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https://www.readbyqxmd.com/read/28226506/properties-of-the-motor-unit-action-potential-shape-in-proximal-and-distal-muscles-of-the-upper-limb-in-healthy-and-post-stroke-individuals
#1
Laura Miller McPherson, Francesco Negro, Chris K Thompson, Laura Sanchez, C J Heckman, Jules Dewald, Dario Farina, Laura Miller McPherson, Francesco Negro, Chris K Thompson, Laura Sanchez, C J Heckman, Jules Dewald, Dario Farina, Chris K Thompson, Laura Miller McPherson, Laura Sanchez, Cj Heckman, Jules Dewald, Dario Farina, Francesco Negro
Spectral analysis of surface electromyograms (sEMG) is often used to estimate central and peripheral characteristics of a motor unit (MU) population, such as average conduction velocity, proportion of muscle fiber types, and pattern of MU recruitment. This estimation is based on the assumption that the sEMG adequately reflects the frequency characteristics of the underlying MU action potentials (MUAP). However, sEMG has limitations in this respect, based on physiological and non-physiological factors that influence its frequency content...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28193779/combination-targeted-therapy-to-disrupt-aberrant-oncogenic-signaling-and-reverse-epigenetic-dysfunction-in-idh2-and-tet2-mutant-acute-myeloid-leukemia
#2
Alan H Shih, Cem Meydan, Kaitlyn Shank, Francine E Garrett-Bakelman, Patrick S Ward, Andrew Intlekofer, Abbas Nazir, Eytan Stein, Kristina Knapp, Jacob Glass, Jeremy Travins, Kim Straley, Camelia Gliser, Chris Mason, Katharine Yen, Craig B Thompson, Ari Melnick, Ross L Levine
Genomic studies in acute myeloid leukemias (AML) have identified mutations which drive altered DNA methylation, including TET2 and IDH2. Here we show that models of AMLs resulting from TET2 or IDH2 mutations combined with FLT3ITD mutations are sensitive to 5-Azacytidine or to the IDH2 inhibitor AG-221, respectively. 5-Azacytidine and AG-221 treatment induced an attenuation of aberrant DNA methylation and transcriptional output, and resulted in a reduction in leukemic blasts consistent with anti-leukemic activity...
February 13, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28193628/management-of-endocrine-disease-neuroendocrine-surveillance-and-management-of-neurosurgical-patients-non-pituitary
#3
Aoife Garrahy, Mark Sherlock, Chris J Thompson
Advances in the management of traumatic brain injury, subarachnoid haemorrhage and intracranial tumours have led to improved survival rates and an increased focus on quality of life of survivors. Endocrine sequelae of the acute brain insult and subsequent neurosurgery, peri-operative fluid administration and/or cranial irradiation are now well described. Unrecognized acute hypopituitarism, particularly ACTH/cortisol deficiency and diabetes insipidus, can be life-threatening. While hypopituitarism may be transient, up to 30% of survivors of TBI have chronic hypopituitarism, which can diminish quality of life and hamper rehabilitation...
February 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28147221/clinical-practice-update-expert-review-on-endoscopic-bariatric-therapies
#4
REVIEW
Barham K Abu Dayyeh, Steven Edmundowicz, Chris C Thompson
No abstract text is available yet for this article.
