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https://www.readbyqxmd.com/read/28653806/assessment-of-large-copy-number-variants-in-patients-with-apparently-isolated-congenital-left-sided-cardiac-lesions-reveals-clinically-relevant-genomic-events
#1
Neil A Hanchard, Luis A Umana, Lisa D'Alessandro, Mahshid Azamian, Mojisola Poopola, Shaine A Morris, Susan Fernbach, Seema R Lalani, Jeffrey A Towbin, Gloria A Zender, Sara Fitzgerald-Butt, Vidu Garg, Jessica Bowman, Gladys Zapata, Patricia Hernandez, Cammon B Arrington, Dieter Furthner, Siddharth K Prakash, Neil E Bowles, Kim L McBride, John W Belmont
Congenital left-sided cardiac lesions (LSLs) are a significant contributor to the mortality and morbidity of congenital heart disease (CHD). Structural copy number variants (CNVs) have been implicated in LSL without extra-cardiac features; however, non-penetrance and variable expressivity have created uncertainty over the use of CNV analyses in such patients. High-density SNP microarray genotyping data were used to infer large, likely-pathogenic, autosomal CNVs in a cohort of 1,139 probands with LSL and their families...
June 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28652459/blood-pressure-antihypertensive-polypharmacy-frailty-and-risk-for-serious-fall-injuries-among-older-treated-adults-with-hypertension
#2
Samantha G Bromfield, Cedric-Anthony Ngameni, Lisandro D Colantonio, C Barrett Bowling, Daichi Shimbo, Kristi Reynolds, Monika M Safford, Maciej Banach, Peter P Toth, Paul Muntner
Antihypertensive medication and low systolic blood pressure (BP) and diastolic BP have been associated with an increased falls risk in some studies. Many older adults have indicators of frailty, which may increase their risk for falls. We contrasted the association of systolic BP, diastolic BP, number of antihypertensive medication classes taken, and indicators of frailty with risk for serious fall injuries among 5236 REGARDS study (Reasons for Geographic and Racial Difference in Stroke) participants ≥65 years taking antihypertensive medication at baseline with Medicare fee-for-service coverage...
June 26, 2017: Hypertension
https://www.readbyqxmd.com/read/28651376/comparison-of-sampling-strategies-for-tobacco-retailer-inspections-to-maximize-coverage-in-vulnerable-areas-and-minimize-cost
#3
Joseph G L Lee, Bonnie E Shook-Sa, J Michael Bowling, Kurt M Ribisl
Introduction: In the United States, tens of thousands of inspections of tobacco retailers are conducted each year. Various sampling choices can reduce travel costs, emphasize enforcement in areas with greater non-compliance, and allow for comparability between states and over time. We sought to develop a model sampling strategy for state tobacco retailer inspections. Methods: Using a 2014 list of 10,161 North Carolina tobacco retailers, we compared results from simple random sampling; stratified, clustered at the ZIP code sampling; and, stratified, clustered at the census tract sampling...
June 23, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28650002/cabozantinib-use-in-renal-cell-carcinoma
#4
A J Neuwelt, S Mathur, A T Johnson, E R Kessler, D W Bowles
In the last several years, many new drugs have been approved to treat metastatic renal cell carcinoma (RCC). Cabozantinib is a novel multikinase inhibitor with activity against vascular endothelial growth factor receptor (VEGFR), proto-oncogene tyrosine-protein kinase receptor Ret and other kinases that recently joined this impressive list of approved agents. Cabozantinib is an active agent in the preclinical and clinical setting, having recently demonstrated superiority over everolimus in a blinded, randomized phase III study of patients with progressive RCC after at least one prior line of antiangiogenic therapy...
May 2017: Drugs of Today
https://www.readbyqxmd.com/read/28643360/a-new-wrinkle-in-oligoarylene-architecture
#5
Graham J Bodwell
Bowl me over! A breathtaking bowl-shaped oligoarylene has been created. The structure is analogous to that of corranulene, but instead of twenty sp(2) -hybridized carbon atoms, the new nanometer-sized molecule has been constructed using twenty 1,3,5-trisubstituted benzene rings.
