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Articles 1441 - 1470 of 2904
Full-Text Articles in Medicine and Health Sciences
Parental Quality Of Life 10 Years After Their Child’S Epilepsy Diagnosis, Klajdi Puka, Kathy Nixon Speechley
Parental Quality Of Life 10 Years After Their Child’S Epilepsy Diagnosis, Klajdi Puka, Kathy Nixon Speechley
Western Research Forum
Background: Although the long-term course of childhood epilepsy is favorable in terms of seizure control, patients often face debilitating cognitive and psychosocial deficits that persist even after seizure remission. Pediatric epilepsy also has a large impact on the family and has been shown to be associated with diminished quality of life (QOL) among parents. However, the long-term outcome of parental QOL is unknown. This study aimed to 1) evaluate parental QOL 10 years after their child was diagnosed with epilepsy and 2) identify epilepsy-, child- and family-related characteristics associated with diminished parental QOL.
Methods: Data were derived …
Pulmonary Surfactant Fortified With Cath-2 As A Novel Therapy For Bacterial Pneumonia, Brandon J. Baer
Pulmonary Surfactant Fortified With Cath-2 As A Novel Therapy For Bacterial Pneumonia, Brandon J. Baer
Western Research Forum
Background: Bacterial pneumonia is a leading cause of death worldwide, with high mortality rates persisting even after antibiotic treatment. Current treatments for pneumonia involve administration of antibiotics, however after the bacteria are killed they release toxic substances that induce inflammation and lung dysfunction. Host defense peptides represent a potential solution to this problem through their ability to down regulate inflammation. However, effective delivery to the lung is difficult because of the complex branching structure of the airways. My study addresses this delivery problem by using exogenous surfactant, a pulmonary delivery vehicle capable of improving spreading of these peptides throughout the …
The Effects Of Intrauterine Growth Restriction (Iugr) On The Pulmonary Surfactant And Lung Injury, Reza Khazaee
The Effects Of Intrauterine Growth Restriction (Iugr) On The Pulmonary Surfactant And Lung Injury, Reza Khazaee
Western Research Forum
The Effects of Intrauterine Growth Restriction (IUGR) on the Pulmonary Surfactant and Lung Injury
Khazaee R1, McCaig LA2, Hardy D1, Yamashita CM2, Veldhuizen, RAW2
Department of Physiology and Pharmacology1, Western University, London, ON, Canada. Lawson Health Research Institute2, London, ON, Canada
Background: Acute respiratory distress syndrome (ARDS) is defined as severe lung dysfunction that occurs after an insult to the lung such as an infection. The lung dysfunction in ARDS is due to alterations to surfactant, a lipid-protein mixture coats the inside of the lung and …
Measurement Properties Of Paindetect: Rasch Analysis Of Responses From Community-Dwelling Adults With Neuropathic Pain, Tara L. Packham, Joseph C. Cappelleri, Alesia Sadosky, Joy C. Macdermid, Florian Brunner
Measurement Properties Of Paindetect: Rasch Analysis Of Responses From Community-Dwelling Adults With Neuropathic Pain, Tara L. Packham, Joseph C. Cappelleri, Alesia Sadosky, Joy C. Macdermid, Florian Brunner
Bone and Joint Institute
© 2017 The Author(s). Background: painDETECT (PD-Q) is a self-reported assessment of pain qualities developed as a screening tool for pain of neuropathic origin. Rasch analysis is a strategy for examining the measurement characteristics of a scale using a form of item response theory. We conducted a Rasch analysis to consider if the scoring and measurement properties of PD-Q would support its use as an outcome measure. Methods: Rasch analysis was conducted on PD-Q scores drawn from a cross-sectional study of the burden and costs of NeP. The analysis followed an iterative process based on recommendations in the literature, including …
Mri Ventilation Abnormalities Predict Quality-Of-Life And Lung Function Changes In Mild-To-Moderate Copd: Longitudinal Tincan Study, Miranda Kirby, Rachel L Eddy, Damien Pike, Sarah Svenningsen, Harvey O Coxson, Don D Sin, David G Mccormack, Grace Parraga
