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Sabrine Souci, Mathilde Petton, Julien Jung, Pierre Bourdillon, Romain Bouet, Aurélie Richard-Mornas, Nathalie Streichenberger, Hélène Catenoix, Alexandra Montavont, Jean Isnard, Marc Guenot, Philippe Kahane, Jean-Philippe Lachaux, Sylvain Rheims
OBJECTIVE: Few data are available about the functionality of type II focal cortical dysplasia (FCD). Identification of high-frequency activities (HFAs) induced by cognitive tasks has been proposed as an additional way to map cognitive functions in patients undergoing presurgical evaluation using stereoelectroencephalography (SEEG). However, the repetitive subcontinuous spiking pattern which characterizes type II FCD might limit the reliability of this approach, and its feasibility in these patients remains to be evaluated...
June 14, 2018: Epilepsy & Behavior: E&B
Fatemeh S Mirnaghi, Nicholas Soucy, Bruce P Hollebone, Carl E Brown
The characterization of spilled petroleum products in an oil spill is necessary for identifying the spill source, selection of clean-up strategies, and evaluating potential environmental and ecological impacts. Existing standard methods for the chemical characterization of spilled oils are time-consuming due to the lengthy sample preparation for analysis. The main objective of this study is the development of a rapid screening method for the fingerprinting of spilled petroleum products using excitation/emission matrix (EEM) fluorescence spectroscopy, thereby delivering a preliminary evaluation of the petroleum products within hours after a spill...
May 19, 2018: Chemosphere
Creagh Boulger, Rachel B Liu, Giuliano De Portu, Nik Theyyunni, Margaret Lewis, Resa E Lewiss, Zachary P Soucy, Vi Am Dinh, Alan Chiem, Sara Singhal, Donald Di Salvo, John S Pellerito, David Bahner
No abstract text is available yet for this article.
May 21, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Isabelle Soucy, Martin D Provencher, Michelle Fortier, Taylor McFadden
BACKGROUND: This article presents secondary outcome variables from a randomized controlled trial evaluating the efficacy of two guided self-help interventions for the treatment of depression: behavioral activation (BA) and physical activity (PA). Both interventions resulted in significant reductions in depressive symptoms compared to the wait-list control group, however the mechanisms by which these interventions influenced depression were not presented. PURPOSE: The purpose of this paper was to compare changes in secondary outcome variables to gain insight into the mechanisms by which reactivation interventions reduce depressive symptoms...
May 3, 2018: Journal of Mental Health
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, T Leblanc, Y Capri, S Nizard, E Lemyre, J L Michaud, V-A Pelletier, Y D Pastore, J-F Soucy
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype and natural history remain to be defined. We correlate molecular data, phenotype, and clinical history of five unreported affected children and all individuals reported in the literature...
April 26, 2018: Clinical Genetics
James D Anderst, Shannon L Carpenter, Rodney Presley, Molly Curtin Berkoff, Allison P Wheeler, Robert F Sidonio, J Michael Soucie
BACKGROUND: Bleeding disorders and abusive head trauma (AHT) are associated with intracranial hemorrhage (ICH), including subdural hemorrhage (SDH). Because both conditions often present in young children, the need to screen for bleeding disorders would be better informed by data that include trauma history and are specific to young children. The Universal Data Collection database contains information on ICH in subjects with bleeding disorders, including age and trauma history. Study objectives were to (1) characterize the prevalence and calculate the probabilities of any ICH, traumatic ICH, and nontraumatic ICH in children with congenital bleeding disorders; (2) characterize the prevalence of spontaneous SDH on the basis of bleeding disorder; and (3) identify cases of von Willebrand disease (vWD) that mimic AHT...
May 2018: Pediatrics
Rebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, Cheryl Cytrynbaum, Michelle M Axford, Vanessa Londero, Sharon Moalem, Jennifer Orr, Francis Rossignol, Fatima Daniela Lopes, Julie Gauthier, Nathalie Alos, Rosemarie Rupps, Margaret McKinnon, Shelin Adam, Malgorzata J M Nowaczyk, Susan Walker, Stephen W Scherer, Christina Nassif, Fadi F Hamdan, Cheri L Deal, Jean-François Soucy, Rosanna Weksberg, Patrick Macleod, Jacques L Michaud, David Chitayat
BACKGROUND: Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. METHODS AND RESULTS: We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients...