June 23, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28640195/pharmacogenomic-variants-may-influence-the-urinary-excretion-of-novel-kidney-injury-biomarkers-in-patients-receiving-cisplatin
#6
Cara Chang, Yichun Hu, Susan L Hogan, Nickie Mercke, Madeleine Gomez, Cindy O'Bryant, Daniel W Bowles, Blessy George, Xia Wen, Lauren M Aleksunes, Melanie S Joy
Nephrotoxicity is a dose limiting side effect associated with the use of cisplatin in the treatment of solid tumors. The degree of nephrotoxicity is dictated by the selective accumulation of cisplatin in renal tubule cells due to: (1) uptake by organic cation transporter 2 (OCT2) and copper transporter 1 (CTR1); (2) metabolism by glutathione S-transferases (GSTs) and γ-glutamyltransferase 1 (GGT1); and (3) efflux by multidrug resistance-associated protein 2 (MRP2) and multidrug and toxin extrusion protein 1 (MATE1)...
June 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28637356/-footsnap-a-new-mobile-application-for-standardizing-diabetic-foot-images
#7
Moi Hoon Yap, Katie E Chatwin, Choon-Ching Ng, Caroline A Abbott, Frank L Bowling, Satyan Rajbhandari, Andrew J M Boulton, Neil D Reeves
BACKGROUND: We describe the development of a new mobile app called "FootSnap," to standardize photographs of diabetic feet and test its reliability on different occasions and between different operators. METHODS: FootSnap was developed by a multidisciplinary team for use with the iPad. The plantar surface of 30 diabetic feet and 30 nondiabetic control feet were imaged using FootSnap on two separate occasions by two different operators. Reproducibility of foot images was determined using the Jaccard similarity index (JSI)...
June 1, 2017: Journal of Diabetes Science and Technology
https://www.readbyqxmd.com/read/28632787/risk-of-alzheimer-s-disease-or-dementia-following-a-cancer-diagnosis
#8
Erin J Aiello Bowles, Rod L Walker, Melissa L Anderson, Sascha Dublin, Paul K Crane, Eric B Larson
OBJECTIVE: We evaluated dementia and Alzheimer's disease (AD) risks after a cancer diagnosis in a population-based prospective cohort, the Adult Changes in Thought (ACT) study. METHODS: We followed community-dwelling people aged ≥65 years without dementia at study entry for incident dementia and AD from 1994-2015. We linked study data with cancer registry data and categorized cancer diagnoses as prevalent (diagnosed before ACT study enrollment) or incident (diagnosed during follow-up)...
2017: PloS One
https://www.readbyqxmd.com/read/28631127/toxicity-of-cypermethrin-on-the-embryo-and-larvae-of-gangetic-mystus-mystus-cavasius
#9
Md Haider Ali, Kizar Ahmed Sumon, Marin Sultana, Harunur Rashid
The objective of the present study was to elucidate the effects of cypermethrin on the embryo and the larvae of Gangetic mystus, Mystus cavasius. Therefore, fertilized eggs (n = 100) and 1-day-old larvae (n = 100) were exposed to six different concentrations of cypermethrin (0, 2, 4, 8, 16 and 32 μg L(-1)) in each of the 18 plastic bowls. Each of the treatment and control was maintained in three replicates. The LC10 and LC50 values for Gangetic mystus embryos and larvae were calculated using probit analysis...
June 19, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28630700/retorting-conditions-affect-palatability-and-physical-characteristics-of-canned-cat-food
#10
Esther A Hagen-Plantinga, Denmark F Orlanes, Guido Bosch, Wouter H Hendriks, Antonius F B van der Poel
The effects of different temperature and time conditions during retorting of canned cat food on physicochemical characteristics and palatability were examined. For this purpose, lacquer cans containing an unprocessed loaf-type commercial cat food were heated in a pressurised retorting system at three specified temperature-time profiles (113°C/232 min, 120°C/103 min and 127°C/60 min) to equal a similar lethality (F0 value = 30). Physicochemical properties (viscosity, texture, particle size, pH) were determined, and a 10 d three-bowl palatability test was performed with ten European shorthair cats...