Mri Ventilation Abnormalities Predict Quality-Of-Life And Lung Function Changes In Mild-To-Moderate Copd: Longitudinal Tincan Study, Miranda Kirby, Rachel L Eddy, Damien Pike, Sarah Svenningsen, Harvey O Coxson, Don D Sin, David G Mccormack, Grace Parraga
Medical Biophysics Publications
CT biomarkers of emphysema (15th percentile of the CT density histogram, HU15%) and airways disease (wall thickness of airways with 10 mm internal perimeter, Pi10) have shown promise for providing prognostic information.2 Although recent data3 showed that the change in CT emphysema may be used to estimate the efficacy of therapy in patients with α-1-antitrypsin-deficiency, thus far none of the currently developed CT biomarkers have been shown to reflect changes in outcomes that are important to patients with COPD. MRI with inhaled noble gases provide highly sensitive and unique microstructural and functional information in COPD.4 MRI biomarkers of COPD are …
A Method For Independent Component Graph Analysis Of Resting-State Fmri, Demetrius Ribeiro De Paula, Erik Ziegler, Pubuditha M. Abeyasinghe, Tushar K. Das
A Method For Independent Component Graph Analysis Of Resting-State Fmri, Demetrius Ribeiro De Paula, Erik Ziegler, Pubuditha M. Abeyasinghe, Tushar K. Das
Anatomy and Cell Biology Publications
Introduction: Independent component analysis (ICA) has been extensively used for reducing task-free BOLD fMRI recordings into spatial maps and their associated time-courses. The spatially identified independent components can be considered as intrinsic connectivity networks (ICNs) of non-contiguous regions. To date, the spatial patterns of the networks have been analyzed with techniques developed for volumetric data. Objective: Here, we detail a graph building technique that allows these ICNs to be analyzed with graph theory. Methods: First, ICA was performed at the single-subject level in 15 healthy volunteers using a 3T MRI scanner. The identification of nine networks was performed by a …
Eligibility For Minimally Invasive Coronary Artery Bypass Examination Of Epicardial Adipose Tissue Using Computed Tomography, Kate E. M. Dillon, Marjorie Johnson, Bob Kiaii
Eligibility For Minimally Invasive Coronary Artery Bypass Examination Of Epicardial Adipose Tissue Using Computed Tomography, Kate E. M. Dillon, Marjorie Johnson, Bob Kiaii
Anatomy and Cell Biology Publications
Objective: A variable that necessitates conversion to a conventional full-sternotomy coronary artery bypass procedure from a robotic-assisted endoscopic single-vessel small thoracotomy is the inability to visualize the left anterior descending coronary artery within the surrounding epicardial adipose tissue using the endoscopic camera. The purpose of this study was to determine whether anatomical properties of the epicardial adipose tissue examined using preoperative computed tomography (CT) images are able to predict and thus reduce the need for intraoperative conversion based on effective preoperative exclusion criteria. Methods: Retrospective analysis of patient preoperative CT angiography scans from both converted (n = 17) and successful …
Guideline For The Prevention Of Oral And Oropharyngeal Mucositis In Children Receiving Treatment For Cancer Or Undergoing Haematopoietic Stem Cell Transplantation, Lillian Sung, Paula Robinson, Nathaniel Treister, Tina Baggott, Paul Gibson, Wim Tissing, John Wiernikowski, Jennifer Brinklow, L Lee Dupuis
Guideline For The Prevention Of Oral And Oropharyngeal Mucositis In Children Receiving Treatment For Cancer Or Undergoing Haematopoietic Stem Cell Transplantation, Lillian Sung, Paula Robinson, Nathaniel Treister, Tina Baggott, Paul Gibson, Wim Tissing, John Wiernikowski, Jennifer Brinklow, L Lee Dupuis
Paediatrics Publications
PURPOSE: To develop an evidence-based clinical practice guideline for the prevention of oral mucositis in children (0-18 years) receiving treatment for cancer or undergoing haematopoietic stem cell transplantation (HSCT).
