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JOURNAL ARTICLE
Sarah Ep Munce, Carolyn Steele Gray, Beverley Claire Pomeroy, Mark Bayley, Kristina Marie Kokorelias, Dorothy Luong, Elaine Biddiss, Trish Cave, Peter Bragge, Carolyn A Chew-Graham, Heather Colquhoun, Ann Dadich, Katie N Dainty, Mark Elliott, Patrick Feng, Jodeme Goldhar, Clayon B Hamilton, Gillian Harvey, Monika Kastner, Anita Kothari, Joe Langley, Lianne Jeffs, Daniel Masterson, Michelle LA Nelson, Laure Perrier, John Riley, Kate Sellen, Emily Seto, Robert Simpson, Sophie Staniszewska, Vasanthi Srinivasan, Sharon E Straus, Andrea C Tricco, Kerry Kuluski
BACKGROUND: There is increasing evidence that co-design can lead to more engaging, acceptable, relevant, feasible, and even effective interventions. However, no guidance is provided on the specific designs and associated methods or methodologies involved in the process. We propose the development of the Preferred Components for Co-design in Research (PRECISE) guideline to enhance the consistency, transparency, and quality of reporting co-design studies used to develop complex health interventions...
October 30, 2023: JMIR Research Protocols
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JOURNAL ARTICLE
Sandra Pong, Robert A Fowler, Patricia Fontela, Elaine Gilfoyle, James S Hutchison, Philippe Jouvet, Nicholas Mitsakakis, Srinivas Murthy, Jeffrey M Pernica, Asgar H Rishu, Michelle Science, Winnie Seto, Nick Daneman
BACKGROUND: Bloodstream infections (BSIs) are associated with significant mortality and morbidity, including multiple organ dysfunction. We explored if delayed adequate antimicrobial treatment for children with BSIs is associated with change in organ dysfunction as measured by PELOD-2 scores. METHODS: We conducted a multicenter, retrospective cohort study of critically ill children <18 years old with BSIs. The primary outcome was change in PELOD-2 score between days 1 (index blood culture) and 5...
October 16, 2023: Pediatric Research
#3
JOURNAL ARTICLE
Vijay M Ravindra, Lucia Ruggieri, Nisha Gadgil, Angela P Addison, Ilana Patino, David D Gonda, Jason Chu, Laura Whitehead, Anne Anderson, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Audrey Nath, Michael Quach, James John Riviello, Elaine Seto, Krystal Elizabeth Sully, Latanya Agurs, Sonali Sen, Maureen Handoko, Rohini Coorg, Irfan Ali, Daniel Ikeda, Howard Weiner, Daniel J Curry
INTRODUCTION: In carefully selected patients with medically refractory epilepsy, disconnective hemispherotomy can result in significant seizure freedom; however, incomplete disconnection can result in ongoing seizures and poses a significant challenge. Completion hemispherotomy provides an opportunity to finish the disconnection. We describe the use of magnetic resonance-guided laser interstitial thermal ablation (MRgLITT) for completion hemispherotomy. METHODS: Patients treated with completion hemispherotomy using MRgLITT at our institution were identified...
2023: Stereotactic and Functional Neurosurgery
#4
Melina L Corriveau, Sabrina I Amaya, Mary Clare Koebel, Vanesa C Lerma, Sydney L Michener, Alicia Turner, Rebecca J Schultz, Elaine S Seto, Gloria E Diaz-Medina, William J Craigen, John W Swann, Mingshan Xue, Hsiao-Tuan Chao
The p-21-activated kinase 1 (PAK1) protein, encoded by the PAK1 gene, is an evolutionarily conserved serine/threonine-protein kinase that regulates key cellular developmental processes. To date, seven de novo PAK1 variants have been reported to cause the Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD). In addition to the namesake features, other common characteristics include structural brain anomalies, delayed development, hypotonia, and dysmorphic features. Here, we report a de novo PAK1 NM_002576...
March 10, 2023: American Journal of Medical Genetics. Part A
#5
JOURNAL ARTICLE
Vijay M Ravindra, Patrick J Karas, Tyler T Lazaro, Rohini Coorg, Al-Wala Awad, Ilana Patino, Emily E McClernon, Dave Clarke, Laura Cairampoma Whitehead, Anne Anderson, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Audrey Nath, Michael Quach, James Riviello, Elaine S Seto, Krystal Sully, Latanya Agurs, Sonali Sen, Maureen Handoko, Melissa LoPresti, Irfan Ali, Daniel J Curry, Howard L Weiner
BACKGROUND: Surgery has become integral in treating children with tuberous sclerosis complex (TSC)-related drug-resistant epilepsy (DRE). OBJECTIVE: To describe outcomes of a multimodal diagnostic and therapeutic approach comprising invasive intracranial monitoring and surgical treatment and compare the complementary techniques of open resection and magnetic resonance-guided laser interstitial thermal therapy. METHODS: Clinical and radiographic data were prospectively collected for pediatric patients undergoing surgical evaluation for TSC-related DRE at our tertiary academic hospital...
