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JOURNAL ARTICLE
Salome Ouazana, Peter Baltes, Ervin Toth, Hannah Lüttge, Artur Nemeth, Hanneke Beaumont, Begoña González-Suárez, Phey Shen Lee, Cristina Carretero, Reuma Margalit Yehuda, Luca Elli, Cristiano Spada, Mauro Bruno, Alessandro Mussetto, Pablo Cortegoso Valdivia, Aymeric Becq, Gareth Corbett, Antoine Martin, Alexander Robertson, Robert Benamouzig, Edward Despott, Maria Elena Riccioni, Reena Sidhu, Laura Calavas, Pierre Ellul, Adam Finta, Konstantinos Triantafyllou, Emanuele Rondonotti, Julien Kirchgesner, Alfonso Elosua, Deirdre McNamara, Xavier Dray
BACKGROUND AND AIMS: Small bowel (SB) capsule endoscopy (CE) is a first line procedure for exploring the SB. Endoscopic GastroIntestinal PlacemenT (EGIPT) of SB CE is sometimes necessary. While the experience of EGIPT is large in pediatric populations, we aimed to describe the safety, efficacy and outcomes of EGIPT of SB CE in adult patients. METHODS: The international CApsule endoscopy REsearch (iCARE) group set up a retrospective multicenter study. Patients over 18 year-old who underwent EGIPT of SB CE before May 2022 were included...
January 23, 2024: Gastrointestinal Endoscopy
#2
JOURNAL ARTICLE
Alistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M Taylor, Mona Hashim, Eduardo Calpena, Pamela J Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E Dunford, Renzo Guerrini, Adrian L Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J L Knight, Alexandra Y Kreins, Erika M Kvikstad, Craig B Langman, Tracy Lester, Kate E Lines, Simon R Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y Patel, Melissa M Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V Thakker, Stephen R F Twigg, Holm H Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H Schuh, Usha Kini, Andrew O M Wilkie, Niko Popitsch, Jenny C Taylor
BACKGROUND: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25-30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome. METHODS: We undertook WGS on a cohort of 122 unrelated rare disease patients and their relatives (300 genomes) who had been pre-screened by gene panels or arrays...
November 9, 2023: Genome Medicine
#3
JOURNAL ARTICLE
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1-2% is frequently quoted due to the possibility of parental germline mosaicism; but for any specific couple, this figure is usually incorrect. We present a systematic approach to providing individualized recurrence risk. By combining locus-specific sequencing of multiple tissues to detect occult mosaicism with long-read sequencing to determine the parent-of-origin of the mutation, we show that we can stratify the majority of couples into one of seven discrete categories associated with substantially different risks to future offspring...
February 15, 2023: Nature Communications
#4
JOURNAL ARTICLE
Edward P Harvey, Jung-Eun Shin, Meredith A Skiba, Genevieve R Nemeth, Joseph D Hurley, Alon Wellner, Ada Y Shaw, Victor G Miranda, Joseph K Min, Chang C Liu, Debora S Marks, Andrew C Kruse
Antibodies are essential biological research tools and important therapeutic agents, but some exhibit non-specific binding to off-target proteins and other biomolecules. Such polyreactive antibodies compromise screening pipelines, lead to incorrect and irreproducible experimental results, and are generally intractable for clinical development. Here, we design a set of experiments using a diverse naïve synthetic camelid antibody fragment (nanobody) library to enable machine learning models to accurately assess polyreactivity from protein sequence (AUC > 0...
December 7, 2022: Nature Communications
#5
JOURNAL ARTICLE
Andrew Seal, Mohamed Jelle, Balint Nemeth, Mohamed Yusuf Hassan, Dek Abdi Farah, Faith Mueni Musili, George Samuel Asol, Carlos Grijalva-Eternod, Edward Fottrell
BACKGROUND: During the COVID-19 pandemic, the importance of reliable public health data has been highlighted, as well as the multiple challenges in collecting it, especially in low income and conflict-affected countries. Somalia reported its first confirmed case of COVID-19 on 16 March 2020 and has experienced fluctuating infection levels since then. OBJECTIVES: To monitor the impact of COVID-19 on beneficiaries of a long-term cash transfer programme in Somalia and assess the utility of a syndromic score case definition and rapid mortality surveillance tool...
