DOCSLIB.ORG

University of London Thesis

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text

Load more

REFERENCE ONLY UNIVERSITY OF LONDON THESIS Degree Y e a r^ io o V Name of Author f>rvNjtvD' C O P Y R IG H T This is a thesis accepted for a Higher Degree of the University of London. It is an unpublished typescript and the copyright is held by the author. All persons consulting the thesis must read and abide by the Copyright Declaration below. COPYRIGHT DECLARATION I recognise that the copyright of the above-described thesis rests with the author and that no quotation from it or information derived from it may be published without the prior written consent of the author. LOANS Theses may not be lent to individuals, but the Senate House Library may lend a copy to approved libraries within the United Kingdom, for consultation solely on the premises of those libraries. Application should be made to: Inter-Library Loans, Senate House Library, Senate House, Malet Street, London WC1E 7HU. REPRODUCTION University of London theses may not be reproduced without explicit written permission from the Senate House Library. Enquiries should be addressed to the Theses Section of the Library. Regulations concerning reproduction vary according to the date of acceptance of the thesis and are listed below as guidelines. A. Before 1962. Permission granted only upon the prior written consent of the author. (The Senate House Library will provide addresses where possible). B. 1962- 1974. In many cases the author has agreed to permit copying upon completion of a Copyright Declaration. C. 1975 - 1988. Most theses may be copied upon completion of a Copyright Declaration. D. 1989 onwards. Most theses may be copied. This thesis comes within category D. This copy has been deposited in the Library of This copy has been deposited in the Senate House Library, Senate House, Malet Street, London WC1E 7HU. Blissett Bookbindt 020 8992 3965 Linkage Analysis of Mendelian Forms of Complex Disorders in a South American Population By Nicolas Guillermo Pineda-Trujillo Submitted for the degree of Doctor of Philosophy University College London, UCL September 2005 The Galton Laboratory Wolfson House 4 Stephenson Way London NW1 2HE UMI Number: U593114 All rights reserved INFORMATION TO ALL USERS The quality of this reproduction is dependent upon the quality of the copy submitted. In the unlikely event that the author did not send a complete manuscript and there are missing pages, these will be noted. Also, if material had to be removed, a note will indicate the deletion. Dissertation Publishing UMI U593114 Published by ProQuest LLC 2013. Copyright in the Dissertation held by the Author. Microform Edition © ProQuest LLC. All rights reserved. This work is protected against unauthorized copying under Title 17, United States Code. ProQuest LLC 789 East Eisenhower Parkway P.O. Box 1346 Ann Arbor, Ml 48106-1346 To my Mother and to the memory o f my Father, who passed away during the time I was in London doing my PhD. ACKNOWLEDGMENTS I am very grateful to my supervisors, Andres and Dallas, for all the help, patience and support they gave to me during these three years. I, sometimes, did not have anyone else to tell about my worry than themselves, and always found support and relief in their words. Special thanks to Andres, for keeping on supporting me since we met in Colombia (1996), whilst I was still an undergraduate. My career owes much to you. Special thanks to Dallas for her patience with this “naughty boy”. I have learned loads from you. I also would like to thank my collaborators and friends in Colombia, specially Doctors Comejo, Lopera, Carrizosa and Sonia Moreno. I enjoy working with you all and appreciate your friendship. Thanks also to my colleagues in the Galton lab. Special thanks to Danny, for the moments of laughter and those “quick drinks”. Thanks to Ibi for helping me with my English, to Sijia for your friendship and interesting conversations; to Barbara, Coni, Ning Ning, Winston, James (Ibi’s husband), Luis and Lupe. Thanks guys for everything. Special thanks also to Fabrice, Ian Evans and Jacques Gianino. I can not finish without mentioning the immense support given to me by Kevin Fowler, the postgraduate coordinator in Biology. Thanks very much. Special thanks to Katherine Montague for proof reading some chapters of this thesis. You offered me your help and it will never be forgotten. God bless you. Thanks to COLCIENCIAS for funding me during this journey. Linkage Analysis of Mendelian forms of Complex Disorders in a South American Population Abstract Genetic analysis in Mendelian forms of complex disorders may help increase our understanding of the biology of these disorders. Genes identified in Mendelian forms could also be relevant for disease susceptibility of the more common forms of the disease. I have studied a collection of patient samples from Antioquia, Colombia, including Mendelian and sporadic forms of four well characterized diseases: Parkinson’s [PD], Generalized epilepsy with Febrile Seizures Plus [GEFS+], Batten’s disease and Type 1 Diabetes [T1D]. In addition, I studied two extended families with unusual disorders. Affected individuals in one family presented with episodic crisis of abdominal pain, possibly corresponding to Abdominal Epilepsy [AE]. Patients from the other family presented with a multiform movement disorder [MMD], at times diagnosed as Parkinson’s or Huntington’s disease. Brain pathology from an affected individual showed the presence of iron deposits as a key finding. I subsequently performed linkage analysis of these families. Initial analysis focused on testing linkage to known candidate genes or regions. If these proved negative or if no candidate gene/region was available, a genome scan was then conducted. I have excluded all previously known genes/loci in two out of six families with GEFS+. The remaining four families were found linked to either SCN1A or GABRG2 genes. In a family with Parkinson disease, a novel mutation was identified in exon 3 of the PARK2 gene. It was not possible to establish whether a common chromosome was involved in the same mutation reported separately by both a Spanish group and we since those mutant chromosomes are presenting a very different haplotype in both populations. In Batten disease, the first mutation in CLN5 gene outside Europe was found, which leads to a variant of the juvenile form rather than to a late infantile presentation of Neuronal Ceroid Lipofuscinosis. For TID, a haplotype on chromosome 2 was found to be segregating with the disease in a large family with autoimmune T1D. Regarding the two genome wide scans, in MMD, suggestion of linkage to two functionally candidate genes was found. These are the Neurogolobin (NGB) and the Ferritin heavy polypeptide (FTH1) genes. In Abdominal epilepsy, a locus was identified on chromosome 8 and fine mapping led to the identification of a critical region extending 1.3 Mb at 8ql3. LINKAGE ANALYSIS OF MENDELIAN FORMS OF COMPLEX DISORDERS IN A SOUTH AMERICAN POPULATION TABLE OF CONTENTS Dedication Acknowledgements ABSTRACT List of Tables ............................................................................................................. XII List of Figures ............................................................................................................ XIV CHAPTER ONE INTRODUCTION................................................................................................................ 1 1. Gene mapping of complex traits ..................................................................................... 3 2. Linkage analysis in Mendelian traits ..............................................................................4 2.1 The beginning of a positional cloning study ........................................................... 4 2.2 The first successes of positional cloning ..................................................................5 2.3 Simple inheritance .....................................................................................................6 2.4 Homozygosity mapping ............................................................................................6 3. Genetic Markers................................................................................................................7 4. Databases for genes identified ..................................................................................................8 4.1 Disease associated genes ........................................................................................... 8 4.2 Type and frequency of mutations , ............................................................... 8 5. Isolate populations ............................................................................................................9 6. Antioquia (Colombia) .....................................................................................................10 7. Aims................................................................................................................................. 13 Specific aim s ...............................................................................................................13 V CHAPTER TWO METHODS......................................................................................................................... 14 1. Methods of analysis, Basic Principles and implementation ..........................................15 1.1 Linkage Analysis ......................................................................................................15 1.2 Power simulations ...................................................................................................
Recommended publications
  • Exploring Prostate Cancer Genome Reveals Simultaneous Losses of PTEN, FAS and PAPSS2 in Patients with PSA Recurrence After Radical Prostatectomy