January 29, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28146470/rare-and-low-frequency-coding-variants-alter-human-adult-height
#5
Eirini Marouli, Mariaelisa Graff, Carolina Medina-Gomez, Ken Sin Lo, Andrew R Wood, Troels R Kjaer, Rebecca S Fine, Yingchang Lu, Claudia Schurmann, Heather M Highland, Sina Rüeger, Gudmar Thorleifsson, Anne E Justice, David Lamparter, Kathleen E Stirrups, Valérie Turcot, Kristin L Young, Thomas W Winkler, Tõnu Esko, Tugce Karaderi, Adam E Locke, Nicholas G D Masca, Maggie C Y Ng, Poorva Mudgal, Manuel A Rivas, Sailaja Vedantam, Anubha Mahajan, Xiuqing Guo, Goncalo Abecasis, Katja K Aben, Linda S Adair, Dewan S Alam, Eva Albrecht, Kristine H Allin, Matthew Allison, Philippe Amouyel, Emil V Appel, Dominique Arveiler, Folkert W Asselbergs, Paul L Auer, Beverley Balkau, Bernhard Banas, Lia E Bang, Marianne Benn, Sven Bergmann, Lawrence F Bielak, Matthias Blüher, Heiner Boeing, Eric Boerwinkle, Carsten A Böger, Lori L Bonnycastle, Jette Bork-Jensen, Michiel L Bots, Erwin P Bottinger, Donald W Bowden, Ivan Brandslund, Gerome Breen, Murray H Brilliant, Linda Broer, Amber A Burt, Adam S Butterworth, David J Carey, Mark J Caulfield, John C Chambers, Daniel I Chasman, Yii-Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, Massimiliano Cocca, Francis S Collins, James P Cook, Janie Corley, Jordi Corominas Galbany, Amanda J Cox, Gabriel Cuellar-Partida, John Danesh, Gail Davies, Paul I W de Bakker, Gert J de Borst, Simon de Denus, Mark C H de Groot, Renée de Mutsert, Ian J Deary, George Dedoussis, Ellen W Demerath, Anneke I den Hollander, Joe G Dennis, Emanuele Di Angelantonio, Fotios Drenos, Mengmeng Du, Alison M Dunning, Douglas F Easton, Tapani Ebeling, Todd L Edwards, Patrick T Ellinor, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, Jessica D Faul, Mary F Feitosa, Shuang Feng, Ele Ferrannini, Marco M Ferrario, Jean Ferrieres, Jose C Florez, Ian Ford, Myriam Fornage, Paul W Franks, Ruth Frikke-Schmidt, Tessel E Galesloot, Wei Gan, Ilaria Gandin, Paolo Gasparini, Vilmantas Giedraitis, Ayush Giri, Giorgia Girotto, Scott D Gordon, Penny Gordon-Larsen, Mathias Gorski, Niels Grarup, Megan L Grove, Vilmundur Gudnason, Stefan Gustafsson, Torben Hansen, Kathleen Mullan Harris, Tamara B Harris, Andrew T Hattersley, Caroline Hayward, Liang He, Iris M Heid, Kauko Heikkilä, Øyvind Helgeland, Jussi Hernesniemi, Alex W Hewitt, Lynne J Hocking, Mette Hollensted, Oddgeir L Holmen, G Kees Hovingh, Joanna M M Howson, Carel B Hoyng, Paul L Huang, Kristian Hveem, M Arfan Ikram, Erik Ingelsson, Anne U Jackson, Jan-Håkan Jansson, Gail P Jarvik, Gorm B Jensen, Min A Jhun, Yucheng Jia, Xuejuan Jiang, Stefan Johansson, Marit E Jørgensen, Torben Jørgensen, Pekka Jousilahti, J Wouter Jukema, Bratati Kahali, René S Kahn, Mika Kähönen, Pia R Kamstrup, Stavroula Kanoni, Jaakko Kaprio, Maria Karaleftheri, Sharon L R Kardia, Fredrik Karpe, Frank Kee, Renske Keeman, Lambertus A Kiemeney, Hidetoshi Kitajima, Kirsten B Kluivers, Thomas Kocher, Pirjo Komulainen, Jukka Kontto, Jaspal S Kooner, Charles Kooperberg, Peter Kovacs, Jennifer Kriebel, Helena Kuivaniemi, Sébastien Küry, Johanna Kuusisto, Martina La Bianca, Markku Laakso, Timo A Lakka, Ethan M Lange, Leslie A Lange, Carl D Langefeld, Claudia Langenberg, Eric B Larson, I-Te Lee, Terho Lehtimäki, Cora E Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Honghuang Lin, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Yeheng Liu, Yongmei Liu, Artitaya Lophatananon, Jian'an Luan, Steven A Lubitz, Leo-Pekka Lyytikäinen, David A Mackey, Pamela A F Madden, Alisa K Manning, Satu Männistö, Gaëlle Marenne, Jonathan Marten, Nicholas