METHODS: The Mucositis Prevention Guideline Development Group was interdisciplinary and included internationally recognised experts in paediatric mucositis. For the evidence review, we included randomised controlled trials (RCTs) conducted in either children or adults evaluating the following interventions selected according to prespecified criteria: cryotherapy, low level light therapy (LLLT) and keratinocyte growth factor (KGF). We also examined RCTs of any intervention conducted in children. For all systematic reviews, we synthesised the occurrence …
Adaptable Categorization Of Hands And Tools In Prosthesis Users., Fiona M Z Van Den Heiligenberg, Nick Yeung, Peter Brugger, Jody C Culham, Tamar R Makin
Adaptable Categorization Of Hands And Tools In Prosthesis Users., Fiona M Z Van Den Heiligenberg, Nick Yeung, Peter Brugger, Jody C Culham, Tamar R Makin
Brain and Mind Institute Researchers' Publications
No abstract provided.
Corrigendum To "Overlapping And Distinct Brain Regions Involved In Estimating The Spatial Position Of Numerical And Non-Numerical Magnitudes: An Fmri Study" [Neuropsychologia 51(5) (2013) 979-989], Stephan E. Vogel, Roland H. Grabner, Michael Schneider, Robert S. Siegler, Daniel Ansari
Corrigendum To "Overlapping And Distinct Brain Regions Involved In Estimating The Spatial Position Of Numerical And Non-Numerical Magnitudes: An Fmri Study" [Neuropsychologia 51(5) (2013) 979-989], Stephan E. Vogel, Roland H. Grabner, Michael Schneider, Robert S. Siegler, Daniel Ansari
Brain and Mind Institute Researchers' Publications
No abstract provided.
Evaluation Of Treatment-Related Mortality Among Paediatric Cancer Deaths: A Population Based Analysis., Jason D Pole, Paul Gibson, Marie-Chantal Ethier, Tanya Lazor, Donna L Johnston, Carol Portwine, Mariana Silva, Sarah Alexander, Lillian Sung
Evaluation Of Treatment-Related Mortality Among Paediatric Cancer Deaths: A Population Based Analysis., Jason D Pole, Paul Gibson, Marie-Chantal Ethier, Tanya Lazor, Donna L Johnston, Carol Portwine, Mariana Silva, Sarah Alexander, Lillian Sung
Paediatrics Publications
BACKGROUND: Objectives were to describe the proportion of deaths due to treatment-related mortality (TRM) and to identify risk factors and probable causes of TRM among paediatric cancer deaths in a population-based cohort.
METHODS: We included children with cancer ⩽18 years diagnosed and treated in Ontario who died between January 2003 and December 2012. Deaths were identified using a provincial registry, the Pediatric Oncology Group of Ontario Networked Information System. Probable causes of TRM were described.
RESULTS: Among the 964 deaths identified, 821 were included. The median age at diagnosis was 6.6 years (range 0-18.8) and 51.8% had at least one …
Quantitative Assessment Of White Matter Injury In Preterm Neonates: Association With Outcomes., Ting Guo, Emma G Duerden, Elysia Adams, Vann Chau, Helen M Branson, M Mallar Chakravarty, Kenneth J Poskitt, Anne Synnes, Ruth E Grunau, Steven P Miller
Quantitative Assessment Of White Matter Injury In Preterm Neonates: Association With Outcomes., Ting Guo, Emma G Duerden, Elysia Adams, Vann Chau, Helen M Branson, M Mallar Chakravarty, Kenneth J Poskitt, Anne Synnes, Ruth E Grunau, Steven P Miller
Brain and Mind Institute Researchers' Publications
OBJECTIVE: To quantitatively assess white matter injury (WMI) volume and location in very preterm neonates, and to examine the association of lesion volume and location with 18-month neurodevelopmental outcomes.
