Medicine and Health Sciences Commons^™

Associated Factors Of Cam Use In Adults With Chronic Pain: A Scoping Review, Jessica Lachance

Western Research Forum

Background: Chronic pain is a multifaceted, complex disorder resulting in disability that poses a significant impact on the quality of life for those afflicted and serious effects on society and the health care system at large. Available conventional treatments for chronic pain are not fully effective, resulting in more people turning to Complementary and Alternative Medicine to manage it. This area encompasses any medical system or therapy that resides outside of the conventional medical treatments of a given society, for example: acupuncture, chiropractic, massage, or Traditional Chinese Medicine. One important direction of research in this area is to understand the …

Effects Of Mental Imagery Use On Anxiety, Confidence, Mental Well-Being, And Performance In Track And Field Athletes, Sarah J. Deck, Despina Kouali, Craig Hall Dr.

Western Research Forum

Background: Student athletes can experience a number of stressors above and beyond those of their classmates, one being competition anxiety in their specific sport, which is common among varsity athletes (Storch, Storch, Killiany, & Roberti, 2005). Unfortunately, the tools to help with the demands of their sport mentally are often overlooked by not only the athletes, but their coaches, teammates, and supporters. The purpose of the present study was to introduce imagery as a tool to help deal with competition anxiety (i.e., fear of failure), and to improve confidence, mental well-being, and performance.

Methods: Two female varsity level throwers ( …

A Chimeric Nucleobase - Phenylazo Derivative As An Intrinsic Nucleobase Quencher, Gyeongsu Park, Timothy Martin-Chan, Amer El Samm, Robert H.E. Hudson

Western Research Forum

Molecular beacons are important bioanalytical probes which are most often

constructed from a single-stranded oligonucleotide which has been labeled at

opposite termini with a fluorophore and a quencher. When the fluorophore and

quencher are in close proximity, no fluorescence is observed due to FRET

(Fluorescence Resonance Energy Transfer). DABCYL (4-dimethylaminoazobenzene-

4'-carboxylic acid) has been used as a quencher in the molecular beacon to absorbs

excitation energy from a fluorophore and to dissipate the energy as heat. However,

DABCYL is unable to form a base-pair and is conventionally placed as an overhanging

residue. This produces a derivative wherein the chromophore has …

Developing Novel Therapeutics For Bacterial Lung Infections, Brandon J. Baer, Ruud Veldhuizen, Cory Yamashita

Western Research Forum

Background: Bacterial lung infections are leading causes of death worldwide. Unfortunately, increasing resistance to antibiotics and the inflammation often accompanying these infections are leading to poor outcomes despite antibiotic intervention. Complicating treatment further, the tree-like branching structure of the lung makes drug delivery to distal sites of infection difficult. Our research aims to address these challenges by developing new therapeutics and new tools to improve and assess drug delivery, bacterial killing and inflammation. Our therapy combines host defense peptides, which have been shown to kill antibiotic-resistant bacteria and down regulate inflammation, with a pulmonary vehicle, exogenous surfactant, that can improve …

Head Injury Risk And Car Seat Use For Children In Collisions, Peyton A. Schroeder, M.J. Skhurm, D. Fraser, K. Mcclafferty

Western Research Forum

Background: Motor vehicle collisions (MVCs) are the leading cause of death for people under the age of 17 years. Almost 80% of rear seat motor vehicle passengers are children. Previous studies have shown that a large fraction of injuries to children in MVCs involved the head and chest. In this study, the hypothesis that children under the age of eight using a forward-facing child restraint system (FFCRS) will have more severe head injuries than children using any other type of restraints in an MVC was tested.

Methods: Several datasets obtained from Transport Canada and Level 1 Pediatric Trauma Centre emergency …

Perioperative Gait Analysis After Total Hip Arthroplasty: Does Outpatient Surgery Compromise Patient Outcomes?, Bryn O. Zomar, Susan W. Hunter, Dianne Bryant, Brent A. Lanting, James L. Howard

Western Research Forum

Background: There has been a continuing trend towards decreasing the length of hospital stay for patients undergoing total hip arthroplasty (THA). Outpatient procedures, discharging patients on the same day as surgery, have now become possible yet little research has been done to examine the impact this might have on patients during early recovery. We aimed to investigate the impact of discharge time on gait and patient-reported outcomes in the early post-operative period.