May 2018: Journal of Medical Genetics
Jonathan R Soucy, Ehsan Shirzaei Sani, Roberto Portillo Lara, David Diaz, Felipe Dias, Anthony S Weiss, Abigail N Koppes, Ryan A Koppes, Nasim Annabi
Suturing peripheral nerve transections is the predominant therapeutic strategy for nerve repair. However, the use of sutures leads to scar tissue formation, hinders nerve regeneration, and prevents functional recovery. Fibrin-based adhesives have been widely used for nerve reconstruction, but their limited adhesive and mechanical strength and inability to promote nerve regeneration hamper their utility as a stand-alone intervention. To overcome these challenges, we engineered composite hydrogels that are neurosupportive and possess strong tissue adhesion...
May 9, 2018: Tissue Engineering. Part A
Jean-Paul R Soucy, Andreea M Slatculescu, Christine Nyiraneza, Nicholas H Ogden, Patrick A Leighton, Jeremy T Kerr, Manisha A Kulkarni
BACKGROUND: Lyme disease (LD) is a bacterial infection transmitted by the black-legged tick (Ixodes scapularis) in eastern North America. It is an emerging disease in Canada due to the expanding range of its tick vector. Environmental risk maps for LD, based on the distribution of the black-legged tick, have focused on coarse determinants such as climate. However, climatic factors vary little within individual health units, the level at which local public health decision-making takes place...
May 2018: Vector Borne and Zoonotic Diseases
Yarden Shalev, Shannon M Soucy, R Thane Papke, J Peter Gogarten, Jerry Eichler, Uri Gophna
Within the Haloferax genus, both the surface (S)-layer protein, and the glycans that can decorate it, vary between species, which can potentially result in many different surface types, analogous to bacterial serotypes. This variation may mediate phenotypes, such as sensitivity to different viruses and mating preferences. Here, we describe S-layer glycoproteins found in multiple Haloferax strains and perform comparative genomics analyses of major and alternative glycosylation clusters of isolates from two coastal sites...
March 20, 2018: Genes
Marie-Ève Desjardins, Andrée-Ann Baril, Jean-Paul Soucy, Thien Thanh Dang-Vu, Alex Desautels, Dominique Petit, Jacques Montplaisir, Antonio Zadra
Study Objectives: The present study assessed brain perfusion patterns with single-photon emission computed tomography (SPECT) during sleepwalkers' post-sleep deprivation slow-wave sleep (SWS) and resting-state wakefulness. Methods: Following a 24 hr period of sleep deprivation, 10 sleepwalkers and 10 sex- and age-matched controls were scanned with a high-resolution SPECT scanner. Participants were injected with 99mTc-ethylene cysteinate dimer after 2 min of stable SWS within their first sleep cycle as well as during resting-state wakefulness, both after a subsequent 24 hr period of sleep deprivation...
May 1, 2018: Sleep
Niccolò Parri, Bradley J Crosby, Lisa Mills, Zachary Soucy, Anna Maria Musolino, Liviana Da Dalt, Angela Cirilli, Laura Grisotto, Nathan Kuppermann
OBJECTIVES: To determine the accuracy of skull point-of-care ultrasound (POCUS) for identifying fractures in children younger than 2 years of age with signs of head trauma, and the ability of POCUS to identify the type and depth of fracture depression. STUDY DESIGN: This was a multicenter, prospective, observational study of children younger than 2 years of age with nontrivial mechanisms of injury and signs of scalp/skull trauma. Patients were enrolled if they underwent computed tomography (CT)...
May 2018: Journal of Pediatrics
Tharick A Pascoal, Sulantha Mathotaarachchi, Monica Shin, Ah Yeon Park, Sara Mohades, Andrea L Benedet, Min Su Kang, Gassan Massarweh, Jean-Paul Soucy, Serge Gauthier, Pedro Rosa-Neto
PURPOSE: We aimed to determine the amyloid (Aβ) and tau biomarker levels associated with imminent Alzheimer's disease (AD) - related metabolic decline in cognitively normal individuals. METHODS: A threshold analysis was performed in 120 cognitively normal elderly individuals by modelling 2-year declines in brain glucose metabolism measured with [18 F]fluorodeoxyglucose ([18 F]FDG) as a function of [18 F]florbetapir Aβ positron emission tomography (PET) and cerebrospinal fluid phosphorylated tau biomarker thresholds...
June 2018: European Journal of Nuclear Medicine and Molecular Imaging
Phillip Fei, Jean-Paul Soucy, Sami Obaid, Olivier Boucher, Alain Bouthillier, Dang Khoa Nguyen
PURPOSE: Operculoinsular epilepsy (OIE) can be challenging to diagnose. While the value of SPECT cerebral blood flow and PET F-FDG studies for presurgical evaluation of patients with medial temporal lobe epilepsy (MTLE) is well established, it remains unclear whether they can help identify an operculoinsular epileptic focus. This study assesses the value of interictal/ictal regional cerebral blood flow (rCBF) SPECT and FDG PET for OIE diagnosis. METHODS: Eighteen patients with proven OIE who underwent interictal/ictal rCBF SPECT and/or FDG-PET prior to epilepsy surgery were identified from our clinical database and were compared with a group of 18 patients who underwent MTLE surgery...