G Martin, Angela L Mazul, Karina Meidtner, Andres Metspalu, Paul Mitchell, Karen L Mohlke, Dennis O Mook-Kanamori, Anna Morgan, Andrew D Morris, Andrew P Morris, Martina Müller-Nurasyid, Patricia B Munroe, Mike A Nalls, Matthias Nauck, Christopher P Nelson, Matt Neville, Sune F Nielsen, Kjell Nikus, Pål R Njølstad, Børge G Nordestgaard, Ioanna Ntalla, Jeffrey R O'Connel, Heikki Oksa, Loes M Olde Loohuis, Roel A Ophoff, Katharine R Owen, Chris J Packard, Sandosh Padmanabhan, Colin N A Palmer, Gerard Pasterkamp, Aniruddh P Patel, Alison Pattie, Oluf Pedersen, Peggy L Peissig, Gina M Peloso, Craig E Pennell, Markus Perola, James A Perry, John R B Perry, Thomas N Person, Ailith Pirie, Ozren Polasek, Danielle Posthuma, Olli T Raitakari, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Alex P Reiner, Frida Renström, Paul M Ridker, John D Rioux, Neil Robertson, Antonietta Robino, Olov Rolandsson, Igor Rudan, Katherine S Ruth, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Kevin Sandow, Yadav Sapkota, Naveed Sattar, Marjanka K Schmidt, Pamela J Schreiner, Matthias B Schulze, Robert A Scott, Marcelo P Segura-Lepe, Svati Shah, Xueling Sim, Suthesh Sivapalaratnam, Kerrin S Small, Albert Vernon Smith, Jennifer A Smith, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Valgerdur Steinthorsdottir, Heather M Stringham, Michael Stumvoll, Praveen Surendran, Leen M 't Hart, Katherine E Tansey, Jean-Claude Tardif, Kent D Taylor, Alexander Teumer, Deborah J Thompson, Unnur Thorsteinsdottir, Betina H Thuesen, Anke Tönjes, Gerard Tromp, Stella Trompet, Emmanouil Tsafantakis, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Jonathan P Tyrer, Rudolf Uher, André G Uitterlinden, Sheila Ulivi, Sander W van der Laan, Andries R Van Der Leij, Cornelia M van Duijn, Natasja M van Schoor, Jessica van Setten, Anette Varbo, Tibor V Varga, Rohit Varma, Digna R Velez Edwards, Sita H Vermeulen, Henrik Vestergaard, Veronique Vitart, Thomas F Vogt, Diego Vozzi, Mark Walker, Feijie Wang, Carol A Wang, Shuai Wang, Yiqin Wang, Nicholas J Wareham, Helen R Warren, Jennifer Wessel, Sara M Willems, James G Wilson, Daniel R Witte, Michael O Woods, Ying Wu, Hanieh Yaghootkar, Jie Yao, Pang Yao, Laura M Yerges-Armstrong, Robin Young, Eleftheria Zeggini, Xiaowei Zhan, Weihua Zhang, Jing Hua Zhao, Wei Zhao, Wei Zhao, He Zheng, Wei Zhou, Jerome I Rotter, Michael Boehnke, Sekar Kathiresan, Mark I McCarthy, Cristen J Willer, Kari Stefansson, Ingrid B Borecki, Dajiang J Liu, Kari E North, Nancy L Heard-Costa, Tune H Pers, Cecilia M Lindgren, Claus Oxvig, Zoltán Kutalik, Fernando Rivadeneira, Ruth J F Loos, Timothy M Frayling, Joel N Hirschhorn, Panos Deloukas, Guillaume Lettre
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors...
February 9, 2017: Nature
https://www.readbyqxmd.com/read/28115190/racial-variation-in-the-utility-of-urinary-biomarkers-pca3-and-t2erg-in-a-large-multicenter-study
#6
Padraic G O'Malley, Daniel P Nguyen, Bashir Al Hussein Al Awamlh, Guojiao Wu, Ian M Thompson, Martin Sanda, Mark Rubin, John T Wei, Richard Lee, Paul Christos, Chris Barbieri, Douglas S Scherr
BACKGROUND: It is unknown whether urinary biomarkers for prostate cancer (PCa) have added utility to clinical risk calculators in different racial groups. OBJECTIVE: Examine the added utility to clinical risk calculators for urinary biomarkers in prediction of PCa in African American (AA) and non-AA men. DESIGN: Demographics, Prostate Cancer Prevention Trial (PCPT) risk scores, biomarker data (PCA3 and T2ERG), and biopsy pathology features prospectively collected from 718 men as part of the Early Detection Research Network (EDRN)...
