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https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#1
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28213603/women-s-experiences-with-cervical-cancer-screening-in-a-colposcopy-referral-clinic-in-cape-town-south-africa-a-qualitative-analysis
#2
Mariette Momberg, Matthys H Botha, Frederick H Van der Merwe, Jennifer Moodley
OBJECTIVE: The aim of this study was to explore and understand women's experience with cervical cancer screening and with the referral pathways for abnormal Papanicolau (Pap) smears. DESIGN AND SETTING: Focus group discussions were conducted with first time colposcopy clinic attendees at a tertiary hospital colposcopy clinic in Cape Town, South Africa during November 2014. A thematic analysis was conducted to identify key themes. Initial coding categories were drawn from the interview guide...
February 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/28213116/pushing-the-limits-of-ultra-high-resolution-human-brain-imaging-with-sms-epi-demonstrated-for-columnar-level-fmri
#3
David A Feinberg, An T Vu, Alexander Beckett
Encoding higher spatial resolution in simultaneous multi-slice (SMS) EPI is highly dependent on gradient performance, high density receiver coil arrays and pulse sequence optimization. We simulate gradient amplitude and slew rate determination of EPI imaging performance in terms of minimum TE, echo spacing (ES) and spatial resolution. We discuss the effects of image zooming in pulse sequences that have been used for sub-millimeter resolutions and the trade-offs in using partial Fourier and parallel imaging to reduce TE, PSF and ES...
February 14, 2017: NeuroImage
https://www.readbyqxmd.com/read/28207516/economic-evaluation-of-mobile-phone-text-message-interventions-to-improve-adherence-to-hiv-therapy-in-kenya
#4
Anik R Patel, Jason Kessler, R Scott Braithwaite, Kimberly A Nucifora, Harsha Thirumurthy, Qinlian Zhou, Richard T Lester, Carlo A Marra
BACKGROUND: A surge in mobile phone availability has fueled low cost short messaging service (SMS) adherence interventions. Multiple systematic reviews have concluded that some SMS-based interventions are effective at improving antiretroviral therapy (ART) adherence, and they are hypothesized to improve retention in care. The objective of this study was to evaluate the cost-effectiveness of SMS-based adherence interventions and explore the added value of retention benefits. METHODS: We evaluated the cost-effectiveness of weekly SMS interventions compared to standard care among HIV+ individuals initiating ART for the first time in Kenya...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28199041/feasibility-of-accelerated-simultaneous-multislice-diffusion-weighted-mri-of-the-prostate
#5
Jakob Weiss, Petros Martirosian, Jana Taron, Ahmed E Othman, Thomas Kuestner, Michael Erb, Jens Bedke, Fabian Bamberg, Konstantin Nikolaou, Mike Notohamiprodjo
PURPOSE: To assess the feasibility of simultaneous multislice (SMS) single-shot echo-planar-imaging (EPI) for accelerated diffusion-weighted imaging (DWI) of the prostate. MATERIALS AND METHODS: For phantom measurements a dedicated DWI phantom with different sucrose concentrations was used. In addition, 10 volunteers and 16 patients with suspected prostate cancer were examined for in vivo measurements. All examinations were performed with a 3T magnetic resonance imaging (MRI) system...
February 15, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28198576/a-constrained-slice-dependent-background-suppression-scheme-for-simultaneous-multislice-pseudo-continuous-arterial-spin-labeling
#6
Xingfeng Shao, Yi Wang, Steen Moeller, Danny J J Wang
PURPOSE: To present a constrained slice-dependent (CSD) background-suppression (BS) scheme in 2D arterial spin labeling (ASL) using simultaneous multislice acquisition with blipped-CAIPIRINHA (controlled aliasing in parallel imaging results in higher acceleration). METHODS: Background suppression for 2D acquisition is challenging because of the multiple nulling points required for sequential slice readout. Constrained slice-dependent BS exploits the simultaneous multislice technique to reduce the readout duration, and uses slice-dependent premodulation pulses to achieve BS across slice groups...
