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https://www.readbyqxmd.com/read/28550267/amyloid-precursor-protein-haploinsufficiency-preferentially-mediates-brain-iron-accumulation-in-mice-transgenic-for-the-huntington-s-disease-mutation
#1
Kiersten Berggren, Sonal Agrawal, Julia A Fox, Justin Hildenbrand, Ryan Nelson, Ashley I Bush, Jonathan H Fox
BACKGROUND: Huntington's disease (HD) is an autosomal dominant disorder caused by a CAG expansion in the huntingtin gene that results in expression of mutant huntingtin protein. Iron accumulates in HD brain neurons. Amyloid precursor protein (APP) promotes neuronal iron export. However, the role of APP in brain iron accumulation in HD is unclear. OBJECTIVE: To determine the effects of APP insufficiency on HD in YAC128 mice. METHODS: We crossed APP hemizygous mice (APP+/-) with YAC128 mice that are transgenic (Tg) for human mutant huntingtin (hmHTT) to generate APP+/+ hmHTT-/-, APP+/- hmHTT-/-, APP+/+ hmHTT+/- and APP+/- hmHTT+/- progeny...
May 24, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28550247/two-novel-mutations-in-the-first-transmembrane-domain-of-presenilin1-cause-young-onset-alzheimer-s-disease
#2
Collin Y Liu, Yu Ohki, Taisuke Tomita, Satoko Osawa, Bruce R Reed, William Jagust, Victoria Van Berlo, Lee-Way Jin, Helena C Chui, Giovanni Coppola, John M Ringman
BACKGROUND: The presenilin-1 protein (PS1) is the catalytic unit of γ-secretase implicated in the production of abnormally long forms of amyloid-β (Aβ), including Aβ42, proteins thought critical in the pathogenesis of Alzheimer's disease (AD). In AD of autosomal dominant inheritance, the majority of pathogenic mutations have been found in the PSEN1 gene within which the location of the mutation can provide clues as to the mechanism of pathogenesis. OBJECTIVE: To describe clinical features of two novel mutations in the transmembrane portion 1 (TMD-1) of PSEN1 as well as biochemical features in one and neuropathological findings in the other...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550005/perceptions-of-patient-engagement-applications-during-pregnancy-a-qualitative-assessment-of-the-patient-s-perspective
#3
Maren Goetz, Mitho Müller, Lina Maria Matthies, Jenny Hansen, Anne Doster, Akos Szabo, Jan Pauluschke-Fröhlich, Harald Abele, Christof Sohn, Markus Wallwiener, Stephanie Wallwiener
BACKGROUND: With growing demand for medical information and health applications in pregnancy, the potential of electronic health (eHealth) and mobile health (mHealth) solutions in clinical care is increasingly unfolding. However, we still do not know how pregnant women engage with mobile apps, how such apps impact routine medical care, and whether benefit expectations are met. Whereas recent research has raised the subject of user distribution and analyzed the content of pregnancy applications, there is still a significant knowledge gap regarding what pregnant women like and dislike about pregnancy tools, along with how such interventions could be improved...
May 26, 2017: JMIR MHealth and UHealth
https://www.readbyqxmd.com/read/28550004/an-mhealth-app-for-supporting-quitters-to-manage-cigarette-cravings-with-short-bouts-of-physical-activity-a-randomized-pilot-feasibility-and-acceptability-study
#4
Mary Hassandra, Taru Lintunen, Martin S Hagger, Risto Heikkinen, Mauno Vanhala, Tarja Kettunen
BACKGROUND: While gains in reducing smoking rates in Finland have been made, prevalence rates are still substantial. Relapse rates among smokers engaged in quit-smoking programs are high. Physical activity has been proposed as one means to help smokers manage cravings. Software and apps on mobile phone and handheld devices offer an opportunity to communicate messages on how to use physical activity to manage cravings as part of quit-smoking programs. OBJECTIVE: We aimed to test the feasibility, acceptability, usability, and preliminary efficacy of an mHealth mobile phone app, Physical activity over Smoking (PhoS), to assist smokers in quitting smoking in a randomized controlled trial...
