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https://www.readbyqxmd.com/read/28510034/improvement-of-fabry-disease-related-gastrointestinal-symptoms-in-a-significant-proportion-of-female-patients-treated-with-agalsidase-beta-data-from-the-fabry-registry
#1
William R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, Alberto Ortiz, Roberta M Lemay, Ana Jovanovic, Dominique P Germain, Carmen Varas, Katherine Nicholls, Frank Weidemann, Robert J Hopkin
Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted...
May 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28501935/early-gastric-adenocarcinoma-arising-within-foveolar-type-dysplasia-in-a-patient-with-muir-torre-variant-lynch-syndrome
#2
Tristan F P McKnight, Amy E Noffsinger, Kara M Klingman, Ovais Ahmed, Rebecca Wilcox
No abstract text is available yet for this article.
May 13, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28486594/apathy-and-impulsivity-in-frontotemporal-lobar-degeneration-syndromes
#3
Claire J Lansdall, Ian T S Coyle-Gilchrist, P Simon Jones, Patricia Vázquez Rodríguez, Alicia Wilcox, Eileen Wehmann, Katrina M Dick, Trevor W Robbins, James B Rowe
Apathy and impulsivity are common and disabling consequences of frontotemporal lobar degeneration. They cause substantial carer distress, but their aetiology remains elusive. There are critical limitations to previous studies in this area including (i) the assessment of either apathy or impulsivity alone, despite their frequent co-existence; (ii) the assessment of behavioural changes within single diagnostic groups; and (iii) the use of limited sets of tasks or questions that relate to just one aspect of these multifactorial constructs...
May 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28469734/role-of-surface-energy-and-nano-roughness-in-the-removal-efficiency-of-bacterial-contamination-by-nonwoven-wipes-from-frequently-touched-surfaces
#4
Nicholas W M Edwards, Emma L Best, Simon D Connell, Parikshit Goswami, Chris M Carr, Mark H Wilcox, Stephen J Russell
Healthcare associated infections (HCAIs) are responsible for substantial patient morbidity, mortality and economic cost. Infection control strategies for reducing rates of transmission include the use of nonwoven wipes to remove pathogenic bacteria from frequently touched surfaces. Wiping is a dynamic process that involves physicochemical mechanisms to detach and transfer bacteria to fibre surfaces within the wipe. The purpose of this study was to determine the extent to which systematic changes in fibre surface energy and nano-roughness influence removal of bacteria from an abiotic polymer surface in dry wiping conditions, without liquid detergents or disinfectants...
2017: Science and Technology of Advanced Materials
https://www.readbyqxmd.com/read/28468868/diagnosing-childhood-onset-inborn-errors-of-metabolism-by-next-generation-sequencing
#5
Arunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, John K Bassett, Eleanor Cartwright, Sanjeev S Bhaskar, Jill Urquhart, Alexander Broomfield, Andrew Am Morris, Elisabeth Jameson, Bernd C Schwahn, John H Walter, Sofia Douzgou, Helen Murphy, Chris Hendriksz, Reena Sharma, Gisela Wilcox, Ellen Crushell, Ardeshir A Monavari, Richard Martin, Anne Doolan, Senthil Senniappan, Simon C Ramsden, Simon A Jones, Siddharth Banka
BACKGROUND: Inborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging using the traditional approaches. METHODS: We designed and validated a next-generation sequencing (NGS) panel of 226 IEM genes, created six overlapping phenotype-based subpanels and tested 102 individuals, who presented clinically with suspected childhood-onset IEMs. RESULTS: In 51/102 individuals, NGS fully or partially established the molecular cause or identified other actionable diagnoses...