January 20, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28053216/enhanced-antibody-detection-and-diagnosis-of-coccidioidomycosis-with-the-miravista-igg-and-igm-detection-enzyme-immunoassay
#7
Joshua Malo, Eric Holbrook, Tirdad Zangeneh, Chris Strawter, Eyal Oren, Ian Robey, Heidi Erickson, Racquel Chahal, Michelle Durkin, Cindy Thompson, Susan E Hoover, Neil M Ampel, L Joseph Wheat, Kenneth S Knox
BACKGROUND: Coccidioidomycosis is a common cause of community-acquired pneumonia in endemic areas of the southwestern United States. Clinical presentations range from self-limited disease to severe, disseminated disease. As such, early and accurate diagnosis is essential to ensure appropriate treatment and monitoring. Currently available diagnostic testing has variable accuracy, particularly in certain patient populations, and new tests may offer improved accuracy for the diagnosis of coccidioidomycosis...
January 4, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28049849/cd4-t-cell-cytokines-synergize-to-induce-proliferation-of-malignant-and-nonmalignant-innate-intraepithelial-lymphocytes
#8
Yvonne M C Kooy-Winkelaar, Dagmar Bouwer, George M C Janssen, Allan Thompson, Martijn H Brugman, Frederike Schmitz, Arnoud H de Ru, Tom van Gils, Gerd Bouma, Jon J van Rood, Peter A van Veelen, M Luisa Mearin, Chris J Mulder, Frits Koning, Jeroen van Bergen
Refractory celiac disease type II (RCDII) is a severe complication of celiac disease (CD) characterized by the presence of an enlarged clonal population of innate intraepithelial lymphocytes (IELs) lacking classical B-, T-, and natural killer (NK)-cell lineage markers (Lin(-)IELs) in the duodenum. In ∼50% of patients with RCDII, these Lin(-)IELs develop into a lymphoma for which no effective treatment is available. Current evidence indicates that the survival and expansion of these malignant Lin(-)IELs is driven by epithelial cell-derived IL-15...
February 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28024173/prioritising-the-placement-of-riparian-vegetation-to-reduce-flood-risk-and-end-of-catchment-sediment-yields-important-considerations-in-hydrologically-variable-regions
#9
Jacky Croke, Chris Thompson, Kirstie Fryirs
In perennial stream settings, there is abundant literature confirming that riparian vegetation affects flood hydrology by attenuating the flood wave, enhancing deposition and reducing bank erosion. In contrast, relatively little is known about the effectiveness of riparian vegetation during floods in hydrologically-variable regions. The dominant channel form in these settings is often referred to as a 'macrochannel' or compound channel-in-channel which displays multiple inundation surfaces where it is often difficult to identify the active channel bank and bank top...