May 26, 2017: JMIR MHealth and UHealth
https://www.readbyqxmd.com/read/28550003/an-mhealth-framework-to-improve-birth-outcomes-in-benue-state-nigeria-a-study-protocol
#5
Echezona Edozie Ezeanolue, Semiu Olatunde Gbadamosi, John Olajide Olawepo, Juliet Iwelunmor, Daniel Sarpong, Chuka Eze, Amaka Ogidi, Dina Patel, Chima Onoka
BACKGROUND: The unprecedented coverage of mobile technology across the globe has led to an increase in the use of mobile health apps and related strategies to make health information available at the point of care. These strategies have the potential to improve birth outcomes, but are limited by the availability of Internet services, especially in resource-limited settings such as Nigeria. OBJECTIVE: Our primary objective is to determine the feasibility of developing an integrated mobile health platform that is able to collect data from community-based programs, embed collected data into a smart card, and read the smart card using a mobile phone-based app without the need for Internet access...
May 26, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28549757/mobile-phone-applications-in-parkinson-s-disease-a-systematic-review
#6
M Linares-Del Rey, L Vela-Desojo, R Cano-de la Cuerda
INTRODUCTION: Parkinson's disease (PD) is the second most common neurodegenerative disease. However, diagnosing, assessing, and treating these patients is a complex process requiring continuous monitoring. In this context, smartphones may be useful in the management of patients with PD. OBJECTIVE: The purpose of this study is to perform a systematic review of the literature addressing the use of mobile phone applications (apps) in PD. MATERIALS AND METHODS: We conducted a literature search of articles published in English or Spanish between 2011 and 2016 analysing or validating apps specifically designed for or useful in PD...
May 23, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28549455/inter-act-prevention-of-pregnancy-complications-through-an-e-health-driven-interpregnancy-lifestyle-intervention-study-protocol-of-a-multicentre-randomised-controlled-trial
#7
Annick Bogaerts, Lieveke Ameye, Margriet Bijlholt, Kelly Amuli, Dorine Heynickx, Roland Devlieger
BACKGROUND: Excessive maternal pre-pregnancy and gestational weight gain are related to pregnancy- and birth outcomes. The interpregnancy time window offers a unique opportunity to intervene in order to acquire a healthy lifestyle before the start of a new pregnancy. METHODS: INTER-ACT is an e-health driven multicentre randomised controlled intervention trial targeting women at high risk of pregnancy- and birth related complications. Eligible women are recruited for the study at day 2 or 3 postpartum...
May 26, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28549446/-gnparser-a-powerful-parser-for-scientific-names-based-on-parsing-expression-grammar
#8
Dmitry Y Mozzherin, Alexander A Myltsev, David J Patterson
BACKGROUND: Scientific names in biology act as universal links. They allow us to cross-reference information about organisms globally. However variations in spelling of scientific names greatly diminish their ability to interconnect data. Such variations may include abbreviations, annotations, misspellings, etc. Authorship is a part of a scientific name and may also differ significantly. To match all possible variations of a name we need to divide them into their elements and classify each element according to its role...
May 26, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28549113/restrictive-enlargement-of-the-pulmonary-annulus-at-repair-of-tetralogy-of-fallot-a-comparative-10-year-follow-up-study%C3%A2
#9
Jana Logoteta, Lars Dullin, Jan Hinnerk Hansen, Carsten Rickers, Mona Salehi Ravesh, Abdullah Al Bulushi, Ines Kristo, Philip Wegner, Michael Schumacher, Tim Attmann, Jens Scheewe, Hans-Heiner Kramer
OBJECTIVES: Since 1996, our centre performs restrictive enlargement of the pulmonary annulus at surgical repair of tetralogy of Fallot. A transannular patch is only used if the z-score of the pulmonary annulus is smaller than -2. We sought to determine whether this strategy reduces pulmonary insufficiency (PI) and reoperation rate compared to a nationwide contemporary cohort that has not been operated using a uniform strategy. METHODS: Eighty-seven tetralogy of Fallot patients were included in the study (Group 1)...
