppurativa treated with intravenous ertapenem between March 2013 and December 2016...
May 17, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29774201/investigation-of-experimental-factors-that-underlie-brca1-2-mrna-isoform-expression-variation-recommendations-for-utilizing-targeted-rna-sequencing-to-evaluate-potential-spliceogenic-variants
#9
Vanessa L Lattimore, John F Pearson, Margaret J Currie, Amanda B Spurdle, Bridget A Robinson, Logan C Walker
PCR-based RNA splicing assays are commonly used in diagnostic and research settings to assess the potential effects of variants of uncertain clinical significance in BRCA1 and BRCA2 . The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium completed a multicentre investigation to evaluate differences in assay design and the integrity of published data, raising a number of methodological questions associated with cell culture conditions and PCR-based protocols. We utilized targeted RNA-seq to re-assess BRCA1 and BRCA2 mRNA isoform expression patterns in lymphoblastoid cell lines (LCLs) previously used in the multicentre ENIGMA study...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29774062/-in-vivo-imaging-biomarkers-of-neuroinflammation-in-the-development-and-assessment-of-stroke-therapies-towards-clinical-translation
#10
REVIEW
Bastian Zinnhardt, Maximilian Wiesmann, Lisa Honold, Cristina Barca, Michael Schäfers, Amanda J Kiliaan, Andreas H Jacobs
Modulation of the inflammatory microenvironment after stroke opens a new avenue for the development of novel neurorestorative therapies in stroke. Understanding the spatio-temporal profile of (neuro-)inflammatory imaging biomarkers in detail thereby represents a crucial factor in the development and application of immunomodulatory therapies. The early integration of quantitative molecular imaging biomarkers in stroke drug development may provide key information about (i) early diagnosis and follow-up, (ii) spatio-temporal drug-target engagement (pharmacodynamic biomarker), (iii) differentiation of responders and non-responders in the patient cohort (inclusion/exclusion criteria; predictive biomarkers), and (iv) the mechanism of action...
2018: Theranostics
https://www.readbyqxmd.com/read/29773597/hematopoietic-stem-cell-loss-and-hematopoietic-failure-in-severe-aplastic-anemia-is-driven-by-macrophages-and-aberrant-podoplanin-expression
#11
Amanda McCabe, Julianne N P Smith, Angelica Costello, Jackson Maloney, Divya Katikaneni, Katherine C MacNamara
Severe aplastic anemia results from profound hematopoietic stem cell loss. T cells and interferon gamma have long been associated with severe aplastic anemia, yet the underlying mechanisms driving hematopoietic stem cell loss remain unknown. Using a mouse model of severe aplastic anemia, we demonstrate that interferon gamma-dependent hematopoietic stem cell loss required macrophages. Interferon gamma was necessary for bone marrow macrophage persistence, despite loss of other myeloid cells and hematopoietic stem cells...
May 17, 2018: Haematologica
https://www.readbyqxmd.com/read/29773482/a-model-for-leptospire-dynamics-and-control-in-the-norway-rat-rattus-norvegicus-the-reservoir-host-in-urban-slum-environments
#12
Amanda Minter, Peter J Diggle, Federico Costa, James Childs, Albert I Ko, Mike Begon
Leptospirosis is a zoonosis that humans can contract via contact with animal reservoirs directly or with water contaminated with their urine. The primary reservoir of pathogenic leptospires within urban slum environments is the Norway rat (Rattus norvegicus). Motivated by the annual outbreaks of human leptospirosis in slum urban settings, the within population infection dynamics of the Norway rat were investigated in Pau da Lima, an community in Salvador, Brazil. A mechanistic model of the dynamics of leptospire infection was informed by extensive field and laboratory data was developed and explored analytically...
May 5, 2018: Epidemics
https://www.readbyqxmd.com/read/29772801/ogt-o-glcnac-transferase-selectively-modifies-multiple-residues-unique-to-lamin-a
#13
Dan N Simon, Amanda Wriston, Qiong Fan, Jeffrey Shabanowitz, Alyssa Florwick, Tejas Dharmaraj, Sherket B Peterson, Yosef Gruenbaum, Cathrine R Carlson, Line M Grønning-Wang, Donald F Hunt, Katherine L Wilson
The LMNA gene encodes lamins A and C with key roles in nuclear structure, signaling, gene regulation, and genome integrity. Mutations in LMNA cause over 12 diseases ('laminopathies'). Lamins A and C are identical for their first 566 residues. However, they form separate filaments in vivo, with apparently distinct roles. We report that lamin A is β- O -linked N -acetylglucosamine- (O -GlcNAc)-modified in human hepatoma (Huh7) cells and in mouse liver. In vitro assays with purified O -GlcNAc transferase (OGT) enzyme showed robust O -GlcNAcylation of recombinant mature lamin A tails (residues 385⁻646), with no detectable modification of lamin B1, lamin C, or 'progerin' (Δ50) tails...
May 17, 2018: Cells
https://www.readbyqxmd.com/read/29772450/understanding-one-s-body-and-movements-from-the-perspective-of-young-adults-with-autism-a-mixed-methods-study
#14
Ingrid Bertilsson, Amanda Lundvik Gyllensten, Arve Opheim, Gunvor Gard, Catharina Sjödahl Hammarlund
BACKGROUND: There are but a few studies of how persons with autism perceive their bodies and movements. Difficulties in perceiving the surrounding world along with disturbed motor coordination and executive functions may affect physical and psychological development. AIMS: To explore the experiences of body and movements in young adults with autism and how two physiotherapeutic instruments may capture these experiences. PROCEDURES: Eleven young adults (16-22 years) with autism were interviewed and assessed using Bruininks-Oseretsky Test of Motor Proficiency (BOT2) and Body Awareness Scale Movement Quality and Experience (BAS MQ-E)...