April 1, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/27977460/perioperative-outcomes-and-management-in-pediatric-complex-cranial-vault-reconstruction-a-multicenter-study-from-the-pediatric-craniofacial-collaborative-group
#10
Paul A Stricker, Susan M Goobie, Franklyn P Cladis, Charles M Haberkern, Petra M Meier, Srijaya K Reddy, Thanh T Nguyen, Lingyu Cai, Marcia Polansky, Peter Szmuk, John Fiadjoe, Codruta Soneru, Ricardo Falcon, Timothy Petersen, Courtney Kowalczyk-Derderian, Nicholas Dalesio, Stefan Budac, Neels Groenewald, Daniel Rubens, Douglas Thompson, Rheana Watts, Katherine Gentry, Iskra Ivanova, Mali Hetmaniuk, Vincent Hsieh, Michael Collins, Karen Wong, Wendy Binstock, Russell Reid, Kim Poteet-Schwartz, Heike Gries, Rebecca Hall, Jeffrey Koh, Carolyn Bannister, Wai Sung, Ranu Jain, Allison Fernandez, Gerald F Tuite, Ernesto Ruas, Oleg Drozhinin, Lisa Tetreault, Bridget Muldowney, Karene Ricketts, Patrick Fernandez, Lisa Sohn, John Hajduk, Brad Taicher, Jessica Burkhart, Allison Wright, Jane Kugler, Lea Barajas-DeLoa, Meera Gangadharan, Veronica Busso, Kayla Stallworth, Susan Staudt, Kristen L Labovsky, Chris D Glover, Henry Huang, Helena Karlberg-Hippard, Samantha Capehart, Cynthia Streckfus, Kim-Phuong T Nguyen, Peter Manyang, Jose Luis Martinez, Jennifer K Hansen, Heather Mitzel Levy, Alyssa Brzenski, Franklin Chiao, Pablo Ingelmo, Razaz Mujallid, Olutoyin A Olutoye, Tariq Syed, Hubert Benzon, Adrian Bosenberg
BACKGROUND: The Pediatric Craniofacial Collaborative Group established the Pediatric Craniofacial Surgery Perioperative Registry to elucidate practices and outcomes in children with craniosynostosis undergoing complex cranial vault reconstruction and inform quality improvement efforts. The aim of this study is to determine perioperative management, outcomes, and complications in children undergoing complex cranial vault reconstruction across North America and to delineate salient features of current practices...
February 2017: Anesthesiology
https://www.readbyqxmd.com/read/27960028/overview-on-research-and-clinical-applications-of-optogenetics
#11
Chris Towne, Kimberly R Thompson
Optogenetics is a method that uses light to control cells in living tissue, typically neurons, that have been modified to express light-sensitive ion channels and pumps. The approach facilitates neuromodulation in brain preparations and freely moving animals with unmatched spatial and temporal resolution. This optogenetics overview describes the vast array of light-sensitive proteins available and the methods used to deliver them to tissue and modulate them with light. How these methods have so far enhanced our knowledge of fundamental neuroscience and psychiatric disease will be discussed as well as how they may contribute to drug discovery in the future...
December 13, 2016: Current Protocols in Pharmacology
https://www.readbyqxmd.com/read/27940953/genetic-invalidation-of-lp-pla2-as-a-therapeutic-target-large-scale-study-of-five-functional-lp-pla2-lowering-alleles
#12
John M Gregson, Daniel F Freitag, Praveen Surendran, Nathan O Stitziel, Rajiv Chowdhury, Stephen Burgess, Stephen Kaptoge, Pei Gao, James R Staley, Peter Willeit, Sune F Nielsen, Muriel Caslake, Stella Trompet, Linda M Polfus, Kari Kuulasmaa, Jukka Kontto, Markus Perola, Stefan Blankenberg, Giovanni Veronesi, Francesco Gianfagna, Satu Männistö, Akinori Kimura, Honghuang Lin, Dermot F Reilly, Mathias Gorski, Vladan Mijatovic, Patricia B Munroe, Georg B Ehret, Alex Thompson, Maria Uria-Nickelsen, Anders Malarstig, Abbas Dehghan, Thomas F Vogt, Taishi Sasaoka, Fumihiko Takeuchi, Norihiro Kato, Yoshiji Yamada, Frank Kee, Martina Müller-Nurasyid, Jean Ferrières, Dominique Arveiler, Philippe Amouyel, Veikko Salomaa, Eric Boerwinkle, Simon G Thompson, Ian Ford, J Wouter Jukema, Naveed Sattar, Chris J Packard, Abdulla Al Shafi Majumder, Dewan S Alam, Panos Deloukas, Heribert Schunkert, Nilesh J Samani, Sekar Kathiresan, Børge G Nordestgaard, Danish Saleheen, Joanna Mm Howson, Emanuele Di Angelantonio, Adam S Butterworth, John Danesh
AIMS: Darapladib, a potent inhibitor of lipoprotein-associated phospholipase A2 (Lp-PLA2), has not reduced risk of cardiovascular disease outcomes in recent randomized trials. We aimed to test whether Lp-PLA2 enzyme activity is causally relevant to coronary heart disease. METHODS: In 72,657 patients with coronary heart disease and 110,218 controls in 23 epidemiological studies, we genotyped five functional variants: four rare loss-of-function mutations (c.109+2T > C (rs142974898), Arg82His (rs144983904), Val279Phe (rs76863441), Gln287Ter (rs140020965)) and one common modest-impact variant (Val379Ala (rs1051931)) in PLA2G7, the gene encoding Lp-PLA2...
