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4085 citation(s) found for "Uy, Jonathan J".

Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients
Hu, Rou-Mu, Tester, David J. , Li, Ryan , Sun, Tianyu , Peterson, Blaise Z., Ackerman, Michael J. , Makielski, Jonathan C., Tan, Bi-Hua, Li, Ryan, Tan, Bi‐Hua

Channels | July 7, 2018 | Volume: 12 | Issue: 1 | Pages: 176-186

10.1080/19336950.2018.1475794 | PMID 29983085 Get It

Folic acid supplementation improves vascular endothelial function, yet not skin blood flow during exercise in the heat, in patients with heart failure
Balmain, Bryce N. , Jay, Ollie , Morris, Norman , Stewart, Glenn M. , Shiino, Kenji, McFarland, Amelia J. , Jayasinghe, Rohan, Chan, Jonathan , Sabapathy, Surendran

American Journal of Physiology-Regulatory, Integrative and Comparative Physiology | July 5, 2018 | Volume: 315 | Issue: 4 | Pages: R810-R819

10.1152/ajpregu.00132.2018 | PMID 29975566 Get It

Heart failure (HF) patients are susceptible to heat strain during exercise, secondary to blunted skin blood flow (SkBF) responses, which may be explained by impaired nitric oxide (NO)-dependent vasodilation. Folic acid improves vascular endothelial function and SkBF through NO-dependent mechanisms in healthy older individuals and patients with cardiovascular disease. We examined the effect of folic acid supplementation (5 mg/day for 6 wk) on vascular function [brachial artery flow-mediated dilation (FMD)] and SkBF responses [cutaneous vascular conductance (CVC)] during 60 min of exercise at a fixed metabolic heat production (300 ẆHprod) in a 30°C environment in 10 patients with HF (New York Heart Association Class I–II) and 10 healthy controls (CON). Serum folic acid concentration increased in HF [preintervention (pre): 1.4 ± 0.2; postintervention (post): 8.9 ± 6.7 ng/ml, P = 0.01] and CON (pre: 1.3 ± 0.6; post: 5.2 ± 4.9 ng/ml, P = 0.03). FMD improved by 2.1 ± 1.3% in HF ( P < 0.01), but no change was observed in CON postintervention ( P = 0.20). During exercise, the external workload performed on the cycle ergometer to attain the fixed level of heat production for exercise was similar between groups (HF: 60 ± 13; CON: 65 ± 20 external workload, P = 0.52). Increases in CVC during exercise were similar in HF (pre: 0.89 ± 0.43; post: 0.83 ± 0.45 au/mmHg, P = 0.80) and CON (pre: 2.01 ± 0.79; post: 2.03 ± 0.72 au/mmHg, P = 0.73), although the values were consistently lower in HF for both pre- and postintervention measurement intervals ( P < 0.05). These findings demonstrate that folic acid improves vascular endothelial function in patients with HF but does not enhance SkBF during exercise at a fixed metabolic heat production in a warm environment.
SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups
Baruteau, Alban‐Elouen , Kyndt, Florence , Behr, Elijah R. , Vink, Arja S. , Lachaud, Matthias , Joong, Anna , Horie, Minoru , Crotti, Lia , Bos, J. Martijn , Stephenson, Elizabeth A. , Wong, Leonie C.H., Abrams, Dominic J. , Davis, Andrew M. , Winbo, Annika , Sanatani, Shubhayan , Liberman, Leonardo , Kaski, Juan Pablo , Rudic, Boris , Kwok, Sit Yee, Rieubland, Claudine, Tfelt‐Hansen, Jacob , Hare, George F. Van , Guyomarc’h-Delasalle, Béatrice, Wijeyeratne, Yanushi D. , Gourraud, Jean‐Baptiste , Marec, Hervé Le , Ozawa, Junichi , Fressart, Véronique , Lupoglazoff, Jean‐Marc, Spazzolini, Carla , Aiba, Takeshi , Tester, David J. , Zahavich, Laura , Beauséjour-Ladouceur, Virginie, Jadhav, Mangesh P. , Skinner, Jonathan R. , Franciosi, Sonia , Abdelsayed, Mena , Ruben, Peter C. , Yung, Tak‐Cheung , Ackerman, Michael J. , Wilde, Arthur A.M. , Probst, Vincent , Bos, Johan M, Crotti, Lia , Horie, Minoru , Behr, Elijah Raphael , Probst, Vincent , Bos, Johan M , Tfelt-Hansen, Jacob , Davis, Andrew , Skinner, Jonathan R , Sanatani, Shubhayan , Abrams, Dominic J , Baruteau, Alban-Elouen , Schott, Jean‐Jacques , Denjoy, Isabelle , Shimizu, Wataru , Dubin, Anne M. , Blom, Nico A. , Dagradi, Federica , Aiba, Takeshi , Krahn, Andrew D. , Schwartz, Peter J. , Kaski, Juan P , Gourraud, Jean-Baptiste , Spazzolini, Carla