February 1, 2023: Neurosurgery
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JOURNAL ARTICLE
Sandra Pong, Robert A Fowler, Srinivas Murthy, Jeffrey M Pernica, Elaine Gilfoyle, Patricia Fontela, Nicholas Mitsakakis, Asha C Bowen, Winnie Seto, Michelle Science, James S Hutchison, Philippe Jouvet, Asgar Rishu, Nick Daneman
OBJECTIVE: To describe antibiotic treatment durations that pediatric infectious diseases (ID) and critical care clinicians usually recommend for bloodstream infections in critically ill children. DESIGN: Anonymous, online practice survey using five common pediatric-based case scenarios of bloodstream infections. SETTING: Pediatric intensive care units in Canada, Australia and New Zealand. PARTICIPANTS: Pediatric intensivists, nurse practitioners, ID physicians and pharmacists...
2022: PloS One
#7
JOURNAL ARTICLE
Sandra Pong, Robert A Fowler, Nicholas Mitsakakis, Srinivas Murthy, Jeffrey M Pernica, Elaine Gilfoyle, Asha Bowen, Patricia Fontela, Winnie Seto, Michelle Science, James S Hutchison, Philippe Jouvet, Asgar Rishu, Nick Daneman
OBJECTIVES: We used modified contingent valuation methodology to determine how noninferiority margin sizes influence clinicians' willingness to accept clinical trial results that compare mortality in critically ill children. METHODS: We surveyed pediatric infectious diseases and critical care clinicians in Canada, Australia, and New Zealand and randomized respondents to review 1 of 9 mock abstracts describing a noninferiority trial of bacteremic critically ill children assigned to 7 or 14 d of antibiotics...
May 18, 2022: Medical Decision Making: An International Journal of the Society for Medical Decision Making
#8
MULTICENTER STUDY
Sandra Pong, Robert A Fowler, Srinivas Murthy, Jeffrey M Pernica, Elaine Gilfoyle, Patricia Fontela, Asgar H Rishu, Nicholas Mitsakakis, James S Hutchison, Michelle Science, Winnie Seto, Philippe Jouvet, Nick Daneman
BACKGROUND: Bloodstream infections (BSIs) cause significant morbidity and mortality in critically ill children but treatment duration is understudied. We describe the durations of antimicrobial treatment that critically ill children receive and explore factors associated with treatment duration. METHODS: We conducted a retrospective observational cohort study in six pediatric intensive care units (PICUs) across Canada. Associations between treatment duration and patient-, infection- and pathogen-related characteristics were explored using multivariable regression analyses...
April 5, 2022: BMC Pediatrics
#9
REVIEW
Elaine S Seto, Rohini Coorg
Drug-resistant epilepsy warrants referral to an epilepsy surgery center for consideration of alternative treatments including epilepsy surgery. Advances in technology now allow for minimally invasive neurophysiologic monitoring and surgical interventions, approaches that are attractive to families because large craniotomies and associated morbidity are avoided. This work reviews the presurgical evaluation process and discusses the use of invasive stereo-electroencephalography monitoring to localize seizure onset zones...
August 2021: Neurologic Clinics
#10
JOURNAL ARTICLE
Hillary K Graves, Sharayu Jangam, Kai Li Tan, Antonella Pignata, Elaine S Seto, Shinya Yamamoto, Michael F Wangler
Peroxisomes are subcellular organelles that are essential for proper function of eukaryotic cells. In addition to being the sites of a variety of oxidative reactions, they are crucial regulators of lipid metabolism. Peroxisome loss or dysfunction leads to multi-system diseases in humans that strongly affect the nervous system. In order to identify previously unidentified genes and mechanisms that impact peroxisomes, we conducted a genetic screen on a collection of lethal mutations on the X chromosome in Drosophila Using the number, size and morphology of GFP tagged peroxisomes as a readout, we screened for mutations that altered peroxisomes based on clonal analysis and confocal microscopy...