May 26, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28547526/rab21-a-novel-ps1-interactor-regulates-%C3%AE-secretase-activity-via-ps1-subcellular-distribution
#10
Zhenzhen Sun, Yujie Xie, Yintong Chen, Qinghu Yang, Zhenzhen Quan, Rongji Dai, Hong Qing
γ-Secretase has been a therapeutical target for its key role in cleaving APP to generate β-amyloid (Aβ), the primary constituents of senile plaques and a hallmark of Alzheimer's disease (AD) pathology. Recently, γ-secretase-associating proteins showed promising role in specifically modulating APP processing while sparing Notch signaling; however, the underlying mechanism is still unclear. A co-immunoprecipitation (Co-IP) coupled with mass spectrometry proteomic assay for Presenilin1 (PS1, the catalytic subunit of γ-secretase) was firstly conducted to find more γ-secretase-associating proteins...
May 25, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28547369/air-protection-programmes-in-poland-in-the-context-of-the-low-emission
#11
Janusz Adamczyk, Arkadiusz Piwowar, Maciej Dzikuć
The protection of the air against pollutants from individual boiler plants is a big challenge in Poland. It results mainly from the preference for coal, the national energy carrier, the use of old low-efficiency boilers and the location of Poland in a temperate climate where the heating period lasts at least 5 months. This article presents a wide range of activities aimed at the reduction of the environmental impact of the emissions of pollutants from individual heat sources-the so-called low emission. The article presents the extent of the national legislation resulting from the European Union regulations...
May 25, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28546141/clinical-insight-into-latent-variables-of-psychiatric-questionnaires-for-mood-symptom-self-assessment
#12
Athanasios Tsanas, Kate Saunders, Amy Bilderbeck, Niclas Palmius, Guy Goodwin, Maarten De Vos
BACKGROUND: We recently described a new questionnaire to monitor mood called mood zoom (MZ). MZ comprises 6 items assessing mood symptoms on a 7-point Likert scale; we had previously used standard principal component analysis (PCA) to tentatively understand its properties, but the presence of multiple nonzero loadings obstructed the interpretation of its latent variables. OBJECTIVE: The aim of this study was to rigorously investigate the internal properties and latent variables of MZ using an algorithmic approach which may lead to more interpretable results than PCA...
May 25, 2017: JMIR Mental Health
https://www.readbyqxmd.com/read/28546140/what-to-build-for-middle-agers-to-come-attractive-and-necessary-functions-of-exercise-promotion-mobile-phone-apps-a-cross-sectional-study
#13
Gen-Yih Liao, Yu-Tai Chien, Yu-Jen Chen, Hsiao-Fang Hsiung, Hsiao-Jung Chen, Meng-Hua Hsieh, Wen-Jie Wu
BACKGROUND: Physical activity is important for middle-agers to maintain health both in middle age and in old age. Although thousands of exercise-promotion mobile phone apps are available for download, current literature offers little understanding regarding which design features can enhance middle-aged adults' quality perception toward exercise-promotion apps and which factor may influence such perception. OBJECTIVES: The aims of this study were to understand (1) which design features of exercise-promotion apps can enhance quality perception of middle-agers, (2) whether their needs are matched by current functions offered in app stores, and (3) whether physical activity (PA) and mobile phone self-efficacy (MPSE) influence quality perception...
May 25, 2017: JMIR MHealth and UHealth
https://www.readbyqxmd.com/read/28546139/cognitive-testing-in-people-at-increased-risk-of-dementia-using-a-smartphone-app-the-ivitality-proof-of-principle-study
#14
Susan Jongstra, Liselotte Willemijn Wijsman, Ricardo Cachucho, Marieke Peternella Hoevenaar-Blom, Simon Pieter Mooijaart, Edo Richard
BACKGROUND: Smartphone-assisted technologies potentially provide the opportunity for large-scale, long-term, repeated monitoring of cognitive functioning at home. OBJECTIVE: The aim of this proof-of-principle study was to evaluate the feasibility and validity of performing cognitive tests in people at increased risk of dementia using smartphone-based technology during a 6 months follow-up period. METHODS: We used the smartphone-based app iVitality to evaluate five cognitive tests based on conventional neuropsychological tests (Memory-Word, Trail Making, Stroop, Reaction Time, and Letter-N-Back) in healthy adults...
May 25, 2017: JMIR MHealth and UHealth
https://www.readbyqxmd.com/read/28546138/mental-health-mobile-apps-for-preadolescents-and-adolescents-a-systematic-review
#15
REVIEW
Rebecca Grist, Joanna Porter, Paul Stallard
BACKGROUND: There are an increasing number of mobile apps available for adolescents with mental health problems and an increasing interest in assimilating mobile health (mHealth) into mental health services. Despite the growing number of apps available, the evidence base for their efficacy is unclear. OBJECTIVE: This review aimed to systematically appraise the available research evidence on the efficacy and acceptability of mobile apps for mental health in children and adolescents younger than 18 years...
