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https://www.readbyqxmd.com/read/29148569/exome-sequence-analysis-and-follow-up-genotyping-implicates-rare-ulk1-variants-to-be-involved-in-susceptibility-to-schizophrenia
#1
Mariam M Al Eissa, Alessia Fiorentino, Sally I Sharp, Niamh L O'Brien, Kate Wolfe, Giovanni Giaroli, David Curtis, Nicholas J Bass, Andrew McQuillin
Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of this study was to identify likely aetiological variants in subjects affected with SCZ. Exome sequence data from a SCZ cas-control sample from Sweden was analysed for likely aetiological variants using a weighted burden test. Suggestive evidence implicated the UNC-51-like kinase (ULK1) gene, and it was observed that four rare variants that were more common in the Swedish SCZ cases were also more common in UK10K SCZ cases, as compared to obesity cases...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29143692/non-pharmacological-interventions-for-lewy-body-dementia-a-systematic-review
#2
Michael H Connors, Lena Quinto, Ian McKeith, Henry Brodaty, Louise Allan, Claire Bamford, Alan Thomas, John-Paul Taylor, John T O'Brien
Lewy body dementia (consisting of dementia with Lewy bodies and Parkinson's disease dementia) is a common neurodegenerative disease characterised by visual hallucinations, fluctuating attention, motor disturbances, falls, and sensitivity to antipsychotics. This combination of features presents challenges for pharmacological management. Given this, we sought to review evidence for non-pharmacological interventions with patients with Lewy body dementia and their carers. Bibliographic databases were searched using a wide range of search terms and no restrictions were placed on study design, language, or clinical setting...
November 16, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/29141124/the-effects-of-valbenazine-in-participants-with-tardive-dyskinesia-results-of-the-1-year-kinect-3-extension-study
#3
Stewart A Factor, Gary Remington, Cynthia L Comella, Christoph U Correll, Joshua Burke, Roland Jimenez, Grace S Liang, Christopher F O'Brien
BACKGROUND: Valbenazine, a highly selective vesicular monoamine transporter 2 inhibitor, is approved for the treatment of tardive dyskinesia. This is the first report of long-term effects in adults with tardive dyskinesia. METHODS: Participants with a DSM-IV diagnosis of schizophrenia, schizoaffective disorder, or a mood disorder who completed the 6-week, double-blind, placebo-controlled period of KINECT 3 were eligible to enter the 42-week valbenazine extension (VE) period and subsequent 4-week washout period...
November 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29140441/the-complete-phylogeny-of-pangolins-scaling-up-resources-for-the-molecular-tracing-of-the-most-trafficked-mammals-on-earth
#4
Philippe Gaubert, Agostinho Antunes, Hao Meng, Lin Miao, Stéphane Peigné, Fabienne Justy, Flobert Njiokou, Sylvain Dufour, Emmanuel Danquah, Jayanthi Alahakoon, Erik Verheyen, William T Stanley, Stephen J O'Brien, Warren E Johnson, Shu-Jin Luo
Pangolins, considered the most-trafficked mammals on Earth, are rapidly heading to extinction. Eight extant species of these African and Asian scale-bodied anteaters are commonly recognized, but their evolutionary relationships remain largely unexplored. Here we present the most comprehensive phylogenetic assessment of pangolins, based on genetic variation of complete mitogenomes and nine nuclear genes. We confirm deep divergence among Asian and African pangolins occurring not later than the Oligocene-Miocene boundary ca...
November 13, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/29139034/vessel-centerline-reconstruction-from-non-isocentric-and-non-orthogonal-paired-monoplane-angiographic-images
#5
Mie Kunio, Caroline C O'Brien, Augusto C Lopes, Lynn Bailey, Pedro A Lemos, Guillermo J Tearney, Elazer R Edelman
PURPOSE: Three-dimensional reconstruction of a vessel centerline from paired planar coronary angiographic images is critical to reconstruct the complex three-dimensional structure of the coronary artery lumen and the relative positioning of implanted devices. In this study, a new vessel centerline reconstruction method that can utilize non-isocentric and non-orthogonal pairs of angiographic images was developed and tested. METHODS: Our new method was developed in in vitro phantom models of bifurcated coronary artery with and without stent, and then tested in in vivo swine models (twelve coronary arteries)...