December 11, 2016: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/27934670/assessment-of-diagnosed-temporomandibular-disorders-and-orofacial-pain-conditions-by-predoctoral-dental-students-a-pilot-study
#13
Shawn S Adibi, Krishna Kumar Kookal, Nichole M Fishbeck, Chris R Thompson, Muhammad F Walji
Temporomandibular disorders and orofacial pain (TMD/OFP) conditions are challenging to diagnose for predoctoral dental students due to the multifactorial etiology, complexity, and controversial issues surrounding these conditions. The aim of this study was to determine if patients in the clinic of one U.S. dental school reported existing signs and symptoms of TMD/OFP, whether the dental students diagnosed the condition based on the reported signs and symptoms, and if the condition was then treated. The study was based on a retrospective analysis of electronic health record data over a three-year period...
December 2016: Journal of Dental Education
https://www.readbyqxmd.com/read/27899157/disorders-of-sex-development-insights-from-targeted-gene-sequencing-of-a-large-international-patient-cohort
#14
Stefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke Lambeth, Aurore Bouty, Ingrid M Knarston, Tiong Yang Tan, Fergus Cameron, George Werther, John Hutson, Michele O'Connell, Sonia R Grover, Yves Heloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew F Hunter, Shubha Srinivasan, Angela Titmuss, Charles F Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary M Leong, Makato Ono, Antony R Lafferty, Tony Huynh, Uma Visser, Catherine S Choong, Fiona McKenzie, Nicholas Pachter, Elizabeth M Thompson, Jennifer Couper, Anne Baxendale, Jozef Gecz, Benjamin J Wheeler, Craig Jefferies, Karen MacKenzie, Paul Hofman, Philippa Carter, Richard I King, Csilla Krausz, Conny M A van Ravenswaaij-Arts, Leendert Looijenga, Sten Drop, Stefan Riedl, Martine Cools, Angelika Dawson, Achmad Zulfa Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Chí Dũng, Irum Atta, Jamal Raza, Nguyen Thi Diem Chi, Tran Kiem Hao, Vincent Harley, Peter Koopman, Garry Warne, Sultana Faradz, Alicia Oshlack, Katie L Ayers, Andrew H Sinclair
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously. RESULTS: We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD)...
November 29, 2016: Genome Biology
https://www.readbyqxmd.com/read/27898680/a-core-outcome-set-for-the-benefits-and-adverse-events-of-bariatric-and-metabolic-surgery-the-bariact-project
#15
Karen D Coulman, James Hopkins, Sara T Brookes, Katy Chalmers, Barry Main, Amanda Owen-Smith, Robert C Andrews, James Byrne, Jenny L Donovan, Graziella Mazza, Barnaby C Reeves, Chris A Rogers, Janice L Thompson, Richard Welbourn, Sarah Wordsworth, Jane M Blazeby
BACKGROUND: Bariatric and metabolic surgery is used as a treatment for patients with severe and complex obesity. However, there is a need to improve outcome selection and reporting in bariatric surgery trials. A Core Outcome Set (COS), an agreed minimum set of outcomes reported in all studies of a specific condition, may achieve this. Here, we present the development of a COS for BARIAtric and metabolic surgery Clinical Trials-the BARIACT Study. METHODS AND FINDINGS: Outcomes identified from systematic reviews and patient interviews informed a questionnaire survey...
November 2016: PLoS Medicine
https://www.readbyqxmd.com/read/27829101/clinical-features-associated-with-individuals-at-higher-risk-of-melanoma-a-population-based-study
#16
Caroline G Watts, Christine Madronio, Rachael L Morton, Chris Goumas, Bruce K Armstrong, Austin Curtin, Scott W Menzies, Graham J Mann, John F Thompson, Anne E Cust
Importance: The identification of a subgroup at higher risk of melanoma may assist in early diagnosis. Objective: To characterize melanoma patients and the clinical features associated with their melanomas according to patient risk factors: many nevi, history of previous melanoma, and family history of melanoma, to assist with improving the identification and treatment of a higher-risk subgroup. Design, Setting, and Participants: The Melanoma Patterns of Care study was a population-based observational study of physicians' reported treatment of 2727 patients diagnosed with an in situ or invasive primary melanoma over a 12-month period from October 2006 to 2007 conducted in New South Wales...
