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Rebecca wong

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https://www.readbyqxmd.com/read/28805828/mutations-in-keops-complex-genes-cause-nephrotic-syndrome-with-primary-microcephaly
#1
Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A Lawson, Denny Schanze, Shazia Ashraf, Jeremy F P Ullmann, Charlotte A Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer F Hu, Anne-Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won-Il Choi, Carolin E Sadowski, Werner L Pabst, Jillian K Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, Malcolm Bruce, Gaik-Siew Ch'ng, Shuan-Pei Lin, Jui-Hsing Chang, Chao-Huei Chen, Megan T Cho, Patrick M Gaffney, Patrick E Gipson, Chyong-Hsin Hsu, Jameela A Kari, Yu-Yuan Ke, Cathy Kiraly-Borri, Wai-Ming Lai, Emmanuelle Lemyre, Rebecca Okashah Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Ozaltin, Marleen Praet, Chitra Prasad, Agnieszka Prytula, Elizabeth R Roeder, Patrick Rump, Rhonda E Schnur, Takashi Shiihara, Manish D Sinha, Neveen A Soliman, Kenza Soulami, David A Sweetser, Wen-Hui Tsai, Jeng-Daw Tsai, Rezan Topaloglu, Udo Vester, David H Viskochil, Nithiwat Vatanavicharn, Jessica L Waxler, Klaas J Wierenga, Matthias T F Wolf, Sik-Nin Wong, Sebastian A Leidel, Gessica Truglio, Peter C Dedon, Annapurna Poduri, Shrikant Mane, Richard P Lifton, Maxime Bouchard, Peter Kannu, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue...
August 14, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28797196/the-improve-guidelines-ischaemia-models-procedural-refinements-of-in-vivo-experiments
#2
Nathalie Percie du Sert, Alessio Alfieri, Stuart M Allan, Hilary Vo Carswell, Graeme A Deuchar, Tracy D Farr, Paul Flecknell, Lindsay Gallagher, Claire L Gibson, Michael J Haley, Malcolm R Macleod, Barry W McColl, Christopher McCabe, Anna Morancho, Lawrence Df Moon, Michael J O'Neill, Isabel Pérez de Puig, Anna Planas, C Ian Ragan, Anna Rosell, Lisa A Roy, Kathryn O Ryder, Alba Simats, Emily S Sena, Brad A Sutherland, Mark D Tricklebank, Rebecca C Trueman, Lucy Whitfield, Raymond Wong, I Mhairi Macrae
Most in vivo models of ischaemic stroke target the middle cerebral artery and a spectrum of stroke severities, from mild to substantial, can be achieved. This review describes opportunities to improve the in vivo modelling of ischaemic stroke and animal welfare. It provides a number of recommendations to minimise the level of severity in the most common rodent models of middle cerebral artery occlusion, while sustaining or improving the scientific outcomes. The recommendations cover basic requirements pre-surgery, selecting the most appropriate anaesthetic and analgesic regimen, as well as intraoperative and post-operative care...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28766741/the-role-of-social-license-in-conservation
#3
Dave Kendal, Rebecca M Ford
"Threatened species programs need a social license to justify public funding" (Zander et al. 2014). Or do they? There is growing acceptance within conservation science that community support for and engagement in ecosystem management programs is likely to lead to better conservation outcomes (Marvier & Wong 2012). However, the language used to characterize relations between conservation and the community is important, and use of the term social license may not always be a useful way to describe this relationship...
August 2, 2017: Conservation Biology: the Journal of the Society for Conservation Biology
https://www.readbyqxmd.com/read/28758370/validity-of-the-remote-food-photography-method-against-doubly-labeled-water-among-minority-preschoolers
#4
Theresa Nicklas, Rabab Saab, Noemi G Islam, William Wong, Nancy Butte, Rebecca Schulin, Yan Liu, John W Apolzan, Candice A Myers, Corby K Martin
OBJECTIVE: The aim of this study was to determine the validity of energy intake (EI) estimations made using the remote food photography method (RFPM) compared to the doubly labeled water (DLW) method in minority preschool children in a free-living environment. METHODS: Seven days of food intake and spot urine samples excluding first void collections for DLW analysis were obtained on thirty-nine 3- to 5-year-old Hispanic and African American children. Using an iPhone, caregivers captured before and after pictures of each child's intake, pictures were wirelessly transmitted to trained raters who estimated portion size using existing visual estimation procedures, and energy and macronutrients were calculated...