METHODS: Volume and location of WMI was quantified on MRI in 216 neonates (median gestational age 27.9 weeks) who had motor, cognitive, and language assessments at 18 months corrected age (CA). Neonates were scanned at 32.1 postmenstrual weeks (median) and 68 (31.5%) had WMI; of 66 survivors, 58 (87.9%) had MRI and 18-month outcomes. WMI was manually segmented and transformed into a common image space, accounting for intersubject anatomical variability. Probability …
Mosaic Expression Of Atrx In The Mouse Central Nervous System Causes Memory Deficits, Renee J Tamming, Jennifer R Siu, Yan Jiang, Marco A M Prado, Frank Beier, Nathalie G Bérubé
Mosaic Expression Of Atrx In The Mouse Central Nervous System Causes Memory Deficits, Renee J Tamming, Jennifer R Siu, Yan Jiang, Marco A M Prado, Frank Beier, Nathalie G Bérubé
Paediatrics Publications
The rapid modulation of chromatin organization is thought to play a crucial role in cognitive processes such as memory consolidation. This is supported in part by the dysregulation of many chromatin-remodelling proteins in neurodevelopmental and psychiatric disorders. A key example is ATRX, an X-linked gene commonly mutated in individuals with syndromic and nonsyndromic intellectual disability. The consequences of Atrx inactivation for learning and memory have been difficult to evaluate because of the early lethality of hemizygous-null animals. In this study, we evaluated the outcome of brain-specific Atrx deletion in heterozygous female mice. These mice exhibit a mosaic pattern of ATRX …
Antegrade Versus Retrograde Nailing Techniques And Trochanteric Versus Piriformis Intramedullary Nailing Entry Points For Femoral Shaft Fractures: A Systematic Review And Meta-Analysis, Nasir Hussain, Farrah Naz Hussain, Corey Sermer, Hera Kamdar, Emil H. Schemitsch, Amir Sternheim, Paul Kuzyk
Antegrade Versus Retrograde Nailing Techniques And Trochanteric Versus Piriformis Intramedullary Nailing Entry Points For Femoral Shaft Fractures: A Systematic Review And Meta-Analysis, Nasir Hussain, Farrah Naz Hussain, Corey Sermer, Hera Kamdar, Emil H. Schemitsch, Amir Sternheim, Paul Kuzyk
Bone and Joint Institute
© 2017 Joule Inc. or its licensors. Background: There are several different techniques commonly used to perform intramedullary (IM) nailing of the femur to fix femoral fractures. We sought to identify significant differences in outcomes of studies comparing 1) trochanteric and piriformis entry and 2) antegrade and retrograde entry in IM nailing of the femur. Methods: We searched MEDLINE, Cochrane and Embase databases and the Orthopaedic Trauma Association and American Academy of Orthopaedic Surgeons websites for comparative studies published from inception to November 2015. Criteria used to select articles for detailed review included use of antegrade and retrograde entry point …
Adolescent Cannabinoid Exposure Induces A Persistent Sub-Cortical Hyper-Dopaminergic State And Associated Molecular Adaptations In The Prefrontal Cortex., Justine Renard, Laura G Rosen, Michael Loureiro, Cleusa De Oliveira, Susanne Schmid, Walter J Rushlow, Steven R Laviolette
Adolescent Cannabinoid Exposure Induces A Persistent Sub-Cortical Hyper-Dopaminergic State And Associated Molecular Adaptations In The Prefrontal Cortex., Justine Renard, Laura G Rosen, Michael Loureiro, Cleusa De Oliveira, Susanne Schmid, Walter J Rushlow, Steven R Laviolette
Brain and Mind Institute Researchers' Publications
Considerable evidence suggests that adolescent exposure to delta-9-tetrahydrocanabinol (THC), the psychoactive component in marijuana, increases the risk of developing schizophrenia-related symptoms in early adulthood. In the present study, we used a combination of behavioral and molecular analyses with in vivo neuronal electrophysiology to compare the long-term effects of adolescent versus adulthood THC exposure in rats. We report that adolescent, but not adult, THC exposure induces long-term neuropsychiatric-like phenotypes similar to those observed in clinical populations. Thus, adolescent THC exposure induced behavioral abnormalities resembling positive and negative schizophrenia-related endophenotypes and a state of neuronal hyperactivity in the mesocorticolimbic dopamine (DA) pathway. …