February 15, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28194483/-placebo-effect-in-clinical-trials-with-allergen-specific-immunotherapy-with-inhalant-allergens
#7
B Wedi, D Wieczorek, A Kapp
Placebo effects play an important role in the treatment of allergic diseases. Therefore, in this study, we analysed the described effects of placebo in all double-blind placebo-controlled clinical trials of allergen-specific immunotherapy (ASIT) with inhalant allergens (birch, grass, house dust mites) listed in the tables (updated July 2016) attached to the German S2k guideline on allergen-specific immunotherapy in IgE-mediated allergic diseases. The most common placebo consisted of verum without allergen, but when the subcutaneous route was used, histamine was sometimes added...
February 13, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28185951/evaluation-of-slice-dithered-enhanced-resolution-simultaneous-multislice-slider-sms-for-human-fmri
#8
An T Vu, Alex Beckett, Kawin Setsompop, David A Feinberg
High isotropic resolution fMRI is challenging primarily due to long repetition times (TR) and insufficient SNR, especially at lower field strengths. Recently, Simultaneous Multi-Slice (SMS) imaging with blipped-CAIPI has substantially reduced scan time and improved SNR efficiency of fMRI. Similarly, super-resolution techniques utilizing sub- voxel spatial shifts in the slice direction have increased both resolution and SNR efficiency. Here we demonstrate the synergistic combination of SLIce Dithered Enhanced Resolution (SLIDER) and SMS for high-resolution, high-SNR whole brain fMRI in comparison to standard resolution fMRI data as well as high-resolution data...
February 6, 2017: NeuroImage
https://www.readbyqxmd.com/read/28163572/knee-problems-and-its-associated-factors-among-active-cyclists-in-eastern-province-saudi-arabia
#9
Abdullatif K Althunyan, Magdy A Darwish, Moataza M Abdel Wahab
INTRODUCTION: Bicycling is one of the most enjoyable aerobic exercises recommended for the promotion of an individual's health. The Eastern Province of Saudi Arabia has seen a huge increase in the number of people who cycle. People have different goals for bicycling, but the injuries they sustain are common. Most of them relate to overuse, particularly of lower body joints. This study was conducted to determine the prevalence of knee problems and factors associated with knee pain in cyclists...
January 2017: Journal of Family & Community Medicine
https://www.readbyqxmd.com/read/28162788/pathways-of-impending-disease-flare-in-african-american-systemic-lupus-erythematosus-patients
#10
Melissa E Munroe, Evan S Vista, Joan T Merrill, Joel M Guthridge, Virginia C Roberts, Judith A James
Immune dysregulation in systemic lupus erythematosus (SLE) contributes to increased disease activity. African-American (AA) SLE patients have an increased prevalence of complications from disease flares and end-organ damage that leads to increased morbidity and early mortality. We previously reported alterations in inflammatory and regulatory immune mediator levels prior to disease flare in European American (EA) SLE patients. In the current study, we assessed baseline and follow-up plasma levels of 52 soluble mediators, including innate, adaptive, chemokine, and TNF superfamily members, in AA SLE patients who developed SELENA-SLEDAI defined flare 6 or 12 weeks after baseline assessment...
February 2, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28154447/future-rehabilitation-professionals-intentions-to-use-self-management-support-helping-students-to-help-patients
#11
Sabrina Figueiredo, Nancy E Mayo, Aliki Thomas
Purpose: We evaluated whether education in self-management support (SMS) increases future clinicians' intentions to use a new way of delivering rehabilitation services. Methods: A convenience sample of 10 students took a 5-week theoretical course, followed by 6 weeks spent assessing patients, establishing treatment plans, and monitoring their performance by telephone. Focus groups were held before and after the educational modules, with deductive mapping of themes to the Theory of Planned Behaviour and inductive analysis of additional themes...
