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https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#1
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098551/seroprevalence-and-transmission-of-human-influenza-a-h5n1-virus-before-and-after-virus-reassortment-cambodia-2006-2014
#2
Sowath Ly, Paul Horwood, Malen Chan, Sareth Rith, Sopheak Sorn, Kunthea Oeung, Kunthy Nguon, Siam Chan, Phalla Y, Amy Parry, Reiko Tsuyuoka, Sovann Ly, Beat Richner, Denis Laurent, Sirenda Vong, Philippe Dussart, Philippe Buchy, Arnaud Tarantola
Thirty-five human influenza A(H5N1) cases were reported in Cambodia during 2013-2014 after emergence of a clade 1.1.2 reassortant virus. We tested 881 villagers and found 2 cases of pauci- or asymptomatic infection. Seroprevalence after emergence of the reassortant strain (0.2%) was lower than the aggregate seroprevalence of 1.3% reported in earlier studies.
February 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28098067/renal-function-in-type-2-diabetes-following-gastric-bypass
#3
Adrian T Billeter, Stefan Kopf, Martin Zeier, Katharina Scheurlen, Lars Fischer, Thilo M Schulte, Hannes G Kenngott, Barbara Israel, Philipp Knefeli, Markus W Büchler, Peter P Nawroth, Beat P Müller-Stich
BACKGROUND: Metabolic surgery for obese patients with type 2 diabetes (T2D) yields short- and long-term remission rates of 60-90%. Its effects on diabetesassociated complications such as neuropathy and nephropathy have not been well studied to date. Hardly any data are available on this subject with respect to moderately obese patients (body mass index [BMI] 25-35 kg/m2) with insulin-dependent T2D. Our previous studies suggest that, in such patients, treatment with a Roux-en-Y gastric bypass (RYGB) improves diabetic neuropathy...
December 9, 2016: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28097913/cost-consequence-analysis-of-different-active-flowable-hemostatic-matrices-in-cardiac-surgical-procedures
#4
D Makhija, M Rock, Y Xiong, J D Epstein, M R Arnold, O M Lattouf, D Calcaterra
BACKGROUND: A recent retrospective comparative effectiveness study found that use of FLOSEAL® Hemostatic Matrix in cardiac surgery was associated with significantly lower risks of complications, blood transfusions, surgical revisions and shorter length of surgery than use of SURGIFLO(®) Hemostatic Matrix. These outcome improvements in cardiac surgery procedures may translate to economic savings for hospitals and payers. OBJECTIVE: The objective of this study was to estimate the cost-consequence of two flowable hemostatic matrices (FLOSEAL or SURGIFLO) in cardiac surgeries for US hospitals...
January 18, 2017: Journal of Medical Economics
https://www.readbyqxmd.com/read/28097615/trends-in-injection-risk-behaviors-among-people-who-inject-drugs-and-the-impact-of-harm-reduction-programs-in-ukraine-2007-2013
#5
Iuliia Makarenko, D C Ompad, Y Sazonova, T Saliuk, J DeHovitz, L Gensburg
The study examined trends in injection risk behaviors among people who inject drugs (PWIDs) and assessed the impact of harm reduction programs in Ukraine during 2007-2013. We performed a secondary analysis of the data collected in serial cross-sectional bio-behavioral surveillance surveys administered with PWIDs in Ukraine in 2007, 2008, 2011, and 2013. Using data from 14 Ukrainian cities, we assessed short-term trends in injection risk behaviors with the Cochran-Armitage test for trend and multivariable logistic regression models, adjusted for age, sex, region, marital status, education level, occupation, age at injection drug use initiation, experience of overdose, and self-reported HIV status...