March 2018: Clinical Nuclear Medicine
Philippe Lefrançois, Mathieu Zummo-Soucy, Damien Olivié, Jean-Sébastien Billiard, Guillaume Gilbert, Juliette Garel, Emmanuel Visée, Perrine Manchec, An Tang
OBJECTIVE: To evaluate intravoxel incoherent motion (IVIM) diffusion-weighted imaging (DWI) and dynamic contrast-enhanced (DCE) magnetic resonance imaging (MRI) sequences for quantitative characterization of anal fistula activity. METHODS: This retrospective study was approved by the institutional review board. One hundred and two patients underwent MRI for clinical suspicion of anal fistula. Forty-three patients with demonstrable anal fistulas met the inclusion criteria...
2018: PloS One
Laurence Soucy-Giguère, Cédric Gasse, Yves Giguère, Suzanne Demers, Emmanuel Bujold, Amélie Boutin
BACKGROUND: Intra-amniotic inflammation is associated with adverse pregnancy and neonatal outcomes. However, the impact on child neurodevelopment remains unclear. We aim to assess the effect of intra-amniotic inflammation on neurodevelopmental outcomes in children. METHODS: The databases MEDLINE, Embase, CINAHL, and Cochrane will be searched from their inception until November 2017. Randomized trials and cohort studies in which inflammatory markers were measured in amniotic fluid collected by amniocentesis and in which infant's neurodevelopment was assessed will be eligible...
January 22, 2018: Systematic Reviews
Marc L Hyer, Michael A Milhollen, Jeff Ciavarri, Paul Fleming, Tary Traore, Darshan Sappal, Jessica Huck, Judy Shi, James Gavin, Jim Brownell, Yu Yang, Bradley Stringer, Robert Griffin, Frank Bruzzese, Teresa Soucy, Jennifer Duffy, Claudia Rabino, Jessica Riceberg, Kara Hoar, Anya Lublinsky, Saurabh Menon, Michael Sintchak, Nancy Bump, Sai M Pulukuri, Steve Langston, Stephen Tirrell, Mike Kuranda, Petter Veiby, John Newcomb, Ping Li, Jing Tao Wu, Josh Powe, Lawrence R Dick, Paul Greenspan, Katherine Galvin, Mark Manfredi, Chris Claiborne, Benjamin S Amidon, Neil F Bence
The ubiquitin-proteasome system (UPS) comprises a network of enzymes that is responsible for maintaining cellular protein homeostasis. The therapeutic potential of this pathway has been validated by the clinical successes of a number of UPS modulators, including proteasome inhibitors and immunomodulatory imide drugs (IMiDs). Here we identified TAK-243 (formerly known as MLN7243) as a potent, mechanism-based small-molecule inhibitor of the ubiquitin activating enzyme (UAE), the primary mammalian E1 enzyme that regulates the ubiquitin conjugation cascade...
February 2018: Nature Medicine
Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell
Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacetoacetate hydrolase. HT1 newborns are usually clinically asymptomatic, but have coagulation abnormalities revealing liver dysfunction. Treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine prevents the complications of HT1...
March 2018: Molecular Genetics and Metabolism Reports
He Liu, Wenxing Yang, Taihong Wu, Fengyun Duan, Edward Soucy, Xin Jin, Yun Zhang
Sensorimotor integration regulates goal-directed movements. We study the signaling mechanisms underlying sensorimotor integration in C. elegans during olfactory steering, when the sinusoidal movements of the worm generate an in-phase oscillation in the concentration of the sampled odorant. We show that cholinergic neurotransmission encodes the oscillatory sensory response and the motor state of head undulations by acting through an acetylcholine-gated channel and a muscarinic acetylcholine receptor, respectively...
January 17, 2018: Neuron
Migun Shakya, Shannon M Soucy, Olga Zhaxybayeva
Several bacterial and archaeal lineages produce nanostructures that morphologically resemble small tailed viruses, but, unlike most viruses, contain apparently random pieces of the host genome. Since these elements can deliver the packaged DNA to other cells, they were dubbed gene transfer agents (GTAs). Because many genes involved in GTA production have viral homologs, it has been hypothesized that the GTA ancestor was a virus. Whether GTAs represent an atypical virus, a defective virus, or a virus co-opted by the prokaryotes for some function, remains to be elucidated...
July 2017: Virus Evolution
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