Skilled Adult Readers Activate The Meanings Of High-Frequency Words Using Phonology: Evidence From Eye Tracking., Debra Jared, Katrina O'Donnell
Skilled Adult Readers Activate The Meanings Of High-Frequency Words Using Phonology: Evidence From Eye Tracking., Debra Jared, Katrina O'Donnell
Brain and Mind Institute Researchers' Publications
We examined whether highly skilled adult readers activate the meanings of high-frequency words using phonology when reading sentences for meaning. A homophone-error paradigm was used. Sentences were written to fit 1 member of a homophone pair, and then 2 other versions were created in which the homophone was replaced by its mate or a spelling-control word. The error words were all high-frequency words, and the correct homophones were either higher-frequency words or low-frequency words-that is, the homophone errors were either the subordinate or dominant member of the pair. Participants read sentences as their eye movements were tracked. When the high-frequency …
Guideline For Radiotherapy With Curative Intent In Patients With Early-Stage Medically Inoperable Non-Small-Cell Lung Cancer, Conrad Falkson, E Vella, Edward Yu, M El-Mallah, R Mackenzie, P Ellis, Y Ung
Guideline For Radiotherapy With Curative Intent In Patients With Early-Stage Medically Inoperable Non-Small-Cell Lung Cancer, Conrad Falkson, E Vella, Edward Yu, M El-Mallah, R Mackenzie, P Ellis, Y Ung
Data and Test Instruments
ABSTRACTObjectives For this guideline, we investigated the effectiveness of radiotherapy with curative intent in medicallyinoperable patients with early-stage non-small-cell lung cancer (nsclc).Methods The guideline was developed by Cancer Care Ontario’s Program in Evidence-Based Care and by theLung Cancer Disease Site Group through a systematic review of mainly retrospective studies, expert consensus, andformal internal and external reviews.Recommendations Stereotactic body radiation therapy (sbrt) with curative intent is an option that should be considered for patientswith early-stage, node-negative, medically inoperable nsclc.Qualifying Statements Because of the high dose per fraction, the planning process and treatment delivery for sbrt require theuse of advanced technology to …
Accuracy Of Seizure Identification By Critical Care Providers Using Quantitative Eeg Displays, Saptharishi Lalgudi Ganesan, Craig Stewart, Eshetu Atenafu, Roy Sharma, Jamie Hutchison, Anne-Marie Guerguerian, Cecil Hahn
Accuracy Of Seizure Identification By Critical Care Providers Using Quantitative Eeg Displays, Saptharishi Lalgudi Ganesan, Craig Stewart, Eshetu Atenafu, Roy Sharma, Jamie Hutchison, Anne-Marie Guerguerian, Cecil Hahn
Data and Test Instruments
No abstract provided.
Current Methods Of Evaluating Speech-Language Outcomes For Preschoolers With Communication Disorders: A Scoping Review Using The Icf-Cy, Barbara Jane Cunningham, Karla N. Washington, Amanda Binns, Katelyn Rolfe, Bernadette Robertson, Peter Rosenbaum
Current Methods Of Evaluating Speech-Language Outcomes For Preschoolers With Communication Disorders: A Scoping Review Using The Icf-Cy, Barbara Jane Cunningham, Karla N. Washington, Amanda Binns, Katelyn Rolfe, Bernadette Robertson, Peter Rosenbaum
PRECISe Preschool Speech and Language Publications
Purpose: The purpose of this scoping review was to identify current measures used to evaluate speech-language outcomes for preschoolers with communication disorders within the framework of the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY) (World Health Organization, 2007). Method: The review included five phases outlined by Arksey and O’Malley (2005) and further developed by Levac et al. 2010: (a) articulating the research question, (b) identifying relevant studies, (c) study selection, (d) charting the data, and (e) collating, summarizing and reporting the results. The WHO ICF-CY was used to frame the measures included. Results: A total …
Sleep Spindles And Intellectual Ability: Epiphenomenon Or Directly Related?, Zhuo Fang, Valya Sergeeva, Laura B. Ray, Adrian M. Owen, Stuart M. Fogel
Sleep Spindles And Intellectual Ability: Epiphenomenon Or Directly Related?, Zhuo Fang, Valya Sergeeva, Laura B. Ray, Adrian M. Owen, Stuart M. Fogel
