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https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#1
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27894065/evaluation-of-csf-and-plasma-biomarkers-of-brain-melanocortin-activity-in-response-to-caloric-restriction-in-humans
#2
Gabrielle Page-Wilson, Kim T Nguyen, Deniz Atalayer, Kana Meece, Heather A Bainbridge, Judith Korner, Rebecca J Gordon, Sunil K Panigrahi, Anne White, Richard Smiley, Sharon L Wardlaw
The melanocortin neuronal system, comprised of hypothalamic proopiomelanocortin (POMC) and agouti-related protein (AgRP) neurons, is a leptin target that regulates energy balance and metabolism, but studies in humans are limited by lack of reliable biomarkers for brain melanocortin activity. The objective of this study was to measure the POMC prohormone and its processed peptide, ß-endorphin (ß-EP), in cerebrospinal fluid (CSF) and AgRP in CSF and plasma after calorie restriction to validate their utility as biomarkers of brain melanocortin activity...
November 15, 2016: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27889063/andr%C3%A3-e-gruslin-award-lecture-metabolomics-as-an-important-modality-to-better-understand-preeclampsia
#3
S J Benton, C Ly, S Vukovic, S A Bainbridge
Preeclampsia (PE) is a complex disorder that affects 3-5% of all pregnancies and is a leading cause of maternal and fetal morbidity and mortality. To date, the heterogeneity of clinical presentation, disease severity and outcomes have limited significant advances in early prediction, diagnosis, and therapeutic intervention of PE. The rapidly expanding field of metabolomics, which has the capacity to quantitatively detect low molecular weight compounds (metabolites) in tissue and biological fluids, shows tremendous promise in gaining a better understanding of PE...
November 16, 2016: Placenta
https://www.readbyqxmd.com/read/27867427/practicalities-of-mapping-pm10-and-pm2-5-concentrations-on-city-wide-scales-using-a-portable-particulate-monitor
#4
Michael E Deary, Samantha J Bainbridge, Amy Kerr, Adam McAllister, Thomas Shrimpton
Fine particulate matter is considered to be the most significant ambient air pollutant in terms of potential health impacts. Therefore, it is important that regulators are able to accurately assess the exposure of populations to PM10 and PM2.5 across municipal areas. We report on the practicalities of using a laser light scattering portable particulate monitor (Turnkey Instruments DustMate), in combination with a GPS, to map PM10 and PM2.5 concentrations on city-wide scales in Newcastle upon Tyne/Gateshead (UK), during a series of walking surveys...
2016: Air Quality, Atmosphere, & Health
https://www.readbyqxmd.com/read/27805917/caval-subtraction-2d-phase-contrast-mri-to-measure-total-liver-and-hepatic-arterial-blood-flow-proof-of-principle-correlation-with-portal-hypertension-severity-and-validation-in-patients-with-chronic-liver-disease
#5
Manil D Chouhan, Rajeshwar P Mookerjee, Alan Bainbridge, Shonit Punwani, Helen Jones, Nathan Davies, Simon Walker-Samuel, David Patch, Rajiv Jalan, Steve Halligan, Mark F Lythgoe, Stuart A Taylor
OBJECTIVES: Caval subtraction phase-contrast magnetic resonance imaging (PCMRI) noninvasive measurements of total liver blood flow (TLBF) and hepatic arterial (HA) flow have been validated in animal models and translated into normal volunteers, but not patients. This study aims to demonstrate its use in patients with liver cirrhosis, evaluate measurement consistency, correlate measurements with portal hypertension severity, and invasively validate TLBF measurements. MATERIALS AND METHODS: Local research ethics committee approval was obtained...
October 31, 2016: Investigative Radiology
https://www.readbyqxmd.com/read/27785894/qualitative-exploration-of-stakeholders-perspectives-of-involuntary-admission-under-the-mental-health-act-2001-in-ireland
#6
Siobhán Smyth, Dympna Casey, Adeline Cooney, Agnes Higgins, David McGuinness, Emma Bainbridge, Mary Keys, Irina Georgieva, Liz Brosnan, Claire Beecher, Brian Hallahan, Colm McDonald, Kathy Murphy
There is international interest in, and continued concern about, the potential long-term impact of involuntary admission to psychiatric institutions, and the effect this coercive action has on a person's well-being and human rights. Involuntary detention in hospital remains a controversial process that involves stakeholders with competing concerns and who often describe negative experiences of the process, which can have long-lasting effects on the therapeutic relationship with service users. The aim of the present study was to explore the perspectives of key stakeholders involved in the involuntary admission and detention of people under the Mental Health Act 2001 in Ireland...
