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12 results on '"Vinay Puri"'

1. Acute seizure therapies in people with epilepsy: Fact or fiction? A U.S. Perspective

Author

William O. Tatum, Tracy Glauser, Jurriaan M. Peters, Amit Verma, Sarah Weatherspoon, Selim Benbadis, Danielle A. Becker, Vinay Puri, Michael Smith, Sunita N. Misra, Adrian L. Rabinowicz, and Enrique Carrazana

Subjects
Acute repetitive seizures, Benzodiazepines, Rescue therapy, Seizure cluster, Therapeutic misconception, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495
Abstract

Patients with epilepsy (PWE) may experience seizure emergencies including acute repetitive seizures despite chronic treatment with daily antiseizure medications. Seizures may adversely impact routine daily activities and/or healthcare utilization and may impair the quality of life of patients with epilepsy and their caregivers. Seizures often occur at home, school, or work in a community setting. Appropriate treatment that is readily accessible for patients with seizure urgencies and emergencies is essential outside the hospital setting. When determining the best acute antiseizure therapy for PWE, clinicians need to consider all of the available rescue medications and their routes of administration including the safety and efficacy profiles. Benzodiazepines are a standard of care as a rescue therapy, yet there are several misconceptions about their use and safety. Reevaluating potential misconceptions and formulating best practices are necessary to maximize usage for each available option of acute therapy. We examine common beliefs associated with traditional use of acute seizure therapies to refute or support them based on the current level of evidence in the published literature.

Published
2023
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2. A Rare Case of Spontaneous Arachnoid Cyst Rupture Presenting as Right Hemiplegia and Expressive Aphasia in a Pediatric Patient

Author

Anne Bryden, Natalie Majors, Vinay Puri, and Thomas Moriarty

Subjects
pediatrics, arachnoid cysts, spontaneous rupture, aphasia, neurological deficits, Pediatrics, RJ1-570
Abstract

This study examines an 11-year-old boy with a known history of a large previously asymptomatic arachnoid cyst (AC) presenting with acute onset of right facial droop, hemiplegia, and expressive aphasia. Shortly after arrival to the emergency department, the patient exhibited complete resolution of right-sided hemiplegia but developed headache and had persistent word-finding difficulties. Prior to symptom onset while in class at school, there was an absence of reported jerking movements, headache, photophobia, fever, or trauma. At the time of neurology consultation, the physical exam showed mildly delayed cognitive processing but was otherwise unremarkable. The patient underwent MRI scanning of the brain, which revealed left convexity subdural hematohygroma and perirolandic cortex edema resulting from ruptured left frontoparietal AC. He was evaluated by neurosurgery and managed expectantly. He recovered uneventfully and was discharged two days after presentation remaining asymptomatic on subsequent outpatient visits. The family express concerns regarding increased anxiety and mild memory loss since hospitalization.

Published
2021
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3. Middle Cerebral Artery Stroke as Amusement Park Injury: Case Report and Review of the Literature

Author

Abby Baumgartle, Laura Wolfe, Vinay Puri, Karen Moeller, Salvatore Bertolone, and Ashok Raj

Subjects
Pediatric stroke, amusement park injury, Middle cerebral artery stroke, Pediatrics, RJ1-570
Abstract

Strokes as amusement park injuries are rare, but have been reported in the literature. Only about 20 cases of cerebrovascular accidents after amusement park visits have been described. We report a healthy 12-year-old boy who presented with facial droop, slurred speech, and inability to use his right arm after riding roller coasters at a local amusement park. He was evaluated and found to have a left middle cerebral artery (MCA) infarction. The patient was treated with anticoagulants and has recovered with no major residual symptoms. It is likely that his neurological symptoms occurred due to the high head accelerations experienced on the roller coasters, which are more detrimental to children due to immature cervical spine development and muscle strength. Early diagnosis of dissection and stroke results in a favorable prognosis. Providers and parents should be aware of the potential risk of roller coasters and act quickly on neurologic changes in children that have recently been to an amusement park.