Anatomy and Cell Biology Publications
Sleep spindlesshort, phasic, oscillatory bursts of activity that characterize non-rapid eye movement sleepare one of the only electrophysiological oscillations identified as a biological marker of human intelligence (e.g., cognitive abilities commonly assessed using intelligence quotient tests). However, spindles are also important for sleep maintenance and are modulated by circadian factors. Thus, the possibility remains that the relationship between spindles and intelligence quotient may be an epiphenomenon of a putative relationship between good quality sleep and cognitive ability or perhaps modulated by circadian factors such as morningness-eveningness tendencies. We sought to ascertain whether spindles are directly or indirectly related to cognitive …
Combat Vascular Trauma_ From Characterization To Innovation.Pdf, Shane Smith
Combat Vascular Trauma_ From Characterization To Innovation.Pdf, Shane Smith
Data and Test Instruments
The way that soldiers are injured in modern conflicts has changed. Bullet and ballistic weapons are causing fewer casualties, and more commonly Improvised Explosive Devices (IED) are injuring them. The purpose of this thesis is to characterize the injury pattern of the antipersonnel IED (AP-IED) in victims from the Afghanistan conflict, to retrospectively examine the incidence and type of vascular trauma in a Canadian level 1 trauma center and to develop and novel device for control of junctional vascular injuries.The injury pattern of 100 consecutive AP-IED victims was recorded. Multiple amputations occurred in 70% of IED victims: 5 quadruple amputations, …
Covert Narrative Capacity: Mental Life In Patients Thought To Lack Consciousness, Lorina Naci, Mackenzie Graham, Adrian M. Owen, Charles Weijer
Covert Narrative Capacity: Mental Life In Patients Thought To Lack Consciousness, Lorina Naci, Mackenzie Graham, Adrian M. Owen, Charles Weijer
Anatomy and Cell Biology Publications
Despite the apparent absence of external signs of consciousness, a significant proportion of behaviorally nonresponsive patients can respond to commands by willfully modulating their brain activity. However, little is known about the mental life of these patients. We discuss a recent innovative approach, which sheds light on the preserved cognitive capacities of these patients, including executive function, theory of mind, and the experience of affective states. This research represents a fundamental shift in our understanding of these patients, and has important implications for both their continued treatment and care. Moreover, this research marks out avenues for future inquiry into the …
Real-Time Interactive Tractography Analysis For Multimodal Brain Visualization Tool: Multixplore, Saeed M. Bakhshmand, Sandrine De Ribaupierre, Roy Eagleson
Real-Time Interactive Tractography Analysis For Multimodal Brain Visualization Tool: Multixplore, Saeed M. Bakhshmand, Sandrine De Ribaupierre, Roy Eagleson
Anatomy and Cell Biology Publications
Most debilitating neurological disorders can have anatomical origins. Yet unlike other body organs, the anatomy alone cannot easily provide an understanding of brain functionality. In fact, addressing the challenge of linking structural and functional connectivity remains in the frontiers of neuroscience. Aggregating multimodal neuroimaging datasets may be critical for developing theories that span brain functionality, global neuroanatomy and internal microstructures. Functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) are main such techniques that are employed to investigate the brain under normal and pathological conditions. FMRI records blood oxygenation level of the grey matter (GM), whereas DTI is able …
The Roles Of Insulin-Like Growth Factors In Mesenchymal Stem Cell Niche, Amer Youssef, Doaa Aboalola, Victor K. M. Han
The Roles Of Insulin-Like Growth Factors In Mesenchymal Stem Cell Niche, Amer Youssef, Doaa Aboalola, Victor K. M. Han
Anatomy and Cell Biology Publications