2017: Physiotherapy Canada. Physiothérapie Canada
https://www.readbyqxmd.com/read/28152012/what-is-the-economic-evidence-for-mhealth-a-systematic-review-of-economic-evaluations-of-mhealth-solutions
#12
Sarah J Iribarren, Kenrick Cato, Louise Falzon, Patricia W Stone
BACKGROUND: Mobile health (mHealth) is often reputed to be cost-effective or cost-saving. Despite optimism, the strength of the evidence supporting this assertion has been limited. In this systematic review the body of evidence related to economic evaluations of mHealth interventions is assessed and summarized. METHODS: Seven electronic bibliographic databases, grey literature, and relevant references were searched. Eligibility criteria included original articles, comparison of costs and consequences of interventions (one categorized as a primary mHealth intervention or mHealth intervention as a component of other interventions), health and economic outcomes and published in English...
2017: PloS One
https://www.readbyqxmd.com/read/28148262/demographic-factors-associated-with-dietary-supplement-prescriptions-filled-by-united-states-military-service-members-2005-2013
#13
Joseph J Knapik, Rosenie T Jean, Krista G Austin, Ryan A Steelman, Emily K Farina, Harris R Lieberman
BACKGROUND: Dietary supplements (DSs) can be purchased over-the-counter but may also be prescribed by medical personnel for specific therapeutic reasons. Few studies have examined this latter source of DSs despite the fact that 79% of physicians and 82% of nurses have recommended DSs to their patients. This investigation examined demographic factors associated with temporal trends in oral DS prescriptions filled by all United States (US) service members (SMs) from 2005 to 2013 (n = 1,427,080 ± 22,139, mean ± standard deviation per year)...
January 31, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28143840/educational-intervention-to-improve-effectiveness-in-treatment-and-control-of-patients-with-high-cardiovascular-risk-in-low-resource-settings-in-argentina-study-protocol-of-a-cluster-randomised-controlled-trial
#14
Pablo Gulayin, Vilma Irazola, Alfredo Lozada, Martin Chaparro, Marilina Santero, Laura Gutierrez, Rosana Poggio, Andrea Beratarrechea, Adolfo Rubinstein
INTRODUCTION: Hypercholesterolaemia is estimated to cause 2.6 million deaths annually and one-third of the cases of ischaemic heart disease. In Argentina, the prevalence of hypercholesterolaemia increased between 2005 and 2013 from 27.9% to 29.8%. Only one out of four subjects with a self-reported diagnosis of coronary heart disease is taking statins. Since 2014, statins (simvastatin 20 mg) are part of the package of drugs provided free-of-charge for patients according to cardiovascular disease (CVD) risk stratification...
January 31, 2017: BMJ Open
https://www.readbyqxmd.com/read/28137702/assessing-mobile-phone-access-and-perceptions-for-texting-based-mhealth-interventions-among-expectant-mothers-and-child-caregivers-in-remote-regions-of-northern-kenya-a-survey-based-descriptive-study
#15
Abdul Momin Kazi, Jason-Louis Carmichael, Galgallo Waqo Hapanna, Patrick Gikaria Wangoo, Sarah Karanja, Denis Wanyama, Samuel Opondo Muhula, Lennie Bazira Kyomuhangi, Mores Loolpapit, Gilbert Bwire Wangalwa, Koki Kinagwi, Richard Todd Lester
BACKGROUND: With a dramatic increase in mobile phone use in low- and middle-income countries, mobile health (mHealth) has great potential to connect health care services directly to participants enrolled and improve engagement of care. Rural and remote global settings may pose both significant challenges and opportunities. OBJECTIVE: The objective of our study was to understand the demographics, phone usage and ownership characteristics, and feasibility among patients in rural and remote areas of Kenya of having text messaging (short messaging service, SMS)-based mHealth intervention for improvements in antenatal care attendance and routine immunization among children in Northern Kenya...
January 30, 2017: JMIR Public Health and Surveillance
https://www.readbyqxmd.com/read/28131452/leaching-of-two-fungicides-in-spent-mushroom-substrate-amended-soil-influence-of-amendment-rate-fungicide-ageing-and-flow-condition
#16
Alba Álvarez-Martín, María J Sánchez-Martín, José M Ordax, Jesús M Marín-Benito, M Sonia Rodríguez-Cruz
A study has been conducted on the leaching of two fungicides, tebuconazole and cymoxanil, in a soil amended with spent mushroom substrate (SMS), with an evaluation of how different factors influence this process. The objective was based on the potential use of SMS as a biosorbent for immobilizing pesticides in vulnerable soils, and the need to know how it could affect the subsequent transport of these retained compounds. Breakthrough curves (BTCs) for (14)C-fungicides, non-incubated and incubated over 30days, were obtained in columns packed with an unamended soil (S), and this soil amended with SMS at rates of 5% (S+SMS5) and 50% (S+SMS50) under saturated and saturated-unsaturated flows...