Published
2017
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6. A Rare Case of Spontaneous Arachnoid Cyst Rupture Presenting as Right Hemiplegia and Expressive Aphasia in a Pediatric Patient

Author

Thomas Moriarty, Vinay Puri, Anne Bryden, and Natalie Majors

Subjects
arachnoid cysts, medicine.medical_specialty, Neurology, Photophobia, pediatrics, business.industry, lcsh:RJ1-570, Case Report, lcsh:Pediatrics, Emergency department, medicine.disease, Asymptomatic, aphasia, Surgery, spontaneous rupture, Expressive aphasia, Arachnoid cyst, Aphasia, Pediatrics, Perinatology and Child Health, medicine, Neurosurgery, medicine.symptom, business, neurological deficits
Abstract

This study examines an 11-year-old boy with a known history of a large previously asymptomatic arachnoid cyst (AC) presenting with acute onset of right facial droop, hemiplegia, and expressive aphasia. Shortly after arrival to the emergency department, the patient exhibited complete resolution of right-sided hemiplegia but developed headache and had persistent word-finding difficulties. Prior to symptom onset while in class at school, there was an absence of reported jerking movements, headache, photophobia, fever, or trauma. At the time of neurology consultation, the physical exam showed mildly delayed cognitive processing but was otherwise unremarkable. The patient underwent MRI scanning of the brain, which revealed left convexity subdural hematohygroma and perirolandic cortex edema resulting from ruptured left frontoparietal AC. He was evaluated by neurosurgery and managed expectantly. He recovered uneventfully and was discharged two days after presentation remaining asymptomatic on subsequent outpatient visits. The family express concerns regarding increased anxiety and mild memory loss since hospitalization.

Published
2021

7. Acetazolamide-Induced Aseptic Meningitis in a Female Adolescent with Idiopathic Intracranial Hypertension: A Case Report

Author

Vinay Puri, Rekha K. Gupta, and Christopher Barton

Subjects
0301 basic medicine, Pediatrics, medicine.medical_specialty, Nonsteroidal, medicine.drug_class, business.industry, Antibiotics, Aseptic meningitis, Female adolescent, 030105 genetics & heredity, medicine.disease, Patient management, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Cerebrospinal fluid culture, Acetazolamide, business, Pleocytosis, 030217 neurology & neurosurgery, medicine.drug
Abstract

Drug-induced aseptic meningitis (DIAM) has been documented for many years and is considered a diagnostic and patient management challenge. Associated medications include nonsteroidal anti-inflammatory drugs, antibiotics, and monoclonal antibodies, but no cases associated with acetazolamide have been reported. We briefly review a case of a 15-year-old female patient with history of idiopathic intracranial hypertension whose symptoms of aseptic meningitis associated with the use and increase of acetazolamide. DIAM should be considered a possibility in any patient with meningeal symptoms, pleocytosis, and negative cerebrospinal fluid culture. This is the first known case linking acetazolamide to DIAM.

Published
2019
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8. Spinal Epidural Lipomatosis: A Rare Complication From Hormonal Therapy for Infantile Spasms

Author

Karen L. Skjei, Sonam Bhalla, and Vinay Puri

Subjects
Male, medicine.medical_specialty, Lipomatosis, Adipose tissue, Spinal Cord Diseases, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Spinal cord compression, Adrenal Cortex Hormones, 030225 pediatrics, medicine, Humans, Spinal canal, business.industry, Infant, medicine.disease, Magnetic Resonance Imaging, Surgery, Spinal epidural, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Hormonal therapy, Female, Neurology (clinical), Complication, business, Spasms, Infantile, 030217 neurology & neurosurgery, Hormone
Abstract

Background Spinal epidural lipomatosis (SEL) represents pathologic overgrowth of extradural adipose tissue in the spinal canal that can result in spinal cord compression. SEL has been associated with excess corticosteroids, whether from exogenous steroid use or from excess endogenous steroids. Spinal epidural lipomatosis is rarely reported in children and has not been reported in association with hormonal therapy for infantile spasms. Methods We performed a detailed retrospective chart and literature review. Results We describe two children with symptomatic SEL associated with the use of high-dose hormone treatment for infantile spasms.

