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https://www.readbyqxmd.com/read/28231462/the-complicated-relationship-between-gaucher-disease-and-parkinsonism-insights-from-a-rare-disease
#1
REVIEW
Elma Aflaki, Wendy Westbroek, Ellen Sidransky
The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric α-synuclein. While the underlying mechanisms are still debated, this complicated association is shedding light on the role of lysosomes in neurodegenerative disorders, demonstrating how insights from a rare disorder can direct research into the pathogenesis and therapy of seemingly unrelated common diseases...
February 22, 2017: Neuron
https://www.readbyqxmd.com/read/28231358/ags-sets-sights-on-better-care-more-responsive-policies-for-unbefriended-older-adults
#2
Ellen Flaherty
No abstract text is available yet for this article.
March 1, 2017: Journal of Gerontological Nursing
https://www.readbyqxmd.com/read/28230411/the-bilingual-adaptation-how-minds-accommodate-experience
#3
Ellen Bialystok
According to some estimates, more than half of the world's population is multilingual to some extent. Because of the centrality of language use to human experience and the deep connections between linguistic and nonlinguistic processing, it would not be surprising to find that there are interactions between bilingualism and cognitive and brain processes. The present review uses the framework of experience-dependent plasticity to evaluate the evidence for systematic modifications of brain and cognitive systems that can be attributed to bilingualism...
March 2017: Psychological Bulletin
https://www.readbyqxmd.com/read/28230406/test-retest-reliability-of-the-facial-expression-labeling-task
#4
Jennifer L Cecilione, Lance M Rappaport, Brad Verhulst, Dever M Carney, R J R Blair, Melissa A Brotman, Ellen Leibenluft, Daniel S Pine, Roxann Roberson-Nay, John M Hettema
Recognizing others' emotional expressions is vital for socioemotional development; impairments in this ability occur in several psychiatric disorders. Further study is needed to map the development of this ability and to evaluate its components as potential transdiagnostic endophenotypes. Before doing so, however, research is required to substantiate the test-retest reliability of scores of the face emotion identification tasks linked to developmental psychopathology. The current study estimated test-retest reliability of scores of one such task, the facial expression labeling task (FELT) among a sample of twin children (N = 157; ages 9-14)...
February 23, 2017: Psychological Assessment
https://www.readbyqxmd.com/read/28229829/six-minute-walk-test-in-or-out-in-evaluation-of-systemic-sclerosis-patients
#5
Els Vandecasteele, Kristof Thevissen, Karin Melsens, Filip De Keyser, Michel De Pauw, Ellen Deschepper, Saskia Decuman, Yves Piette, Guy Brusselle, Vanessa Smith
OBJECTIVES: Interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH) are the leading causes of death in systemic sclerosis (SSc) patients. Although the six-minute walk test (6MWT) is used for evaluating ILD and PAH in clinical practice, no data are available on six-minute walk distance (6MWD) and oxygen desaturation in SSc patients without ILD and PAH. METHODS: Prospectively collected data of the 6MWTs at baseline and 6-month follow-up of 300 consecutive SSc patients, included in the Ghent University Hospital Systemic Sclerosis Unit between May 2006 and April 2015 were analysed...
February 15, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28229350/-set-in-stone-or-ray-of-hope-parents-beliefs-about-cause-and-prognosis-after-genomic-testing-of-children-diagnosed-with-asd
#6
Marian Reiff, Eva Bugos, Ellen Giarelli, Barbara A Bernhardt, Nancy B Spinner, Pamela L Sankar, Surabhi Mulchandani
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child's CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result...
February 22, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28229341/assessment-of-cetuximab-induced-infusion-reactions-and-administration-rechallenge-at-an-academic-medical-center
#7
Ellen Burke, Michelle Rockey, Dennis Grauer, Dave Henry, Prakash Neupane
Cetuximab is approved for treatment of squamous cell carcinoma of the head and neck (SCCHN). Cetuximab is generally well tolerated, but does carry a black box warning for infusion reactions (IRs). Incidence of IR in clinical trials was 15-20% for all grades and 3-5% for grades III-IV. Retrospective studies reported a higher incidence of all grade IRs and grades III-IV IR in areas of the Southeastern United States. Information regarding rechallenge doses after an IR has not been well described. At our institution, we frequently rechallenge on the same day after an initial IR...