July 31, 2017: Obesity
https://www.readbyqxmd.com/read/28737185/rationalising-the-effects-of-ionic-liquids-on-a-nucleophilic-aromatic-substitution-reaction
#5
Rebecca R Hawker, Michaela J Wong, Ronald S Haines, Jason B Harper
The nucleophilic aromatic substitution reaction between 1-fluoro-2,4-dinitrobenzene and ethanol was examined in a series of ionic liquids across a range of mole fractions. Temperature-dependent kinetic analyses were undertaken to determine the activation parameters for this reaction at the highest mole fraction. As the mole fraction of ionic liquid was increased, the rate constant of the reaction also increased, however the microscopic origin of the rate enhancement was shown to be different between different ionic liquids and also between different solvent compositions...
August 2, 2017: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/28720788/preservative-solution-that-stabilizes-erythrocyte-morphology-and-leukocyte-viability-under-ambient-conditions
#6
Rebecca D Sandlin, Keith H K Wong, Leo Boneschansker, Thomas R Carey, Kathleen L Miller, Gregory Rose, Daniel A Haber, Shyamala Maheswaran, Daniel Irimia, Shannon L Stott, Mehmet Toner
The deterioration of whole blood ex vivo represents a logistical hurdle in clinical and research settings. Here, a cocktail preservative is described that stabilizes leukocyte viability and erythrocyte morphology in whole blood under ambient storage. Neutrophil biostabilization was explored using a sophisticated microfluidic assay to examine the effectiveness of caspase inhibition to stabilize purified neutrophils. Following 72 h ambient storage, neutrophils remained fully functional to migrate towards chemical cues and maintained their ability to undergo NETosis after stimulation...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28715603/an-exploratory-study-on-exemplary-practice-of-nurse-consultants
#7
Frances Kam Yuet Wong, Ada Tak Yin Lau, Rebecca Ng, Elaine Wing Yee Wong, So Man Wong, Eva Ching Yee Kan, Eva Liu, Denise Bryant-Lukosius
PURPOSE: To examine the exemplary practice of nurse consultants (NCs) and derive a model to illustrate the highest level of advanced nursing practice. DESIGN: A descriptive study was conducted to examine the practice and outcomes of seven NC roles in varied clinical specialties in Hong Kong. Exemplary practice was examined in relation to competencies for advanced practice nursing in Hong Kong and the United Kingdom. METHODS: Data about NC characteristics and their practices were collected using a structured questionnaire and analyzed using descriptive statistics...
July 17, 2017: Journal of Nursing Scholarship
https://www.readbyqxmd.com/read/28715540/predictors-of-hand-foot-syndrome-and-pyridoxine-for-prevention-of-capecitabine-induced-hand-foot-syndrome-a-randomized-clinical-trial
#8
Yoon-Sim Yap, Li-Lian Kwok, Nicholas Syn, Wen Yee Chay, John Whay Kuang Chia, Chee Kian Tham, Nan Soon Wong, Soo Kien Lo, Rebecca Alexandra Dent, Sili Tan, Zuan Yu Mok, King Xin Koh, Han Chong Toh, Wen Hsin Koo, Marie Loh, Raymond Chee Hui Ng, Su Pin Choo, Richie Chuan Teck Soong
Importance: Hand-foot syndrome (HFS) is a common adverse effect of capecitabine treatment. Objective: To compare the incidence and time to onset of grade 2 or greater HFS in patients receiving pyridoxine vs placebo and to identify biomarkers predictive of HFS. Design, Setting, and Participants: This single-center, randomized double-blind, placebo-controlled phase 3 trial conducted at National Cancer Centre Singapore assessed whether oral pyridoxine could prevent the onset of grade 2 or higher HFS in 210 patients scheduled to receive single-agent capecitabine chemotherapy for breast, colorectal, and other cancers...
July 13, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28688853/gpr37l1-modulates-seizure-susceptibility-evidence-from-mouse-studies-and-analyses-of-a-human-gpr37l1-variant
#9
Michelle M Giddens, Jennifer C Wong, Jason P Schroeder, Emily G Farrow, Brilee M Smith, Sharon Owino, Sarah E Soden, Rebecca C Meyer, Carol Saunders, J B LePichon, David Weinshenker, Andrew Escayg, Randy A Hall
Progressive myoclonus epilepsies (PMEs) are disorders characterized by myoclonic and generalized seizures with progressive neurological deterioration. While several genetic causes for PMEs have been identified, the underlying causes remain unknown for a substantial portion of cases. Here we describe several affected individuals from a large, consanguineous family presenting with a novel PME in which symptoms begin in adolescence and result in death by early adulthood. Whole exome analyses revealed that affected individuals have a homozygous variant in GPR37L1 (c...
July 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28687677/a-community-based-motivational-personalised-lifestyle-intervention-to-reduce-bmi-in-obese-adolescents-results-from-the-healthy-eating-and-lifestyle-programme-help-randomised-controlled-trial
#10
Deborah Christie, Lee Duncan Hudson, Sanjay Kinra, Ian Chi Kei Wong, Irwin Nazareth, Tim J Cole, Ulla Sovio, John Gregson, Anthony S Kessel, Anne Mathiot, Stephen Morris, Monica Panca, Silvia Costa, Rebecca Holt, Russell M Viner
OBJECTIVE: Approximately 7% of children and young people aged 5-15 years in the UK have obesity at a level likely to be associated with comorbidities. The majority of multicomponent lifestyle programmes have limited applicability and generalisability for British adolescents.The Healthy Eating and Lifestyle Programme (HELP) was a specific adolescent-focused intervention, designed for obese 12 to 18-year-olds seeking help to manage their weight. Participants were randomised to the 12-session HELP intervention or standard care...
August 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28682331/three-dimensional-integration-of-nanotechnologies-for-computing-and-data-storage-on-a-single-chip
#11
Max M Shulaker, Gage Hills, Rebecca S Park, Roger T Howe, Krishna Saraswat, H-S Philip Wong, Subhasish Mitra
The computing demands of future data-intensive applications will greatly exceed the capabilities of current electronics, and are unlikely to be met by isolated improvements in transistors, data storage technologies or integrated circuit architectures alone. Instead, transformative nanosystems, which use new nanotechnologies to simultaneously realize improved devices and new integrated circuit architectures, are required. Here we present a prototype of such a transformative nanosystem. It consists of more than one million resistive random-access memory cells and more than two million carbon-nanotube field-effect transistors-promising new nanotechnologies for use in energy-efficient digital logic circuits and for dense data storage-fabricated on vertically stacked layers in a single chip...
July 5, 2017: Nature
https://www.readbyqxmd.com/read/28654140/epidermal-growth-factor-receptor-egfr-inhibitors-for-metastatic-colorectal-cancer
#12
REVIEW
David Lok Hang Chan, Eva Segelov, Rachel Sh Wong, Annabel Smith, Rebecca A Herbertson, Bob T Li, Niall Tebbutt, Timothy Price, Nick Pavlakis
BACKGROUND: Epidermal growth factor receptor (EGFR) inhibitors prevent cell growth and have shown benefit in the treatment of metastatic colorectal cancer, whether used as single agents or in combination with chemotherapy. Clear benefit has been shown in trials of EGFR monoclonal antibodies (EGFR MAb) but not EGFR tyrosine kinase inhibitors (EGFR TKI). However, there is ongoing debate as to which patient populations gain maximum benefit from EGFR inhibition and where they should be used in the metastatic colorectal cancer treatment paradigm to maximise efficacy and minimise toxicity...
June 27, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28649725/high-throughput-screening-identifies-novel-cell-cycle-arresting-small-molecule-enhancers-of-transient-protein-expression
#13
Hermann-Josef Meyer, Rebecca Turincio, Shirley Ng, Juan Li, Blair Wilson, Pamela Chan, Mark Zak, Dorothea Reilly, Maureen H Beresini, Athena W Wong
Transient gene expression in mammalian cells is an efficient process for producing recombinant proteins for various research applications to support large molecule therapeutics development. For the first time, we report a high throughput small molecule (SM) screen to identify novel compounds that increase antibody titers after polyethylenimine (PEI) transient transfection of a HEK293 cell line. After screening 31,413 SMs in a 50 μL scaled-down process, we validated 164 SMs to improve yields by up to 2-fold...
June 26, 2017: Biotechnology Progress
https://www.readbyqxmd.com/read/28645976/a-combined-randomised-and-observational-study-of-surgery-for-fractures-in-the-distal-radius-in-the-elderly-crossfire-a-study-protocol
#14
Ian A Harris, Justine M Naylor, Andrew Lawson, Rachelle Buchbinder, Rebecca Ivers, Zsolt Balogh, Paul Smith, Rajat Mittal, Wei Xuan, Kirsten Howard, Arezoo Vafa, Piers Yates, Bertram Rieger, Geoff Smith, Ilia Elkinson, Woosung Kim, Mellick Chehade, Jai Sungaran, Kim Latendresse, James Wong, Sameer Viswanathan, Martin Richardson, Kush Shrestha, Herwig Drobetz, Phong Tran, Jeremy Loveridge, Richard Page, Raphael Hau, Roger Bingham, Jonathan Mulford, Ian Incoll
Fractures of the distal radius are common and occur in all age groups. The incidence is high in older populations due to osteoporosis and increased falls risk. Considerable practice variation exists in the management of distal radius fractures in older patients ranging from closed reduction with cast immobilisation to open reduction with plate fixation. Plating is currently the most common surgical treatment. While there is evidence showing no significant advantage for some forms of surgical fixation over conservative treatment, and no difference between different surgical techniques, there is a lack of evidence comparing two of the most common treatments used: closed reduction and casting versus plating...
June 23, 2017: BMJ Open
https://www.readbyqxmd.com/read/28640244/systematic-design-and-comparison-of-expanded-carrier-screening-panels
#15
Kyle A Beauchamp, Dale Muzzey, Kenny K Wong, Gregory J Hogan, Kambiz Karimi, Sophie I Candille, Nikita Mehta, Rebecca Mar-Heyming, K Eerik Kaseniit, H Peter Kang, Eric A Evans, James D Goldberg, Gabriel A Lazarin, Imran S Haque
PurposeThe recent growth in pan-ethnic expanded carrier screening (ECS) has raised questions about how such panels might be designed and evaluated systematically. Design principles for ECS panels might improve clinical detection of at-risk couples and facilitate objective discussions of panel choice.MethodsGuided by medical-society statements, we propose a method for the design of ECS panels that aims to maximize the aggregate and per-disease sensitivity and specificity across a range of Mendelian disorders considered serious by a systematic classification scheme...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28598251/molecular-characterization-of-methicillin-resistant-staphylococcus-aureus-isolated-from-australian-animals-and-veterinarians
#16
Kate A Worthing, Sam Abraham, Stanley Pang, Geoffrey W Coombs, Sugiyono Saputra, David Jordan, Hui S Wong, Rebecca J Abraham, Darren J Trott, Jacqueline M Norris
This study aimed to determine the frequency and molecular epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) from Australian animals and whether animal-derived MRSA was similar to that from Australian veterinarians. A total of 1,080 clinical coagulase positive Staphylococcus isolates from Australian animals were collected during 2013. Sixteen (4%) of 360 S. aureus isolates were MRSA. Most MRSA came from companion animals, while none came from livestock. MRSA isolates were characterized using whole genome sequencing...
June 9, 2017: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/28560329/fast-label-free-multilayered-histology-like-imaging-of-human-breast-cancer-by-photoacoustic-microscopy
#17
Terence T W Wong, Ruiying Zhang, Pengfei Hai, Chi Zhang, Miguel A Pleitez, Rebecca L Aft, Deborah V Novack, Lihong V Wang
The goal of breast-conserving surgery is to completely remove all of the cancer. Currently, no intraoperative tools can microscopically analyze the entire lumpectomy specimen, which results in 20 to 60% of patients undergoing second surgeries to achieve clear margins. To address this critical need, we have laid the foundation for the development of a device that could allow accurate intraoperative margin assessment. We demonstrate that by taking advantage of the intrinsic optical contrast of breast tissue, photoacoustic microscopy (PAM) can achieve multilayered histology-like imaging of the tissue surface...