November 14, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/29138428/structural-disorder-and-induced-folding-within-two-cereal-aba-stress-and-ripening-asr-proteins
#6
Karama Hamdi, Edoardo Salladini, Darragh P O'Brien, Sébastien Brier, Alexandre Chenal, Ines Yacoubi, Sonia Longhi
Abscisic acid (ABA), stress and ripening (ASR) proteins are plant-specific proteins involved in plant response to multiple abiotic stresses. We previously isolated the ASR genes and cDNAs from durum wheat (TtASR1) and barley (HvASR1). Here, we show that HvASR1 and TtASR1 are consistently predicted to be disordered and further confirm this experimentally. Addition of glycerol, which mimics dehydration, triggers a gain of structure in both proteins. Limited proteolysis showed that they are highly sensitive to protease degradation...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138292/impact-of-regionalization-of-st-elevation-myocardial-infarction-care-on-treatment-times-and-outcomes-for-emergency-medical-services-transported-patients-presenting-to-hospitals-with-percutaneous-coronary-intervention-mission-lifeline-accelerator-2
#7
James G Jollis, Hussein R Al-Khalidi, Mayme L Roettig, Peter B Berger, Claire C Corbett, Shannon Doerfler, Christopher B Fordyce, Timothy D Henry, Lori Hollowell, Zainab Magdon-Ismail, Ajar Kochar, James J McCarthy, Lisa Monk, Peter K O'Brien, Thomas D Rea, Jay Shavadia, Jacqueline Tamis-Holland, B Hadley Wilson, Khaled M Ziada, Christopher B Granger
Background: Regional variations in reperfusion times and mortality in patients with ST-segment elevation myocardial infarction (STEMI) are influenced by differences in coordinating care between emergency medical services (EMS) and hospitals. Building on the Accelerator-1 Project, we hypothesized that time to reperfusion could be further reduced with enhanced regional efforts. Methods: Between April 2015 and March 2017, we worked with 12 metropolitan regions across the United States with 132 PCI-capable hospitals and 946 EMS agencies...
November 14, 2017: Circulation
https://www.readbyqxmd.com/read/29134434/fluoroscopy-free-af-ablation-using-transesophageal-echocardiography-and-electroanatomical-mapping-technology
#8
Benjamin O'Brien, Damian C Balmforth, Ross J Hunter, Richard J Schilling
PURPOSE: Guidelines recommend that radiation exposure during AF catheter ablation procedures should be 'as low as reasonably achievable' (ALARA), particularly since many patients may have multiple procedures. Consequently, avoiding radiation exposure altogether must, if safe to do so, be the ultimate goal. The primary objective was to determine the feasibility and efficacy of fluoroscopy-free AF ablation compared to the fluoroscopy-assisted procedure. METHODS: Patients underwent AF ablation using commercially available technology with no routine pre-procedural imaging...
November 14, 2017: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/29133069/relaxin-2-connecting-peptide-pro-rlx2-levels-in-second-trimester-serum-samples-to-predict-preeclampsia
#9
Miriam Rehfeldt, Elizabeth Eklund, Joachim Struck, Andrea Sparwasser, Barbara O'Brien, Glenn E Palomaki, Josef Köhrle, Andreas Bergmann, Geralyn Lambert-Messerlian
OBJECTIVES: Preeclampsia is a serious complication of pregnancy, threatening fetal and maternal health. The aim of our study is to examine the association between preeclampsia and the connecting peptide of the pregnancy hormone relaxin (pro-RLX2) as a potential new biochemical marker. STUDY DESIGN: This is a nested case/control study derived from the cohort of pregnancies delivering at Women & Infants Hospital. Cases were identified at a clinic or by hospital codes, and individually confirmed by record review...
November 7, 2017: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29133034/cpap-treatment-for-children-with-pneumonia-in-low-resource-settings
#10
Eric D McCollum, Andrew G Smith, Michelle Eckerle, Tisungane Mvalo, Katherine L O'Brien, Abdullah H Baqui
No abstract text is available yet for this article.