January 17, 2017: Journal of Urban Health: Bulletin of the New York Academy of Medicine
https://www.readbyqxmd.com/read/28097368/incidence-of-and-risk-factors-for-skin-cancer-in-organ-transplant-recipients-in-the-united-states
#6
Giorgia L Garrett, Paul D Blanc, John Boscardin, Amanda Abramson Lloyd, Rehana L Ahmed, Tiffany Anthony, Kristin Bibee, Andrew Breithaupt, Jennifer Cannon, Amy Chen, Joyce Y Cheng, Zelma Chiesa-Fuxench, Oscar R Colegio, Clara Curiel-Lewandrowski, Christina A Del Guzzo, Max Disse, Margaret Dowd, Robert Eilers, Arisa Elena Ortiz, Caroline Morris, Spring K Golden, Michael S Graves, John R Griffin, R Samuel Hopkins, Conway C Huang, Gordon Hyeonjin Bae, Anokhi Jambusaria, Thomas A Jennings, Shang I Brian Jiang, Pritesh S Karia, Shilpi Khetarpal, Changhyun Kim, Goran Klintmalm, Kathryn Konicke, Shlomo A Koyfman, Charlene Lam, Peter Lee, Justin J Leitenberger, Tiffany Loh, Stefan Lowenstein, Reshmi Madankumar, Jacqueline F Moreau, Rajiv I Nijhawan, Shari Ochoa, Edit B Olasz, Elaine Otchere, Clark Otley, Jeremy Oulton, Parth H Patel, Vishal Anil Patel, Arpan V Prabhu, Melissa Pugliano-Mauro, Chrysalyne D Schmults, Sarah Schram, Allen F Shih, Thuzar Shin, Seaver Soon, Teresa Soriano, Divya Srivastava, Jennifer A Stein, Kara Sternhell-Blackwell, Stan Taylor, Allison Vidimos, Peggy Wu, Nicholas Zajdel, Daniel Zelac, Sarah T Arron
Importance: Skin cancer is the most common malignancy occurring after organ transplantation. Although previous research has reported an increased risk of skin cancer in solid organ transplant recipients (OTRs), no study has estimated the posttransplant population-based incidence in the United States. Objective: To determine the incidence and evaluate the risk factors for posttransplant skin cancer, including squamous cell carcinoma (SCC), melanoma (MM), and Merkel cell carcinoma (MCC) in a cohort of US OTRs receiving a primary organ transplant in 2003 or 2008...
January 11, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28097328/diabetes-outpatient-care-and-acute-complications-before-and-after-high-deductible-insurance-enrollment-a-natural-experiment-for-translation-in-diabetes-next-d-study
#7
J Frank Wharam, Fang Zhang, Emma M Eggleston, Christine Y Lu, Stephen Soumerai, Dennis Ross-Degnan
Importance: High-deductible health plans (HDHPs) have expanded under the Affordable Care Act and are expected to play a major role in the future of US health policy. The effects of modern HDHPs on chronically ill patients and adverse outcomes are unknown. Objective: To determine the association of HDHP with high-priority diabetes outpatient care and preventable acute complications. Design, Setting, and Participants: Controlled interrupted-time-series study using a large national health insurer database from January 1, 2003, to December 31, 2012...
January 9, 2017: JAMA Internal Medicine
https://www.readbyqxmd.com/read/28096973/a-fission-yeast-cell-based-system-for-multidrug-resistant-hiv-1-proteases
#8
Zsigmond Benko, Dong Liang, Ge Li, Robert T Elder, Anindya Sarkar, Jun Takayama, Arun K Ghosh, Richard Y Zhao
BACKGROUND: HIV-1 protease (PR) is an essential enzyme for viral production. Thus, PR inhibitors (PIs) are the most effective class of anti-HIV drugs. However, the main challenge to the successful use of PI drugs in patient treatment is the emergence of multidrug resistant PRs (mdrPRs). This study aimed to develop a fission yeast cell-based system for rapid testing of new PIs that combat mdrPRs. RESULTS: Three mdrPRs were isolated from HIV-infected patients that carried seven (M7PR), ten (M10PR) and eleven (M11PR) PR gene mutations, respectively...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28096758/effects-of-acute-ingestion-of-a-pre-workout-dietary-supplement-with-and-without-p-synephrine-on-resting-energy-expenditure-cognitive-function-and-exercise-performance
#9
Y Peter Jung, Conrad P Earnest, Majid Koozehchian, Elfego Galvan, Ryan Dalton, Dillon Walker, Christopher Rasmussen, Peter S Murano, Mike Greenwood, Richard B Kreider
BACKGROUND: The purpose of this study was to examine the effects of acute ingestion of a pre-workout dietary supplement (PWS) with and without p-synephrine (S) on perceptions of readiness to perform, cognitive function, exercise performance, and markers of safety. METHODS: In a randomized, double-blind, and counterbalanced manner; 25 healthy and recreationally active male and female participants ingested a flavored maltodextrin placebo (PLA), a PWS containing beta-alanine (3 g), creatine nitrate as a salt (2 g), arginine alpha-ketoglutarate (2 g), N-Acetyl-L-Tyrosine (300 mg), caffeine (284 mg), Mucuna pruiriens extract standardized for 15% L-Dopa (15 mg), Vitamin C as Ascorbic Acid (500 mg), niacin (60 mg), folate as folic acid (50 mg), and Vitamin B12 as Methylcobalamin (70 mg) with 2 g of maltodextrin and flavoring; or, the PWS with Citrus aurantium (PWS + S) extract standardized for 30% p-synephrine (20 mg)...