May 3, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28461207/efficacy-and-safety-of-ridinilazole-compared-with-vancomycin-for-the-treatment-of-clostridium-difficile-infection-a-phase-2-randomised-double-blind-active-controlled-non-inferiority-study
#6
Richard J Vickers, Glenn S Tillotson, Richard Nathan, Sabine Hazan, John Pullman, Christopher Lucasti, Kenneth Deck, Bruce Yacyshyn, Benedict Maliakkal, Yves Pesant, Bina Tejura, David Roblin, Dale N Gerding, Mark H Wilcox
BACKGROUND: Clostridium difficile infection is the most common health-care-associated infection in the USA. We assessed the safety and efficacy of ridinilazole versus vancomycin for treatment of C difficile infection. METHODS: We did a phase 2, randomised, double-blind, active-controlled, non-inferiority study. Participants with signs and symptoms of C difficile infection and a positive diagnostic test result were recruited from 33 centres in the USA and Canada and randomly assigned (1:1) to receive oral ridinilazole (200 mg every 12 h) or oral vancomycin (125 mg every 6 h) for 10 days...
April 28, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28453259/direct-in-situ-mass-specific-absorption-spectra-of-biomass-burning-particles-generated-from-smoldering-hard-and-softwoods
#7
James G Radney, Rian You, Michael R Zachariah, Christopher D Zangmeister
Particles from smoldering biomass burning (BB) represent a major source of carbonaceous aerosol in the terrestrial atmosphere. In this study, mass specific absorption spectra of laboratory-generated smoldering wood particles (SWP) from 3 hardwood and 3 softwood species were measured in situ. Absorption data spanning from λ = 500 to 840 nm were collected using a photoacoustic spectrometer coupled to a supercontinuum laser with a tunable wavelength and bandwidth filter. SWP were size- (electrical mobility) and mass-selected prior to optical characterization allowing data to be reported as mass-specific absorption cross sections (MAC)...
May 4, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28408806/patient-knowledge-and-pulmonary-medication-adherence-in-adult-patients-with-cystic-fibrosis
#8
Ann Hsu-An Lin, Jennifer G Kendrick, Pearce G Wilcox, Bradley S Quon
BACKGROUND AND OBJECTIVES: Patient knowledge of lung function (ie, forced expiratory volume in 1 s [FEV1]% predicted) and the intended benefits of their prescribed pulmonary medications might play an important role in medication adherence, but this relationship has not been examined previously in patients with cystic fibrosis (CF). METHODS: All patients diagnosed with CF and without prior lung transplantation were invited to complete knowledge and self-reported medication adherence questionnaires during routine outpatient visits to the Adult CF Clinic, St Paul's Hospital, Vancouver, Canada from June 2013 to August 2014...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28392009/genitourinary-and-gastrointestinal-co-morbidities-in-children-the-role-of-neural-circuits-in-regulation-of-visceral-function
#9
REVIEW
A P Malykhina, K E Brodie, D T Wilcox
OBJECTIVE: Pediatric lower urinary tract dysfunction (LUTD) is a common problem in childhood. Lower urinary tract symptoms in children include overactive bladder, voiding postponement, stress incontinence, giggle incontinence, and dysfunctional voiding. Gastrointestinal co-morbidities, including constipation or fecal incontinence, are commonly associated with lower urinary tract (LUT) symptoms in children, often reaching 22-34%. This review summarized the potential mechanisms underlying functional lower urinary and gastrointestinal co-morbidities in children...
June 15, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28373692/a-missense-mutation-in-katnal1-underlies-behavioural-neurological-and-ciliary-anomalies
#10
G Banks, G Lassi, A Hoerder-Suabedissen, F Tinarelli, M M Simon, A Wilcox, P Lau, T N Lawson, S Johnson, A Rutman, M Sweeting, J E Chesham, A R Barnard, N Horner, H Westerberg, L B Smith, Z Molnár, M H Hastings, R A Hirst, V Tucci, P M Nolan
Microtubule severing enzymes implement a diverse range of tissue-specific molecular functions throughout development and into adulthood. Although microtubule severing is fundamental to many dynamic neural processes, little is known regarding the role of the family member Katanin p60 subunit A-like 1, KATNAL1, in central nervous system (CNS) function. Recent studies reporting that microdeletions incorporating the KATNAL1 locus in humans result in intellectual disability and microcephaly suggest that KATNAL1 may play a prominent role in the CNS; however, such associations lack the functional data required to highlight potential mechanisms which link the gene to disease symptoms...