October 26, 2021: Global Health Action
#6
JOURNAL ARTICLE
William G Goodman, Donald T Ward, Kevin J Martin, Debra Drayer, Carol Moore, Jiahong Xu, James Lai, Yun Chon, Edward F Nemeth
BACKGROUND: Phosphorus levels in the range seen clinically among patients undergoing dialysis have been reported to attenuate calcium receptor activation and modify parathyroid hormone (PTH) release from isolated parathyroid glands in vitro . Some clinicians and providers of dialysis thus have suggested that calcimimetic agents are ineffective and should not be used to manage secondary hyperparathyroidism among those undergoing dialysis when serum phosphorus concentrations exceed certain threshold levels...
January 2022: Journal of the American Society of Nephrology: JASN
#7
JOURNAL ARTICLE
Fadil M Hannan, Caroline M Gorvin, Valerie N Babinsky, Mie K Olesen, Michelle Stewart, Sara Wells, Roger D Cox, Edward F Nemeth, Rajesh V Thakker
Calcilytics are calcium-sensing receptor (CaSR) antagonists that reduce the sensitivity of the CaSR to extracellular calcium. Calcilytics have the potential to treat autosomal dominant hypocalcemia type 1 (ADH1), which is caused by germline gain-of-function CaSR mutations and leads to symptomatic hypocalcemia, inappropriately low PTH concentrations, and hypercalciuria. To date, only one calcilytic compound, NPSP795, has been evaluated in patients with ADH1: Doses of up to 30 mg per patient have been shown to increase PTH concentrations, but did not significantly alter ionized blood calcium concentrations...
October 2020: JBMR Plus
#8
JOURNAL ARTICLE
Levente Kiss, Niloofar Vaghefi, Kaylene Bransgrove, John D W Dearnaley, Susumu Takamatsu, Yu Pei Tan, Craig Marston, Shu-Yan Liu, Dan-Ni Jin, Dante L Adorada, Jordan Bailey, Maria Graciela Cabrera de Álvarez, Andrew Daly, Pamela Maia Dirchwolf, Lynne Jones, Thuan Dat Nguyen, Jacqueline Edwards, Wellcome Ho, Lisa Kelly, Sharl J L Mintoff, Jennifer Morrison, Márk Z Németh, Sandy Perkins, Roger G Shivas, Reannon Smith, Kara Stuart, Ronald Southwell, Unaisi Turaganivalu, Kálmán Zoltán Váczy, Annie Van Blommestein, Dominie Wright, Anthony Young, Uwe Braun
In contrast to Eurasia and North America, powdery mildews (Ascomycota, Erysiphales) are understudied in Australia. There are over 900 species known globally, with fewer than currently 60 recorded from Australia. Some of the Australian records are doubtful as the identifications were presumptive, being based on host plant-pathogen lists from overseas. The goal of this study was to provide the first comprehensive catalog of all powdery mildew species present in Australia. The project resulted in (i) an up-to-date list of all the taxa that have been identified in Australia based on published DNA barcode sequences prior to this study; (ii) the precise identification of 117 specimens freshly collected from across the country; and (iii) the precise identification of 30 herbarium specimens collected between 1975 and 2013...
2020: Frontiers in Microbiology
#9
JOURNAL ARTICLE
Patricia P Centeno, Amanda Herberger, Hee-Chang Mun, Chialing Tu, Edward F Nemeth, Wenhan Chang, Arthur D Conigrave, Donald T Ward
Extracellular phosphate regulates its own renal excretion by eliciting concentration-dependent secretion of parathyroid hormone (PTH). However, the phosphate-sensing mechanism remains unknown and requires elucidation for understanding the aetiology of secondary hyperparathyroidism in chronic kidney disease (CKD). The calcium-sensing receptor (CaSR) is the main controller of PTH secretion and here we show that raising phosphate concentration within the pathophysiologic range for CKD significantly inhibits CaSR activity via non-competitive antagonism...