October 27, 2016: International Journal of Mental Health Nursing
https://www.readbyqxmd.com/read/27783367/national-differences-in-remission-of-type-2-diabetes-mellitus-after-roux-en-y-gastric-bypass-surgery-subgroup-analysis-of-2-year-results-of-the-diabetes-surgery-study-comparing-taiwanese-with-americans-with-mild-obesity-bmi-30-35%C3%A2-kg-m-2
#7
Keong Chong, Sayeed Ikramuddin, Wei-Jei Lee, Charles J Billington, John P Bantle, Qi Wang, Avis J Thomas, John E Connett, Daniel B Leslie, William B Inabnet, Robert W Jeffery, Michael G Sarr, Michael D Jensen, Adrian Vella, Leaque Ahmed, Kumar Belani, Joyce L Schone, Amy E Olofson, Heather A Bainbridge, Patricia S Laqua, Judith Korner, Lee-Ming Chuang
BACKGROUND: The purpose of this study is to compare effects of different nations on Roux-en-Y gastric bypass (RYGB) vs. intensive medical management (IMM) in achieving remission of type 2 diabetes mellitus (T2DM). MATERIALS AND METHODS: Between April 2008 and December 2011, this randomized, controlled clinical trial was conducted at four teaching hospitals in the United States and Taiwan involving 71 participants with mild obesity (BMI 30-35 kg/m(2)). Thirty-six of 71 participants were randomly assigned to the RYGB group, and the others were in IMM group...
October 25, 2016: Obesity Surgery
https://www.readbyqxmd.com/read/27766627/whole-body-magnetic-resonance-imaging-in-newly-diagnosed-multiple-myeloma-early-changes-in-lesional-signal-fat-fraction-predict-disease-response
#8
Arash Latifoltojar, Margaret Hall-Craggs, Neil Rabin, Rakesh Popat, Alan Bainbridge, Nikolaos Dikaios, Magdalena Sokolska, Ali Rismani, Shirley D'Sa, Shonit Punwani, Kwee Yong
Cross-sectional imaging techniques are being increasingly used for disease evaluation in patients with multiple myeloma. Whole body magnetic resonance imaging (WB-MRI) scanning is superior to plain radiography in baseline assessment of patients but changes following treatment have not been systematically explored. We carried out paired WB-MRI scans in 21 newly diagnosed patients prior to, and 8-weeks after, starting chemotherapy, and analysed stringently selected focal lesions (FLs) for parametric changes. A total of 323 FLs were evaluated, median 20 per patient...
October 21, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27741299/lipid-encapsulation-provides-insufficient-total-tract-digestibility-to-achieve-an-optimal-transfer-efficiency-of-fatty-acids-to-milk-fat
#9
Melissa Bainbridge, Jana Kraft
Transfer efficiencies of rumen-protected n-3 fatty acids (FA) to milk are low, thus we hypothesized that rumen-protection technologies allow for biohydrogenation and excretion of n-3 FA. The objectives of this study were to i) investigate the ruminal protection and post-ruminal release of the FA derived from the lipid-encapsulated echium oil (EEO), and ii) assess the bioavailability and metabolism of the EEO-derived FA through measuring the FA content in plasma lipid fractions, feces, and milk. The EEO was tested for rumen stability using the in situ nylon bag technique, then the apparent total-tract digestibility was assessed in vivo using six Holstein dairy cattle...