April 4, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28372560/fish-sharing-as-a-risk-factor-for-opisthorchis-viverrini-infection-evidence-from-two-villages-in-north-eastern-thailand
#11
Parichat Saenna, Cameron Hurst, Pierre Echaubard, Bruce A Wilcox, Banchob Sripa
BACKGROUND: Foodborne trematodiasis (FBT) is a significant global health problem, with the liver flukes Opisthorchis viverrini, O. felineus, and Clonorchis sinensis contributing to half of the global burden of FBT. North-eastern Thailand where O. viverrini is endemic and un-cooked fish dishes remain an integral part of the food culture has the highest reported incidence of opisthorchiasis, including associated cholangiocarcinoma. Both food sharing and eating practices are potentially important factors in FTB, suggesting an important role for the social ecology of disease transmission in these rural communities...
April 4, 2017: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/28370946/asymmetric-responses-of-primary-productivity-to-precipitation-extremes-a-synthesis-of-grassland-precipitation-manipulation-experiments
#12
Kevin R Wilcox, Zheng Shi, Laureano A Gherardi, Nathan P Lemoine, Sally E Koerner, David L Hoover, Edward Bork, Kerry M Byrne, James Cahill, Scott L Collins, Sarah Evans, Anna K Gilgen, Petr Holub, Lifen Jiang, Alan K Knapp, Daniel LeCain, Junyi Liang, Pablo Garcia-Palacios, Josep Peñuelas, William T Pockman, Melinda D Smith, Shanghua Sun, Shannon R White, Laura Yahdjian, Kai Zhu, Yiqi Luo
Climatic changes are altering Earth's hydrological cycle, resulting in altered precipitation amounts, increased interannual variability of precipitation, and more frequent extreme precipitation events. These trends will likely continue into the future, having substantial impacts on net primary productivity (NPP) and associated ecosystem services such as food production and carbon sequestration. Frequently, experimental manipulations of precipitation have linked altered precipitation regimes to changes in NPP...
April 2, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28367786/is-agree-ii-a-counsel-of-perfection-a-letter-commenting-on-lytvyn-et-al
#13
Sheldon P Stone, Mark Wilcox, Peter Hawkey
No abstract text is available yet for this article.
April 3, 2017: Infection Control and Hospital Epidemiology
https://www.readbyqxmd.com/read/28366811/the-association-between-food-security-and-store-specific-and-overall-food-shopping-behaviors
#14
Xiaonan Ma, Angela D Liese, James Hibbert, Bethany A Bell, Sara Wilcox, Patricia A Sharpe
BACKGROUND: Food security is a severe problem in the United States. Few studies have examined its relationship with food shopping behaviors. OBJECTIVE: This study aimed to examine the association between food security and store-specific and overall food shopping among residents of low-income neighborhoods. DESIGN: We conducted a cross-sectional study. PARTICIPANTS/SETTING: Five hundred twenty-seven households were recruited from two counties in South Carolina from November 2013 to May 2014, and 474 households were included in the final analysis...
March 30, 2017: Journal of the Academy of Nutrition and Dietetics
https://www.readbyqxmd.com/read/28351774/rifm-fragrance-ingredient-safety-assessment-methyl-jasmonate-cas-registry-number-1211-29-6
#15
A M Api, D Belsito, S Bhatia, D Botelho, D Browne, M Bruze, G A Burton, J Buschmann, P Calow, M L Dagli, M Date, W Dekant, C Deodhar, A D Fryer, K Joshi, L Kromidas, S La Cava, J F Lalko, A Lapczynski, D C Liebler, D O'Brien, R Parakhia, A Patel, T M Penning, V T Politano, G Ritacco, J Romine, D Salvito, T W Schultz, J Shen, I G Sipes, Y Thakkar, S Tsang, J Wahler, B Wall, D K Wilcox
No abstract text is available yet for this article.
