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https://www.readbyqxmd.com/read/28397002/the-uk-myotonic-dystrophy-patient-registry-facilitating-and-accelerating-clinical-research
#1
Libby Wood, Isabell Cordts, Antonio Atalaia, Chiara Marini-Bettolo, Paul Maddison, Margaret Phillips, Mark Roberts, Mark Rogers, Simon Hammans, Volker Straub, Richard Petty, Richard Orrell, Darren G Monckton, Nikoletta Nikolenko, Aura Cecilia Jimenez-Moreno, Rachel Thompson, David Hilton-Jones, Chris Turner, Hanns Lochmüller
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the rarity and variability of the disease. The UK Myotonic Dystrophy Patient Registry is a patient self-enrolling online database collecting clinical and genetic information. For this cross-sectional "snapshot" analysis, 556 patients with a confirmed diagnosis of DM1 registered between May 2012 and July 2016 were included...
April 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28336390/is-parasternal-intercostal-emg-an-accurate-surrogate-of-respiratory-neural-drive-and-biomarker-of-dyspnea-during-cycle-exercise-testing
#2
Andrew H Ramsook, Reid A Mitchell, Tyson Bell, Suzanne Calli, Chris Kennedy, Jenny Lehmann, Matt Thompson, Joseph H Puyat, Jordan A Guenette
Recent evidence suggests that surface electromyography of the parasternal intercostals (EMGpara) can be a non-invasive alternative to diaphragmatic EMG (EMGdi) for estimating neural respiratory drive (NRD) during cardiopulmonary exercise testing (CPET). The purpose of this study was to determine if non-respiratory muscles influence EMGpara by having subjects place their hands on (Hon) and off (Hoff) the handlebars during cycling-based CPET. Ten healthy adults performed an incremental cycling test until volitional exhaustion...
March 20, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28320601/coronary-atherosclerosis-in-indigenous-south-american-tsimane-a-cross-sectional-cohort-study
#3
Hillard Kaplan, Randall C Thompson, Benjamin C Trumble, L Samuel Wann, Adel H Allam, Bret Beheim, Bruno Frohlich, M Linda Sutherland, James D Sutherland, Jonathan Stieglitz, Daniel Eid Rodriguez, David E Michalik, Chris J Rowan, Guido P Lombardi, Ram Bedi, Angela R Garcia, James K Min, Jagat Narula, Caleb E Finch, Michael Gurven, Gregory S Thomas
BACKGROUND: Conventional coronary artery disease risk factors might potentially explain at least 90% of the attributable risk of coronary artery disease. To better understand the association between the pre-industrial lifestyle and low prevalence of coronary artery disease risk factors, we examined the Tsimane, a Bolivian population living a subsistence lifestyle of hunting, gathering, fishing, and farming with few cardiovascular risk factors, but high infectious inflammatory burden. METHODS: We did a cross-sectional cohort study including all individuals who self-identified as Tsimane and who were aged 40 years or older...
March 16, 2017: Lancet
https://www.readbyqxmd.com/read/28297587/efficiently-specified-ventral-midbrain-dopamine-neurons-from-human-pluripotent-stem-cells-under-xeno-free-conditions-restore-motor-deficits-in-parkinsonian-rodents
#4
Jonathan C Niclis, Carlos W Gantner, Walaa F Alsanie, Stuart J McDougall, Chris R Bye, Andrew G Elefanty, Edouard G Stanley, John M Haynes, Colin W Pouton, Lachlan H Thompson, Clare L Parish
Recent studies have shown evidence for the functional integration of human pluripotent stem cell (hPSC)-derived ventral midbrain dopamine (vmDA) neurons in animal models of Parkinson's disease. Although these cells present a sustainable alternative to fetal mesencephalic grafts, a number of hurdles require attention prior to clinical translation. These include the persistent use of xenogeneic reagents and challenges associated with scalability and storage of differentiated cells. In this study, we describe the first fully defined feeder- and xenogeneic-free protocol for the generation of vmDA neurons from hPSCs and utilize two novel reporter knock-in lines (LMX1A-eGFP and PITX3-eGFP) for in-depth in vitro and in vivo tracking...