Published
2019

9. Middle Cerebral Artery Stroke as Amusement Park Injury: Case Report and Review of the Literature

Author

Salvatore Bertolone, Ashok Raj, Abby Baumgartle, Vinay Puri, Laura Wolfe, and Karen Moeller

Subjects
medicine.medical_specialty, pediatric stroke, business.industry, lcsh:RJ1-570, Poison control, Infarction, lcsh:Pediatrics, Case Report, middle cerebral artery stroke, medicine.disease, Suicide prevention, Occupational safety and health, 03 medical and health sciences, Dissection, 0302 clinical medicine, amusement park injury, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Injury prevention, medicine, Physical therapy, Pediatric stroke, business, Stroke, 030217 neurology & neurosurgery
Abstract

Strokes as amusement park injuries are rare, but have been reported in the literature. Only about 20 cases of cerebrovascular accidents after amusement park visits have been described. We report a healthy 12-year-old boy who presented with facial droop, slurred speech, and inability to use his right arm after riding roller coasters at a local amusement park. He was evaluated and found to have a left middle cerebral artery (MCA) infarction. The patient was treated with anticoagulants and has recovered with no major residual symptoms. It is likely that his neurological symptoms occurred due to the high head accelerations experienced on the roller coasters, which are more detrimental to children due to immature cervical spine development and muscle strength. Early diagnosis of dissection and stroke results in a favorable prognosis. Providers and parents should be aware of the potential risk of roller coasters and act quickly on neurologic changes in children that have recently been to an amusement park.

Published
2017

10. Spinal Cord Infarction in Hemoglobin SC Disease as an Amusement Park Accident

Author

Ashok Raj, Vinay Puri, Salvatore Bertolone, Darren Farber, and Ryan Eid

Subjects
Pediatrics, medicine.medical_specialty, Embolism, Infarction, Poison control, Disease, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Injury prevention, Medicine, Humans, Child, Hemoglobin SC Disease, business.industry, Spinal Cord Ischemia, Emergency department, medicine.disease, Diagnosis of exclusion, Spinal Cord, Accidents, Pediatrics, Perinatology and Child Health, Cervical Vertebrae, Recreation, Female, business, human activities, 030217 neurology & neurosurgery
Abstract

Spinal cord infarction (SCI) is extremely rare in children, and only 2 other reports have described the occurrence of SCI in patients with hemoglobin SC disease (HbSC). Amusement park accidents are serious injuries. Patients with preexisting conditions, such as hypertension, cardiac disease, and recent back or neck injuries, may be at an increased risk. We report the case of a 12-year-old girl with HbSC with a past history of only 2 admissions for pain crises, who presented to the emergency department with symptoms of SCI after riding a roller coaster. Fibrocartilaginous embolism (FCE) is an increasingly recognized cause of SCI after events that put strain on the axial skeleton, such as many amusement park rides. Although radiologic criteria for FCE have been proposed, FCE remains a diagnosis of exclusion. To the best of our knowledge, this is the first documented case of SCI in a patient with HbSC and the first case of FCE after an amusement park accident. This case report highlights that HbSC may confound the differential diagnosis of SCI and aims to document an association with FCE in pediatric patients.

