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Alberto Ortiz, Dominique P Germain, Robert J Desnick, Juan Politei, Michael Mauer, Alessandro Burlina, Christine Eng, Robert J Hopkin, Dawn Laney, Aleš Linhart, Stephen Waldek, Eric Wallace, Frank Weidemann, William R Wilcox
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the "classic" phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Enzyme replacement therapy (ERT) and adjunctive treatments can provide significant clinical benefit...
February 28, 2018: Molecular Genetics and Metabolism
Karl Krupp, Caitlyn D Placek, Meredith Wilcox, Kavitha Ravi, Vijaya Srinivas, Anjali Arun, Purnima Madhivanan
OBJECTIVE: According to the World Health Organization, about half of all pregnant women in India suffer from some form of anemia. While poor nutrition is the most common cause, social factors, such as gender and religion, also impact anemia status. This study investigates the relationship between anemia and socioeconomic and health-related factors among pregnant women in Mysore, India. DESIGN: Prospective cohort study conducted between January 2009 and 2012 SETTING: 144 rural villages ten or more kilometers outside of Mysore City received integrated antenatal care and HIV testing services provided by mobile medical clinic in their communities...
February 20, 2018: Midwifery
M Elizabeth Wilcox, Andrew S Lim, Ruxandra Pinto, Sandra E Black, Mary Pat McAndrews, Gordon D Rubenfeld
BACKGROUND: Few studies have investigated sleep in patients after intensive care despite the possibility that inadequate sleep might further complicate an acute illness impeding recovery. AIMS: Our objectives were to assess the quality and quantity of a patients' sleep on the ward by polysomnography (PSG) within a week of intensive care unit (ICU) discharge and to explore the prevalence of key in-ICU risk factors for persistent sleep fragmentation. METHODS: We enrolled twenty patients after they have been mechanically ventilated for at least 3 days and survived to ICU discharge...
March 9, 2018: Internal Medicine Journal
Tracy Bell, Magali Araujo, Zaiming Luo, James Tomlinson, James Leiper, William J Welch, Christopher S Wilcox
BACKGROUND: Nitric oxide prevents hypertension yet paradoxically reduces proximal tubule Na+ reabsorption. Nitric oxide synthase is inhibited by asymmetric dimethylarginine (ADMA) that is metabolized by dimethylarginine dimethylaminohydrolase (DDAH) whose type 1 isoform is expressed abundantly in the PT. HYPOTHESIS: That ADMA generated by DDAH-1 fluid reabsorbtion (Jv) by the proximal tubule. METHODS: S2 segments of the PT were perfused in vivo to assess Jv...
March 7, 2018: American Journal of Physiology. Renal Physiology
Brian S Roberts, Andrew A Hardigan, Dianna E Moore, Ryne C Ramaker, Angela L Jones, Meredith B Fitz-Gerald, Gregory M Cooper, C Mel Wilcox, Robert P Kimberly, Richard M Myers
PURPOSE: Colorectal cancer (CRC) is the third most common cancer worldwide, causing ~700,000 deaths each year. The majority of CRCs begin as adenomas. Definitive screening for colorectal adenomas is currently accomplished through colonoscopy but, owing largely to costs and invasiveness, is typically limited to patient groups at higher risk by virtue of age or family history. We sought to determine if blood-based small RNA markers could detect colorectal adenoma. EXPERIMENTAL DESIGN: We applied high-depth small RNA sequencing to plasma from a large (n=189) cohort of patients, balanced for age, sex, and ancestry...
February 28, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Timothy P Bilton, Matthew R Schofield, Michael A Black, David Chagné, Phillip L Wilcox, Ken G Dodds
Next generation sequencing is an efficient method that allows for substantially more markers than previous technologies, providing opportunities for building high density genetic linkage maps, which facilitate the development of non-model species' genomic assemblies and the investigation of their genes. However, constructing genetic maps using data generated via high-throughput sequencing technology (e.g., genotyping-by-sequencing) is complicated by the presence of sequencing errors and genotyping errors resulting from missing parental alleles due to low sequencing depth...