April 2017: Medical Oncology
https://www.readbyqxmd.com/read/28229329/predicting-parent-health-related-quality-of-life-evaluating-conceptual-models
#8
Ellen K Defenderfer, Tiffany M Rybak, W Hobart Davies, Kristoffer S Berlin
PURPOSE: Parents of children with chronic illnesses are at risk for poor health-related quality of life (HRQoL), with numerous identified risk factors, but the most informative statistical model considering their combined impact is unclear. The authors conceptualized risk for poor HRQoL using a summed model, comprehensive multivariate model, and latent profile analysis (LPA). METHODS: Community parents completed an online survey, providing information about demographics, child's chronic illness, family functioning, and parent and child HRQoL...
February 22, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28228562/pml-in-natalizumab-treated-multiple-sclerosis-modeling-errors-and-risk-miscalculations
#9
Ellen M Mowry, Justin C McArthur
No abstract text is available yet for this article.
February 22, 2017: Neurology
https://www.readbyqxmd.com/read/28228502/the-sudden-death-in-the-young-case-registry-collaborating-to-understand-and-reduce-mortality
#10
Kristin M Burns, Lauren Bienemann, Lena Camperlengo, Carri Cottengim, Theresa M Covington, Heather Dykstra, Meghan Faulkner, Rosemarie Kobau, Alexa B Erck Lambert, Heather MacLeod, Sharyn E Parks, Ellen Rosenberg, Mark W Russell, Carrie K Shapiro-Mendoza, Esther Shaw, Niu Tian, Vicky Whittemore, Jonathan R Kaltman
Knowledge gaps persist about the incidence of and risk factors for sudden death in the young (SDY). The SDY Case Registry is a collaborative effort between the National Institutes of Health, the Centers for Disease Control and Prevention, and the Michigan Public Health Institute. Its goals are to: (1) describe the incidence of SDY in the United States by using population-based surveillance; (2) compile data from SDY cases to create a resource of information and DNA samples for research; (3) encourage standardized approaches to investigation, autopsy, and categorization of SDY cases; (4) develop partnerships between local, state, and federal stakeholders toward a common goal of understanding and preventing SDY; and (5) support families who have lost loved ones to SDY by providing resources on bereavement and medical evaluation of surviving family members...
February 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28226692/tle-lateralization-using-whole-brain-structural-connectivity
#11
Esmaeil Davoodi-Bojd, Kost V Elisevich, Jason Schwalb, Ellen Air, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Kost V Elisevich, Jason Schwalb, Ellen Air, Hamid Soltanian-Zadeh, Hamid Soltanian-Zadeh, Kost V Elisevich, Esmaeil Davoodi-Bojd, Ellen Air, Jason Schwalb
A prerequisite of temporal lobe epilepsy (TLE) surgery is to lateralize the disease. Recent studies have shown the capability of diffusion weighted MRI (DWMRI) in lateralizing TLE patients. This has been achieved by analyzing diffusion parameters of specific white matter tracts or regions known to be involved in the disease; however, other brain regions and connections have not been investigated for TLE lateralization. Whole brain structural connectivity using DWMRI provides a wealth of information regarding the structural connections in the brain...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225664/historic-leadership
#12
Ellen F Johnsen, Katherine J Pohlman
School nursing practice establishes itself in the midst of both education and nursing philosophies, ethics, standards, laws, and regulations. Treading these two worlds is difficult at times and requires that a school nurse possess a strong foundational knowledge base, seek professional collaboration, and navigate conflicting professional demands in order to promote student and public safety. This article is Part 2 of a four-part series that recounts the inspiring story of a school nurse, Ellen Johnsen, who did just that back in the 1980s in Broken Arrow, Oklahoma...
March 2017: NASN School Nurse
https://www.readbyqxmd.com/read/28224167/keratinocyte-proliferation-and-differentiation-on-il-9-stimulation-an-explorative-in-vitro-study
#13
Hanna Niehues, Jos P H Smits, Diana Rodijk-Olthuis, Joost Schalkwijk, Ellen H van den Bogaard
is missing (Short communication).
February 22, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28223897/ellen-kamhi-phd-rn-herbal-support-for-the-hpa-axis
#14
Craig Gustafson
No abstract text is available yet for this article.