May 14, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29771871/trends-in-antiretroviral-therapy-eligibility-and-coverage-among-children-aged-15-years-with-hiv-infection-20-pepfar-supported-sub-saharan-african-countries-2012-2016
#15
Amanda Burrage, Monita Patel, Kelsey Mirkovic, Eric Dziuban, Wondimu Teferi, Laura Broyles, Emilia Rivadeneira
Rapid disease progression and associated opportunistic infections contribute to high mortality rates among children aged <15 years with human immunodeficiency virus (HIV) infection (1). Antiretroviral therapy (ART) has decreased childhood HIV-associated morbidity and mortality rates over the past decade (2). As accumulating evidence revealed lower HIV-associated mortality with early ART initiation, the World Health Organization (WHO) guidelines broadened ART eligibility for children with HIV infection (2)...
May 18, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29771788/body-mass-index-and-the-risk-of-serious-non-aids-events-and-all-cause-mortality-in-treated-hiv-positive-individuals-d-a-d-cohort-analysis
#16
Amit C Achhra, Caroline Sabin, Lene Ryom, Camilla Hatleberg, Antonella d'Aminio Monforte, Stephane de Wit, Andrew Phillips, Christian Pradier, Rainer Weber, Peter Reiss, Wafaa El-Sadr, Fabrice Bonnet, Amanda Mocroft, Jens Lundgren, Matthew G Law
BACKGROUND: The relationship between body mass index (BMI) (weight (kg)/ height(m)) and serious non-AIDS events is not well understood. METHODS: We followed D:A:D study participants on antiretroviral therapy from their first BMI measurement to the first occurrence of the endpoint or end of follow-up (N=41,149 followed for 295,147 person-years). The endpoints were cardiovascular disease (CVD); diabetes; non-AIDS-defining cancers (NADCs) and BMI-NADCs (cancers known to be associated with BMI in general population); and all-cause mortality...
May 3, 2018: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/29771706/accidental-carbon-monoxide-poisoning-while-driving-a-case-report-with-review-of-the-literature
#17
Amanda O Fisher-Hubbard, Colin Appleford, Kilak Kesha, Carl J Schmidt, Avneesh Gupta
Carbon monoxide (CO) is the cause of a significant percentage of fatal poisonings in many countries. It is known that fatalities resulting from CO poisoning are underreported and/or misclassified. Carbon monoxide exposure while driving can occur due to faulty exhaust systems, defective ventilation systems, emission from other vehicles, and even cigarette smoking. We report the case of a 23-year-old woman who was involved in a low-speed motor vehicle collision and was found unresponsive in her vehicle due to CO poisoning...
May 16, 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29771558/longitudinal-associations-between-maternal-disclosure-of-past-alcohol-use-and-underage-college-drinking
#18
Lucy E Napper, Amanda R Derby
There has been relatively little research examining the relationship between parents' disclosure of their own underage (i.e., under 21 years) alcohol use and their children's alcohol-related attitudes and behaviors. While parental disclosure may improve trust and understanding within a relationship, it may also normalize or glamorize underage alcohol use. The current study examines the longitudinal relationships among mothers' disclosure of underage alcohol use, mothers' current alcohol use, and college students' alcohol-related attitudes and behaviors...
May 2018: Psychology of Addictive Behaviors: Journal of the Society of Psychologists in Addictive Behaviors
https://www.readbyqxmd.com/read/29771310/fingolimod-phosphate-inhibits-astrocyte-inflammatory-activity-in-mucolipidosis-iv
#19
Laura Weinstock, Amanda M Furness, Shawn Herron, Sierra S Smith, Sitara Sankar, Samantha G DeRosa, Dadi Gao, Molly E Mepyans, Anna Scotto Rosato, Diego L Medina, Ayelet Vardi, Natalia S Ferreira, Soo Min Cho, Anthony H Futerman, Susan A Slaugenhaupt, Levi B Wood, Yulia Grishchuk
Mucolipidosis IV (MLIV) is an orphan neurodevelopmental disease that causes severe neurologic dysfunction and loss of vision. Currently there is no therapy for MLIV. It is caused by loss of function of the lysosomal channel mucolipin-1, also known as TRPML1. Knockout of the Mcoln1 gene in a mouse model mirrors clinical and neuropathological signs in humans. Using this model, we previously observed robust activation of microglia and astrocytes in early symptomatic stages of disease. Here we investigate the consequence of mucolipin-1 loss on astrocyte inflammatory activation in vivo and in vitro and apply a pharmacological approach to restore Mcoln1-/- astrocyte homeostasis using a clinically approved immunomodulator, fingolimod...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29771271/discontinuing-treatment-against-medical-advice-the-role-of-perceived-autonomy-support-from-providers-in-relapsing-remitting-multiple-sclerosis
#20
Morgan Glusman, Amanda Bruce, Joanie Thelen, Julia Smith, Sharon Lynch, Delwyn Catley, Kimberley K Bennett, Jared Bruce
Background: Long-term medication adherence is problematic among patients with chronic medical conditions. To our knowledge, this was the first study to examine factors associated with nonadherence among patients with relapsing-remitting multiple sclerosis who discontinue disease-modifying treatments against medical advice. Purpose: To examine differences in perceived provider autonomy support between disease-modifying treatment-adherent relapsing-remitting multiple sclerosis patients and relapsing-remitting multiple sclerosis patients who discontinued disease-modifying treatments against medical advice...
May 16, 2018: Annals of Behavioral Medicine: a Publication of the Society of Behavioral Medicine
keyword
keyword
95496
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"