    Exploring Prostate Cancer Genome Reveals Simultaneous Losses of PTEN, FAS and PAPSS2 in Patients with PSA Recurrence After Radical Prostatectomy

    Int. J. Mol. Sci. 2015, 16, 3856-3869; doi:10.3390/ijms16023856 OPEN ACCESS International Journal of Molecular Sciences ISSN 1422-0067 www.mdpi.com/journal/ijms Article Exploring Prostate Cancer Genome Reveals Simultaneous Losses of PTEN, FAS and PAPSS2 in Patients with PSA Recurrence after Radical Prostatectomy Chinyere Ibeawuchi 1, Hartmut Schmidt 2, Reinhard Voss 3, Ulf Titze 4, Mahmoud Abbas 5, Joerg Neumann 6, Elke Eltze 7, Agnes Marije Hoogland 8, Guido Jenster 9, Burkhard Brandt 10 and Axel Semjonow 1,* 1 Prostate Center, Department of Urology, University Hospital Muenster, Albert-Schweitzer-Campus 1, Gebaeude 1A, Muenster D-48149, Germany; E-Mail: [email protected] 2 Center for Laboratory Medicine, University Hospital Muenster, Albert-Schweitzer-Campus 1, Gebaeude 1A, Muenster D-48149, Germany; E-Mail: [email protected] 3 Interdisciplinary Center for Clinical Research, University of Muenster, Albert-Schweitzer-Campus 1, Gebaeude D3, Domagkstrasse 3, Muenster D-48149, Germany; E-Mail: [email protected] 4 Pathology, Lippe Hospital Detmold, Röntgenstrasse 18, Detmold D-32756, Germany; E-Mail: [email protected] 5 Institute of Pathology, Mathias-Spital-Rheine, Frankenburg Street 31, Rheine D-48431, Germany; E-Mail: [email protected] 6 Institute of Pathology, Klinikum Osnabrueck, Am Finkenhuegel 1, Osnabrueck D-49076, Germany; E-Mail: [email protected] 7 Institute of Pathology, Saarbrücken-Rastpfuhl, Rheinstrasse 2, Saarbrücken D-66113, Germany; E-Mail: [email protected] 8 Department
  • Tepzz¥ 6Z54za T