Many tissues contain adult mesenchymal stem cells (MSCs), which may be used in tissue regeneration therapies. However, the MSC availability in most tissues is limited which demands expansion in vitro following isolation. Like many developing cells, the state of MSCs is affected by the surrounding microenvironment, and mimicking this natural microenvironment that supports multipotent or differentiated state in vivo is essential to understand for the successful use of MSC in regenerative therapies. Many researchers are, therefore, optimizing cell culture conditions in vitro by altering growth factors, extracellular matrices, chemicals, oxygen tension, and surrounding pH to enhance stem cells self-renewal or …
Molecular Characterization Of Nrxn1 Deletions From 19,263 Clinical Microarray Cases Identifies Exons Important For Neurodevelopmental Disease Expression, Chelsea Lowther, Marsha Speevak, Christine M Armour, Elaine S Goh, Gail E Graham, Chumei Li, Susan Zeesman, Malgorzata J M Nowaczyk, Lee-Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H Jung, Victoria Siu, Manjulata Rajguru, Sharan Goobie, Mark A Tarnopolsky, Chitra Prasad, Paul T Dick, Asmaa S Hussain, Margreet Walinga, Renske G Reijenga, Matthew Gazzellone, Anath C Lionel, Christian R Marshall, Stephen W Scherer, Dimitri J Stavropoulos, Elizabeth Mccready, Anne S Bassett
Molecular Characterization Of Nrxn1 Deletions From 19,263 Clinical Microarray Cases Identifies Exons Important For Neurodevelopmental Disease Expression, Chelsea Lowther, Marsha Speevak, Christine M Armour, Elaine S Goh, Gail E Graham, Chumei Li, Susan Zeesman, Malgorzata J M Nowaczyk, Lee-Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H Jung, Victoria Siu, Manjulata Rajguru, Sharan Goobie, Mark A Tarnopolsky, Chitra Prasad, Paul T Dick, Asmaa S Hussain, Margreet Walinga, Renske G Reijenga, Matthew Gazzellone, Anath C Lionel, Christian R Marshall, Stephen W Scherer, Dimitri J Stavropoulos, Elizabeth Mccready, Anne S Bassett
Paediatrics Publications
PURPOSE: The purpose of the current study was to assess the penetrance of NRXN1 deletions.
METHODS: We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions.
RESULTS: We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI): 2.91-22.72; P < 0.0001). Ten (22.7%) of these had a second clinically relevant CNV. Subjects with a deletion near the 3' end of NRXN1 were significantly more likely to have a second rare CNV than subjects with a 5' NRXN1 deletion (OR = 7.47; 95% CI: 2.36-23.61; P = 0.0006). The prevalence of intronic NRXN1 deletions was not statistically different between cases and controls (P = 0.618). The majority (63.2%) of intronic NRXN1 deletion cases had a second rare CNV at a prevalence twice as high as that for exonic NRXN1 deletion cases (P = 0.0035).
CONCLUSIONS: The results support the importance of exons …
Cytoplasmic Distribution Of Hiv-1 Tat Sensitizes Jurkat T Cells To Sulphamethoxazole-Hydroxylamine Induced Toxicity, Kemi Adeyanju, Gregory A. Dekaban, Michael J. Rieder
Cytoplasmic Distribution Of Hiv-1 Tat Sensitizes Jurkat T Cells To Sulphamethoxazole-Hydroxylamine Induced Toxicity, Kemi Adeyanju, Gregory A. Dekaban, Michael J. Rieder
Paediatrics Publications
Background: One medication commonly used by HIV-1-infected individuals is the antimicrobial sulphamethoxazole (SMX), which is used in the treatment and prophylaxis of pneumocystis pneumonia. However, SMX is responsible for a very high incidence of hypersensitivity adverse drug reactions (ADRs) in the HIV-1 population. While the pathophysiology of ADRs in general is unknown, sulphamethoxazole-mediated ADRs have been linked to its reactive metabolite sulphamethoxazole-hydroxylamine (SMX-HA). Our previous work has shown that increased expression of the HIV-1 Tat protein in T cells correlated with increased apoptosis after incubation with SMX-HA. In this study we sought to determine the region of the Tat protein …
Brainstem Shape Is Affected By Clinical Course In The Neonatal Intensive Care Unit, Marcus Lo, Leire Zubiaurre-Elorza, Conor Wild, Annika C Linke, David S C Lee, Victor K Han, Rhodri Cusack
Brainstem Shape Is Affected By Clinical Course In The Neonatal Intensive Care Unit, Marcus Lo, Leire Zubiaurre-Elorza, Conor Wild, Annika C Linke, David S C Lee, Victor K Han, Rhodri Cusack
Paediatrics Publications