May 25, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28546137/activity-recognition-for-persons-with-stroke-using-mobile-phone-technology-toward-improved-performance-in-a-home-setting
#16
Megan K O'Brien, Nicholas Shawen, Chaithanya K Mummidisetty, Saninder Kaur, Xiao Bo, Christian Poellabauer, Konrad Kording, Arun Jayaraman
BACKGROUND: Smartphones contain sensors that measure movement-related data, making them promising tools for monitoring physical activity after a stroke. Activity recognition (AR) systems are typically trained on movement data from healthy individuals collected in a laboratory setting. However, movement patterns change after a stroke (eg, gait impairment), and activities may be performed differently at home than in a lab. Thus, it is important to validate AR for gait-impaired stroke patients in a home setting for accurate clinical predictions...
May 25, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28545514/a-coordinated-pcp-cardiologist-telemedicine-model-pctm-in-china-s-community-hypertension-care-study-protocol-for-a-randomized-controlled-trial
#17
Lei Xu, Wei-Yi Fang, Fu Zhu, Hong-Guang Zhang, Kai Liu
BACKGROUND: Hypertension is a major risk factor for cardiovascular disease, and its control rate has remained low worldwide. Studies have found that telemonitoring blood pressure (BP) helped control hypertension in randomized controlled trials. However, little is known about its effect in a structured primary care model in which primary care physicians (PCPs) are partnering with cardiology specialists in electronic healthcare data sharing and medical interventions. This study aims to identify the effects of a coordinated PCP-cardiologist model that applies telemedicine tools to facilitate community hypertension control in China...
May 25, 2017: Trials
https://www.readbyqxmd.com/read/28545060/signet-a-signaling-network-data-simulator-to-enable-signaling-network-inference
#18
Elizabeth A Coker, Costas Mitsopoulos, Paul Workman, Bissan Al-Lazikani
Network models are widely used to describe complex signaling systems. Cellular wiring varies in different cellular contexts and numerous inference techniques have been developed to infer the structure of a network from experimental data of the network's behavior. To objectively identify which inference strategy is best suited to a specific network, a gold standard network and dataset are required. However, suitable datasets for benchmarking are difficult to find. Numerous tools exist that can simulate data for transcriptional networks, but these are of limited use for the study of signaling networks...
2017: PloS One
https://www.readbyqxmd.com/read/28544123/assessing-the-need-for-a-pre-exposure-prophylaxis-programme-using-the-social-media-app-grindr%C3%A2
#19
B Hampel, K Kusejko, D L Braun, J Harrison-Quintana, R Kouyos, J Fehr
OBJECTIVES: HIV pre-exposure prophylaxis (PrEP) is not approved in Switzerland and therefore must be paid for by the users themselves. We conducted a survey to find out whether men who have sex with men (MSM) in Switzerland are already taking PrEP, or are considering using it, and whether it is being taken under medical supervision or not. METHODS: Grindr® is a geosocial networking app for MSM. Between 5 and 24 January 2017, users of the app who were located in Switzerland by a global positioning system (GPS) were asked to participate in a ten-question survey on PrEP use...
May 19, 2017: HIV Medicine
https://www.readbyqxmd.com/read/28543566/preventing-recurrent-ankle-sprains-is-the-use-of-an-app-more-cost-effective-than-a-printed-booklet-results-of-a-rct
#20
M Van Reijen, I Vriend, W van Mechelen, E A Verhagen
OBJECTIVES: Recurrent ankle sprains can be reduced by following a neuromuscular training (NMT) program via a printed Booklet or a mobile application. Regarding the high incidence of ankle sprains, cost-effectiveness regarding implementation can have a large effect on total societal costs. DESIGN: In this economic analysis we evaluated whether the method of implementing a proven effective NMT program by using an App or a Booklet resulted in differences in injury incidence rates leading to costs and hence to differences in cost-effectiveness...
May 19, 2017: Scandinavian Journal of Medicine & Science in Sports
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