Methods: We measured gait velocity, stride length, single-limb support and single-limb support symmetry preoperatively, at discharge from the hospital, and two-, six- and 12-weeks postoperatively. Participants also completed …

Differentiating Midbrain Structures In Parkinson’S Disease Using Magnetic Resonance Imaging, Erind Alushaj

Western Research Forum

Background: This study aims to differentiate two midbrain structures: substantia nigra pars compacta (SNc) and ventral tegmental area (VTA) in patients with early-stage Parkinson’s Disease (PD) using magnetic resonance imaging (MRI). The SNc degenerates earlier in PD causing motor symptoms; whereas, VTA degeneration occurs later leading to non-motor symptoms. Conventionally, the SNc and VTA project to the dorsal and ventral striatum respectively. Evidence suggests this model may be overly simplistic since the dorsal striatum has uneven dopamine loss in PD. So, the dorsal striatum was segmented into six functional subregions and only the caudal motor subregion showed early changes …

Improving Canadian Indigenous Health: Diabetes & Cardiovascular Disease, Sukhmeet S. Sachal

Western Research Forum

Background:

This abstract explores improving health outcomes for Canada’s Indigenous peoples. The increased prevalence of cardiovascular diseases (CVD) and diabetes in this population makes this a public health problem because diabetes has long-term complications that affect the cardiovascular system and can result in disability and premature death.

Methods:

A literature review using specific search terms was performed to find 36 relevant articles. Search databases for the primary and secondary information were CINAHL and PubMED, respectively.

Results:

The results were classified into five groups: (1) Previous Genetic Protection; (2) Current Day Risk; (3) Diet; (4) Barriers in Developing and Maintaining …

Clarifying Dopaminergic Projections Of The Ventral Tegmental Area And Substantia Nigra In Humans Using Structural Magnetic Resonance Imaging, Nicholas Handfield-Jones

Western Research Forum

Background

Dopaminergic (DA) pathways from the human midbrain to the striatum mediate movement, decision making, learning, and reward processing. Classically, the scientific consensus has been that there are two main DA pathways: the nigrostriatal and the mesolimbic pathways. In the nigrostriatal pathway, the substantia nigra par compacta (SNc) sends DA to the dorsal striatum (DS), and in the mesolimbic pathway, the ventral tegmental area (VTA) sends DA to the ventral striatum (VS) as well as prefrontal and limbic cortices. Recent findings, however, cast doubt on the accuracy of this model. It seems likely these DA projections are more overlapping and …

Navigating Through The Challenges Of Healthcare Simulated Education, Ryan Chan, Adam Morse

Western Research Forum

Background: The use of simulation as an adjunct tool for student learning and development in addition to traditional didactic teaching modalities has been traditionally favored by health care education. However, evidence suggest that there are limitations to the current use of simulation and thoughtful considerations must be made to leverage the current use of simulation to promote further learning strategies including the use of haptic technology. The aim of this research is to examine the strengths and limitations of haptic technology and to identify opportunities for future research relating to the use and adaptation of haptic technology as part of …

Circulatory Insufficiency And Hypotension Related To The Ductus Arteriosus In Neonates, Danielle R Rios, Soume Bhattacharya, Philip T Levy, Patrick J Mcnamara

Paediatrics Publications

The biological role of the ductus arteriosus (DA) in neonates varies from an innocent bystander role during normal postnatal transition, to a supportive role when there is compromise to either systemic or pulmonary blood flow, to a pathological state in the presence of hemodynamically significant systemic to pulmonary shunts, as occurs in low birth weight infants. Among a wide array of clinical manifestations arising due to the ductal entity, systemic circulatory insufficiency and hypotension are of significant concern as they are particularly challenging to manage. An understanding of the physiologic interplay between the DA and the circulatory system is the …

Automated Registration And Stitching Of Multiple 3d Ultrasound Images For Monitoring Neonatal Intraventricular Hemorrhage, A. Harris, S. De Ribaupierre, Lori Gardi, Aaron Fenster, Jessica Kishimoto

