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https://www.readbyqxmd.com/read/28437723/clinical-course-and-disease-burden-in-patients-with-paroxysmal-nocturnal-hemoglobinuria-by-hemolytic-status
#1
Mustafa N Yenerel, Petra Muus, Amanda Wilson, Jeff Szer
Disease characteristics of patients enrolled in the International PNH Registry were assessed during two follow-up periods based on hemolytic status while untreated with eculizumab: Non-hemolytic cohort: follow-up time defined as time from disease start until last reported untreated lactate dehydrogenase (LDH) value <1.5×upper limit normal (ULN); Hemolytic cohort: follow-up time defined as time from LDH ≥1.5×ULN at or post-disease start, to most recent untreated follow-up. A total of 1012 patients met criteria for the Non-hemolytic cohort and 1565 patients for the Hemolytic cohort; median (min, max) years of follow-up were 2...
March 27, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28437692/stage-iv-colorectal-cancer-primary-site-and-patterns-of-distant-metastasis
#2
Jamaica R Robinson, Polly A Newcomb, Sheetal Hardikar, Stacey A Cohen, Amanda I Phipps
BACKGROUND: Although colorectal cancer (CRC) usually metastasizes to the liver and/or lungs, factors influencing the anatomic pattern of metastases remain poorly understood. METHODS: We assessed the relationship between primary CRC site and pattern of synchronous metastasis among 1202 individuals diagnosed with incident metastatic CRC between 2010 and 2014 and identified through the Seattle-Puget Sound Surveillance, Epidemiology, and End Results (SEER) registry...
April 21, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28436984/genomic-analyses-identify-hundreds-of-variants-associated-with-age-at-menarche-and-support-a-role-for-puberty-timing-in-cancer-risk
#3
Felix R Day, Deborah J Thompson, Hannes Helgason, Daniel I Chasman, Hilary Finucane, Patrick Sulem, Katherine S Ruth, Sean Whalen, Abhishek K Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina M Barbieri, Thibaud Boutin, Archie Campbell, Ellen Demerath, Ayush Giri, Chunyan He, Jouke J Hottenga, Robert Karlsson, Ivana Kolcic, Po-Ru Loh, Kathryn L Lunetta, Massimo Mangino, Brumat Marco, George McMahon, Sarah E Medland, Ilja M Nolte, Raymond Noordam, Teresa Nutile, Lavinia Paternoster, Natalia Perjakova, Eleonora Porcu, Lynda M Rose, Katharina E Schraut, Ayellet V Segrè, Albert V Smith, Lisette Stolk, Alexander Teumer, Irene L Andrulis, Stefania Bandinelli, Matthias W Beckmann, Javier Benitez, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E Bojesen, Manjeet K Bolla, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Linda Broer, Thomas Brüning, Julie E Buring, Harry Campbell, Eulalia Catamo, Stephen Chanock, Georgia Chenevix-Trench, Tanguy Corre, Fergus J Couch, Diana L Cousminer, Angela Cox, Laura Crisponi, Kamila Czene, George Davey Smith, Eco J C N de Geus, Renée de Mutsert, Immaculata De Vivo, Joe Dennis, Peter Devilee, Isabel Dos-Santos-Silva, Alison M Dunning, Johan G Eriksson, Peter A Fasching, Lindsay Fernández-Rhodes, Luigi Ferrucci, Dieter Flesch-Janys, Lude Franke, Marike Gabrielson, Ilaria Gandin, Graham G Giles, Harald Grallert, Daniel F Gudbjartsson, Pascal Guénel, Per Hall, Emily Hallberg, Ute Hamann, Tamara B