Published
2016

11. New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis

Author

S. Louis Bridges, Jim van Os, Niek de Vries, Michael Conlon O'Donovan, Joshua C. Denny, Markus M. Nöthen, Wolfgang Maier, Mart A F J van de Laar, Lars Klareskog, Soumya Raychaudhuri, Matthew C. Keller, Bryan J. Mowry, Michael Gill, Susmita Datta, Alexander Gusev, Leonid Padyukov, Benjamin M. Neale, Robert Krasucki, Douglas F. Levinson, Jacob Lawrence, Rita M. Cantor, Christina M. Hultman, Elaine Kenny, Annette M. Hartmann, Ole A. Andreassen, Jeff Greenberg, Lieuwe de Haan, Manuel Mattheisen, Bettina Konte, Ingrid Agartz, Marion Friedl, T. Scott Stroup, Anil K. Malhotra, Kenneth S. Kendler, Carlos N. Pato, Nicholas John Craddock, Srinivasa Thirumalai, Piet L. C. M. van Riel, Stephan Ripke, Enda M. Byrne, George Kirov, Richard Bruggeman, Andrew M. McIntosh, Khalid Choudhury, Eli A. Stahl, Farooq Amin, Marieke J H Coenen, Jeffrey A. Lieberman, Tom W J Huizinga, Robert Freedman, Pablo V. Gejman, Jubao Duan, Durk Wiersma, Patrik K. E. Magnusson, Maria Helena Pinto de Azevedo, Douglas Blackwood, William Byerley, Don H. Linszen, Srdjan Djurovic, Pamela Sklar, Peter K. Gregersen, Todd Lencz, Marcella Rietschel, David Curtis, Danielle Posthuma, Stanley Zammit, Phil Lee, Lizzy Rossin, Yukinori Okada, Henrik B. Rasmussen, Ann Olincy, Anna A. E. Vinkhuyzen, Aiden Corvin, Gary Donohoe, Jonathan Pimm, Yunjung Kim, Alan R. Sanders, Steven A. McCarroll, Ayman H. Fanous, John J. McGrath, Wiepke Cahn, Sven Cichon, Thomas Hansen, Paul P. Tak, Alkes L. Price, Vihra Milanova, Andres Ingason, Patrick F. Sullivan, Xavier Mariette, Ina Giegling, Michael John Owen, Michele T. Pato, Robert Karlsson, Thomas Werge, Ingrid Melle, Nelson B. Freimer, Line Olsen, Jane Worthington, S. Hong Lee, Peter Holmans, Thomas Frisell, Hugh Gurling, Robert C. Cloninger, Andrew McQuillin, Shaun Purcell, Helena Medeiros, Divya Mehta, Katherine A. Siminovitch, Nicholas Bass, Digby Quested, Inez Myin-Germeys, Anna K. Kähler, Peter M. Visscher, Valentina Escott-Price, Nancy G. Buccola, Donald W. Black, Dan Rujescu, Thomas G. Schulze, Danyu Lin, Vasilis X Mantzioris, Xinli Hu, René S. Kahn, Vinay Puri, Naomi R. Wray, Qiongyi Zhao, Jeremy M. Silverman, Mark J. Daly, Benjamin S. Pickard, Jianxin Shi, Colm O'Dushlaine, Morten Mattingsdal, Philippe Dieud, Marian L. Hamshere, Robert M. Plenge, Frank Dudbridge, Derek W. Morris, Douglas M. Ruderfer, Paul Cormican, Lyudmila Georgieva, Philip L. De Jager, Hyon K. Choi, Lydia Krabbendam, David St Clair, Roel A. Ophoff, Psychiatrie & Neuropsychologie, MUMC+: MA Psychiatrie (3), MUMC+: Hersen en Zenuw Centrum (3), RS: MHeNs - R2 - Mental Health, Complex Trait Genetics, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Amsterdam Neuroscience, Adult Psychiatry, Amsterdam institute for Infection and Immunity, Clinical Immunology and Rheumatology, Lee, S Hong, Byrne, Enda M, Hultman, Christina M, Kahler, Anna, Wray, Naomi R, Schizophrenia Working Group of the Psychiatric Genomics Consortium, and Rheumatoid Arthritis Consortium International

Subjects
rheumatoid arthritis, Adult, Male, Adolescent, Epidemiology, Single-nucleotide polymorphism, Genome-wide association study, Biology, Genetic correlation, Polymorphism, Single Nucleotide, Arthritis, Rheumatoid, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Rheumatoid, pleiotropy, Genetic variation, Genotype, medicine, SNP, Humans, Genetic Predisposition to Disease, Bipolar disorder, Polymorphism, Gene–environment interaction, genome, Public, Environmental & Occupational Health, 030304 developmental biology, Genetics, 0303 health sciences, Arthritis, Genetic Variation, Single Nucleotide, General Medicine, Middle Aged, medicine.disease, genetic relationship, 3. Good health, Miscellaneous, schizophrenia, Cross-Sectional Studies, Schizophrenia, Female, Gene-Environment Interaction, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Background: A long-standing epidemiological puzzle is the reduced rate of rheumatoid arthritis (RA) in those with schizophrenia (SZ) and vice versa. Traditional epidemiological approaches to determine if this negative association is underpinned by genetic factors would test for reduced rates of one disorder in relatives of the other, but sufficiently powered data sets are difficult to achieve. The genomics era presents an alternative paradigm for investigating the genetic relationship between two uncommon disorders. Methods: We use genome-wide common single nucleotide polymorphism (SNP) data from independently collected SZ and RA case-control cohorts to estimate the SNP correlation between the disorders. We test a genotype X environment (GxE) hypothesis for SZ with environment defined as winter- vs summer-born. Results: We estimate a small but significant negative SNP-genetic correlation between SZ and RA (−0.046, s.e. 0.026, P = 0.036). The negative correlation was stronger for the SNP set attributed to coding or regulatory regions (−0.174, s.e. 0.071, P = 0.0075). Our analyses led us to hypothesize a gene-environment interaction for SZ in the form of immune challenge. We used month of birth as a proxy for environmental immune challenge and estimated the genetic correlation between winter-born and non-winter born SZ to be significantly less than 1 for coding/regulatory region SNPs (0.56, s.e. 0.14, P = 0.00090). Conclusions: Our results are consistent with epidemiological observations of a negative relationship between SZ and RA reflecting, at least in part, genetic factors. Results of the month of birth analysis are consistent with pleiotropic effects of genetic variants dependent on environmental context. Refereed/Peer-reviewed