October 16, 2019: Nature Communications
#10
JOURNAL ARTICLE
John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H Németh, Elizabeth Ormondroyd, Smita Y Patel, Alistair T Pagnamenta, Jenny C Taylor, Kate L Thomson, Hugh Watkins, Andrew O M Wilkie, Julian C Knight
BACKGROUND: A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here we describe the results of establishing a genomic medicine multi-disciplinary team (GM-MDT) for case selection, processing, interpretation and return of results. METHODS: We report a consecutive case series of 132 patients (involving 10 medical specialties with 43...
July 25, 2019: Genome Medicine
#11
JOURNAL ARTICLE
Lori A Daiello, Annie M Racine, Ray Yun Gou, Edward R Marcantonio, Zhongcong Xie, Lisa J Kunze, Kamen V Vlassakov, Sharon K Inouye, Richard N Jones, David Alsop, Thomas Travison, Steven Arnold, Zara Cooper, Bradford Dickerson, Tamara Fong, Eran Metzger, Alvaro Pascual-Leone, Eva M Schmitt, Mouhsin Shafi, Michele Cavallari, Weiying Dai, Simon T Dillon, Janet McElhaney, Charles Guttmann, Tammy Hshieh, George Kuchel, Towia Libermann, Long Ngo, Daniel Press, Jane Saczynski, Sarinnapha Vasunilashorn, Margaret O'Connor, Eyal Kimchi, Jason Strauss, Bonnie Wong, Michael Belkin, Douglas Ayres, Mark Callery, Frank Pomposelli, John Wright, Marc Schermerhorn, Tatiana Abrantes, Asha Albuquerque, Sylvie Bertrand, Amanda Brown, Amy Callahan, Madeline D'Aquila, Sarah Dowal, Meaghan Fox, Jacqueline Gallagher, Rebecca Anna Gersten, Ariel Hodara, Ben Helfand, Jennifer Inloes, Jennifer Kettell, Aleksandra Kuczmarska, Jacqueline Nee, Emese Nemeth, Lisa Ochsner, Kerry Palihnich, Katelyn Parisi, Margaret Puelle, Sarah Rastegar, Margaret Vella, Guoquan Xu, Margaret Bryan, Jamey Guess, Dee Enghorn, Alden Gross, Yun Gou, Daniel Habtemariam, Ilean Isaza, Cyrus Kosar, Christopher Rockett, Douglas Tommet, Ted Gruen, Meg Ross, Katherine Tasker, James Gee, Ann Kolanowski, Margaret Pisani, Sophia de Rooij, Selwyn Rogers, Stephanie Studenski, Yaakov Stern, Anthony Whittemore, Gary Gottlieb, John Orav, Reisa Sperling
BACKGROUND: Postoperative delirium and postoperative cognitive dysfunction share risk factors and may co-occur, but their relationship is not well established. The primary goals of this study were to describe the prevalence of postoperative cognitive dysfunction and to investigate its association with in-hospital delirium. The authors hypothesized that delirium would be a significant risk factor for postoperative cognitive dysfunction during follow-up. METHODS: This study used data from an observational study of cognitive outcomes after major noncardiac surgery, the Successful Aging after Elective Surgery study...
September 2019: Anesthesiology
#12
JOURNAL ARTICLE
Mary Scott Roberts, Rachel I Gafni, Beth Brillante, Lori C Guthrie, Jamie Streit, David Gash, Jeff Gelb, Eva Krusinska, Sarah C Brennan, Martin Schepelmann, Daniela Riccardi, Mohd Ezuan Bin Khayat, Donald T Ward, Edward F Nemeth, Ralf Rosskamp, Michael T Collins
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by heterozygous, gain-of-function mutations of the calcium-sensing receptor gene (CAR). Individuals are hypocalcemic with inappropriately low parathyroid hormone (PTH) secretion and relative hypercalciuria. Calcilytics are negative allosteric modulators of the extracellular calcium receptor (CaR) and therefore may have therapeutic benefits in ADH1. Five adults with ADH1 due to four distinct CAR mutations received escalating doses of the calcilytic compound NPSP795 (SHP635) on 3 consecutive days...