Anatomy and Cell Biology Publications

Dilatation of the cerebral ventricles is a common condition in preterm neonates with intraventricular hemorrhage (IVH). Post Hemorrhagic Ventricular Dilatation (PHVD) can lead to lifelong neurological impairment caused by ischemic injury due to increased intracranial pressure, and without treatment can lead to death. Previously, we have developed and validated a 3D ultrasound (US) system to monitor the progression of ventricle volumes (VV) in IVH patients; however, many patients with severe PHVD have ventricles so large they cannot be imaged within a single 3D US image. This limits the utility of atlas based segmentation algorithms required to measure VV as parts …

The Incidence And Characteristics Of Stroke In Urban-Dwelling Iranian Women, Amin Amiri Md, Moira Kapral Md Msc, Amanda G. Thrift Phd, Luciano A. Sposato, Hamidreza Saber Md, Reza Behrouz Do Phd, Mahdiyeh Erfanian, Mohammad Taghi Farzadfard Md, Naghmeh Mokhber Md, Reza Azarpazhooh Md

Anatomy and Cell Biology Publications

Background: Population-based data regarding stroke among women are scarce in developing countries. This study was designed to determine whether sex differences exist in stroke incidence, mortality, and recurrence.

Methods: The Mashhad Stroke Incidence Study is a population-based cohort study in Iran. For a period of 1 year, all patients with stroke in 3 geographical regions in Mashhad were recruited and then followed up for 5 years. Age- and sex-specific crude incidence rates were standardized to the World Health Organization New World Population. Male-to-female incidence rate ratios were assessed for all age groups and all subtypes of first-ever stroke (FES). …

Treatment-Related Mortality In Newly Diagnosed Pediatric Cancer: A Population-Based Analysis., Paul Gibson, Jason D Pole, Tanya Lazor, Donna Johnston, Carol Portwine, Mariana Silva, Sarah Alexander, Lillian Sung

Paediatrics Publications

Using a previously developed reliable and valid treatment-related mortality (TRM) definition, our objective was to describe the proportion of children newly diagnosed with cancer experiencing TRM and to identify risk factors for TRM in a population-based cohort. We included children with cancerincluded, 179 had TRM, 478 died of progressive disease, and 4522 were still alive. At 5 years, the cumulative incidence of TRM among the entire cohort was 3.9% (95% confidence interval (CI) 3.3-4.5%). When compared to brain tumor patients, leukemia and lymphoma patients had a significantly higher risk of TRM (hazard ratio (HR) 2.5, 95% CI: 1.6-4.0; P < 0.0001). Infants were at significantly higher risk of TRM across diagnostic groups. Other factors associated with higher risks of TRM were metastatic disease (P < 0.0001), diagnosis prior to 1 January 2008 (P = 0.001), hematopoietic stem cell transplantation (HSCT) (P < 0.0001), and relapse (P < 0.0001). The 5-year cumulative incidence of TRM was 3.9% among newly diagnosed children with cancer. Infants were at higher risk of TRM across diagnostic groups. Other risk factors for TRM were leukemia or lymphoma, metastatic disease, earlier diagnosis year, HSCT, and relapse. Future work should further refine prognostic factors by specific cancer diagnosis to best understand when and how to intervene to improve outcomes.

Treatment-Related Mortality In Newly Diagnosed Pediatric Cancer: A Population-Based Analysis, Paul Gibson, Jason D Pole, Tanya Lazor, Donna Johnston, Carol Portwine, Mariana Silva, Sarah Alexander, Lillian Sung

Paediatrics Publications

Using a previously developed reliable and valid treatment-related mortality (TRM) definition, our objective was to describe the proportion of children newly diagnosed with cancer experiencing TRM and to identify risk factors for TRM in a population-based cohort. We included children with cancerincluded, 179 had TRM, 478 died of progressive disease, and 4522 were still alive. At 5 years, the cumulative incidence of TRM among the entire cohort was 3.9% (95% confidence interval (CI) 3.3-4.5%). When compared to brain tumor patients, leukemia and lymphoma patients had a significantly higher risk of TRM (hazard ratio (HR) 2.5, 95% CI: 1.6-4.0; P < 0.0001). Infants were at significantly higher risk of TRM across diagnostic groups. Other factors associated with higher risks of TRM were metastatic disease (P < 0.0001), diagnosis prior to 1 January 2008 (P = 0.001), hematopoietic stem cell transplantation (HSCT) (P < 0.0001), and relapse (P < 0.0001). The 5-year cumulative incidence of TRM was 3.9% among newly diagnosed children with cancer. Infants were at higher risk of TRM across diagnostic groups. Other risk factors for TRM were leukemia or lymphoma, metastatic disease, earlier diagnosis year, HSCT, and relapse. Future work should further refine prognostic factors by specific cancer diagnosis to best understand when and how to intervene to improve outcomes.