December 2016: Integrative Medicine
https://www.readbyqxmd.com/read/28223711/identification-of-novel-cancer-therapeutic-targets-using-a-designed-and-pooled-shrna-library-screen
#15
David Oliver, Hao Ji, Piaomu Liu, Alexander Gasparian, Ellen Gardiner, Samuel Lee, Adrian Zenteno, Lillian O Perinskaya, Mengqian Chen, Phillip Buckhaults, Eugenia Broude, Michael D Wyatt, Homayoun Valafar, Edsel Peña, Michael Shtutman
Targeted cancer therapeutics aim to exploit tumor-specific, genetic vulnerabilities specifically affecting neoplastic cells without similarly affecting normal cells. Here we performed sequencing-based screening of an shRNA library on a panel of cancer cells of different origins as well as normal cells. The shRNA library was designed to target a subset of genes previously identified using a whole genome screening approach. This focused shRNA library was infected into cells followed by analysis of enrichment and depletion of the shRNAs over the course of cell proliferation...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28222745/psoriasis-and-associated-variables-in-classification-and-outcome-of-juvenile-idiopathic-arthritis-an-eight-year-follow-up-study
#16
Maria Ekelund, Kristiina Aalto, Anders Fasth, Troels Herlin, Susan Nielsen, Ellen Nordal, Suvi Peltoniemi, Marite Rygg, Marek Zak, Lillemor Berntson
BACKGROUND: To study the impact of psoriasis and features associated with psoriasis on classification and outcome in a population-based follow-up cohort of children with juvenile idiopathic arthritis (JIA). METHODS: In all, 440 children with JIA were followed for a median of 8 years in a prospective Nordic population-based cohort study. Data for remission was available for 427 of these children. The presence of psoriasis, psoriasis-like rash, dactylitis, nail pitting, enthesitis, tenosynovitis and heredity was assessed in relation to ILAR classification and remission...
February 22, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28222542/ecologically-relevant-outcome-measure-for-post-inpatient-rehabilitation
#17
Carlos Marquez de la Plata, Devin Qualls, Patrick Plenger, James F Malec, Mary Ellen Hayden
BACKGROUND: Transfer of skills learned within the clinic environment to patients' home or community is important in post-inpatient brain injury rehabilitation (PBIR). Outcome measures used in PBIR assess level of independence during functional tasks; however, available functional instruments do not quantitate the environment in which the behaviors occur. OBJECTIVE: To examine the reliability and validity of an instrument used to assess patients' functional abilities while quantifying the amount of structure and distractions in the environment...
January 31, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28222339/everyday-memory-impairment-in-patients-with-temporal-lobe-epilepsy-caused-by-hippocampal-sclerosis
#18
Patrícia Rzezak, Ellen Marise Lima, Ana Carolina Gargaro, Erica Coimbra, Silvia de Vincentiis, Tonicarlo Rodrigues Velasco, João Pereira Leite, Geraldo F Busatto, Kette D Valente
OBJECTIVE: Patients with temporal lobe epilepsy caused by hippocampal sclerosis (TLE-HS) have episodic memory impairment. Memory has rarely been evaluated using an ecologic measure, even though performance on these tests is more related to patients' memory complaints. We aimed to measure everyday memory of patients with TLE-HS to age- and gender-matched controls. METHODS: We evaluated 31 patients with TLE-HS and 34 healthy controls, without epilepsy and psychiatric disorders, using the Rivermead Behavioral Memory Test (RBMT), Visual Reproduction (WMS-III) and Logical Memory (WMS-III)...
February 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28222240/a-computerized-family-planning-counseling-aid-a%C3%A2-pilot%C3%A2-study-evaluation-of-smart-choices
#19
Helen P Koo, Ellen K Wilson, Alexandra M Minnis
CONTEXT: Resource constraints may make it challenging for family planning clinics to provide comprehensive contraceptive counseling; technological tools that help providers follow recommended practices without straining resources merit evaluation. METHODS: A pilot study using a two-group, posttest-only experimental design evaluated Smart Choices, a computer-based tool designed to help providers offer more patient-centered counseling and enable patients to participate proactively in the counseling session...
February 21, 2017: Perspectives on Sexual and Reproductive Health
https://www.readbyqxmd.com/read/28222181/correction-genomic-and-clinical-effects-associated-with-a-relaxation-response-mind-body-intervention-in-patients-with-irritable-bowel-syndrome-and-inflammatory-bowel-disease
#20
Braden Kuo, Manoj Bhasin, Jolene Jacquart, Matthew A Scult, Lauren Slipp, Eric Isaac Kagan Riklin, Veronique Lepoutre, Nicole Comosa, Beth-Ann Norton, Allison Dassatti, Jessica Rosenblum, Andrea H Thurler, Brian C Surjanhata, Nicole N Hasheminejad, Leslee Kagan, Ellen Slawsby, Sowmya R Rao, Eric A Macklin, Gregory L Fricchione, Herbert Benson, Towia A Libermann, Joshua Korzenik, John W Denninger
[This corrects the article DOI: 10.1371/journal.pone.0123861.].
2017: PloS One
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