    Tepzz¥ 6Z54za T

    (19) TZZ¥ ZZ_T (11) EP 3 260 540 A1 (12) EUROPEAN PATENT APPLICATION (43) Date of publication: (51) Int Cl.: 27.12.2017 Bulletin 2017/52 C12N 15/113 (2010.01) A61K 9/127 (2006.01) A61K 31/713 (2006.01) C12Q 1/68 (2006.01) (21) Application number: 17000579.7 (22) Date of filing: 12.11.2011 (84) Designated Contracting States: • Sarma, Kavitha AL AT BE BG CH CY CZ DE DK EE ES FI FR GB Philadelphia, PA 19146 (US) GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO • Borowsky, Mark PL PT RO RS SE SI SK SM TR Needham, MA 02494 (US) • Ohsumi, Toshiro Kendrick (30) Priority: 12.11.2010 US 412862 P Cambridge, MA 02141 (US) 20.12.2010 US 201061425174 P 28.07.2011 US 201161512754 P (74) Representative: Clegg, Richard Ian et al Mewburn Ellis LLP (62) Document number(s) of the earlier application(s) in City Tower accordance with Art. 76 EPC: 40 Basinghall Street 11840099.3 / 2 638 163 London EC2V 5DE (GB) (71) Applicant: The General Hospital Corporation Remarks: Boston, MA 02114 (US) •Thecomplete document including Reference Tables and the Sequence Listing can be downloaded from (72) Inventors: the EPO website • Lee, Jeannie T •This application was filed on 05-04-2017 as a Boston, MA 02114 (US) divisional application to the application mentioned • Zhao, Jing under INID code 62. San Diego, CA 92122 (US) •Claims filed after the date of receipt of the divisional application (Rule 68(4) EPC). (54) POLYCOMB-ASSOCIATED NON-CODING RNAS (57) This invention relates to long non-coding RNAs (IncRNAs), libraries of those ncRNAs that bind chromatin modifiers, such as Polycomb Repressive Complex 2, inhibitory nucleic acids and methods and compositions for targeting IncRNAs.
  • Abdominal Epilepsy in an Adult: a Diagnosis Often Missed Psychiatry Section

    Abdominal Epilepsy in an Adult: a Diagnosis Often Missed Psychiatry Section

    DOI: 10.7860/JCDR/2016/19873.8600 Case Report Abdominal Epilepsy in an Adult: A Diagnosis Often Missed Psychiatry Section DEVAVRAT G HARSHE1, SNEHA D HARSHE2, GURUDAS R HARSHE3, GAYATRI G HARSHE4 ABSTRACT Abdominal Epilepsy (AE) is a variant of temporal lobe epilepsy and is commonly seen in pediatric age group. There are however, multiple reports of abdominal epilepsy in adolescents and even in adults. Chronic and recurrent gastrointestinal symptoms with one or more neuropsychiatric manifestations are often the presenting picture for a patient with AE. Such patients therefore, are more likely to consult a general practioner, a physician, a surgeon or a gastroenterologist than consulting a psychiatrist or a neurologist. We hereby present such a case of AE in an adult with review of similar reports. Keywords: Abdominal pain, Consultation liaison psychiatry, Temporal lobe CASE REPORT persisted. Considering the episodic hypertension with headache, A 45-year-old female with no past significant medical or psychiatric pheochromocytoma was suspected and was ruled out, when 24 history was referred to a psychiatric nursing home by a surgeon hours urinary Vanillylmandelic acid (VMA) and serum metanephrines for suspected psychogenic abdominal pain. History consisted of turned out to be normal. Abdominal migraine and porphyria were multiple clustered episodes of abdominal pain since one year; each ruled out considering the duration of episodes, lack of any family episode consisting of insufferable abdominal pain with genuine history and absence of other findings supportive of porphyria. distress. Pain would begin at the right iliac fossa and radiate to Abdominal epilepsy was then considered as the diagnosis and was the umbilical area.
  • | Hai Lala at Matalamitaka Huoleht I