September 2019: Journal of Bone and Mineral Research
#13
JOURNAL ARTICLE
Antal Tapodi, Daniel M Clemens, Alice Uwineza, Miguel Jarrin, Martin W Goldberg, Emmanuelle Thinon, William P Heal, Edward W Tate, Karinne Nemeth-Cahalan, Irene Vorontsova, James E Hall, Roy A Quinlan
BFSP1 (beaded filament structural protein 1, filensin) is a cytoskeletal protein expressed in the eye lens. It binds AQP0 in vitro and its C-terminal sequences have been suggested to regulate the water channel activity of AQP0. A myristoylated fragment from the C-terminus of BFSP1 was found in AQP0 enriched fractions. Here we identify BFSP1 as a substrate for caspase-mediated cleavage at several C-terminal sites including D433. Cleavage at D433 exposes a cryptic myristoylation sequence (434-440). We confirm that this sequence is an excellent substrate for both NMT1 and 2 (N-myristoyl transferase)...
August 2019: Experimental Eye Research
#14
JOURNAL ARTICLE
Thiago Gagliano-Jucá, Karol M Pencina, Tomas Ganz, Thomas G Travison, Philip W Kantoff, Paul L Nguyen, Mary-Ellen Taplin, Adam S Kibel, Zhuoying Li, Grace Huang, Robert R Edwards, Elizabeta Nemeth, Shehzad Basaria
Androgen deprivation therapy (ADT) is a mainstay of treatment for prostate cancer (PCa). As androgens stimulate erythropoiesis, ADT is associated with a reduction in hematocrit, which in turn contributes to fatigue and related morbidity. However, the mechanisms involved in ADT-induced reduction in erythropoiesis remain unclear. We conducted a 6-mo prospective cohort study and enrolled men with PCa about to undergo ADT (ADT-Group) and a control group of men who had previously undergone prostatectomy for localized PCa and were in remission (Non-ADT Group)...
December 1, 2018: American Journal of Physiology. Endocrinology and Metabolism
#15
REVIEW
Edward F Nemeth, Bradford C Van Wagenen, Manuel F Balandrin
The extracellular calcium receptor (CaR) is a G protein-coupled receptor (GPCR) and the pivotal molecule regulating systemic Ca2+ homeostasis. The CaR was a challenging target for drug discovery because its physiological ligand is an inorganic ion (Ca2+ ) rather than a molecule so there was no structural template to guide medicinal chemistry. Nonetheless, small molecules targeting this receptor were discovered. Calcimimetics are agonists or positive allosteric modulators of the CaR, while calcilytics are antagonists and all to date are negative allosteric modulators...
2018: Progress in Medicinal Chemistry
#16
LETTER
Erica L Clinkenbeard, Mark R Hanudel, Keith R Stayrook, Hitesh Nidumanda Appaiah, Emily G Farrow, Taryn A Cass, Lelia J Summers, Colin S Ip, Julia M Hum, Joseph C Thomas, Mircea Ivan, Briana M Richine, Rebecca J Chan, Thomas L Clemens, Ernestina Schipani, Yves Sabbagh, Linlin Xu, Edward F Srour, Marta B Alvarez, Melissa A Kacena, Isidro B Salusky, Tomas Ganz, Elizabeta Nemeth, Kenneth E White
No abstract text is available yet for this article.
November 2017: Haematologica
#17
JOURNAL ARTICLE
Orsolya Demeter, Attila Kormos, Christine Koehler, Gábor Mező, Krisztina Németh, Eszter Kozma, Levente B Takács, Edward A Lemke, Péter Kele
Herein we present the synthesis and fluorogenic characterization of a series of double-quenched bisazide cyanine probes with emission maxima between 565 and 580 nm that can participate in covalent, two-point binding bioorthogonal tagging schemes in combination with bis-cyclooctynylated peptides. Compared to other fluorogenic cyanines, these double-quenched systems showed remarkable fluorescence intensity increase upon formation of cyclic dye-peptide conjugates. Furthermore, we also demonstrated that these bisazides are useful fluorogenic cross-linking platforms that are able to form a covalent linkage between monocyclooctynylated proteins...