November 25, 2019: G3: Genes—Genomes—Genetics
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JOURNAL ARTICLE
Tayla B Heavican, Alyssa Bouska, Jiayu Yu, Waseem Lone, Catalina Amador, Qiang Gong, Weiwei Zhang, Yuping Li, Bhavana J Dave, Maarja-Liisa Nairismägi, Timothy C Greiner, Julie Vose, Dennis D Weisenburger, Cynthia Lachel, Chao Wang, Kai Fu, Jadd M Stevens, Soon Thye Lim, Choon Kiat Ong, Randy D Gascoyne, Edoardo Missiaglia, Francois Lemonnier, Corinne Haioun, Sylvia Hartmann, Martin Bjerregård Pedersen, Maria Antonella Laginestra, Ryan A Wilcox, Bin Tean Teh, Noriaki Yoshida, Koichi Ohshima, Masao Seto, Andreas Rosenwald, German Ott, Elias Campo, Lisa M Rimsza, Elaine S Jaffe, Rita M Braziel, Francesco d'Amore, Giorgio Inghirami, Francesco Bertoni, Laurence de Leval, Philippe Gaulard, Louis M Staudt, Timothy W McKeithan, Stefano Pileri, Wing C Chan, Javeed Iqbal
Peripheral T-cell lymphoma (PTCL) is a group of complex clinicopathological entities, often associated with an aggressive clinical course. Angioimmunoblastic T-cell lymphoma (AITL) and PTCL-not otherwise specified (PTCL-NOS) are the 2 most frequent categories, accounting for >50% of PTCLs. Gene expression profiling (GEP) defined molecular signatures for AITL and delineated biological and prognostic subgroups within PTCL-NOS (PTCL-GATA3 and PTCL-TBX21). Genomic copy number (CN) analysis and targeted sequencing of these molecular subgroups revealed unique CN abnormalities (CNAs) and oncogenic pathways, indicating distinct oncogenic evolution...
April 11, 2019: Blood
#12
JOURNAL ARTICLE
Su Liu, Michael M Quach, Daniel J Curry, Monika Ummat, Elaine Seto, Nuri F Ince
Epilepsy associated with cavernous malformation (CM) often requires surgical resection of seizure focus to achieve seizure-free outcome. High-frequency oscillations (HFOs) in intracranial electroencephalogram (EEG) are reported as potential biomarkers of epileptogenic regions, but to our knowledge there are no data on the existence of HFOs in CM-caused epilepsy. Here we report our experience of the identification of the seizure focus in a 3-year-old pediatric patient with intractable epilepsy associated with CM...
June 2017: Epilepsia Open
#13
MULTICENTER STUDY
Elaine Lau, Jason Brophy, Lindy Samson, Fatima Kakkar, Douglas M Campbell, Mark H Yudin, Kellie Murphy, Winnie Seto, David Colantonio, Stanley E Read, Ari Bitnun
BACKGROUND: Nevirapine (NVP)-based combination antiretroviral therapy is routinely prescribed to infants deemed at high risk of vertical HIV infection in our centers. We evaluated NVP pharmacokinetics and safety of this regimen. METHODS: Neonates were recruited prospectively between September 2012 and April 2015 or enrolled retrospectively if treated similarly before prospective study initiation. NVP was dosed at 150 mg/m daily for 14 days, then twice daily for 14 days...
April 15, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
#14
JOURNAL ARTICLE
Carlos Bacino, Yu-Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O Jones, Ann Moser, Michael F Wangler
This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient׳s peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided...
March 2016: Data in Brief
#15
Carlos Bacino, Yu-Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O Jones, Ann Moser, Michael F Wangler
We present a patient with a unique neurological phenotype with a progressive neurodegenerative phenotype. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous PEX16 mutation suggesting an atypical peroxisomal biogenesis disorder (PBD). Interestingly, the patient's peroxisomal biochemical abnormalities were subtle, such that plasma very-long-chain fatty acids initially failed to provide a diagnosis. This case suggests next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders...
December 1, 2015: Molecular Genetics and Metabolism Reports
#16
REVIEW
Dopamine dynamics and signaling in Drosophila: an overview of genes, drugs and behavioral paradigms.
Shinya Yamamoto, Elaine S Seto
Changes in dopamine (DA) signaling have been implicated in a number of human neurologic and psychiatric disorders. Similarly, defects in DA signaling in the fruit fly, Drosophila melanogaster, have also been associated with several behavioral defects. As most genes involved in DA synthesis, transport, secretion, and signaling are conserved between species, Drosophila is a powerful genetic model organism to study the regulation of DA signaling in vivo. In this review, we will provide an overview of the genes and drugs that regulate DA biology in Drosophila...
2014: Experimental Animals
#17
JOURNAL ARTICLE
Javeed Iqbal, George Wright, Chao Wang, Andreas Rosenwald, Randy D Gascoyne, Dennis D Weisenburger, Timothy C Greiner, Lynette Smith, Shuangping Guo, Ryan A Wilcox, Bin Tean Teh, Soon Thye Lim, Soon Yong Tan, Lisa M Rimsza, Elaine S Jaffe, Elias Campo, Antonio Martinez, Jan Delabie, Rita M Braziel, James R Cook, Raymond R Tubbs, German Ott, Eva Geissinger, Philippe Gaulard, Pier Paolo Piccaluga, Stefano A Pileri, Wing Y Au, Shigeo Nakamura, Masao Seto, Francoise Berger, Laurence de Leval, Joseph M Connors, James Armitage, Julie Vose, Wing C Chan, Louis M Staudt
Peripheral T-cell lymphoma (PTCL) encompasses a heterogeneous group of neoplasms with generally poor clinical outcome. Currently 50% of PTCL cases are not classifiable: PTCL-not otherwise specified (NOS). Gene-expression profiles on 372 PTCL cases were analyzed and robust molecular classifiers and oncogenic pathways that reflect the pathobiology of tumor cells and their microenvironment were identified for major PTCL-entities, including 114 angioimmunoblastic T-cell lymphoma (AITL), 31 anaplastic lymphoma kinase (ALK)-positive and 48 ALK-negative anaplastic large cell lymphoma, 14 adult T-cell leukemia/lymphoma and 44 extranodal NK/T-cell lymphoma that were further separated into NK-cell and gdT-cell lymphomas...
May 8, 2014: Blood
#18
JOURNAL ARTICLE
Ekaterina Blinova, Elaine Lau, Ari Bitnun, Peter Cox, Steven Schwartz, Eshetu Atenafu, Yvonne Yau, Laurie Streitenberger, Christopher S Parshuram, John Marshall, Winnie Seto
OBJECTIVES: To determine the rate of documented infections and prevalence of antimicrobial use among pediatric patients admitted to the PICU. To assess the appropriateness of antimicrobial prescribing according to clinical and microbiological findings, Infectious Disease Consult recommendations, and formulary guidelines. DESIGN: Prospective point prevalence study. SETTING: Cardiac and medical-surgical critical care units (CCCU-PICU) in a tertiary care pediatric teaching hospital in Toronto, Canada...
July 2013: Pediatric Critical Care Medicine
#19
JOURNAL ARTICLE
Elaine H Lim, Shen-Li Zhang, Jia-Liang Li, Wee-See Yap, Tse-Chiang Howe, Bien-Peng Tan, Yong-Shyan Lee, Daniel Wong, Kay-Leong Khoo, Kar-Yin Seto, Lenny Tan, Thirugananam Agasthian, Heng-Nung Koong, John Tam, Christie Tan, Michael Caleb, Alex Chang, Alan Ng, Patrick Tan
BACKGROUND: Progression of non-small cell lung cancer (NSCLC) from early- to late-stage may signify the accumulation of gene mutations. An advanced-stage tumor's mutation profile may also have prognostic value, guiding treatment decisions. Mutation detection of multiple genes is limited by the low amount of deoxyribonucleic acid extracted from low-volume diagnostic lung biopsies. We explored whole genome amplification (WGA) to enable multiple molecular analyses. METHODS: Eighty-eight advanced-stage NSCLC patients were enrolled...
January 2009: Journal of Thoracic Oncology
#20
JOURNAL ARTICLE
Elaine H Lim, Shen-Li Zhang, Kun Yu, Min-En Nga, Dokeu A Ahmed, Thirugananam Agasthian, Poo-Sing Wong, Gim-Chuah Chua, Daniel Wong, Lenny Tan, Kar-Yin Seto, Wee-See Yap, Seow-Ping Low, Kay-Leong Khoo, Alex Chang, Alan Ng, Patrick Tan
BACKGROUND: Accurate mutational analysis, especially epidermal growth factor receptor (EGFR) mutations, of diagnostic biopsies from all Asian NSCLC patients is crucial to their clinical management, but faces problems. Here, we explore, within usual hospital constraints, the practicalities of incorporating mutational analysis in every newly diagnosed case of NSCLC, namely, maximizing tissue acquisition during the diagnostic procedure and determining the maximum quantity and quality of DNA sequence data available from these biopsies...
May 2007: Journal of Thoracic Oncology
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