January 25, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28129949/correlational-study-and-randomised-controlled-trial-for-understanding-and-changing-red-meat-consumption-the-role-of-eating-identities
#17
V Carfora, D Caso, M Conner
RATIONALE: The present studies aimed to contribute to the literature on psychological variables involved in reducing red meat consumption (RMC). OBJECTIVE: Study 1 investigated whether the theory of planned behaviour (TPB), plus healthy-eating and meat-eating identities, could explain intentions to reduce RMC. Study 2 evaluated the effectiveness of an SMS text message intervention on self-monitoring to reduce RMC. METHODS: In Study 1, data were collected daily using online food diaries for one week and a TPB questionnaire...
January 10, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28129259/rationale-for-spiritually-oriented-cognitive-processing-therapy-for-moral-injury-in-active-duty-military-and-veterans-with-posttraumatic-stress-disorder
#18
Harold G Koenig, Nathan A Boucher, Rev John P Oliver, Nagy Youssef, Scott R Mooney, Joseph M Currier, Michelle Pearce
Wartime experiences have long been known to cause ethical conflict, guilt, self-condemnation, difficulty forgiving, loss of trust, lack of meaning and purpose, and spiritual struggles. "Moral injury" (MI) (also sometimes called "inner conflict") is the term used to capture this emotional, cognitive, and behavioral state. In this article, we provide rationale for developing and testing Spiritually Oriented Cognitive Processing Therapy, a version of standard cognitive processing therapy for the treatment of MI in active duty and veteran service members (SMs) with posttraumatic stress disorder symptoms who are spiritual or religious (S/R)...
February 2017: Journal of Nervous and Mental Disease
https://www.readbyqxmd.com/read/28128226/low-level-of-swiprosin-1-efhd2-in-vestibular-nuclei-of-spontaneously-hypersensitive-motion-sickness-mice
#19
Zhi-Bin Wang, Ping Han, Ling-Chang Tong, Yi Luo, Wei-Heng Su, Xin Wei, Xu-Hong Yu, Wei-Ye Liu, Xiu-Hua Zhang, Hong Lei, Zhen-Zhen Li, Fang Wang, Jian-Guo Chen, Tong-Hui Ma, Ding-Feng Su, Ling Li
Susceptibility to motion sickness (MS) varies considerably among humans. However, the cause of such variation is unclear. Here, we used a classical genetic approach to obtain mouse strains highly sensitive and resistant to MS (SMS and RMS). Proteomics analysis revealed substantially lower swiprosin-1 expression in SMS mouse brains. Inducing MS via rotary stimulation decreased swiprosin-1 in the mouse brains. Swiprosin-1 knockout mice were much more sensitive to motion disturbance. Immunohistochemistry revealed strong swiprosin-1 expression in the vestibular nuclei (VN)...
January 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28127590/motion-robust-reconstruction-based-on-simultaneous-multi-slice-registration-for-diffusion-weighted-mri-of-moving-subjects
#20
Bahram Marami, Benoit Scherrer, Onur Afacan, Simon K Warfield, Ali Gholipour
Simultaneous multi-slice (SMS) echo-planar imaging has had a huge impact on the acceleration and routine use of diffusion-weighted MRI (DWI) in neuroimaging studies in particular the human connectome project; but also holds the potential to facilitate DWI of moving subjects, as proposed by the new technique developed in this paper. We present a novel registration-based motion tracking technique that takes advantage of the multi-plane coverage of the anatomy by simultaneously acquired slices to enable robust reconstruction of neural microstructure from SMS DWI of moving subjects...
October 2016: Medical Image Computing and Computer-assisted Intervention: MICCAI ..
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