2016: PloS One
https://www.readbyqxmd.com/read/27720792/capturing-the-palliative-home-care-experience-from-bereaved-caregivers-through-qualitative-survey-data-toward-informing-quality-improvement
#10
Daryl Bainbridge, Deanna Bryant, Hsien Seow
CONTEXT: Measuring palliative care experience using patient-reported outcomes is becoming important for assessing and improving quality, although most validated outcome tools solely use scaled questions. OBJECTIVES: We analyzed open-text survey responses from bereaved caregivers to identify strengths and weaknesses in the quality of end-of-life care services and to assess the usefulness of qualitative survey data for quality improvement. METHODS: This was a retrospective observational study involving bereaved caregivers of decedents who had received palliative home care services in one of six health care regions in Ontario, Canada...
October 5, 2016: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/27703396/epilepsy-during-pregnancy-focus-on-management-strategies
#11
Laura M Borgelt, Felecia M Hart, Jacquelyn L Bainbridge
In the US, more than one million women with epilepsy are of childbearing age and have over 20,000 babies each year. Patients with epilepsy who become pregnant are at risk of complications, including changes in seizure frequency, maternal morbidity and mortality, and congenital anomalies due to antiepileptic drug exposure. Appropriate management of epilepsy during pregnancy may involve frequent monitoring of antiepileptic drug serum concentrations, potential preconception switching of antiepileptic medications, making dose adjustments, minimizing peak drug concentration with more frequent dosing, and avoiding potentially teratogenic medications...
2016: International Journal of Women's Health
https://www.readbyqxmd.com/read/27693232/de-novo-truncating-variants-in-asxl2-are-associated-with-a-unique-and-recognizable-clinical-phenotype
#12
Vandana Shashi, Loren D M Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M McLaughlin, Megan Cho, Nicholas Stong, Scott E Hickey, Christine M Shuss, Michael S Freemark, Jane S Bellet, Martha Ann Keels, Melanie J Bonner, Maysantoine El-Dairi, Megan Butler, Peter G Kranz, Constance T R M Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I Kurki, Alexander Hoischen, Anna C Need, David B Goldstein, Fanny Kortüm
The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27677841/campylobacter-concisus-pathotypes-induce-distinct-global-responses-in-intestinal-epithelial-cells
#13
Nandan P Deshpande, Marc R Wilkins, Natalia Castaño-Rodríguez, Emily Bainbridge, Nidhi Sodhi, Stephen M Riordan, Hazel M Mitchell, Nadeem O Kaakoush
The epithelial response to the opportunistic pathogen Campylobacter concisus is poorly characterised. Here, we assessed the intestinal epithelial responses to two C. concisus strains with different virulence characteristics in Caco-2 cells using RNAseq, and validated a subset of the response using qPCR arrays. C. concisus strains induced distinct response patterns from intestinal epithelial cells, with the toxigenic strain inducing a significantly more amplified response. A range of cellular functions were significantly regulated in a strain-specific manner, including epithelial-to-mesenchymal transition (NOTCH and Hedgehog), cytoskeletal remodeling, tight junctions, inflammatory responses and autophagy...
September 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27674768/dosimetric-implications-for-radical-radiation-therapy-on-the-magnetic-resonance-linear-accelerator-mrl-in-locally-advanced-non-small-cell-lung-cancer-la-nsclc
#14
H E Bainbridge, M J Menten, M F Fast, S Nill, C M Nutting, K Harrington, U Oelfke, F McDonald
No abstract text is available yet for this article.
October 1, 2016: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/27664694/milk-from-cows-grazing-on-cool-season-pastures-provides-an-enhanced-profile-of-bioactive-fatty-acids-compared-to-those-grazed-on-a-monoculture-of-pearl-millet
#15
Melissa L Bainbridge, Emily Egolf, John W Barlow, Juan P Alvez, Joe Roman, Jana Kraft
The demand for dairy products from grass-fed cows is driven, in part, by their more desirable fatty acid (FA) profile, containing more n-3 FA and conjugated linoleic acids (CLA) than conventionally produced dairy products. This study investigated the effects of pearl millet (PM) vs. cool-season pasture (CSP) on animal performance and milk FA in a grazing system. Eight Holstein dairy cows were used in a repeated measures design with four-week periods. Forage type had no effect on animal performance (estimated dry matter intake, milk production, fat, or protein)...