January 1, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/27775769/association-between-changes-in-cms-reimbursement-policy-and-drug-labels-for-erythrocyte-stimulating-agents-with-outcomes-for-older-patients-undergoing-hemodialysis-covered-by-fee-for-service-medicare
#17
Cunlin Wang, Robert Kane, Mark Levenson, Jeffrey Kelman, Michael Wernecke, Joo-Yeon Lee, Steven Kozlowski, Carmen Dekmezian, Zhiwei Zhang, Aliza Thompson, Kimberly Smith, Yu-Te Wu, Yuqin Wei, Yoganand Chillarige, Qin Ryan, Chris Worrall, Thomas E MaCurdy, David J Graham
Importance: In 2011, the US Centers for Medicare & Medicaid Services (CMS) changed its reimbursement policy for hemodialysis to a bundled comprehensive payment system that included the cost of erythrocyte-stimulating agents (ESAs). Also in 2011, the US Food and Drug Administration revised the drug label for ESAs, recommending more conservative dosing in patients with chronic kidney disease. In response to concerns that these measures could have adverse effects on patient care and outcomes, the CMS and the FDA initiated a collaboration to assess the effect...
December 1, 2016: JAMA Internal Medicine
https://www.readbyqxmd.com/read/27763438/factors-relating-to-access-to-dental-care-for-indigenous-south-australians
#18
Kelly Jones, Ngara Keeler, Chris Morris, David Brennan, Kaye Roberts-Thompson, Lisa Jamieson
OBJECTIVE: To explore and document self-reported factors contributing to Indigenous Australians' attendance and non-attendance at South Australian public dental clinics. METHODS: Semi-structured interviews were conducted with people (18 males and 26 females) referred for oral care through the Aboriginal Liaison Program of the South Australian Dental Service. Thematic analysis was performed on 44 transcribed conversations and a conceptual model developed. RESULTS: Persons completing all recommended treatment reported high self-efficacy, health literacy, social cohesion and previous use of dental services and presence of a health advocate...
2016: Journal of Health Care for the Poor and Underserved
https://www.readbyqxmd.com/read/27758940/ices-intraoperative-stereotactic-computed-tomography-guided-endoscopic-surgery-for-brain-hemorrhage-a-multicenter-randomized-controlled-trial
#19
Paul Vespa, Daniel Hanley, Joshua Betz, Alan Hoffer, Johnathan Engh, Robert Carter, Peter Nakaji, Chris Ogilvy, Jack Jallo, Warren Selman, Amanda Bistran-Hall, Karen Lane, Nichol McBee, Jeffery Saver, Richard E Thompson, Neil Martin
BACKGROUND AND PURPOSE: Intracerebral hemorrhage (ICH) is a devastating disease without a proven therapy to improve long-term outcome. Considerable controversy about the role of surgery remains. Minimally invasive endoscopic surgery for ICH offers the potential of improved neurological outcome. METHODS: We tested the hypothesis that intraoperative computerized tomographic image-guided endoscopic surgery is safe and effectively removes the majority of the hematoma rapidly...
November 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27755343/preliminary-study-of-a-caregiver-based-infant-and-child-feeding-and-swallowing-screening-tool
#20
Julie M Barkmeier-Kraemer, Chris Linn, Heather L Thompson, Robert S Byrd, Mary Beth Steinfeld, Raymond G Hoffmann, Alan H Silverman
OBJECTIVES: The Infant and Child Feeding Questionnaire© (ICFQ©) was created to facilitate early detection of feeding and swallowing problems. This is achieved by promoting effective communication between caregivers and healthcare providers resulting in referral for evaluation and treatment of feeding and swallowing problems by specialists. The purpose of this pilot study was to determine whether items from the ICFQ© could be used to screen for differences between children with known (FP) and without known feeding problems (NFP)...
October 13, 2016: Journal of Pediatric Gastroenterology and Nutrition
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Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"