    | Hai Lala at Matalamitaka Huoleht I

    |HAI LALA AT MATALAMITAKAUS009816096B2 HUOLEHT I (12 ) United States Patent (10 ) Patent No. : US 9 ,816 , 096 B2 Heintz et al. (45 ) Date of Patent: Nov . 14 , 2017 ( 54 ) METHODS AND COMPOSITIONS FOR 6 , 143 , 566 A 11/ 2000 Heintz et al. TRANSLATIONAL PROFILING AND 6 , 156 , 574 A 12 / 2000 Heintz et al. 6 , 252 , 130 B1 6 / 2001 Federoff MOLECULAR PHENOTYPING 6 , 270, 969 B1 8 / 2001 Hartley et al. 6 , 403 ,374 B1 6 / 2002 Tsien et al. (71 ) Applicant: THE ROCKEFELLER 6 , 410 , 317 B1 6 /2002 Farmer UNIVERSITY , New York , NY (US ) 6 , 441 , 269 B1 8 / 2002 Serafini et al . 6 , 485 , 912 B1 11/ 2002 Heintz et al. @ 6 , 495 , 318 B2 12 / 2002 Harney ( 72 ) Inventors: Nathaniel Heintz , Pelham Manor, NY 6 ,635 ,422 B2 10 / 2003 Keene et al. (US ) ; Paul Greengard , New York , NY 6 , 821, 759 B1 11/ 2004 Heintz et al . (US ) ; Myriam Heiman , New York , NY 7 , 098, 031 B2B2 8 /2006 Choulika et al . (US ) ; Anne Schaefer , New York , NY 7 ,297 ,482 B2 11 /2007 Anderson et al . (US ) ; Joseph P . Doyle , New York , NY 7 , 393 , 632 B2 7 / 2008 Cheo et al. 2003 /0119104 A1 6 /2003 Perkins et al . (US ) ; Joseph D . Dougherty , St. Louis , 2004 / 0023256 A1 2 / 2004 Puglisi et al . MO (US ) 2005 / 0009028 Al 1 /2005 Heintz et al. 2006 /0183147 AL 8 /2006 Meyer - Franke (73 ) Assignee : THE ROCKEFELLER 2011/ 0314565 Al 12 /2011 Heintz et al . UNIVERSITY , New York , NY (US ) FOREIGN PATENT DOCUMENTS ( * ) Notice : Subject to any disclaimer , the term of this patent is extended or adjusted under 35 EP 1132479 A1 9 / 2001 WO WO -01 / 48480 A1 7 /2001 U .
  • Transcriptomic Signature and Metabolic Programming of Bovine Classical and Nonclassical Monocytes Indicate Distinct Functional Specializations

    Transcriptomic Signature and Metabolic Programming of Bovine Classical and Nonclassical Monocytes Indicate Distinct Functional Specializations

    bioRxiv preprint doi: https://doi.org/10.1101/2020.10.30.362731; this version posted November 1, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. Transcriptomic signature and metabolic programming of bovine classical and nonclassical monocytes indicate distinct functional specializations Stephanie C. Talker1,2, G. Tuba Barut1,2, Reto Rufener3, Lilly von Münchow4, Artur Summerfield1,2 1Institute of Virology and Immunology, Bern and Mittelhäusern, Switzerland 2Department of Infectious Diseases and Pathobiology, Vetsuisse Faculty, University of Bern, Bern, Switzerland 3Institute of Parasitology, Vetsuisse Faculty, University of Bern, Bern, Switzerland 4 Bucher Biotec AG, Basel, Switzerland *Correspondence: Corresponding Author [email protected] Keywords: monocyte subsets, transcriptome, metabolism, cattle Abstract Similar to human monocytes, bovine monocytes can be split into CD14+CD16- classical and CD14-CD16+ nonclassical monocytes (cM and ncM, respectively). Here, we present an in-depth analysis of their steady-state transcriptomes, highlighting pronounced functional specializations. Gene transcription indicates that pro-inflammatory and antibacterial processes are associated with cM, while ncM appear to be specialized in regulatory/anti-inflammatory functions and tissue repair, as well as antiviral responses and T-cell immunomodulation. In support of these functional differences, we found that oxidative phosphorylation prevails in ncM, whereas cM are clearly biased towards aerobic glycolysis. Furthermore, bovine monocyte subsets differed in their responsiveness to TLR ligands, supporting an antiviral role of ncM. Taken together, these data clearly indicate a variety of subset-specific functions in cM and ncM that are likely to be transferable to monocyte subsets of other species, including humans.
  • Ictus Emeticus: Case Reports and Literature Review Ismail A