European Heart Journal | July 3, 2018 | Volume: 39 | Issue: 31 | Pages: 2879-2887

10.1093/eurheartj/ehy412 | PMID 30059973 Get It

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study
Qian, Frank , Wang, Shengfeng , McGuffog, Lesley, Barrowdale, Daniel , Oosterwijk, Jan C., Evans, D. Gareth , Engel, Christoph , Kast, Karin, Aalfs, Cora M. , Adank, Muriel A. , Agnarsson, Bjarni A. , Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L. , Ausems, Margreet G.E.M. , Azzollini, Jacopo , Barouk-Simonet, Emmanuelle, Belotti, Muriel, Benı́tez, Javier , Berger, Andreas, Borg, Åke , Bradbury, Angela R. , Brunet, Joan , Caldés, Trinidad , Caputo, Sandrine M. , Chiquette, Jocelyne , Collée, J. Margriet, Coupier, Isabelle, Daly, Mary B., Davidson, Rosemarie, Donaldson, Alan, Dorfling, Cecilia M., Eeles, Rosalind A. , Feliubadaló, Lídia , Foretová, Lenka , Fowler, Jeffrey M., Friedman, Eitan , Frost, Debra, Ganz, Patricia A. , García‐Barberán, Vanesa , Glendon, Gord , Gómez, E. , Hahnen, Eric , Hamann, Ute, Henderson, Alex, Hendricks, Carolyn B., Hulick, Peter J. , Imyanitov, Evgeny N., Izatt, Louise , Jakubowska, Anna , Kaczmarek, Katarzyna, Kang, Eunyoung , Kets, Carolien M., Kim, Sung-Won, Kwong, Ava , Laitman, Yael , Lasset, Christine, Lee, Min Hyuk , Lee, Jong Won, Lee, Jihyoun , Lester, Jenny, Lesueur, Fabienne , Loud, Jennifer T. , Mebirouk, Noura, Meijers‐Heijboer, Hanne , Meindl, Alfons , Montagna, Marco , Mooij, Thea M. , Mouret‐Fourme, Emmanuelle, Nathanson, Katherine L. , Niederacher, Dieter , Offit, Kenneth, Oláh, Edith , Ong, Kai-Ren, Ottini, Laura , Park, Sue K. , Peterlongo, Paolo , Pfeiler, Georg , Phelan, Catherine M., Poppe, Bruce , Pradhan, Nisha , Radice, Paolo , Ramus, Susan J. , Rantala, Johanna, Rodriguez, Gustavo C. , Schmutzler, Rita K., Selkirk, Christina G. , Shah, Payal D. , Simard, Jacques , Sutter, Christian , Tan, Yen Y. , Teixeira, R , Teo, Soo‐Hwang , Terry, Mary Beth , Thomassen, Mads , Toland, Amanda Ewart, Tucker, Kathy , Engelen, Klaartje van , Rensburg, Elizabeth J. van , Wang‐Gohrke, Shan , Wappenschmidt, Barbara , Weitzel, Jeffrey N. , Collaborators, GEMO Study, HEBON, EMBRACE, Greene, Mark H. , Rookus, Matti A. , Easton, Douglas F. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Goldgar, David E., Olopade, Olufunmilayo I. , Huo, Dezheng , Durocher, Francine , Teixeira, Manuel R. , Mitchell, Jonathan A. , Białkowska, Katarzyna , Hulick, Peter J , Lesueur, Fabienne , Peterlongo, Paolo , Ramus, Susan J , Teixeira, Manuel R , Teo, Soo H , van Rensburg, Elizabeth J , Radice, Paolo , Weitzel, Jeffrey N , Azzollini, Jacopo , Brunet, Joan , Eeles, Rosalind A , Evans, D Gareth , Olopade, Olufunmilayo I , Jakubowska, Anna , Nathanson, Katherine L , Barrowdale, Daniel , Benitez, Javier , Engel, Christoph , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Ottini, Laura , Mitchell, Jonathan S. , Leslie, Goska , Chung, Wendy K. , Adlard, Julian , Arun, Banu , Barwell, Julian , Borg, Åke , Buys, Saundra S. , Caligo, Maria A. , Campbell, Ian , Claes, Kathleen , Couch, Fergus J. , Dı́ez, Orland , Domchek, Susan M. , Garber, Judy E. , Godwin, Andrew K. , Gronwald, Jacek , Hopper, John L. , Isaacs, Claudine , Izquierdo, Á. , Karlan, Beth Y. , Kim, Sung-Won , Lasset, Christine , Lubiński, Jan , Meindl, Alfons , Miller, Austin , Morrison, Patrick J. , Neuhausen, Susan L. , Nevanlinna, Heli , Nielsen, Finn Cilius , Nussbaum, Robert L. , Robson, Mark E. , Singer, Christian F. , Giles, Graham G , Stoppa‐Lyonnet, Dominique , Tischkowitz, Marc D. , Toland, Amanda Ewart , Tung, Nadine , Asperen, Christi J. van , Yannoukakos, Drakoulis , Collaborators, GEMO Study, HEBON, EMBRACE, Rebbeck, Timothy R. , Feliubadaló, Lidia , Gómez-García, Encarna B , Terry, Mary Beth , Kwong, Ava