Harris, Catharina A Hartman, Gerardo Heiss, Maartje J Hooning, John L Hopper, Frank Hu, David J Hunter, M Arfan Ikram, Hae Kyung Im, Marjo-Riitta Järvelin, Peter K Joshi, David Karasik, Manolis Kellis, Zoltan Kutalik, Genevieve LaChance, Diether Lambrechts, Claudia Langenberg, Lenore J Launer, Joop S E Laven, Stefania Lenarduzzi, Jingmei Li, Penelope A Lind, Sara Lindstrom, YongMei Liu, Jian'an Luan, Reedik Mägi, Arto Mannermaa, Hamdi Mbarek, Mark I McCarthy, Christa Meisinger, Thomas Meitinger, Cristina Menni, Andres Metspalu, Kyriaki Michailidou, Lili Milani, Roger L Milne, Grant W Montgomery, Anna M Mulligan, Mike A Nalls, Pau Navarro, Heli Nevanlinna, Dale R Nyholt, Albertine J Oldehinkel, Tracy A O'Mara, Sandosh Padmanabhan, Aarno Palotie, Nancy Pedersen, Annette Peters, Julian Peto, Paul D P Pharoah, Anneli Pouta, Paolo Radice, Iffat Rahman, Susan M Ring, Antonietta Robino, Frits R Rosendaal, Igor Rudan, Rico Rueedi, Daniela Ruggiero, Cinzia F Sala, Marjanka K Schmidt, Robert A Scott, Mitul Shah, Rossella Sorice, Melissa C Southey, Ulla Sovio, Meir Stampfer, Maristella Steri, Konstantin Strauch, Toshiko Tanaka, Emmi Tikkanen, Nicholas J Timpson, Michela Traglia, Thérèse Truong, Jonathan P Tyrer, André G Uitterlinden, Digna R Velez Edwards, Veronique Vitart, Uwe Völker, Peter Vollenweider, Qin Wang, Elisabeth Widen, Ko Willems van Dijk, Gonneke Willemsen, Robert Winqvist, Bruce H R Wolffenbuttel, Jing Hua Zhao, Magdalena Zoledziewska, Marek Zygmunt, Behrooz Z Alizadeh, Dorret I Boomsma, Marina Ciullo, Francesco Cucca, Tõnu Esko, Nora Franceschini, Christian Gieger, Vilmundur Gudnason, Caroline Hayward, Peter Kraft, Debbie A Lawlor, Patrik K E Magnusson, Nicholas G Martin, Dennis O Mook-Kanamori, Ellen A Nohr, Ozren Polasek, David Porteous, Alkes L Price, Paul M Ridker, Harold Snieder, Tim D Spector, Doris Stöckl, Daniela Toniolo, Sheila Ulivi, Jenny A Visser, Henry Völzke, Nicholas J Wareham, James F Wilson, Amanda B Spurdle, Unnur Thorsteindottir, Katherine S Pollard, Douglas F Easton, Joyce Y Tung, Jenny Chang-Claude, David Hinds, Anna Murray, Joanne M Murabito, Kari Stefansson, Ken K Ong, John R B Perry
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P < 5 × 10(-8)) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ∼7.4% of the population variance in age at menarche, corresponding to ∼25% of the estimated heritability. We implicate ∼250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues...
April 24, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28436831/gamma-power-in-rural-pakistani-children-links-to-executive-function-and-verbal-ability
#4
Amanda R Tarullo, Jelena Obradović, Brandon Keehn, Muneera A Rasheed, Saima Siyal, Charles A Nelson, Aisha K Yousafzai
Children in low- and middle-income countries are at high risk of cognitive deficits due to environmental deprivation that compromises brain development. Despite the high prevalence of unrealized cognitive potential, very little is known about neural correlates of cognition in this population. We assessed resting EEG power and cognitive ability in 105 highly disadvantaged 48-month-old children in rural Pakistan. An increase in EEG power in gamma frequency bands (21-30Hz and 31-45Hz) was associated with better executive function...