Factors Associated With Health-Related Quality Of Life, Hip Function, And Health Utility After Operative Management Of Femoral Neck Fractures, S. Sprague, M. Bhandari, M. J. Heetveld, S. Liew, T. Scott, S. Bzovsky, D. Heels-Ansdell, Q. Zhou, M. Swiontkowski, E. H. Schemitsch

Bone and Joint Institute

© 2018 The British Editorial Society of Bone & Joint Surgery. Aims The primary aim of this prognostic study was to identify baseline factors associated with physical health-related quality of life (HRQL) in patients after a femoral neck fracture. The secondary aims were to identify baseline factors associated with mental HRQL, hip function, and health utility. Patients and Methods Patients who were enrolled in the Fixation using Alternative Implants for the Treatment of Hip Fractures (FAITH) trial completed the 12-item Short Form Health Survey (SF-12), Western Ontario and McMaster Universities Arthritis Index, and EuroQol 5-Dimension at regular intervals for 24 …

Cortical And Thalamic Connectivity To The Second Auditory Cortex Of The Cat Is Resilient To The Onset Of Deafness., Blake E Butler, Alexandra De La Rua, Taylor Ward-Able, Stephen G Lomber

Brain and Mind Institute Researchers' Publications

It has been well established that following sensory loss, cortical areas that would normally be involved in perceiving stimuli in the absent modality are recruited to subserve the remaining senses. Despite this compensatory functional reorganization, there is little evidence to date for any substantial change in the patterns of anatomical connectivity between sensory cortices. However, while many auditory areas are contracted in the deaf, the second auditory cortex (A2) of the cat undergoes a volumetric expansion following hearing loss, suggesting this cortical area may demonstrate a region-specific pattern of structural reorganization. To address this hypothesis, and to complement existing literature …

Nutrient Intake In The First Two Weeks Of Life And Brain Growth In Preterm Neonates., Juliane Schneider, Céline J Fischer Fumeaux, Emma G Duerden, Ting Guo, Justin Foong, Myriam Bickle Graz, Patric Hagmann, M Mallar Chakravarty, Petra S Hüppi, Lydie Beauport, Anita C Truttmann, Steven P Miller

Brain and Mind Institute Researchers' Publications

BACKGROUND: Optimizing early nutritional intake in preterm neonates may promote brain health and neurodevelopment through enhanced brain maturation. Our objectives were (1) to determine the association of energy and macronutrient intake in the first 2 weeks of life with regional and total brain growth and white matter (WM) maturation, assessed by 3 serial MRI scans in preterm neonates; (2) to examine how critical illness modifies this association; and (3) to investigate the relationship with neurodevelopmental outcomes.

METHODS: Forty-nine preterm neonates (21 boys, median [interquartile range] gestational age: 27.6 [2.3] weeks) were scanned serially at the following median postmenstrual weeks: 29.4, …

Acute Inhibition Of Estradiol Synthesis Impacts Vestibulo-Ocular Reflex Adaptation And Cerebellar Long-Term Potentiation In Male Rats, Cristina V. Dieni, Aldo Ferraresi, Jacqueline A. Sullivan, Sivarosa Grassi, Vito E. Pettorossi, Roberto Panichi