JNCI: Journal of the National Cancer Institute | July 3, 2018 | Volume: 111 | Issue: 4 | Pages: 350-364

10.1093/jnci/djy132 | PMID 30312457 Get It

Can a Brief Training Session Prepare Physician Sonographers of Differing Experience to Measure the Ischiofemoral Space? A Reliability Study
Boettcher, Brennan J. , Payne, Jeffrey M., Johnson, Adam C. , Finnoff, Jonathan T. , Hollman, John H.

PM&R | June 30, 2018 | Volume: 11 | Issue: 2 | Pages: 142-149

10.1016/j.pmrj.2018.06.014 | PMID 29964210 Get It

ObjectiveThe primary aim of this study was to determine the inter‐ and intrarater reliability of ultrasound (US) measurements of the ischiofemoral space (IFS) following a brief training session. A secondary aim was to determine if reliability correlated with sonographer experience.DesignProspective cohort study.SettingPhysical medicine and rehabilitation department within a tertiary care institution.ParticipantsSeven male and 3 female individuals were recruited to serve as models. Nine physician sonographers (3 postgraduate year [PGY]‐2 residents, 3 PGY‐4 residents, 3 physicians) were recruited to serve as sonographers.Methods or InterventionsSonographers received a 15‐minute educational session on identifying the IFS with US, followed by 20 minutes of practice. Models were then placed in a prone position and secured to prevent hip movement. All operators measured bilateral IFSs in each model twice with a washout period between measurements. Operators were blinded to all measurements.Main Outcome MeasuresPrimary outcomes were inter‐ and intrarater reliability interclass coefficients (ICCs) of IFS measurements among the groups with different levels of US experience. Secondary outcomes included comparisons of inter‐ and intrarater reliability ICCs of IFS measurements between groups, and the difference of mean IFS measurements between groups.ResultsIntrarater reliability ICCs were 0.829, 0.680, and 0.596 for physician, PGY‐4, and PGY‐2 groups, respectively. Interrater reliability ICCs were 0.722, 0.427, and 0.558 for physician, PGY‐4, and PGY‐2 groups, respectively. No statistically significant differences in reliability were identified between groups. Mean IFS measurements were 31.2, 33.4, and 34.0 mm for physician, PGY‐4, and PGY‐2 groups, respectively. Physician measurements were significantly smaller than the PGY‐4 and PGY‐2 measurements (P < .049 and P < .01).ConclusionsFollowing a brief training session, experienced sonographers demonstrated excellent IFS measurement intrarater reliability, whereas PGY‐4 and PGY‐2 sonographers demonstrated fair intrarater reliability. All sonographers demonstrated fair interrater reliability.Level of EvidenceII
A Case for Change in Adult Critical Care Training for Physicians in the United States: A White Paper Developed by the Critical Care as a Specialty Task Force of the Society of Critical Care Medicine*
Tisherman, Samuel A. , Spevetz, Antoinette, Blosser, Sandralee, Brown, Daniel R. , Chang, Cherylee W. J. , Efron, Philip A. , O’Connor, Michael , Sevransky, Jonathan, Wessman, Brian T. , Brown, Daniel