March 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28281647/analysis-of-campylobacter-jejuni-infection-in-the-gnotobiotic-piglet-and-genome-wide-identification-of-bacterial-factors-required-for-infection
#5
Stefan P W de Vries, Aileen Linn, Kareen Macleod, Amanda MacCallum, Simon P Hardy, Gill Douce, Eleanor Watson, Mark P Dagleish, Hal Thompson, Andy Stevenson, David Kennedy, Abiyad Baig, Chris Coward, Duncan J Maskell, David G E Smith, Andrew J Grant, Paul Everest
To investigate how Campylobacter jejuni causes the clinical symptoms of diarrhoeal disease in humans, use of a relevant animal model is essential. Such a model should mimic the human disease closely in terms of host physiology, incubation period before onset of disease, clinical signs and a comparable outcome of disease. In this study, we used a gnotobiotic piglet model to study determinants of pathogenicity of C. jejuni. In this model, C. jejuni successfully established infection and piglets developed an increased temperature with watery diarrhoea, which was caused by a leaky epithelium and reduced bile re-absorption in the intestines...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28268345/properties-of-the-motor-unit-action-potential-shape-in-proximal-and-distal-muscles-of-the-upper-limb-in-healthy-and-post-stroke-individuals
#6
Laura Miller McPherson, Francesco Negro, Chris K Thompson, Laura Sanchez, C J Heckman, Jules Dewald, Dario Farina
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/28241208/association-between-telomere-length-and-risk-of-cancer-and-non-neoplastic-diseases-a-mendelian-randomization-study
#7
Philip C Haycock, Stephen Burgess, Aayah Nounu, Jie Zheng, George N Okoli, Jack Bowden, Kaitlin Hazel Wade, Nicholas J Timpson, David M Evans, Peter Willeit, Abraham Aviv, Tom R Gaunt, Gibran Hemani, Massimo Mangino, Hayley Patricia Ellis, Kathreena M Kurian, Karen A Pooley, Rosalind A Eeles, Jeffrey E Lee, Shenying Fang, Wei V Chen, Matthew H Law, Lisa M Bowdler, Mark M Iles, Qiong Yang, Bradford B Worrall, Hugh Stephen Markus, Rayjean J Hung, Chris I Amos, Amanda B Spurdle, Deborah J Thompson, Tracy A O'Mara, Brian Wolpin, Laufey Amundadottir, Rachael Stolzenberg-Solomon, Antonia Trichopoulou, N Charlotte Onland-Moret, Eiliv Lund, Eric J Duell, Federico Canzian, Gianluca Severi, Kim Overvad, Marc J Gunter, Rosario Tumino, Ulrika Svenson, Andre van Rij, Annette F Baas, Matthew J Bown, Nilesh J Samani, Femke N G van t'Hof, Gerard Tromp, Gregory T Jones, Helena Kuivaniemi, James R Elmore, Mattias Johansson, James Mckay, Ghislaine Scelo, Robert Carreras-Torres, Valerie Gaborieau, Paul Brennan, Paige M Bracci, Rachel E Neale, Sara H Olson, Steven Gallinger, Donghui Li, Gloria M Petersen, Harvey A Risch, Alison P Klein, Jiali Han, Christian C Abnet, Neal D Freedman, Philip R Taylor, John M Maris, Katja K Aben, Lambertus A Kiemeney, Sita H Vermeulen, John K Wiencke, Kyle M Walsh, Margaret Wrensch, Terri Rice, Clare Turnbull, Kevin Litchfield, Lavinia Paternoster, Marie Standl, Gonçalo R Abecasis, John Paul SanGiovanni, Yong Li, Vladan Mijatovic, Yadav Sapkota, Siew-Kee Low, Krina T Zondervan, Grant W Montgomery, Dale R Nyholt, David A van Heel, Karen Hunt, Dan E Arking, Foram N Ashar, Nona Sotoodehnia, Daniel Woo, Jonathan Rosand, Mary E Comeau, W Mark Brown, Edwin K Silverman, John E Hokanson, Michael H Cho, Jennie Hui, Manuel A Ferreira, Philip J Thompson, Alanna C Morrison, Janine F Felix, Nicholas L Smith, Angela M Christiano, Lynn Petukhova, Regina C Betz, Xing Fan, Xuejun Zhang, Caihong Zhu, Carl D Langefeld, Susan D Thompson, Feijie Wang, Xu Lin, David A Schwartz, Tasha Fingerlin, Jerome I Rotter, Mary Frances Cotch, Richard A Jensen, Matthias Munz, Henrik Dommisch, Arne S Schaefer, Fang Han, Hanna M Ollila, Ryan P Hillary, Omar Albagha, Stuart H Ralston, Chenjie Zeng, Wei Zheng, Xiao-Ou Shu, Andre Reis, Steffen Uebe, Ulrike Hüffmeier, Yoshiya Kawamura, Takeshi Otowa, Tsukasa Sasaki, Martin Lloyd Hibberd, Sonia Davila, Gang Xie, Katherine Siminovitch, Jin-Xin Bei, Yi-Xin Zeng, Asta Försti, Bowang Chen, Stefano Landi, Andre Franke, Annegret Fischer, David Ellinghaus, Carlos Flores, Imre Noth, Shwu-Fan Ma, Jia Nee Foo, Jianjun Liu, Jong-Won Kim, David G Cox, Olivier Delattre, Olivier Mirabeau, Christine F Skibola, Clara S Tang, Merce Garcia-Barcelo, Kai-Ping Chang, Wen-Hui Su, Yu-Sun Chang, Nicholas G Martin, Scott Gordon, Tracey D Wade, Chaeyoung Lee, Michiaki Kubo, Pei-Chieng Cha, Yusuke Nakamura, Daniel Levy, Masayuki Kimura, Shih-Jen Hwang, Steven Hunt, Tim Spector, Nicole Soranzo, Ani W Manichaikul, R Graham Barr, Bratati Kahali, Elizabeth Speliotes, Laura M Yerges-Armstrong, Ching-Yu Cheng, Jost B Jonas, Tien Yin Wong, Isabella Fogh, Kuang Lin, John F Powell, Kenneth Rice, Caroline L Relton, Richard M Martin, George Davey Smith