2017: Journal of the International Society of Sports Nutrition
https://www.readbyqxmd.com/read/28096757/effects-of-ingesting-a-pre-workout-dietary-supplement-with-and-without-synephrine-for-8%C3%A2-weeks-on-training-adaptations-in-resistance-trained-males
#10
Y Peter Jung, Conrad P Earnest, Majid Koozehchian, Minye Cho, Nick Barringer, Dillon Walker, Christopher Rasmussen, Mike Greenwood, Peter S Murano, Richard B Kreider
BACKGROUND: The purpose of this study was to examine whether ingesting a pre-workout dietary supplement (PWS) with and without synephrine (S) during training affects training responses in resistance-trained males. METHODS: Resistance-trained males (N = 80) were randomly assigned to supplement their diet in a double-blind manner with either a flavored placebo (PLA); a PWS containing beta-alanine (3 g), creatine nitrate as a salt (2 g), arginine alpha-ketoglutarate (2 g), N-Acetyl-L-Tyrosine (300 mg), caffeine (284 mg), Mucuna pruiriens extract standardized for 15% L-Dopa (15 mg), Vitamin C as Ascorbic Acid (500 mg), niacin (60 mg), folate as folic acid (50 mg), and Vitamin B12 as Methylcobalamin (70 mg); or, the PWS supplement with Citrus aurantium extract containing 20 mg of synephrine (PWS + S) once per day for 8-weeks during training...
2017: Journal of the International Society of Sports Nutrition
https://www.readbyqxmd.com/read/28096416/infrastructure-mitigates-the-sensitivity-of-child-growth-to-local-agriculture-and-rainfall-in-nepal-and-uganda
#11
Gerald E Shively
This paper investigates linear growth and weight gain among 11,946 children below the age of 5 y in Nepal and Uganda, testing the hypothesis that child growth is sensitive to precipitation during key periods in a child's early life. The paper also tests the importance of the economic and physical environments in which children reside. Outcomes are not completely explained by agricultural performance or the observed characteristics of children or their households. Associations between height-for-age z-score (HAZ) and weight-for-height z-score (WHZ) and rainfall are generally positive, but patterns are heterogeneous...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28096409/field-scale-experiments-reveal-persistent-yield-gaps-in-low-input-and-organic-cropping-systems
#12
Alexandra N Kravchenko, Sieglinde S Snapp, G Philip Robertson
Knowledge of production-system performance is largely based on observations at the experimental plot scale. Although yield gaps between plot-scale and field-scale research are widely acknowledged, their extent and persistence have not been experimentally examined in a systematic manner. At a site in southwest Michigan, we conducted a 6-y experiment to test the accuracy with which plot-scale crop-yield results can inform field-scale conclusions. We compared conventional versus alternative, that is, reduced-input and biologically based-organic, management practices for a corn-soybean-wheat rotation in a randomized complete block-design experiment, using 27 commercial-size agricultural fields...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28096393/utility-value-intervention-with-parents-increases-students-stem-preparation-and-career-pursuit
#13
Christopher S Rozek, Ryan C Svoboda, Judith M Harackiewicz, Chris S Hulleman, Janet S Hyde
During high school, developing competence in science, technology, engineering, and mathematics (STEM) is critically important as preparation to pursue STEM careers, yet students in the United States lag behind other countries, ranking 35th in mathematics and 27th in science achievement internationally. Given the importance of STEM careers as drivers of modern economies, this deficiency in preparation for STEM careers threatens the United States' continued economic progress. In the present study, we evaluated the long-term effects of a theory-based intervention designed to help parents convey the importance of mathematics and science courses to their high-school-aged children...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28095930/quantitative-risk-assessment-of-the-introduction-of-rabies-into-japan-through-the-importation-of-dogs-and-cats-worldwide
#14
N C L Kwan, K Sugiura, Y Hosoi, A Yamada, E L Snary
Japan has been free from rabies since 1958. A strict import regimen has been adopted since 2004 consisting of identification of an animal with microchip, two-time rabies vaccination, neutralizing antibody titration test and a waiting period of 180 days. The present study aims to quantitatively assess the risk of rabies introduction into Japan through the international importation of dogs and cats and hence provide evidence-based recommendations to strengthen the current rabies prevention system. A stochastic scenario tree model was developed and simulations were run using @RISK...