February 27, 2018: Genetics
Amanda E Paluch, Robin P Shook, Gregory A Hand, Daniel P O'Connor, Sara Wilcox, Clemens Drenowatz, Meghan Baruth, Stephanie Burgess, Steven N Blair
BACKGROUND: This study examined how life event occurrences and stressfulness influence objectively measured light through vigorous physical activity (PA) among young adults. METHODS: Every 3 months over a 12-month period, 404 healthy young adults completed questionnaires on the occurrence and stress of 16 life events and wore an accelerometer for 10 days. RESULTS: A modest positive relationship was seen between cumulative life event occurrences [between effect: β = 22...
February 27, 2018: Journal of Physical Activity & Health
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
OBJECTIVE: To identify the white matter correlates of apathy and impulsivity in the major syndromes associated with frontotemporal lobar degeneration, using diffusion-weighted imaging and data from the PiPPIN (Pick's Disease and Progressive Supranuclear Palsy: Prevalence and Incidence) study. We included behavioral and language variants of frontotemporal dementia, corticobasal syndrome, and progressive supranuclear palsy. METHODS: Seventy patients and 30 controls underwent diffusion tensor imaging at 3-tesla after detailed assessment of apathy and impulsivity...
February 16, 2018: Neurology
Steven M Horwitz, Stephen M Ansell, Weiyun Z Ai, Jeffrey Barnes, Stefan K Barta, Michael Choi, Mark W Clemens, Ahmet Dogan, John P Greer, Ahmad Halwani, Bradley M Haverkos, Richard T Hoppe, Eric Jacobsen, Deepa Jagadeesh, Youn H Kim, Matthew A Lunning, Amitkumar Mehta, Neha Mehta-Shah, Yahurio Oki, Elise A Olsen, Barbara Pro, Saurabh A Rajguru, Satish Shanbhag, Andrei Shustov, Lubomir Sokol, Pallawi Torka, Ryan Wilcox, Basem William, Jasmine Zain, Mary A Dwyer, Hema Sundar
Natural killer (NK)/T-cell lymphomas are a rare and distinct subtype of non-Hodgkin's lymphomas. NK/T-cell lymphomas are predominantly extranodal and most of these are nasal type, often localized to the upper aerodigestive tract. Because extranodal NK/T-cell lymphomas (ENKL) are rare malignancies, randomized trials comparing different regimens have not been conducted to date and standard therapy has not yet been established for these patients. These NCCN Guidelines Insights discuss the recommendations for the diagnosis and management of patients with ENKL as outlined in the NCCN Guidelines for T-Cell Lymphomas...
February 2018: Journal of the National Comprehensive Cancer Network: JNCCN
Orsolya M Palacios, Indika Edirisinghe, Meredith L Wilcox, Britt Burton-Freeman, Di Xiao, Kevin C Maki
OBJECTIVE: Replacing dietary refined carbohydrates (CHO) with protein may impact appetite and glucose and lipid metabolism in metabolically at-risk individuals. The objectives of this study were to assess the effects of consumption of a lean pork-containing, high-protein (pPro) breakfast versus a refined-CHO-rich breakfast for 2 weeks on appetite and cardiometabolic parameters in overweight or obese adults with prediabetes. METHODS: In this crossover study, overweight or obese men and women with prediabetes were provided with either a pPro breakfast meal or a refined-CHO breakfast meal to consume each day (2-week intervention, ≥ 2-week washout)...
February 9, 2018: Journal of the American College of Nutrition
Rizwan Yousaf, Zubair M Ahmed, Arnaud Pj Giese, Robert J Morell, Ayala Lagziel, Alain Dabdoub, Edward R Wilcox, Sheikh Riazuddin, Thomas B Friedman, Saima Riazuddin
A modifier variant can abrogate risk of a monogenic disorder. DFNM1 is a locus on chromosome 1 encoding a dominant suppressor of human DFNB26 recessive, profound deafness. Here, we report that DFNB26 is associated with a substitution (p.Gly116Glu) in the pleckstrin-homology-domain of GAB1, an essential scaffold in the MET/HGF pathway. A dominant substitution (p.Arg544Gln) of METTL13, encoding a predicted methyltransferase, is the DFNM1 suppressor of GAB1-associated deafness. In zebrafish, human METTL13 mRNA harboring the modifier allele rescues the GAB1 associated morphant phenotype...