March 25, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28344829/systemic-angiopoietin-1-2-dysregulation-following-cardiopulmonary-bypass-in-adults
#16
Emmanuel Charbonney, Elizabeth Wilcox, Yuexin Shan, Pablo Perez d'Empaire, Abhijit Duggal, Gordon D Rubenfeld, Conrad Liles, Claudia Dos Santos
AIM: Vascular leakage following cardiopulmonary bypass contributes to morbidity. Angiopoietin-1 and -2 are biomarkers of endothelial dysfunction. Our aim was to characterize Ang-1 and -2 association with clinical characteristics and outcomes. METHODS: Observational cohort study measuring Ang-1/-2 with a panel of cytokines in adults undergoing cardiopulmonary bypass. RESULTS: Ang-2 levels increased immediately postop whereas Ang-1 levels decreased over time...
March 2017: Future Science OA
https://www.readbyqxmd.com/read/28323905/elevated-plasma-levels-of-cardiac-troponin-i-predict-left-ventricular-systolic-dysfunction-in-patients-with-myotonic-dystrophy-type-1-a-multicentre-cohort-follow-up-study
#17
Mark J Hamilton, Yvonne Robb, Sarah Cumming, Helen Gregory, Alexis Duncan, Monika Rahman, Anne McKeown, Catherine McWilliam, John Dean, Alison Wilcox, Maria E Farrugia, Anneli Cooper, Josephine McGhie, Berit Adam, Richard Petty, Cheryl Longman, Iain Findlay, Alan Japp, Darren G Monckton, Martin A Denvir
OBJECTIVE: High sensitivity plasma cardiac troponin-I (cTnI) is emerging as a strong predictor of cardiac events in a variety of settings. We have explored its utility in patients with myotonic dystrophy type 1 (DM1). METHODS: 117 patients with DM1 were recruited from routine outpatient clinics across three health boards. A single measurement of cTnI was made using the ARCHITECT STAT Troponin I assay. Demographic, ECG, echocardiographic and other clinical data were obtained from electronic medical records...
2017: PloS One
https://www.readbyqxmd.com/read/28287095/aboriginal-australian-mitochondrial-genome-variation-an-increased-understanding-of-population-antiquity-and-diversity
#18
Nano Nagle, Mannis van Oven, Stephen Wilcox, Sheila van Holst Pellekaan, Chris Tyler-Smith, Yali Xue, Kaye N Ballantyne, Leah Wilcox, Luka Papac, Karen Cooke, Roland A H van Oorschot, Peter McAllister, Lesley Williams, Manfred Kayser, R John Mitchell
Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 thousand years ago. Genetic studies, though limited, have demonstrated both the uniqueness and antiquity of Aboriginal Australian genomes. We have further resolved known Aboriginal Australian mitochondrial haplogroups and discovered novel indigenous lineages by sequencing the mitogenomes of 127 contemporary Aboriginal Australians...
March 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28279898/concern-about-developing-alzheimer-s-disease-or-dementia-and-intention-to-be-screened-an-analysis-of-national-survey-data
#19
Weizhou Tang, Kristie Kannaley, Daniela B Friedman, Valerie J Edwards, Sara Wilcox, Sue E Levkoff, Rebecca H Hunter, Cheryl Irmiter, Basia Belza
OBJECTIVE: Early diagnosis of Alzheimer's disease (AD) or dementia is important so that patients can express treatment preferences, subsequently allowing caregivers to make decisions consistent with their wishes. This study explored the relationship between people's concern about developing AD/dementia, likelihood to be screened/tested, if experiencing changes in cognitive status or functioning, and concerns about sharing the diagnostic information with others. METHOD: A descriptive study was conducted using Porter Novelli's SummerStyles 2013 online survey data...
March 1, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28269681/a-three-element-1h-31p-dual-tuned-array-for-magnetic-resonance-spectroscopy-at-4-7-t
#20
Matthew D Wilcox, Romina Del Bosque, Kurt Parizek, Jeremy Sia, Edwin D Eigenbrodt, Mary P McDougall
This work describes the construction and testing of a three-element, double-tuned receive array and transmit coils for 31P-1H spectroscopy and imaging. The receive coils were geometrically-decoupled, single-loop surface coils and the transmit coils were concentric saddle coils. The coils were used to examine a physiologically-modeled CNC-milled phantom. The receive coil array was able to improve SNR while also providing gross localization of the 1H and 31P signals.
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
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