Published
2015
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12. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Author

Anita Thapar, Lena Backlund, Lindsey Kent, Walter J. Muir, A. Jeremy Willsey, Sandra K. Loo, Michael Boehnke, Christa Lese Martin, Ania Korszun, Guiomar Oliveira, Veronica J. Vieland, Stephen W. Scherer, René S. Kahn, Darina Czamara, Jeremy R. Parr, Michael E. Goddard, Willem A. Nolen, Josep Antoni Ramos-Quiroga, Stephen Sanders, Karola Rehnstroem, Nelson B. Freimer, Erin N. Smith, Ann Olincy, Ingrid Melle, Myrna M. Weissman, James A. Knowles, William Byerley, Aravinda Chakravarti, Shaun Purcell, Jens Treutlein, Sebastian Zoellner, Hakon Hakonarson, Susanne Lucae, Markus M. Noethen, Ian B. Hickie, Marion Friedl, Srinivasa Thirumalai, Stephen Newhouse, Joseph Piven, Andrew M. McIntosh, Cathryn M. Lewis, Srdjan Djurovic, Francis J. McMahon, Ayman H. Fanous, Bernie Devlin, Steven A. McCarroll, Alan F. Schatzberg, Peter Szatmari, Marta Ribasés, C. Robert Cloninger, Brenda W.J.H. Penninx, Gerard van Grootheest, Phil Lee, Richard Anney, Elaine K. Green, Geraldine Dawson, Joseph A. Sergeant, Digby Quested, Magdalena Gross, Jack D. Barchas, Nicholas G. Martin, Timothy W. Yu, Jouke-Jan Hottenga, Mark Lathrop, Federica Tozzi, Martin Hautzinger, Alysa E. Doyle, Cinnamon S. Bloss, Sandra Meier, Louise Gailagher, David A. Collier, Farooq Amin, Michael C. Neale, Martin Schalling, Lieuwe de Haan, Bru Cormand, Falk W. Lohoff, Jennifer Crosbie, Howard J. Edenberg, Aarno Palotie, Johannes H. Smit, Robert Freedman, Katherine Gordon-Smith, Michele L. Pergadia, Enda M. Byrne, Hans-Christoph Steinhausen, Benjamin M. Neale, Anjali K. Henders, Michele T. Pato, Manuel Mattheisen, Urban Ösby, Edward M. Scolnick, Evaristus A. Nwulia, Fritz Poustka, Gonneke Willemsen, Andrew C. Heath, David St. Cair, Emma M. Quinn, I. Nicol Ferrier, John R. Kelsoe, Vanessa Hus, Andrew McQuillin, John P. Rice, William M. McMahon, Joseph Biederman, Danyu Lin, Wolfgang Maier, Frans G. Zitman, Josephine Elia, Nicholas J. Schork, Stéphane Jamain, Lizzy Rossin, Jubao Duan, Ingrid Agartz, Devin Absher, Jordan W. Smoller, Matthew W. State, Richard M. Myers, Shrikant Mane, Carlos N. Pato, William E. Bunney, Marian L. Hamshere, Manfred Uhr, Nicholas John Craddock, Astrid M. Vicente, Tobias Banaschewski, David Curtis, Anne Farmer, Scott D. Gordon, Anna K. Kaehler, Eric M. Morrow, Marcella Rietschel, Patrik K. E. Magnusson, Klaus-Peter Lesch, Rebecca McKinney, Jana Strohmaier, Thomas F. Wienker, Pablo V. Gejman, Douglas Blackwood, Maria Helena Pinto de Azevedo, Tiffany A. Greenwood, Don H. Linszen, Daniel L. Koller, Richard Bruggeman, Vinay Puri, Naomi R. Wray, Stanley J. Watson, Elena Maestrini, Valentina Moskvina, Frank Dudbridge, Danielle Posthuma, Edward G. Jones, Lambertus Klei, Sarah E. Bergen, Fan Meng, Steven P. Hamilton, Guy A. Rouleau, Pierandrea Muglia, Mikael Landén, Stephanie H. Witt, Laramie E. Duncan, Stanley Zammit, Judith A. Badner, Florian Holsboer, Eco J. C. de Geus, Daniel Moreno-De-Luca, Benjamin S. Pickard, Gunnar Morken, Michael Conlon O'Donovan, Michael Steffens, Kathryn Roeder, Dorret I. Boomsma, Paul D. Shilling, Stephan Ripke, Nigel Williams, Jeremy M. Silverman, David Craig, Mark J. Daly, Michael Bauer, Detelina Grozeva, Markus J. Schwarz, Peter Holmans, Hugh Gurling, T. Scott Stroup, Aribert Rothenberger, Gary Donohoe, Eric Fombonne, Joseph D. Buxbaum, Matthew Flicldnger, Bryan J. Mowry, Thomas Hansen, Ina Giegling, Grant W. Montgomery, Caroline M. Nievergelt, Susan L. Smalley, Jung-Ying Tzeng, David H. Ledbetter, Christopher A. Walsh, Gerard D. Schellenberg, Sarah E. Medland, Robert D. Oades, James B. Potash, Dan E. Arking, Johannes Schumacher, Michael Gill, James J. McGough, Jennifer L. Moran, Donald W. Black, Sian Caesar, Neelroop N. Parikshak, Ian W. Craig, Sabine M. Klauck, Wade H. Berrettini, T. Foroud, Peter P. Zandi, Inez Myin-Germeys, Marcus Ising, Sven Cichon, Alexandre A. Todorov, Mònica Bayés, Thomas Werge, Susan