May 2017: Science Advances
https://www.readbyqxmd.com/read/28550518/racial-ethnic-differences-in-perception-of-need-for-mental-health-treatment-in-a-us-national-sample
#18
Joshua Breslau, Matthew Cefalu, Eunice C Wong, M Audrey Burnam, Gerald P Hunter, Karen R Florez, Rebecca L Collins
PURPOSE: To resolve contradictory evidence regarding racial/ethnic differences in perceived need for mental health treatment in the USA using a large and diverse epidemiologic sample. METHODS: Samples from 6 years of a repeated cross-sectional survey of the US civilian non-institutionalized population were combined (N = 232,723). Perceived need was compared across three non-Hispanic groups (whites, blacks and Asian-Americans) and two Hispanic groups (English interviewees and Spanish interviewees)...
August 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28533558/investigating-the-causal-effect-of-smoking-on-hay-fever-and-asthma-a-mendelian-randomization-meta-analysis-in-the-carta-consortium
#19
Tea Skaaby, Amy E Taylor, Rikke K Jacobsen, Lavinia Paternoster, Betina H Thuesen, Tarunveer S Ahluwalia, Sofus C Larsen, Ang Zhou, Andrew Wong, Maiken E Gabrielsen, Johan H Bjørngaard, Claudia Flexeder, Satu Männistö, Rebecca Hardy, Diana Kuh, Sarah J Barry, Line Tang Møllehave, Charlotte Cerqueira, Nele Friedrich, Tobias N Bonten, Raymond Noordam, Dennis O Mook-Kanamori, Christian Taube, Leon E Jessen, Alex McConnachie, Naveed Sattar, Mark N Upton, Charles McSharry, Klaus Bønnelykke, Hans Bisgaard, Holger Schulz, Konstantin Strauch, Thomas Meitinger, Annette Peters, Harald Grallert, Ellen A Nohr, Mika Kivimaki, Meena Kumari, Uwe Völker, Matthias Nauck, Henry Völzke, Chris Power, Elina Hyppönen, Torben Hansen, Torben Jørgensen, Oluf Pedersen, Veikko Salomaa, Niels Grarup, Arnulf Langhammer, Pål R Romundstad, Frank Skorpen, Jaakko Kaprio, Marcus R Munafò, Allan Linneberg
Observational studies on smoking and risk of hay fever and asthma have shown inconsistent results. However, observational studies may be biased by confounding and reverse causation. Mendelian randomization uses genetic variants as markers of exposures to examine causal effects. We examined the causal effect of smoking on hay fever and asthma by using the smoking-associated single nucleotide polymorphism (SNP) rs16969968/rs1051730. We included 231,020 participants from 22 population-based studies. Observational analyses showed that current vs never smokers had lower risk of hay fever (odds ratio (OR) = 0·68, 95% confidence interval (CI): 0·61, 0·76; P < 0·001) and allergic sensitization (OR = 0·74, 95% CI: 0·64, 0·86; P < 0·001), but similar asthma risk (OR = 1·00, 95% CI: 0·91, 1·09; P = 0·967)...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28531315/the-interaction-between-cytosine-methylation-and-processes-of-dna-replication-and-repair-shape-the-mutational-landscape-of-cancer-genomes
#20
Rebecca C Poulos, Jake Olivier, Jason W H Wong
Methylated cytosines (5mCs) are frequently mutated in the genome. However, no studies have yet comprehensively analysed mutation-methylation associations across cancer types. Here we analyse 916 cancer genomes, together with tissue type-specific methylation and replication timing data. We describe a strong mutation-methylation association across colorectal cancer subtypes, most interestingly in samples with microsatellite instability (MSI) or Polymerase epsilon (POLE) exonuclease domain mutations. By analysing genomic regions with differential mismatch repair (MMR) efficiency, we suggest a possible role for MMR in the correction of 5mC deamination events, potentially accounting for the high rate of 5mC mutation accumulation in MSI tumours...
May 22, 2017: Nucleic Acids Research
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