Critical Care Medicine | June 29, 2018 | Volume: 46 | Issue: 10 | Pages: 1577-1584

10.1097/ccm.0000000000003266 | PMID 30015669 Get It

Objectives: In the United States, physician training in Critical Care Medicine has developed as a subspecialty of different primary boards, despite significant commonality in knowledge and skills. The Society of Critical Care Medicine appointed a multidisciplinary Task Force to examine alternative approaches for future training. Design: The Task Force reviewed the literature and conducted informal discussions with key stakeholders. Specific topics reviewed included the history of critical care training, commonalities among subspecialties, developments since a similar review in 2004, international experience, quality patient care, and financial and workforce issues. Main Results: The Task Force believes that options for future training include establishment of a 1) primary specialty of critical care; 2) unified fellowship and certification process; or 3) unified certification process with separate fellowship programs within the current specialties versus 4) maintaining multiple specialty-based fellowship programs and certification processes. Conclusions: 1) Changing the current Critical Care Medicine training paradigms may benefit trainees and patient care. 2) Multiple pathways into critical care training for all interested trainees are desirable for meeting future intensivist workforce demands. 3) The current subspecialties within separate boards are not “distinct and well-defined field[s] of medical practice” per the American Board of Medical Specialties. Recommendations for first steps are as follows: 1) as the society representing multidisciplinary critical care, the Society of Critical Care Medicine has an opportunity to organize a meeting of all stakeholders to discuss the issues regarding Critical Care Medicine training and consider cooperative approaches for the future. 2) A common Critical Care Medicine examination, possibly with a small percentage of base-specialty–specific questions, should be considered. 3) Institutions with multiple Critical Care Medicine fellowship programs should consider developing joint, multidisciplinary training curricula. 4) The boards that offer Critical Care Medicine examinations, along with national critical care societies, should consider ways to shorten training time.
17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage
Devan, William J., Radmanesh, Farid , Miyares, Laura , Poterba, Timothy , Hansen, Björn M. , Jiménez-Conde, Jordi , Elosúa, Roberto , Cuadrado‐Godia, Elisa , Soriano‐Tárraga, Carolina , Roquer, Jaume , Kourkoulis, Christina , Schwab, Kristin , Tirschwell, David , Brown, Devin L. , Silliman, Scott, Worrall, Bradford B. , Kidwell, Chelsea S., Montaner, Joan , Delgado, Pilar , Greenberg, Steven M. , Matouk, Charles, Woo, Daniel , Anderson, Christopher D. , Falcone, Guido J. , Montaner, Joan , Marini, Sandro , Norrving, Bo , Giralt‐Steinhauer, Eva , Ayres, Alison M. , Selim, Magdy H. , Meschia, James F. , Fernández‐Cadenas, Israel , Lindgren, Arne G. , Sheth, Kevin N. , Rosand, Jonathan M.