May 17, 2017: Bioconjugate Chemistry
#18
JOURNAL ARTICLE
Jan Van Deun, Pieter Mestdagh, Patrizia Agostinis, Özden Akay, Sushma Anand, Jasper Anckaert, Zoraida Andreu Martinez, Tine Baetens, Els Beghein, Laurence Bertier, Geert Berx, Janneke Boere, Stephanie Boukouris, Michel Bremer, Dominik Buschmann, James B Byrd, Clara Casert, Lesley Cheng, Anna Cmoch, Delphine Daveloose, Eva De Smedt, Seyma Demirsoy, Victoria Depoorter, Bert Dhondt, Tom A P Driedonks, Aleksandra Dudek, Abdou Elsharawy, Ilaria Floris, Andrew D Foers, Kathrin Gärtner, Abhishek D Garg, Edward Geeurickx, Jan Gettemans, Farzaneh Ghazavi, Bernd Giebel, Tom Groot Kormelink, Grace Hancock, Hetty Helsmoortel, Andrew F Hill, Vincent Hyenne, Hina Kalra, David Kim, Joanna Kowal, Sandra Kraemer, Petra Leidinger, Carina Leonelli, Yaxuan Liang, Lien Lippens, Shu Liu, Alessandra Lo Cicero, Shaun Martin, Suresh Mathivanan, Prabhu Mathiyalagan, Támas Matusek, Gloria Milani, Marta Monguió-Tortajada, Liselot M Mus, Dillon C Muth, Andrea Németh, Esther N M Nolte-'t Hoen, Lorraine O'Driscoll, Roberta Palmulli, Michael W Pfaffl, Bjarke Primdal-Bengtson, Erminia Romano, Quentin Rousseau, Susmita Sahoo, Natalia Sampaio, Monisha Samuel, Benjamin Scicluna, Bieke Soen, Anneleen Steels, Johannes V Swinnen, Maarit Takatalo, Safia Thaminy, Clotilde Théry, Joeri Tulkens, Isabel Van Audenhove, Susanne van der Grein, Alan Van Goethem, Martijn J van Herwijnen, Guillaume Van Niel, Nadine Van Roy, Alexander R Van Vliet, Niels Vandamme, Suzanne Vanhauwaert, Glenn Vergauwen, Frederik Verweij, Annelynn Wallaert, Marca Wauben, Kenneth W Witwer, Marijke I Zonneveld, Olivier De Wever, Jo Vandesompele, An Hendrix
We argue that the field of extracellular vesicle (EV) biology needs more transparent reporting to facilitate interpretation and replication of experiments. To achieve this, we describe EV-TRACK, a crowdsourcing knowledgebase (https://evtrack.org) that centralizes EV biology and methodology with the goal of stimulating authors, reviewers, editors and funders to put experimental guidelines into practice.
February 28, 2017: Nature Methods
#19
JOURNAL ARTICLE
Lynne S Nemeth, Carolyn Jenkins, Edward C Jauch, Sharon Conway, Adam Pearlman, Ida J Spruill, Lynette J Brown, Joyce Linnen, Florene Linnen, Jeannette O Andrews
Treatment for acute ischemic stroke must be initiated within hours of stroke symptom onset, and the sooner it is administered, the better. In South Carolina, 76% of the population can access expert stroke care, and rural hospitals may provide specialized treatment using telemedicine, but many stroke sufferers seek care too late to achieve full benefit. Using a community-engaged approach in a southern rural community, we explored barriers and facilitators to early stroke care and implications for improvement...
December 2016: Research in Nursing & Health
#20
JOURNAL ARTICLE
Jane S Saczynski, Sharon K Inouye, Jamey Guess, Richard N Jones, Tamara G Fong, Emese Nemeth, Ariel Hodara, Long Ngo, Edward R Marcantonio
OBJECTIVES: To establish Montreal Cognitive Assessment (MoCA) scores that correspond to well-established cut-points on the Mini-Mental State Examination (MMSE). DESIGN: Cross-sectional observational study. SETTING: General medical service of a large teaching hospital. PARTICIPANTS: Individuals aged 75 and older (N = 199; mean age 84, 63% female). MEASUREMENTS: The MoCA (range 0-30) and the MMSE (range 0-30) were administered within 2 hours of each other...
November 2015: Journal of the American Geriatrics Society
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