November 10, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/29132322/stillbirth-is-associated-with-perceived-alterations-in-fetal-activity-findings-from-an-international-case-control-study
#11
Alexander E P Heazell, Jane Warland, Tomasina Stacey, Christin Coomarasamy, Jayne Budd, Edwin A Mitchell, Louise M O'Brien
BACKGROUND: Stillbirth after 28 weeks gestation affects between 1.3-8.8 per 1000 births in high-income countries. The majority of stillbirths in this setting occur in women without established risk factors. Identification of risk factors which could be identified and managed in pregnancy is a priority in stillbirth prevention research. This study aimed to evaluate women's experiences of fetal movements and how these relate to stillbirth. METHODS: An international internet-based case-control study of women who had a stillbirth ≥28 weeks' gestation within 30 days prior to completing the survey (n = 153) and women with an ongoing pregnancy or a live born child (n = 480)...
November 13, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29132178/patterns-of-systemic-and-cervicovaginal-fluid-inflammatory-cytokines-throughout-pregnancy
#12
Kristin B Ashford, Niraj Chavan, Jeffrey L Ebersole, Amanda T Wiggins, Savita Sharma, Andrea McCubbin, Janine Barnett, John O'Brien
No abstract text is available yet for this article.
November 13, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/29132146/identification-of-unique-neoantigen-qualities-in-long-term-survivors-of-pancreatic-cancer
#13
Vinod P Balachandran, Marta Łuksza, Julia N Zhao, Vladimir Makarov, John Alec Moral, Romain Remark, Brian Herbst, Gokce Askan, Umesh Bhanot, Yasin Senbabaoglu, Daniel K Wells, Charles Ian Ormsby Cary, Olivera Grbovic-Huezo, Marc Attiyeh, Benjamin Medina, Jennifer Zhang, Jennifer Loo, Joseph Saglimbeni, Mohsen Abu-Akeel, Roberta Zappasodi, Nadeem Riaz, Martin Smoragiewicz, Z Larkin Kelley, Olca Basturk, Mithat Gönen, Arnold J Levine, Peter J Allen, Douglas T Fearon, Miriam Merad, Sacha Gnjatic, Christine A Iacobuzio-Donahue, Jedd D Wolchok, Ronald P DeMatteo, Timothy A Chan, Benjamin D Greenbaum, Taha Merghoub, Steven D Leach
Pancreatic ductal adenocarcinoma is a lethal cancer with fewer than 7% of patients surviving past 5 years. T-cell immunity has been linked to the exceptional outcome of the few long-term survivors, yet the relevant antigens remain unknown. Here we use genetic, immunohistochemical and transcriptional immunoprofiling, computational biophysics, and functional assays to identify T-cell antigens in long-term survivors of pancreatic cancer. Using whole-exome sequencing and in silico neoantigen prediction, we found that tumours with both the highest neoantigen number and the most abundant CD8(+) T-cell infiltrates, but neither alone, stratified patients with the longest survival...
November 8, 2017: Nature
https://www.readbyqxmd.com/read/29131841/determining-the-effectiveness-of-a-video-based-contact-intervention-in-improving-attitudes-of-penang-primary-care-nurses-towards-people-with-mental-illness
#14
Yin Ping Ng, Abdul Rashid, Finian O'Brien
BACKGROUND: Mental illness-related stigma is common, and is associated with poorer outcomes in people with mental illness. This study evaluated the attitudes of primary care nurses towards people with mental illness and its associated factors; and the effectiveness of a short video-based contact intervention (VBCI) in improving these attitudes using a Malay version of the 15-item Opening Minds Stigma Scale for Healthcare Providers (OMS-HC-15-M). METHODS: A 5-minute VBCI was developed comprising elements of psychoeducation and interviews of people with mental illness and the people they interact with, relating to experience of mental illness and recovery...
2017: PloS One
https://www.readbyqxmd.com/read/29129714/non-invasive-diagnosis-of-pancreatic-cancer-through-detection-of-volatile-organic-compounds-in-urine
#15
Ramesh Arasaradnam, Alfian Wicaksono, Harrison O'Brien, Hemant M Kocher, James A Covington, Tatjana Crnogorac-Jurcevic
No abstract text is available yet for this article.