Brain and Mind Institute Researchers' Publications

© 2017, The Author(s). The vestibulo-ocular reflex (VOR) adaptation is an ideal model for investigating how the neurosteroid 17 beta-estradiol (E2) contributes to the modification of behavior by regulating synaptic activities. We hypothesized that E2 impacts VOR adaptation by affecting cerebellar synaptic plasticity at the parallel fiber–Purkinje cell (PF) synapse. To verify this hypothesis, we investigated the acute effect of blocking E2 synthesis on gain increases and decreases in adaptation of the VOR in male rats using an oral dose (2.5 mg/kg) of the aromatase inhibitor letrozole. We also assessed the effect of letrozole on synaptic plasticity at the PF …

Long-Term Results Of Protocol Kidney Biopsy Directing Steroid Withdrawal In Simultaneous Pancreas-Kidney Transplant Patients, Nemin Zhu, Neal E. Rowe, Paul R. Martin, Sean S. Luke, Thomas B. Mcgregor, Frank Myslik, Vivian C. Mcalister, Alp Sener, Patrick P. Luke

Anatomy and Cell Biology Publications

Introduction: We sought to determine whether protocol biopsies could be used to guide treatment and improve outcomes in simultaneous pancreas-kidney (SPK) patients.

Methods: Between 2004 and 2013, protocol biopsies were performed on SPK patients at 3–6 months and one year post-transplant. Maintenance immunosuppression consisted of a calcineurin inhibitor, anti-proliferative agent, and corticosteroid. Corticosteroid was withdrawn in negative early biopsies, maintained in subclinical/ borderline biopsies, and increased if Banff IB or greater rejection was identified. Endpoints included presence of interstitial fibrosis and tubular atrophy on biopsy at one year (IF/TA), rejection episodes, and renal and pancreas function at five years’ followup. …

Free-Breathing Pulmonary Mr Imaging To Quantify Regional Ventilation, Dante P I Capaldi, Rachel L Eddy, Sarah Svenningsen, Fumin Guo, John S H Baxter, A Jonathan Mcleod, Parameswaran Nair, David G Mccormack, Grace Parraga

Medical Biophysics Publications

Purpose: To measure regional specific ventilation with free-breathing hydrogen 1 (1H) magnetic resonance (MR) imaging without exogenous contrast material and to investigate correlations with hyperpolarized helium 3 (3He) MR imaging and pulmonary function test measurements in healthy volunteers and patients with asthma.

Materials and Methods: Subjects underwent free-breathing 1H and static breath-hold hyperpolarized 3He MR imaging as well as spirometry and plethysmography; participants were consecutively recruited between January and June 2017. Free-breathing 1H MR imaging was performed with an optimized balanced steady-state free-precession sequence; images were retrospectively grouped into tidal inspiration or tidal expiration volumes with exponentially weighted phase interpolation. …

Patient Perspectives On Improving Osteoarthritis Management In Urban And Rural Communities, Shabana Amanda Ali, Kathleen Ellen Walsh, Marita Kloseck

Bone and Joint Institute

© 2018 Ali et al. Introduction: Although there is no cure for osteoarthritis (OA), there are lifestyle modifications that can mitigate symptoms such as pain, and improve management of the disease. This information is not always translated to community-dwelling seniors. Individuals in rural areas often face additional challenges due to geographic isolation and decreased access to community services. Methods: We used qualitative research methodology (hermeneutic phenomenology) to better understand the lived experiences of urban and rural community-dwelling seniors diagnosed with OA. We explored their sources of information about OA, how they manage their OA pain, and how OA management could …

Position Statement Of The Arthroscopy Association Of Canada (Aac) Concerning Arthroscopy Of The Knee Joint—September 2017, Ivan Wong, Laurie Hiemstra, Olufemi R. Ayeni, Alan Getgood, Cole Beavis, Monika Volesky, Ross Outerbridge, Brendan Sheehan, Robert Mccormack, Robert Litchfield, Daniel Whelan, Nicholas Mohtadi, Catherine Coady, Peter B. Macdonald

Bone and Joint Institute

No abstract provided.

Process Evaluation Of The Healthesteps™ Lifestyle Prescription Program, Wendy Blunt, Dawn P. Gill, Brendan Riggin, Judith Belle Brown, Robert Petrella

Lifestyle Research Team

Background: Physical inactivity, sedentary behaviour, and poor diet are contributing to the rise in chronic disease rates throughout the world. HealtheSteps™ is a lifestyle prescription program focused on reducing risk factors for chronic disease through in-person coaching sessions, goal setting and tracking, and technology supports.