February 6, 2018: Journal of Clinical Investigation
D S Pickering, J J Vernon, J Freeman, M H Wilcox, C H Chilton
BACKGROUND: A variety of supplemented solid media are used within Clostridium difficile research to optimally recover spores. Our study sought to investigate different media and additives, providing a method of optimised C. difficile spore recovery. Additionally, due to the results observed in the initial experiments, the inhibitory effects of three amino acids (glycine, L-histidine & L-phenylalanine) on C. difficile spore outgrowth were investigated. METHODS: Spores of five C...
January 31, 2018: Anaerobe
C V Bishop, R L Stouffer, D L Takahashi, E C Mishler, M C Wilcox, O D Slayden, C A True
STUDY QUESTION: What are the impacts of elevated testosterone (T) and an obesogenic western-style diet (WSD), either independently or together, on fertility and metabolic adaptations of pregnancy in primates? SUMMARY ANSWER: Testosterone increases the time to achieve pregnancy, while a WSD reduces overall fertility, and the combination of testosterone and WSD additionally impairs glucose tolerance and causes pregnancy loss. WHAT IS KNOWN ALREADY: Both hyperandrogenemia and obesity are hallmarks of polycystic ovary syndrome, which is a leading cause of infertility among women worldwide...
February 1, 2018: Human Reproduction
K O Rove, M A Brockel, A F Saltzman, M I Dönmez, K E Brodie, D J Chalmers, B T Caldwell, V M Vemulakonda, D T Wilcox
BACKGROUND: Enhanced recovery after surgery (ERAS) protocol is a set of peri-operative strategies to increase speed of recovery. ERAS is well established in adults but has not been well studied in children. OBJECTIVE: The purpose of the current study was to establish the safety and efficacy of an ERAS protocol in pediatric urology patients undergoing reconstructive operations. It was hypothesized that ERAS would reduce length of stay and decrease complications when compared with historical controls...
February 1, 2018: Journal of Pediatric Urology
Tasnia Matin, Mohammed Naseemuddin, Mohamed Shoreibah, Peng Li, Kondal Kyanam Kabir Baig, Charles Mel Wilcox, Shajan Peter
AIM: To study and describe patients who underwent treatment for gastric antral vascular ectasia (GAVE) with different endoscopic treatment modalities. METHODS: We reviewed patients with GAVE who underwent treatment at University of Alabama at Birmingham between March 1, 2012 and December 31, 2016. Included patients had an endoscopic diagnosis of GAVE with associated upper gastrointestinal bleeding or iron deficiency anemia. RESULTS: Seven out of 15 patients had classic watermelon description for GAVE, 1/15 with diffuse/honeycomb pattern and 6/15 with nodular GAVE per EGD description...
January 16, 2018: World Journal of Gastrointestinal Endoscopy
Daniel Rodger, Bruce P Blackshaw, Clinton Wilcox
In 'Pro-life arguments against infanticide and why they are not convincing' Joona Räsänen argues that Christopher Kaczor's objections to Giubilini and Minerva's position on infanticide are not persuasive. We argue that Räsänen's criticism is largely misplaced, and that he has not engaged with Kaczor's strongest arguments against infanticide. We reply to each of Räsänen's criticisms, drawing on the full range of Kaczor's arguments, as well as adding some of our own.
January 25, 2018: Bioethics
Lindsay Alpert, Reetesh K Pai, Amitabh Srivastava, Wendy McKinnon, Rebecca Wilcox, Rhonda K Yantiss, Ramir Arcega, Hanlin L Wang, Marie E Robert, Xiuli Liu, Rish K Pai, Lei Zhao, Maria Westerhoff, Heather Hampel, Sonia Kupfer, Namrata Setia, Shu-Yuan Xiao, John Hart, Wendy L Frankel
CONTEXT: - Isolated loss of PMS2 staining is an uncommon immunophenotype in colorectal carcinomas, accounting for approximately 4% of tumors with microsatellite instability. Limited information regarding these tumors is available in the literature. OBJECTIVE: - To compare the clinicopathologic features of colorectal carcinomas with isolated PMS2 loss by immunohistochemistry to those with other forms of mismatch repair deficiency. DESIGN: - Ninety-three colorectal carcinomas with isolated PMS2 loss by immunohistochemistry and 193 with other forms of mismatch repair deficiency were identified...
January 16, 2018: Archives of Pathology & Laboratory Medicine
Neil James Reilly, Gabriel da Silva, Callan M Wilcox, Zijun Ge, Damian L Kokkin, Tyler P Troy, Klaas Nauta, Scott H Kable, Michael C McCarthy, Timothy W Schmidt
The products of an electrical discharge containing toluene are interrogated using resonance-enhanced multiphoton ionization and laser-induced fluorescence spectroscopies. A previously unreported electronic spectrum recorded at m/z = 105, with a putative origin band at 26053 cm-1, is assigned to methyltropyl radical, which appears to be a major product of the toluene discharge, plausibly arising from CH insertion. All three o-, m- and p-xylyl isomers are also identified. These isomers are detected in electrical discharges containing various xylenes, where it is also found that interconversion occurs: A discharge of o-xylene produces some m-xylyl; a discharge of m-xylene produces some o-xylyl; and a discharge of p-xylene produces all three isomers...
January 15, 2018: Journal of Physical Chemistry. A
Anja Rudolph, Minsun Song, Mark N Brook, Roger L Milne, Nasim Mavaddat, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Amber N Wilcox, John L Hopper, Melissa C Southey, Renske Keeman, Peter A Fasching, Matthias W Beckmann, Manuela Gago-Dominguez, Jose E Castelao, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Hermann Brenner, Volker Arndt, Hiltrud Brauch, Thomas Brüning, Arto Mannermaa, Veli-Matti Kosma, Diether Lambrechts, Machteld Keupers, Fergus J Couch, Celine Vachon, Graham G Giles, Robert J MacInnis, Jonine Figueroa, Louise Brinton, Kamila Czene, Judith S Brand, Marike Gabrielson, Keith Humphreys, Angela Cox, Simon S Cross, Alison M Dunning, Nick Orr, Anthony Swerdlow, Per Hall, Paul D P Pharoah, Marjanka K Schmidt, Douglas F Easton, Nilanjan Chatterjee, Jenny Chang-Claude, Montserrat García-Closas
Background: Polygenic risk scores (PRS) for breast cancer can be used to stratify the population into groups at substantially different levels of risk. Combining PRS and environmental risk factors will improve risk prediction; however, integrating PRS into risk prediction models requires evaluation of their joint association with known environmental risk factors. Methods: Analyses were based on data from 20 studies; datasets analysed ranged from 3453 to 23 104 invasive breast cancer cases and similar numbers of controls, depending on the analysed environmental risk factor...
January 5, 2018: International Journal of Epidemiology
David Manners, Helen Wilcox, Annette McWilliams, Francesco Piccolo, Helena Liira, Fraser Brims
Lung cancer screening with low dose computed tomography (LDCT) is recommended in the USA and Canada for high-risk smokers but not in Australia. We administered a cross-sectional survey to Western Australian general practitioners (GP). The majority (64/93, 69%) reported requesting a screening chest X-ray (42/93, 45%) and/or LDCT (38/93, 41%) in the past year. LDCT screening was more common if the GP had received education from radiology practices (odds ratio (OR) 2.81, P = 0.03) or if they believed screening is funded by the Medical Benefits Scheme (OR 3...
January 2018: Internal Medicine Journal
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