2017: Journal of Nutritional Science
https://www.readbyqxmd.com/read/28629424/evaluation-of-the-international-standardized-24-h-dietary-recall-methodology-globodiet-for-potential-application-in-research-and-surveillance-within-african-settings
#11
Elom Kouassivi Aglago, Edwige Landais, Geneviève Nicolas, Barrie Margetts, Catherine Leclercq, Pauline Allemand, Olaide Aderibigbe, Victoire Damienne Agueh, Paul Amuna, George Amponsah Annor, Jalila El Ati, Jennifer Coates, Brooke Colaiezzi, Ella Compaore, Hélène Delisle, Mieke Faber, Robert Fungo, Inocent Gouado, Asmaa El Hamdouchi, Waliou Amoussa Hounkpatin, Amoin Georgette Konan, Saloua Labzizi, James Ledo, Carol Mahachi, Segametsi Ditshebo Maruapula, Nonsikelelo Mathe, Muniirah Mbabazi, Mandy Wilja Mirembe, Carmelle Mizéhoun-Adissoda, Clement Diby Nzi, Pedro Terrence Pisa, Karima El Rhazi, Francis Zotor, Nadia Slimani
BACKGROUND: Collection of reliable and comparable individual food consumption data is of primary importance to better understand, control and monitor malnutrition and its related comorbidities in low- and middle-income countries (LMICs), including in Africa. The lack of standardised dietary tools and their related research support infrastructure remains a major obstacle to implement concerted and region-specific research and action plans worldwide. Citing the magnitude and importance of this challenge, the International Agency for Research on Cancer (IARC/WHO) launched the "Global Nutrition Surveillance initiative" to pilot test the use of a standardized 24-h dietary recall research tool (GloboDiet), validated in Europe, in other regions...
June 19, 2017: Globalization and Health
https://www.readbyqxmd.com/read/28627293/new-evidence-of-relative-age-effects-in-super-elite-sportsmen-a-case-for-the-survival-and-evolution-of-the-fittest
#12
Benjamin D Jones, Gavin P Lawrence, Lew Hardy
The relative age effect (RAE) describes an overrepresentation of players born early (Q1) in a selection year and is highly prevalent within youth sport pathways. However, a dearth of research has investigated the RAE at the "super-elite" level. The present research assessed the presence of RAE in super-elite performers. Study 1 investigated RAEs in the world's best international Test cricketers (N = 262) over a 20-year period according to a robust and stringent "super-elite" criteria. Results revealed the RAE (Q1) when all disciplines were combined...
June 19, 2017: Journal of Sports Sciences
https://www.readbyqxmd.com/read/28625659/abnormal-semantic-knowledge-in-a-case-of-developmental-amnesia
#13
Anna Blumenthal, Devin Duke, Ben Bowles, Asaf Gilboa, R Shayna Rosenbaum, Stefan Köhler, Ken McRae
An important theory holds that semantic knowledge can develop independently of episodic memory. One strong source of evidence supporting this independence comes from the observation that individuals with early hippocampal damage leading to developmental amnesia generally perform normally on standard tests of semantic memory, despite their profound impairment in episodic memory. However, one aspect of semantic memory that has not been explored is conceptual structure. We built on the theoretically important distinction between intrinsic features of object concepts (e...
June 15, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28624041/effects-of-replacing-saline-solution-during-surgery-for-colon-cancer-in-korea
#14
Eun Mi Ham, Sul Hee Lee
BACKGROUND: Surgical site infections are often linked to contamination of saline solution by the patient's organs, doctors' and nurses' hands, or surgical instruments. Scrub nurses also use the saline solution to soften sutures or moisturize gauze. Therefore, we performed a randomized study of Korean clean-contaminated surgeries for colon cancer to evaluate whether replacing saline solution affected the level of contamination. MATERIALS AND METHODS: In the control group (n = 26), normal saline was not replaced during surgery...
June 15, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28617415/oral-d-galactose-supplementation-in-pgm1-cdg
#15
Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, Tomas Honzik, Hana Hansikova, Katja S Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut-Cegielska, Dieter Koch, Jozef Hertecant, Graeme Preston, Jaak Jaeken, Nicole Peeters, Stefanie Perez, David Do Nguyen, Kea Crivelly, Tim Emmerzaal, K Michael Gibson, Kimiyo Raymond, Nurulamin Abu Bakar, Francois Foulquier, Gernot Poschet, Amanda M Ackermann, Miao He, Dirk J Lefeber, Christian Thiel, Tamas Kozicz, Eva Morava
PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-gal) showed clinical improvement. So far no systematic in vitro and clinical studies have assessed safety and benefits of D-gal supplementation. In a prospective pilot study, we evaluated the effects of oral D-gal in nine patients.MethodsD-gal supplementation was increased to 1.5 g/kg/day (maximum 50 g/day) in three increments over 18 weeks...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28615867/first-record-of-a-rare-transversotrematid-cercaria-larva-trematoda-digenea-from-rajasthan-india-focus-on-seasonal-occurrence-and-host-specificity-of-diverse-cercariae
#16
Shanti Lal Choubisa, Vishva Jeet Jaroli, Zulfiya Sheikh
During the survey of freshwater snail hosts and their digenean larval trematode parasites, a rare cercaria larva belonging to family Transversotrematidae and subclass Digenea (Trematoda) was recovered from the snail species Melanoides striatella tuberculata inhabiting perennial Som river of Udaipur district, Rajasthan, India. More than 28 % mature specimens of these snails were found to be infected with transversotrematid cercaria larvae in the spring season. Body of this cercaria is large, bowl-shaped, biocellate, spinose, transparent and laterally extended having two pigmented eye spots, two hold fast organs extended from the junction of body and tail, large tail with two foliated furcal rami, and cyclocoel intestinal caeca...
June 2017: Journal of Parasitic Diseases: Official Organ of the Indian Society for Parasitology
https://www.readbyqxmd.com/read/28613897/radical-ions-of-a-%C3%AF-bowl-sumanene-effects-of-strained-structure-on-the-electronic-transitions
#17
Mamoru Fujitsuka, Sachiko Tojo, Toru Amaya, Toshikazu Hirao, Tetsuro Majima
Strained polyaromatic carbon molecules exhibit interesting properties owing to enhanced interactions between p orbitals of sp(2) carbons; sumanene (SUM) is one of these bowl-shaped π-conjugated molecules (π-bowls). In the present study, the radical cation and radical anion of SUM were characterized by radiation chemical methods, that is, pulse radiolysis and γ-ray radiolysis. Absorption spectra of the SUM radical cation and radical anion in a wide spectral region ranging from the visible to near-IR were successfully obtained...
June 23, 2017: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/28613122/water-quality-and-inuit-health-an-examination-of-drinking-water-consumption-perceptions-and-contamination-in-rigolet-canada
#18
Carlee Wright
Canadian Inuit have often reported concerns about the quality of their municipal drinking water; research has also shown that some Inuit communities experience some of the highest incidence rates of self-reported acute gastrointestinal illness (AGI) in Canada and globally. The goal of this thesis research was to investigate drinking water perceptions and consumption patterns, as well as water contamination and potential associations with AGI in the Inuit community of Rigolet, Canada. Three census cross-sectional surveys captured data on AGI, drinking water, and water storage (2012-2014); additionally, bacterial contamination of household drinking water was assessed alongside the 2014 survey...
2017: International Journal of Circumpolar Health
https://www.readbyqxmd.com/read/28611170/go-karting-injury-a-case-of-laryngeal-trauma
#19
Marina Brimioulle, Matthew King, Philippe Bowles, Nicholas Saunders
We report a case of accidental strangulation and crush injury to the anterior neck resulting in laryngeal trauma. This extremely uncommon mechanism of injury provides a safety warning regarding precautions with neck wear, and the unusual resulting injury represents an opportunity to review best practice in management of laryngeal trauma.
June 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28605022/forensic-analysis-of-stains-on-fabric-using-direct-analysis-in-real-time-ionization-with-high-resolution-accurate-mass-mass-spectrometry
#20
Sara E Kern, John B Crowe, Jonathan J Litzau, Douglas T Heitkemper
A rapid technique using direct analysis in real-time (DART) ambient ionization coupled to a high-resolution accurate mass-mass spectrometer (HRAM-MS) was employed to analyze stains on an individual's pants suspected to have been involved in a violent crime. The victim was consuming chocolate ice cream at the time of the attack, and investigators recovered the suspect's pants exhibiting splatter stains. Liquid chromatography with mass spectral detection (LC-MS) and stereoscopic light microscopy (SLM) were also utilized in this analysis...
June 12, 2017: Journal of Forensic Sciences
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