The brainstem, critical for motor function, autonomic regulation, and many neurocognitive functions, undergoes rapid development from the third trimester. Accordingly, we hypothesized it would be vulnerable to insult during this period, and that a difficult clinical course in the neonatal intensive care unit (NICU) would affect development, and be reflected through atypical shape. Our study population consisted of 66 neonates - all inpatients from the NICU at Victoria Hospital, London Health Sciences Centre, ON, Canada, of which 45 entered the final analysis. The cohort varied in gestational age (GA) and ranged from neurologically healthy to severely brain-injured. Structural MRI was …
Different Effects Of Insulin-Like Growth Factor-1 And Insulin-Like Growth Factor-2 On Myogenic Differentiation Of Human Mesenchymal Stem Cells, Doaa Aboalola, Victor K M Han
Different Effects Of Insulin-Like Growth Factor-1 And Insulin-Like Growth Factor-2 On Myogenic Differentiation Of Human Mesenchymal Stem Cells, Doaa Aboalola, Victor K M Han
Paediatrics Publications
Insulin-like growth factors (IGFs) are critical components of the stem cell niche, as they regulate proliferation and differentiation of stem cells into different lineages, including skeletal muscle. We have previously reported that insulin-like growth factor binding protein-6 (IGFBP-6), which has high affinity for IGF-2, alters the differentiation process of placental mesenchymal stem cells (PMSCs) into skeletal muscle. In this study, we determined the roles of IGF-1 and IGF-2 and their interactions with IGFBP-6. We showed that IGF-1 increased IGFBP-6 levels within 24 hours but decreased after 3 days, while IGF-2 maintained higher levels of IGFBP-6 throughout myogenesis. IGF-1 increased IGFBP-6 …
Pediatric Emergency Care Capacity In A Low-Resource Setting: An Assessment Of District Hospitals In Rwanda, Celestin Hategeka, Jean Shoveller, Lisine Tuyisenge, Cynthia Kenyon, David F Cechetto, Larry D Lynd
Pediatric Emergency Care Capacity In A Low-Resource Setting: An Assessment Of District Hospitals In Rwanda, Celestin Hategeka, Jean Shoveller, Lisine Tuyisenge, Cynthia Kenyon, David F Cechetto, Larry D Lynd
Paediatrics Publications
BACKGROUND: Health system strengthening is crucial to improving infant and child health outcomes in low-resource countries. While the knowledge related to improving newborn and child survival has advanced remarkably over the past few decades, many healthcare systems in such settings remain unable to effectively deliver pediatric advance life support management. With the introduction of the Emergency Triage, Assessment and Treatment plus Admission care (ETAT+)-a locally adapted pediatric advanced life support management program-in Rwandan district hospitals, we undertook this study to assess the extent to which these hospitals are prepared to provide this pediatric advanced life support management. The results of …
Identification Of Epigenetic Signature Associated With Alpha Thalassemia/Mental Retardation X-Linked Syndrome, Laila C Schenkel, Kristin D Kernohan, Arran Mcbride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner, Kym M Boycott, Charles Schwartz, Bekim Sadikovic
Identification Of Epigenetic Signature Associated With Alpha Thalassemia/Mental Retardation X-Linked Syndrome, Laila C Schenkel, Kristin D Kernohan, Arran Mcbride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner, Kym M Boycott, Charles Schwartz, Bekim Sadikovic
Paediatrics Publications
BACKGROUND: Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene
RESULTS: We performed genome-wide DNA methylation assessment of the peripheral blood samples from 18 patients with ATR-X and compared it to 210 controls. We demonstrated the evidence of a unique and highly specific DNA methylation "epi-signature" in the peripheral blood of ATRX patients, which was corroborated by targeted bisulfite sequencing experiments. Although genomically represented, differentially methylated regions showed evidence of preferential clustering in pericentromeric and telometric chromosomal regions, areas where ATRX has multiple functions related to maintenance of heterochromatin and genomic integrity.
CONCLUSION: …