Purpose:A process evaluation was conducted alongside a pragmatic randomized controlled trial to: a) explore the acceptability of HealtheSteps™ program from coach and participant perspectives; and b) identify where the program can be improved.

Methods:Participants at risk or diagnosed with a chronic disease were recruited from five primary care/health services …

Nusinersen Versus Sham Control In Later-Onset Spinal Muscular Atrophy., Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel

Paediatrics Publications

BACKGROUND: Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA).

METHODS: We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had symptom onset after 6 months of age. The children were randomly assigned, in a 2:1 ratio, to undergo intrathecal administration of nusinersen at a dose of 12 mg (nusinersen group) or a sham procedure (control group) on days 1, 29, 85, and 274. The primary end point was …

Nusinersen Versus Sham Control In Later-Onset Spinal Muscular Atrophy, Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel

Paediatrics Publications

Background

Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA).

Methods

We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had symptom onset after 6 months of age. The children were randomly assigned, in a 2:1 ratio, to undergo intrathecal administration of nusinersen at a dose of 12 mg (nusinersen group) or a sham procedure (control group) on days 1, 29, 85, and 274. The primary end point was …

Peripheral Blood Epi-Signature Of Claes-Jensen Syndrome Enables Sensitive And Specific Identification Of Patients And Healthy Carriers With Pathogenic Mutations In Kdm5c, Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I Rodenhiser, Charles Schwartz, Bekim Sadikovic

Paediatrics Publications

Background

Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the

Results

Genome-wide DNA methylation analysis of 7 male patients affected with Claes-Jensen syndrome and 56 age- and sex-matched controls identified a specific DNA methylation defect (epi-signature) in the peripheral blood of these patients, including 1769 individual CpGs and 9 genomic regions. Six healthy female carriers showed less pronounced but distinctive changes in the same regions enabling their differentiation from both patients and controls. Highly specific computational model using the most significant methylation changes demonstrated 100% accuracy in differentiating patients, carriers, and controls in the training cohort, …

Eculizumab Dosing In Infants, M Kobrzynski, B Wile, S S Huang, G Filler

Paediatrics Publications

Eculizumab is the therapy of choice for patients with atypical hemolytic uremic syndrome (aHUS). Dosing recommendations stem from two trials: one retrospective trial (19 children and 5 infants) and one prospective trial (22 patients and 5 infants). This case report highlights the need for more precise dosing recommendations in children, particularly in infants, and for smaller vials of the medication to facilitate more precise dosing. Such changes would ensure that adverse events are minimized and that the children with aHUS who are treated with eculizumab experience an optimal clinical response.

Pura Syndrome: Clinical Delineation And Genotype-Phenotype Study In 32 Individuals With Review Of Published Literature, Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J Van Essen, Maaike Vreeburg, Rob P W Rouhl, Servi J C Stevens, Alexander P A Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke Van Dijk, Eric Smeets, Connie T R M Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, Sofia Douzgou, Nicola S Cooper, Ene-Choo Tan, Roger Foo, Angeline H M Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S Carvalho, James J Dowling, Dorit L Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerová, Jeff L Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F Smithson, Han G Brunner, Ceciel Van Hoeckel, Mel Anderson, Virginia E Clowes, Victoria Mok Siu, The Ddd Study, Paulo Selber, Richard J Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle

Paediatrics Publications

BACKGROUND: De novo mutations in

OBJECTIVES: To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations.

METHODS: Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of

RESULTS: We report mutations in

CONCLUSION: We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual …

De Novo And Rare Inherited Copy-Number Variations In The Hemiplegic Form Of Cerebral Palsy, Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Susan Walker, Daniele Merico, Guillermo Casallo, Mohammed Uddin, Jeffrey R Macdonald, Matthew J Gazzellone, Edward J Higginbotham, Craig Campbell, Gabrielle Deveber, Pam Frid, Jan Willem Gorter, Carolyn Hunt, Anne Kawamura, Marie Kim, Anna Mccormick, Ronit Mesterman, Dawa Samdup, Christian R Marshall, Dimitri J Stavropoulos, Richard F Wintle, Stephen W Scherer

Paediatrics Publications

PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (