716 research outputs found
Enhancing career development of postdoctoral trainees: act locally and beyond
Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/149264/1/tjp13462.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/149264/2/tjp13462_am.pd
Parental Attitudes toward Genetic Testing for Pediatric Deafness
Recent molecular genetic advances have resulted in genetic testing becoming an option for deaf individuals and their families. However, there is little information about the interest in such testing. To investigate this issue, parents with normal hearing who have one or more deaf children were surveyed about their attitudes toward diagnostic, carrier, and prenatal genetic testing for deafness. This population was chosen because it represents the majority of individuals who are encountered in clinical practice, given that 90%–95% of deaf individuals are born to persons with normal hearing. Of 328 surveys distributed, 96 were completed and returned. Of the respondents, 96% recorded a positive attitude toward genetic testing for deafness, including prenatal testing, although none would use this information to terminate an affected pregnancy. All respondents had a poor understanding of genetics, with 98% both incorrectly estimating the recurrence risk of deafness and misunderstanding the concept of inheritance. Notably, these findings were similar in the group who had had genetic testing for their children and in the group who had not, suggesting either that the parents who received genetic testing did not receive genetic counseling or that the counseling was not effective. On the basis of these results, it was concluded that this population is interested in the use of genetic testing and that testing should not be done without first providing formal genetic counseling. Appropriate counseling can help parents to understand the risks, benefits, and limitations of genetic testing
Assessing the combined effect of surface topography and substrate rigidity in human bone marrow stem cell cultures
The combined effect of surface topography and substrate rigidity in stem cell cultures is still under-investigated, especially when biodegradable polymers are used. Herein, we assessed human bone marrow stem cell response on aliphatic polyester substrates as a function of anisotropic grooved topography and rigidity (7 and 12 kPa). Planar tissue culture plastic (TCP, 3 GPa) and aliphatic polyester substrates were used as controls. Cell morphology analysis revealed that grooved substrates caused nuclei orientation/alignment in the direction of the grooves. After 21 days in osteogenic and chondrogenic media, the 3 GPa TCP and the grooved 12 kPa substrate induced significantly higher calcium deposition and alkaline phosphatase (ALP) activity and glycosaminoglycan (GAG) deposition, respectively, than the other groups. After 14 days in tenogenic media, the 3 GPa TCP upregulated four and downregulated four genes; the planar 7 kPa substrate upregulated seven genes and downregulated one gene; and the grooved 12 kPa substrate upregulated seven genes and downregulated one gene. After 21 days in adipogenic media, the softest (7 kPa) substrates induced significantly higher oil droplet deposition than the other substrates and the grooved substrate induced significantly higher droplet deposition than the planar. Our data pave the way for more rational design of bioinspired constructs.This work has also received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie, grant agreement No. 676338, the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme, grant agreement No. 866126 and the European Union’s Horizon 2020 research and innova tion Widespread: Twinning programme, grant agreement No. 810850. This publication has emanated from research supported in part by grants from Science Foundation Ireland (SFI) under Grant numbers 15/CDA/3629 and 19/FFP/6982 and Science Foundation Ireland (SFI) and European Regional Development Fund (ERDF) under grant number 13/RC/2073_2. E.M.F. acknowledges to the project TERM RES Hub – Infraestrutura Científica para a
Engenharia de Tecidos e Medicina Regenerativa, Ref Num ber NORTE-01-0145-FEDER-02219015. The authors would like to acknowledge the significant contribution of Dr Oonagh Dwane in the writing and management of all grants. Open access funding provided by IReL
The effects of graded levels of concentrate supplementation on colour and lipid stability of beef from pasture finished late-maturing bulls
peer-reviewedFinishing late-maturing bulls on grass may alter the antioxidant/prooxidant balance leading to beef with higher susceptibility to lipid oxidation and a lower colour stability compared to bulls finished on cereal concentrates. In this context, lipid oxidation and colour stability of beef from late-maturing bulls finished on pasture, with or without concentrate supplements, or indoors on concentrate was assessed. Charolais or Limousin sired bulls (n = 48) were assigned to four production systems: (1) pasture only (P), (2) pasture plus 25% dietary DM intake as barley-based concentrate (PC25), (3) pasture plus 50% dietary DM intake as barley-based concentrate (PC50) or (4) a barley-based concentrate ration (C). Following slaughter and postmortem ageing, M. Longissimus thoracis et lumborum was subjected to simulated retail display (4°C, 1000 lux for 12 h out of 24 h) for 3, 7, 10 and 14 days in modified atmosphere packs (O2 : CO2; 80 : 20). Lipid oxidation was determined using the 2-thiobarbituric acid-reactive substances assay; α-tocopherol was determined by HPLC; fatty acid methyl esters were determined using Gas Chromatography. Using a randomised complete block design, treatment means were compared by either ANOVA or repeated measures ANOVA using the MIXED procedure of SAS. Total polyunsaturated fatty acid (PUFA) concentrations were not affected by treatment, n-3 PUFAs were higher (P < 0.001) and the ratio of n-6 to n-3 PUFAs was lower (P < 0.001) in muscle from P, PC25 and PC50 compared to C. α-Tocopherol concentration was higher in muscle from P compared to PC50 and C bulls (P = 0.001) and decreased (P < 0.001) in all samples by day 14. Lipid oxidation was higher in muscle from C compared to P bulls on day 10 and day 14 of storage (P < 0.01). Finishing on pasture without supplementation did not affect beef colour stability and led to lower lipid oxidation, possibly due to the higher α-tocopherol concentration compared to concentrate finished beef
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease
XMEN (X-linked immunodeficiency with magnesium defect) is caused by loss-of-function mutations in MAGT1 which is encoded on the X chromosome. The disorder is characterised by CD4 lymphopenia, severe chronic viral infections and defective T-lymphocyte activation. XMEN patients are susceptible to Epstein-Barr virus infections and persistently low levels of intracellular Mg2+. Here we describe a patient that presented with multiple recurrent infections and a subsequent diffuse B-cell lymphoma. Molecular genetic analysis by exome sequencing identified a novel hemizygous MAGT1 nonsense mutation c.1005T>A (NM_032121.5) p.(Cys335*), confirming a diagnosis of XMEN deficiency. Follow-up immunophenotyping was performed by antibody staining and flow cytometry; proliferation was determined by 3H-thymidine uptake after activation by PHA and anti-CD3. Cytotoxic natural killer cell activity was assessed with K562 target cells using the NKTESTTM assay. While lymphocyte populations were superficially intact, B cells were largely naive with a reduced memory cell compartment. Translated NKG2D was absent on both NK and T cells in the proband, and normally expressed in the carrier mother. In vitro NK cell activity was intact in both the proband and his mother. This report adds to the growing number of identified XMEN cases, raising awareness of a, still rare, X-linked immunodeficiency
The Colour, Composition and Eating Quality of Beef from Late- or Early-Maturing Suckler Bulls Finished at Pasture with or without Concentrate Supplementation
Carcasses from pasture-finished early-maturing (EM), rather than late-maturing (LM), breed bulls may be more suited to meet the minimum carcass fatness classification of 2+ (6.0 on a 15-point scale) required for some markets. The comparative colour and eating quality of beef from grass-fed bulls of different maturities are unknown. Sixty yearling suckler-bred bulls were assigned to a 2 (maturities: EM and LM) × 2 (finishing strategies: grass only (G0) or grass + 4.0 kg concentrate daily (GC)) factorial design. Bulls were at pasture from 7 April, concentrates were introduced (or not) 97 days later, and bulls were slaughtered at 192 d post-turnout (approximately 19 mo of age). Carcass fat scores averaged 5.02, 6.20, 6.33 and 7.30 for LMG0, LMGC, EMG0 and EMGC bulls, respectively. Muscle colour did not differ between treatments. Muscle from LM had lower intramuscular fat concentration, collagen solubility and a tendency (p < 0.1) towards lower ratings for tenderness, texture, and acceptability of 14 d aged beef. Concentrate supplementation decreased the ratings for muscle tenderness but ratings for acceptability were not affected. Achieving the minimum carcass fatness was therefore not required to produce beef of acceptable eating quality and suckler bulls can access the “grass-fed” beef market.This project (11/SF/322, “BullBeef”) was funded by the Irish Department of Agriculture, Food and the Marine’s competitive research programmes
Electrochemical sensors for worker safety in manufacturing industries
The National Institute for Occupational Safety and Health has attributed most occupational diseases of industrial workers to excessive exposure to dangerous substances. In particular, occupational lung diseases are caused by the inhalation of harmful substances such as dust particles and gases [1].
The use of DPI and periodic health checks for industrial workers certainly reduces risks, but a more effective prevention strategy should include real-time monitoring of physiological parameters [2].
In this context, recent academic and industrial research has focused on the development of smart wearable systems for continuous health monitoring. This has been possible mainly due to significant progress in micro- and nanotechnology and the miniaturization of devices [3]. In such regard, electrochemical sensors represent a promising alternative due to their speed of response, simplicity of operation, and lower cost than traditional methods of diagnosis [4].
This research activity involves the development of a smart mask based on an electrochemical sensor for the non-invasive detection of hydrogen peroxide in exhaled breath. In particular, a higher concentration of this biomarker indicates the onset of oxidative stress, a pathological condition that can lead to more serious diseases, such as asthma and COPD (Chronic Obstructive Pulmonary Disease) [5].
This sensor was fabricated through a sustainable production process, from the CDs at the end of life because their silver layer can be used for its good electrochemical properties. In particular, this layer was peeled off the CD and a three electrodes configuration was given using a laser cutter
The first bite: Imaginaries, promotional publics and the laboratory grown burger
In this paper we analyse a 2013 press conference hosting the world’s first tasting of a laboratory grown hamburger. We explore this as a media event: an exceptional performative moment in which common meanings are mobilised and a connection to a shared centre of reality is offered. We develop our own theoretical contribution – the promotional public – to characterise the affirmative and partial patchwork of carefully selected actors invoked during the burger tasting. Our account draws upon three areas of analysis: interview data with the scientists who developed the burger, media analysis of the streamed press conference itself, and media analysis of the social media tail during and following the event. We argue that the call to witness an experiment is a form of promotion but that such promotional material also offers an address that invokes a public with its attendant tensions.The research leading to this publication has received funding from the European Community’s Seventh Framework Programme (FP7/2007–2013) under grant agreement number 288971 (EPINET). Neil Stephens’ involvement has also received the support of the Economic and Social Research Council (ESRC). His work
is part of the Research Programme of the ESRC Genomics Network at Cesagen (ESRC Centre for Economic and Social Aspects of Genomics). Neil Stephens’ work was also supported by the Wellcome Trust (WT096541MA) and a visiting scholarship to CGS Centre for Society and Genomics in The Netherlands, May to July 2011. This support is gratefully acknowledge
Empathy at Play:Embodying Posthuman Subjectivities in Gaming
In this article, we address the need for a posthuman account of the relationship between the avatar and player. We draw on a particular line of posthumanist theory associated closely with the work of Karen Barad, Rosi Braidotti and N. Katherine Hayles that suggests a constantly permeable, fluid and extended subjectivity, displacing the boundaries between human and other. In doing so, we propose a posthuman concept of empathy in gameplay, and we apply this concept to data from the first author’s 18-month ethnographic field notes of gameplay in the MMORPG World of Warcraft. Exploring these data through our analysis of posthuman empathy, we demonstrate the entanglement of avatar–player, machine–human relationship. We show how empathy allows us to understand this relationship as constantly negotiated and in process, producing visceral reactions in the intra-connected avatar–player subject as well as moments of co-produced in-game action that require ‘affective matching’ between subjective and embodied experiences. We argue that this account of the avatar–player relationship extends research in game culture, providing a horizontal, non-hierarchical discussion of its most necessary interaction
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