Stroke | June 18, 2018 | Volume: 49 | Issue: 7 | Pages: 1618-1625

10.1161/strokeaha.117.020091 | PMID 29915124 Get It

Background and Purpose— Hematoma volume is an important determinant of clinical outcome in spontaneous intracerebral hemorrhage (ICH). We performed a genome-wide association study (GWAS) of hematoma volume with the aim of identifying novel biological pathways involved in the pathophysiology of primary brain injury in ICH. Methods— We conducted a 2-stage (discovery and replication) case-only genome-wide association study in patients with ICH of European ancestry. We utilized the admission head computed tomography to calculate hematoma volume via semiautomated computer-assisted technique. After quality control and imputation, 7 million genetic variants were available for association testing with ICH volume, which was performed separately in lobar and nonlobar ICH cases using linear regression. Signals with P <5×10 − 8 were pursued in replication and tested for association with admission Glasgow coma scale and 3-month post-ICH dichotomized (0–2 versus 3–6) modified Rankin Scale using ordinal and logistic regression, respectively. Results— The discovery phase included 394 ICH cases (228 lobar and 166 nonlobar) and identified 2 susceptibility loci: a genomic region on 22q13 encompassing PARVB (top single-nucleotide polymorphism rs9614326: β, 1.84; SE, 0.32; P =4.4×10 −8 ) for lobar ICH volume and an intergenic region overlying numerous copy number variants on 17p12 (top single-nucleotide polymorphism rs11655160: β, 0.95; SE, 0.17; P =4.3×10 −8 ) for nonlobar ICH volume. The replication included 240 ICH cases (71 lobar and 169 nonlobar) and corroborated the association for 17p12 ( P =0.04; meta-analysis P =2.5×10 −9 ; heterogeneity, P =0.16) but not for 22q13 ( P =0.49). In multivariable analysis, rs11655160 was also associated with lower admission Glasgow coma scale (odds ratio, 0.17; P =0.004) and increased risk of poor 3-month modified Rankin Scale (odds ratio, 1.94; P =0.045). Conclusions— We identified 17p12 as a novel susceptibility risk locus for hematoma volume, clinical severity, and functional outcome in nonlobar ICH. Replication in other ethnicities and follow-up translational studies are needed to elucidate the mechanism mediating the observed association.
Author response: Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes
Burrows, Courtney K. , Patterson, Kristen M, Serie, Daniel, Gilad, Yoav , Knowles, David A. , Blischak, John , Norton, Nadine , Ober, Carole , Pritchard, Jonathan K.

No container title available | June 15, 2018 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.7554/elife.33480.050 Get It

Therapeutic Strategies Following Major, Clinically Relevant Nonmajor, and Nuisance Bleeding in Atrial Fibrillation: Findings From ORBIT‐AF
O’Brien, Emily C. , Holmes, DaJuanicia N. , Thomas, Laine , Kowey, Peter R. , Ansell, Jack , Piccini, Jonathan P. , Fonarow, Gregg C. , Mahaffey, Kenneth W. , Gersh, Bernard J. , Peterson, Eric D. , Hylek, Elaine M.

Journal of the American Heart Association | June 9, 2018 | Volume: 7 | Issue: 12 | Pages: No page available

10.1161/jaha.117.006391 | PMID 29886422 Get It

Background Oral anticoagulation ( OAC ) reduces stroke risk in atrial fibrillation, but bleeding is a frequent side effect. The decision to discontinue or modify medication regimens in response to a bleeding event may differ according to bleeding site and severity. Methods and Results We used data from a large, national outpatient registry, ORBIT ‐ AF (Outcomes Registry for Better Informed Treatment of Atrial Fibrillation; 2010–2011), to evaluate event characteristics and OAC management following the first bleeding event occurring during follow‐up. Bleeding events were classified into 3 categories: (1) International Society of Thrombosis and Hemostasis major bleeding, (2) clinically relevant nonmajor bleeding requiring medical attention, and (3) nuisance bleeding not requiring medical attention (eg, bruising, hemorrhoidal bleeding). Of 9743 patients enrolled in ORBIT ‐ AF with follow‐up data, 510 (3.23/100 subject‐years) experienced a major bleed, 615 (3.90/100 subject‐years), experienced a clinically relevant nonmajor bleed, and 1558 (9.87/100 subject‐years) experienced a nuisance bleed, among first bleeds over 2 years. Nearly one third of patients (31.6%) discontinued OAC therapy following a major bleeding event, 12.7% following a clinically relevant nonmajor bleed, and 4.5% following a nuisance bleed. Compared with those who experienced a clinically relevant nonmajor or nuisance bleed, patients who experienced a major bleed were more likely to be black and female and to have a history of heart failure and stroke. Those who discontinued were more likely to have central nervous system or gastrointestinal bleeding than those who persisted on OAC therapy. Conclusions Overall, 1 in 3 patients who experienced a major bleed was no longer anticoagulated after the event. Those who discontinued OAC were more likely to have central nervous system or gastrointestinal bleeding than those who persisted on OAC .