November 9, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29129441/health-related-quality-of-life-results-for-pembrolizumab-versus-chemotherapy-in-advanced-pd-l1-positive-nsclc-keynote-024-a-multicentre-international-randomised-open-label-phase-3-trial
#16
Julie R Brahmer, Delvys Rodríguez-Abreu, Andrew G Robinson, Rina Hui, Tibor Csőszi, Andrea Fülöp, Maya Gottfried, Nir Peled, Ali Tafreshi, Sinead Cuffe, Mary O'Brien, Suman Rao, Katsuyuki Hotta, Jin Zhang, Gregory M Lubiniecki, Anne C Deitz, Reshma Rangwala, Martin Reck
BACKGROUND: In the phase 3 KEYNOTE-024 trial, treatment with pembrolizumab conferred longer progression-free survival than did platinum-based therapy in patients with treatment-naive, advanced non-small-cell lung cancer (NSCLC) with a programmed cell death-ligand 1 (PD-L1) tumour proportion score of 50% or greater (PD-L1-positive). Here we report the prespecified exploratory endpoint of pembrolizumab versus chemotherapy on patient-reported outcomes (PROs). METHODS: In this multicentre, international, randomised, open-label, phase 3 trial, we recruited patients with treatment-naive, stage IV NSCLC in 102 sites in 16 countries...
November 9, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/29129011/embodiment-and-estrangement-results-from-first-in-human-intelligent-bci-trial
#17
F Gilbert, M Cook, T O'Brien, J Illes
While new generations of implantable brain computer interface (BCI) devices are being developed, evidence in the literature about their impact on the patient experience is lagging. In this article, we address this knowledge gap by analysing data from the first-in-human clinical trial to study patients with implanted BCI advisory devices. We explored perceptions of self-change across six patients who volunteered to be implanted with artificially intelligent BCI devices. We used qualitative methodological tools grounded in phenomenology to conduct in-depth, semi-structured interviews...
November 11, 2017: Science and Engineering Ethics
https://www.readbyqxmd.com/read/29128615/rifm-fragrance-ingredient-safety-assessment-ethyl-2-3-6-trimethylcyclohexyl-carbonate-cas-registry-number-93981-50-1
#18
A M Api, D Belsito, D Botelho, D Browne, M Bruze, G A Burton, J Buschmann, M L Dagli, M Date, W Dekant, C Deodhar, M Francis, A D Fryer, K Joshi, S La Cava, A Lapczynski, D C Liebler, D O'brien, R Parakhia, A Patel, T M Penning, G Ritacco, J Romine, D Salvito, T W Schultz, I G Sipes, Y Thakkar, E H Theophilus, A K Tiethof, Y Tokura, S Tsang, J Wahler
No abstract text is available yet for this article.
November 8, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29128612/rifm-fragrance-ingredient-safety-assessment-oxacyclohexadecane-2-13-dione-cas-registry-number-38223-29-9
#19
A M Api, D Belsito, D Botelho, D Browne, M Bruze, G A Burton, J Buschmann, M L Dagli, M Date, W Dekant, C Deodhar, M Francis, A D Fryer, K Joshi, S La Cava, A Lapczynski, D C Liebler, D O'Brien, R Parakhia, A Patel, T M Penning, G Ritacco, J Romine, D Salvito, T W Schultz, I G Sipes, Y Thakkar, E H Theophilus, A K Tiethof, Y Tokura, S Tsang, J Wahler
No abstract text is available yet for this article.
November 8, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29128347/routine-use-of-pico-dressings-may-reduce-overall-groin-wound-complication-rates-following-peripheral-vascular-surgery
#20
Christina A Fleming, Mariya Kuteva, Karen O'Hanlon, Gavin O'Brien, Gerald McGreal
BACKGROUND: Approximately 19% of morbidity in peripheral vascular surgery is attributable to wound complications, which can result in delayed healing, but also arterial or graft infection leading to limb loss and even mortality in extreme cases. AIM: To determine whether groin wound complications were reduced following the routine introduction of PICO negative pressure wound therapy dressings (Smith & Nephew, Hull, England) in patients who had peripheral vascular surgery...
November 8, 2017: Journal of Hospital Infection
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