L. Slager, Stanley I. Shyn, Jim van Os, Derek W. Morris, Douglas M. Ruderfer, Thomas W. Muehleisen, Matthew C. Keller, Susmita Datta, Ian Jones, John B. Vincent, James L. Kennedy, Anthony P. Monaco, Jianxin Shi, Dale R. Nyholt, Bruno Etain, Christine Fraser, Paul Cormican, Miguel Casas, Radhika Kandaswamy, Gerome Breen, Stephen V. Faraone, Jonna Kuntsi, Thomas Bettecken, Witte J.G. Hoogendijk, Nancy G. Buccola, Franziska Degenhardt, Lyudmila Georgieva, Marion Leboyer, Alan R. Sanders, John Strauss, Dan Rujescu, Russell Schachar, Helena Medeiros, Lisa Jones, Peter M. Visscher, Lauren A. Weiss, René Breuer, John I. Nurnberger, Andreas Reif, Phoenix Kwan, Vihra Milanova, Chunyu Liu, Martin A. Kohli, Donald J. MacIntyre, Nicholas Bass, Khalid Choudhury, Edwin H. Cook, Catherine Lord, Andrew D. Paterson, Jobst Meyer, Richard P. Ebstein, Zhaoming Zhao, Niklas Laengstroem, Thomas G. Schulze, Peter Propping, Wei Xu, Robert C. Thompson, Kimberly Chambert, Jonathan Pimm, Ivan Nikolov, Pamela A. F. Madden, Kevin A. McGhee, Jacob Lawrence, Jan K. Buitelaar, Andres Ingason, Christine M. Freitag, Robert Krasucki, Wiepke Cahn, Rita M. Cantor, Christina M. Hultman, Melvin G. McInnis, Catalina Betancur, Eftichia Duketis, Michael T. Murtha, Thomas H. Wassink, Philip Asherson, John S. Witte, Elaine Kenny, Edmund J.S. Sonuga-Barke, Lydia Krabbendam, Line Olsen, Agatino Battaglia, Laura J. Scott, Annette M. Hartmann, Yunjung Kim, Richard O. Day, Edwin J. C. G. van den Oord, Ole A. Andreassen, Herbert Roeyers, Michael John Owen, Colm O'Dushlaine, Peng Zhang, Morten Mattingsdal, Michael L. Cuccaro, Margaret A. Pericak-Vance, Joachim Hallmayer, Jun Li, Pamela B. Mahon, Elisabeth B. Binder, William A. Scheftner, Daniel H. Geschwind, Christel M. Middeldorp, Josef Frank, Keith Matthews, Jennifer K. Lowe, Paul Lichtenstein, Verneri Anttila, Pamela Sklar, Szabocls Szelinger, Roel A. Ophoff, Peter McGuffin, Stefan Herms, Bettina Konte, George Kirov, Hilary Coon, Maria Hipolito, Louise Frisén, Kenneth S. Kendler, Frank Bellivier, James S. Sutdiffe, Jeffrey A. Lieberman, Todd Lencz, Susanne Hoefels, Alan W. McLean, Barbara Franke, Huda Akil, Soumya Raychaudhuri, Ellen M. Wijsman, Vishwajit L. Nimgaonkar, Roy H. Perlis, Patrick J. McGrath, Susan L. Santangelo, William Coryell, Henrik B. Rasmussen, Weihua Guan, William Lawson, Elliot S. Gershon, Sean Ennis, Aiden Corvin, Allan H. Young, Thomas B. Barrett, Jonathan L. Haines, Douglas F. Levinson, Ana Miranda, Anil K. Malhotra, S. Hong Lee, Stan F. Nelson, Anthony J. Bailey, Patrick F. Sullivan, Dorothy E. Grice, Lefkos T. Middleton, Bertram Mueller-Myhsok, Michael R. 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Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Human genetics, Psychiatry, NCA - Brain mechanisms in health and disease, NCA - Neurobiology of mental health, EMGO - Mental health, Child and Adolescent Psychiatry / Psychology, Epidemiology, Gastroenterology & Hepatology, Hematology, University of St Andrews. School of Medicine, University of St Andrews. Institute of Behavioural and Neural Sciences, Psychiatrie & Neuropsychologie, MUMC+: MA Psychiatrie (3), MUMC+: Hersen en Zenuw Centrum (3), RS: MHeNs - R2 - Mental Health, ANS - Amsterdam Neuroscience, Adult Psychiatry, Child Psychiatry, Universitat de Barcelona, Perceptual and Cognitive Neuroscience (PCN), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Neurosciences Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Complex Trait Genetics, Biological Psychology, Educational Neuroscience, Clinical Neuropsychology, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, LEARN! - Social cognition and learning, LEARN! - Brain, learning and development, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Mental Health, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), O'Dushlaine, Colm, Rossin, Lizzy, Lee, Phil H, Duncan, Laramie, Lee, S Hong, Breen, Gerome, International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium, and Myin-Germeys, Inez