March 31, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/28436730/a-new-approach-to-managing-work-related-road-traffic-injury-the-development-of-a-health-investment-framework
#5
Amanda Warmerdam, Sharon Newnam, Dianne Sheppard, Mark Griffin, Mark Stevenson
Objective Statistics indicate that employees commuting or travelling as part of their work are over-represented in workplace injury and death. Despite this, many organisations are unaware of the factors within their organisations that are likely to influence potential reductions in work-related road traffic injury. Methods This paper presents a multi-level conceptual framework that identifies health investment as the central feature in reducing work-related road traffic injury. Within this framework, we explore factors operating at the individual-driver, workgroup-supervisor and organisational-senior management levels that create a mutually reinforcing system of safety...
February 7, 2017: Traffic Injury Prevention
https://www.readbyqxmd.com/read/28436568/effects-of-programmed-teaching-errors-on-acquisition-and-durability-of-self-care-skills
#6
Maeve G Donnelly, Amanda M Karsten
This investigation sheds light on necessary and sufficient conditions to establish self-care behavior chains among people with developmental disabilities. First, a descriptive assessment (DA) identified the types of teaching errors that occurred during self-care instruction. Second, the relative effects of three teaching errors observed during the DA were evaluated across two behavior chains for three participants. Third, the effects of individual teaching errors were studied with a third behavior chain per participant...
April 24, 2017: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/28436452/disrupted-neuronal-maturation-in-angelman-syndrome-derived-induced-pluripotent-stem-cells
#7
James J Fink, Tiwanna M Robinson, Noelle D Germain, Carissa L Sirois, Kaitlyn A Bolduc, Amanda J Ward, Frank Rigo, Stormy J Chamberlain, Eric S Levine
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cell-derived neurons from AS patients and unaffected controls. AS-derived neurons showed impaired maturation of resting membrane potential and action potential firing, decreased synaptic activity and reduced synaptic plasticity...
April 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28436160/compound-heterozygous-mutations-in-col1a1-associated-with-an-atypical-form-of-type-i-osteogenesis-imperfecta
#8
Amanda M Ackermann, Michael A Levine
Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause rare cases of Ehlers-Danlos syndrome (EDS), a disorder that primarily affects connective tissue and often includes reduced bone mass. Here we present a kindred of three young siblings ages 1-4 years old whose mother has a history of mild type I OI...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436127/tip110-deletion-impaired-embryonic-and-stem-cell-development-involving-down-regulation-of-stem-cell-factors-nanog-oct4-and-sox2
#9
Amanda Whitmill, Ying Liu, Khalid Amine Timani, Yinghua Niu, Johnny J He
HIV-1 Tat-interacting protein of 110 kDa, Tip110, plays important roles in multiple biological processes. In this study, we aimed to characterize the function of Tip110 in embryonic development. Transgenic mice lacking expression of a functional Tip110 gene (Tip110(-/-) ) died post-implantation, and Tip110(-/-) embryos exhibited developmental arrest between 8.5 and 9.5 days post coitum. However, in vitro cultures of Tip110(-/-) embryos showed that Tip110 loss did not impair embryo growth from the zygote to the blastocyst...
April 24, 2017: Stem Cells
https://www.readbyqxmd.com/read/28435915/impact-of-surgical-approach-on-complication-rates-after-elective-spinal-fusion-%C3%A2-3-levels-for-adult-spine-deformity
#10
Aladine A Elsamadicy, Owoicho Adogwa, Shay Behrens, Amanda Sergesketter, Angel Chen, Ankit I Mehta, Raul A Vasquez, Joseph Cheng, Carlos A Bagley, Isaac O Karikari
BACKGROUND: While there are variations in techniques and surgical approaches to spinal fusion, there is not a defined consensus on a recommended surgical approach. The aim of this study is to determine if there was a difference in intra- and post-operative complication rates between different surgical approaches after elective spinal fusion (≥3 levels) for adult spine deformity. METHODS: The medical records of 443 adult spine deformity patients undergoing elective spinal fusion (≥3) at a major academic institution from 2005 to 2015 were reviewed...
March 2017: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/28435785/impact-of-a-brief-intervention-on-cervical-health-literacy-a-waitlist-control-study-with-jailed-women
#11
Megha Ramaswamy, Jaehoon Lee, Joi Wickliffe, Molly Allison, Amanda Emerson, Patricia J Kelly
Jailed women are four-five times more likely to have had cervical cancer compared to women without criminal justice histories. Previous research has shown that an important contributor to cervical cancer risk, and perhaps lack of follow-up, is incarcerated women's low health literacy about broader reproductive health issues. Little work has been done to address this disparity. Thus, the objective of this study was to test the effectiveness of an intervention to improve incarcerated women's cervical health literacy and ultimately address cervical cancer disparities...
June 2017: Preventive Medicine Reports
https://www.readbyqxmd.com/read/28435465/hypertension-cerebrovascular-impairment-and-cognitive-decline-in-aged-a%C3%AE-pp-ps1-mice
#12
Maximilian Wiesmann, Valerio Zerbi, Diane Jansen, Dieter Lütjohann, Andor Veltien, Arend Heerschap, Amanda J Kiliaan
Cardiovascular risk factors, especially hypertension, are also major risk factors for Alzheimer's disease (AD). To elucidate the underlying vascular origin of neurodegenerative processes in AD, we investigated the relation between systolic blood pressure (SBP) cerebral blood flow (CBF) and vasoreactivity with brain structure and function in a 16-18 months old double transgenic AβPPswe/PS1dE9 (AβPP/PS1) mouse model for AD. These aging AβPP/PS1 mice showed an increased SBP linked to a declined regional CBF...
2017: Theranostics
https://www.readbyqxmd.com/read/28435279/use-of-direct-oral-anticoagulants-for-the-prevention-and-treatment-of-thromboembolic-disease-in-patients-with-reduced-renal-function-a-short-review-of-the-clinical-evidence
#13
REVIEW
Kristine C Willett, Amanda M Morrill
BACKGROUND: The use of direct oral anticoagulants (DOACs) is restricted by the limitations of clinical trials guiding therapy for patients with renal impairment, as many of these trials excluded patients with severe renal impairment. There are currently four agents available: dabigatran, rivaroxaban, apixaban, and edoxaban. The purpose of this review was to 1) describe current recommended dosing for each DOAC and published postmarketing data, including case reports, on the use of these agents in the renally impaired; and 2) discuss patient adherence and satisfaction and the cost of these agents...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28435216/pain-perception-description-after-advanced-surface-ablation
#14
Eva M Sobas, Sebastián Videla, Amanda Vázquez, Itziar Fernández, Miguel J Maldonado, José-Carlos Pastor
PURPOSE: The objective of this study was to characterize the evolution of ocular pain after advanced surface ablation (ASA) to improve strategies in postoperative pain management. METHODS: This was a multicenter, prospective, descriptive, cohort study. The inclusion criteria were healthy individuals ≥18 years old receiving bilateral alcohol-assisted surface ablation with epithelial removal. Pain intensity was evaluated with the visual analog scale (VAS) and the numeric pain rating scale before and after surgery...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28434317/the-demographic-genetic-and-clinical-characteristics-of-brazilian-subjects-enrolled-in-the-transthyretin-amyloidosis-outcomes-survey
#15
Márcia Waddington Cruz, Debora Foguel, Amanda Cardoso Berensztejn, Roberto Coury Pedrosa, Rajiv Mundayat, Moh-Lim Ong
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434270/what-is-stable-pain-control-a-prospective-longitudinal-study-to-assess-the-clinical-value-of-a-personalized-pain-goal
#16
Robin Fainsinger, Cheryl Nekolaichuk, Lara Fainsinger, Viki Muller, Lisa Fainsinger, Pablo Amigo, Amanda Brisebois, Sarah Burton-Macleod, Sunita Ghosh, Rebekah Gilbert, Yoko Tarumi, Vincent Thai, Gary Wolch
BACKGROUND: A universal consensus regarding standardized pain outcomes does not exist. The personalized pain goal has been suggested as a clinically relevant outcome measure. AIM: To assess the feasibility of obtaining a personalized pain goal and to compare a clinically based personalized pain goal definition versus a research-based study definition for stable pain. DESIGN: Prospective longitudinal descriptive study. MEASURES: The attending physician completed routine assessments, including a personalized pain goal and the Edmonton Classification System for Cancer Pain, and followed patients daily until stable pain control, death, or discharge...
April 1, 2017: Palliative Medicine
https://www.readbyqxmd.com/read/28433077/development-and-clinical-utility-of-a-blood-based-test-service-for-the-rapid-identification-of-actionable-mutations-in-non-small-cell-lung-carcinoma
#17
Hestia Mellert, Trudi Foreman, Leisa Jackson, Dianna Maar, Scott Thurston, Kristina Koch, Amanda Weaver, Samantha Cooper, Nicholas Dupuis, Ubaradka G Sathyanarayana, Jakkie Greer, Westen Hahn, Dawne Shelton, Paula Stonemetz, Gary A Pestano
Nearly 80% of cancer patients do not have genetic mutation results available at initial oncology consultation; up to 25% of patients begin treatment before receiving their results. These factors hinder the ability to pursue optimal treatment strategies. This study validates a blood-based genome-testing service that provides accurate results within 72 hours. We focused on targetable variants in advanced non-small cell lung carcinoma-epidermal growth factor receptor gene (EGFR) variant L858R, exon 19 deletion (ΔE746-A750), and T790M; GTPase Kirsten ras gene (KRAS) variants G12C/D/V; and echinoderm microtubule associated protein like and 4 anaplastic lymphoma receptor tyrosine kinase fusion (EML4-ALK) transcripts 1/2/3...
May 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28433054/technical-aspects-and-challenges-of-colorimetric-detection-with-microfluidic-paper-based-analytical-devices-%C3%AE-pads-a-review
#18
REVIEW
Giorgio Gianini Morbioli, Thiago Mazzu-Nascimento, Amanda M Stockton, Emanuel Carrilho
Paper-based devices are a leading alternative among the main analytical tools for point-of-care testing, due to their portability, low-cost, and ease-of-use. Colorimetric readouts are the most common method of detection in these microfluidic devices, enabling qualitative, semi-quantitative and fully quantitative analysis of multiple analytes. There is a multitude of ways to obtain a colorimetric output in such devices, including nanoparticles, dyes, redox and pH indicators, and each has unique drawbacks and benefits...
June 1, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28432823/-gerimedjc-the-twitter-complement-to-the-traditional-format-geriatric-medicine-journal-club
#19
Amanda I Gardhouse, Laura Budd, Seu Y C Yang, Camilla L Wong
Twitter is a public microblogging platform that overcomes physical limitations and allows unrestricted participation beyond academic silos, enabling interactive discussions. Twitter-based journal clubs have demonstrated growth, sustainability, and worldwide communication, using a hashtag (#) to follow participation. This article describes the first year of #GeriMedJC, a monthly 1-hour live, 23-hour asynchronous Twitter-based complement to the traditional-format geriatric medicine journal club. The Twitter moderator tweets from the handle @GeriMedJC; encourages use of #GeriMedJC; and invites content experts, study authors, and followers to participate in critical appraisal of medical literature...
April 22, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28432546/affective-cognitive-and-behavioral-outcomes-associated-with-a-false-positive-ovarian-cancer-screening-test-result
#20
Amanda T Wiggins, Edward J Pavlik, Michael A Andrykowski
While participation in cancer screening can facilitate early detection and improved prognosis, all screening tests yield some proportion of abnormal test results which are later determined benign. These false positive (FP) results can negatively impact affective, cognitive, and behavioral outcomes. Women participating in an ovarian cancer (OC) screening program receiving an abnormal screening test result (n = 375) were matched with women receiving normal results (n = 375). Both groups completed a baseline and 1- and 4-month follow-up assessments...
April 21, 2017: Journal of Behavioral Medicine
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