February 15, 2017: Food Chemistry
https://www.readbyqxmd.com/read/27620535/motivators-and-barriers-for-older-people-participating-in-resistance-training-a-systematic-review
#16
Elissa Burton, Kaela Farrier, Gill Lewin, Simone Pettigrew, Anne-Marie Hill, Phil Airey, Liz Bainbridge, Keith D Hill
Regular participation in resistance training is important for older people to maintain their health and independence, yet participation rates are low. The study aimed to identify motivators and barriers to older people participating in resistance training. A systematic review was conducted including quantitative, qualitative and mixed-method studies. Searches generated 15,920 citations from six databases, with 14 studies (n=1,937 participants) included. In total, 92 motivators and 24 barriers were identified...
September 6, 2016: Journal of Aging and Physical Activity
https://www.readbyqxmd.com/read/27618594/estimation-of-contrast-agent-bolus-arrival-delays-for-improved-reproducibility-of-liver-dce-mri
#17
Manil D Chouhan, Alan Bainbridge, David Atkinson, Shonit Punwani, Rajeshwar P Mookerjee, Mark F Lythgoe, Stuart A Taylor
Delays between contrast agent (CA) arrival at the site of vascular input function (VIF) sampling and the tissue of interest affect dynamic contrast enhanced (DCE) MRI pharmacokinetic modelling. We investigate effects of altering VIF CA bolus arrival delays on liver DCE MRI perfusion parameters, propose an alternative approach to estimating delays and evaluate reproducibility. Thirteen healthy volunteers (28.7  ±  1.9 years, seven males) underwent liver DCE MRI using dual-input single compartment modelling, with reproducibility (n  =  9) measured at 7 days...
October 7, 2016: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/27610359/evaluating-research-impact-the-development-of-a-research-for-impact-tool
#18
Komla Tsey, Kenny Lawson, Irina Kinchin, Roxanne Bainbridge, Janya McCalman, Felecia Watkin, Yvonne Cadet-James, Allison Rossetto
INTRODUCTION: This paper examines the process of developing a Research for Impact Tool in the contexts of general fiscal constraint, increased competition for funding, perennial concerns about the over-researching of Aboriginal and Torres Strait Islander issues without demonstrable benefits as well as conceptual and methodological difficulties of evaluating research impact. The aim is to highlight the challenges and opportunities involved in evaluating research impact to serve as resource for potential users of the research for impact tool and others interested in assessing the impact of research...
2016: Frontiers in Public Health
https://www.readbyqxmd.com/read/27559917/identifying-motivators-and-barriers-to-older-community-dwelling-people-participating-in-resistance-training-a-cross-sectional-study
#19
Elissa Burton, Gill Lewin, Simone Pettigrew, Anne-Marie Hill, Liz Bainbridge, Kaela Farrier, Trish Langdon, Phil Airey, Keith D Hill
Participation rates of older people in resistance training (RT) are low despite increasing research showing many health benefits. To increase the number of older people participating in RT it is important to know what would motivate people to become involved, what motivates those who participate to continue, and the factors preventing many older people from commencing participation. To investigate these issues, a questionnaire was mailed to three groups of older people: (1) those receiving home care services, (2) members of a peak non-government seniors' organisation and (3) those participating in a specific gym-based RT programme...
August 25, 2016: Journal of Sports Sciences
https://www.readbyqxmd.com/read/27544307/flow-cytometric-analysis-of-inflammatory-and-resident-myeloid-populations-in-mouse-ocular-inflammatory-models
#20
Sidath E Liyanage, Peter J Gardner, Joana Ribeiro, Enrico Cristante, Robert D Sampson, Ulrich F O Luhmann, Robin R Ali, James W Bainbridge
Myeloid cells make a pivotal contribution to tissue homeostasis during inflammation. Both tissue-specific resident populations and infiltrating myeloid cells can cause tissue injury through aberrant activation and/or dysregulated activity. Reliable identification and quantification of myeloid cells within diseased tissues is important to understand pathological inflammatory processes. Flow cytometry is a valuable technique for leukocyte analysis, but a standardized flow cytometric method for myeloid cell populations in the eye is lacking...
October 2016: Experimental Eye Research
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