Subjects
Netherlands Twin Register (NTR), Statistical methods, Autism, Medizin, LOCI, Genome-wide association study, heritability, Genome-wide association studies, Histones, Genètica mèdica, 0302 clinical medicine, Histone methylation, Databases, Genetic, 2.1 Biological and endogenous factors, Psychology, GWAS, Aetiology, Psychiatric genetics, R2C, bipolar disorder, Psychiatry, 0303 health sciences, Disorders, Loci, Depression, General Neuroscience, Mental Disorders, Medical genetics, METHYLATION, Brain, 3rd-DAS, Serious Mental Illness, Psychiatric Disorders, 3. Good health, Histone, Mental Health, Schizophrenia, Mental Disorder, Cognitive Sciences, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Promoters, BDC, BURDEN, RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry, Human, Signal Transduction, medicine.medical_specialty, DISORDERS, Genomics, Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium, Burden, Biology, Methylation, Article, Biological pathway, PROMOTERS, 03 medical and health sciences, Databases, Genetic, medicine, Genetics, Humans, Genetic Predisposition to Disease, histone methylation, Bipolar disorder, Psiquiatria, AUTISM, 030304 developmental biology, Genetic association, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neurology & Neurosurgery, Neuroscience (all), Human Genome, Neurosciences, medicine.disease, Brain Disorders, Good Health and Well Being, DE-NOVO MUTATIONS, Perturbações do Desenvolvimento Infantil e Saúde Mental, RC0321, Genome-wide Association Studies, De-novo mutations, major depression, Neuroscience, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported by US National Institute of Mental Health (NIMH) grant K99MH101367. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple immune and neuronal signaling pathways and with the postsynaptic density. Our study indicates that risk variants for psychiatric disorders aggregate in particular biological pathways and that these pathways are frequently shared between disorders. Our results confirm known mechanisms and suggest several novel insights into the etiology of psychiatric disorders. Postprint

Published
2015
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