January 18, 2017: Epidemiology and Infection
https://www.readbyqxmd.com/read/28095473/the-asymmetric-cell-division-regulators-par3-scribble-and-pins-gpsm2-are-not-essential-for-erythroid-development-or-enucleation
#15
Christina B Wölwer, Nathan Gödde, Luke B Pase, Imogen A Elsum, Krystle Y B Lim, Faruk Sacirbegovic, Carl R Walkley, Sarah Ellis, Shigeo Ohno, Fumio Matsuzaki, Sarah M Russell, Patrick O Humbert
Erythroid enucleation is the process by which the future red blood cell disposes of its nucleus prior to entering the blood stream. This key event during red blood cell development has been likened to an asymmetric cell division (ACD), by which the enucleating erythroblast divides into two very different daughter cells of alternate molecular composition, a nucleated cell that will be removed by associated macrophages, and the reticulocyte that will mature to the definitive erythrocyte. Here we investigated gene expression of members of the Par, Scribble and Pins/Gpsm2 asymmetric cell division complexes in erythroid cells, and functionally tested their role in erythroid enucleation in vivo and ex vivo...
2017: PloS One
https://www.readbyqxmd.com/read/28095086/retinal-findings-and-a-novel-tinf2-mutation-in-revesz-syndrome-clinical-and-molecular-correlations-with-pediatric-retinal-vasculopathies
#16
Mrinali P Gupta, Katherine E Talcott, David Y Kim, Suneet Agarwal, Shizuo Mukai
BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095081/blood-removal-influences-pacing-during-a-4-minute-cycling-time-trial
#17
Nathan G Lawler, Chris R Abbiss, Aaron Raman, Timothy J Fairchild, Garth L Maker, Robert D Trengove, Jeremiah J Peiffer
PURPOSE: To examine the influence of manipulating aerobic contribution following whole blood removal on pacing patterns, performance and energy contribution during self-paced middle distance cycling. METHODS: Seven male cyclists (33 ± 8 y) completed an incremental cycling test followed 20 min later by a 4-min self-paced cycling time trial (4MMP) on six separate occasions over 42 d. The initial two sessions acted as a familiarisation and baseline testing after which 470 mL of blood was removed with the remaining sessions performed 24 h, 7 d, 21 d and 42 d following blood removal...
January 17, 2017: International Journal of Sports Physiology and Performance
https://www.readbyqxmd.com/read/28094873/effects-of-adding-whole-body-vibration-to-routine-day-activity-program-on-physical-functioning-in-elderly-with-mild-or-moderate-dementia-a-randomized-controlled-trial
#18
Freddy M H Lam, L R Liao, Timothy C Y Kwok, Marco Y C Pang
OBJECTIVE: To evaluate the effects of whole-body vibration (WBV) added to a routine activity program on lower limb strength, balance, and mobility among community-dwelling individuals with mild or moderate dementia, compared with the routine program alone. METHODS: Fifty-four older adults (40 women; mean (SD) age: 79.8 (6.1) years) with mild or moderate dementia were recruited from two daycare centers. The participants were randomly allocated to undergo a routine day activity program combined with WBV training (WBV at 30 Hz, 2-mm peak-to-peak amplitude) or the routine program only without WBV for 9 weeks (18 sessions)...
January 17, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28094605/multiple-protocadherins-are-expressed-in-brain-microvascular-endothelial-cells-and-might-play-a-role-in-tight-junction-protein-regulation
#19
Christina Dilling, Norbert Roewer, Carola Y Förster, Malgorzata Burek
Protocadherins (Pcdhs) are a large family of cadherin-related molecules. They play a role in cell adhesion, cellular interactions, and development of the central nervous system. However, their expression and role in endothelial cells has not yet been characterized. Here, we examined the expression of selected clustered Pcdhs in endothelial cells from several vascular beds. We analyzed human and mouse brain microvascular endothelial cell (BMEC) lines and primary cells, mouse myocardial microvascular endothelial cell line, and human umbilical vein endothelial cells...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28094350/significantly-enhanced-creep-resistance-of-low-volume-fraction-in-situ-tibw-ti6al4v-composites-by-architectured-network-reinforcements
#20
S Wang, L J Huang, L Geng, F Scarpa, Y Jiao, H X Peng
We present a new class of TiBw/Ti6Al4V composites with a network reinforcement architecture that exhibits a significant creep resistance compared to monolithic Ti6Al4V alloys. Creep tests performed at temperatures between 773 K and 923 K and stress range of 100 MPa-300 MPa indicate both a significant improvement of the composites creep resistance due to the network architecture made by the TiB whiskers (TiBw), and a decrease of the steady-state creep rates by augmenting the local volume fractions of TiBw in the network region...
January 17, 2017: Scientific Reports
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