Importance: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. Objective: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. Data Sources: Genomewide association studies (GWAS) published up to January 15, 2015...
February 23, 2017: JAMA Oncology
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
#8
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
#9
Alan H Shih, Cem Meydan, Kaitlyn Shank, Francine E Garrett-Bakelman, Patrick S Ward, Andrew M Intlekofer, Abbas Nazir, Eytan M Stein, Kristina Knapp, Jacob Glass, Jeremy Travins, Kim Straley, Camelia Gliser, Christopher E Mason, Katharine Yen, Craig B Thompson, Ari Melnick, Ross L Levine
Genomic studies in acute myeloid leukemias (AML) have identified mutations that drive altered DNA methylation, including TET2 and IDH2 Here, we show that models of AML resulting from TET2 or IDH2 mutations combined with FLT3(ITD) 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 antileukemic activity...
February 13, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28193628/management-of-endocrine-disease-neuroendocrine-surveillance-and-management-of-neurosurgical-patients
#10
REVIEW
Aoife Garrahy, Mark Sherlock, Christopher 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. Unrecognised acute hypopituitarism, particularly ACTH/cortisol deficiency and diabetes insipidus, can be life threatening. Although hypopituitarism may be transient, up to 30% of survivors of TBI have chronic hypopituitarism, which can diminish quality of life and hamper rehabilitation...
May 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28147221/clinical-practice-update-expert-review-on-endoscopic-bariatric%C3%A2-therapies
#11
REVIEW
Barham K Abu Dayyeh, Steven Edmundowicz, Chris C Thompson
BACKGROUND & AIMS: Multiple endoscopic bariatric therapies (EBTs) currently are being evaluated or are in clinical use in the United States. EBTs are well positioned to fill an important gap in the management of obesity and metabolic disease. The purpose of this expert review is to update gastroenterologists on these therapies and provide practice advice on how to incorporate them into clinical practice. METHODS: The evidence reviewed in this work is a distillation of comprehensive search of several English-language databases and a manual review of relevant publications (including systematic reviews and meeting abstracts)...
January 29, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28146470/rare-and-low-frequency-coding-variants-alter-human-adult-height
#12
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
#13
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
#14
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
Coccidioidomycosis is a common cause of community-acquired pneumonia in areas of the southwestern United States in which the disease is endemic. Clinical presentations range from self-limited disease to severe disseminated disease. Therefore, early and accurate diagnosis is essential to ensure appropriate treatment and monitoring. Currently available diagnostic tests have variable accuracy, particularly in certain patient populations, and new tests may offer improved accuracy for the diagnosis of coccidioidomycosis...
March 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
#15
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
#16
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
#17
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
#18
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
#19
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...
March 2017: 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
#20
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
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