    Ictus Emeticus: Case Reports and Literature Review Ismail A

    Pakistan Journal of Neurological Sciences (PJNS) Volume 2 | Issue 2 Article 4 7-2007 Ictus Emeticus: Case Reports and Literature Review Ismail A. Khatri Shifa International Hospital Umar S. Chaudhry Shifa International Hospital Abdul Majeed Khatri Neurology Center, Nacogdoches, Texas, USA Zahid F. Cheema University of Oklahoma Medical Center Follow this and additional works at: https://ecommons.aku.edu/pjns Part of the Neurology Commons Recommended Citation Khatri, Ismail A.; Chaudhry, Umar S.; Khatri, Abdul Majeed; and Cheema, Zahid F. (2007) "Ictus Emeticus: Case Reports and Literature Review," Pakistan Journal of Neurological Sciences (PJNS): Vol. 2 : Iss. 2 , Article 4. Available at: https://ecommons.aku.edu/pjns/vol2/iss2/4 C A S E R E P O R T ICTUS EMETICUS: CASE REPORTS AND LITERATURE REVIEW Ismail A. Khatri1, Umar S. Chaudhry1, Abdul Majeed Khatri2, Zahid F. Cheema3 1Department of Neurology, Shifa International Hospital, Islamabad, Pakistan; 2 Neurology Center, Nacogdoches, Texas, USA; 3Department of Neurology, University of Oklahoma Medical Center, Oklahoma City, OK, USA Correspondence to: Dr. Khatri, Section of Neurology, Shifa International Hospitals Ltd., Pitras Bukhari Road, Sector H-8/4, Islamabad 46000, Pakistan. Tel: (92-51) 444-6801-30 Ext: 3175, 3025. Fax: (92-51) 486-3182. Email: [email protected] Pak J Neurol Sci 2007; 2(2):96-98 ABSTRACT The diagnosis of abdominal epilepsy came into vogue in the 1950s and 1960s. Vomiting as a manifestation of seizure has been given different names including ictus emeticus. We report three cases of this interesting albeit uncommon condition. It is important for physicians to familiarize themselves with this symptomatology so as not to overlook this unique presentation of epileptic seizures.
  • Dissecting the Non-Canonical Functions of P53 Through Novel Target Identification and P53 Acetylation

    Dissecting the Non-Canonical Functions of P53 Through Novel Target Identification and P53 Acetylation

    Dissecting the non-canonical functions of p53 through novel target identification and p53 acetylation Shang-Jui Wang Submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy Under the Executive Committee of the Graduate School of Arts and Sciences COLUMBIA UNIVERSITY 2014 © 2014 Shang-Jui Wang All rights reserved ABSTRACT Dissecting the non-canonical functions of p53 through novel target identification and p53 acetylation Shang-Jui Wang It is well established that the p53 tumor suppressor plays a crucial role in controlling cell proliferation and apoptosis upon various types of stress. There is increasing evidence showing that p53 is also critically involved in various non-canonical pathways, including metabolism, autophagy, senescence and aging. Through a ChIP-on-chip screen, we identified a novel p53 metabolic target, pantothenate kinase-1 (PANK1). PanK1 catalyzes the rate-limiting step for CoA synthesis, and therefore, controls intracellular CoA content; Pank1 knockout mice exhibit defect in -oxidation and gluconeogenesis in the liver after starvation due to insufficient CoA levels. We demonstrated that PANK1 gene is a direct transcriptional target of p53. Although DNA damage-induced p53 upregulates PanK1 expression, depletion of PanK1 expression does not affect p53-dependent growth arrest or apoptosis. Interestingly, upon glucose starvation, PanK1 expression is significantly reduced in HCT116 p53 (-/-) but not in HCT116 p53 (+/+) cells, suggesting that p53 is required to maintain PanK1 expression under metabolic stress conditions. Moreover, by using p53-mutant mice, we observed that PanK activity and CoA levels are lower in livers of p53-null mice than that of wild-type mice upon starvation.
  • Dictionary of Epilepsy

    Dictionary of Epilepsy

    DICTIONARY OF EPILEPSY PART I: DEFINITIONS .· DICTIONARY OF EPILEPSY PART I: DEFINITIONS PROFESSOR H. GASTAUT President, University of Aix-Marseilles, France in collaboration with an international group of experts ~ WORLD HEALTH- ORGANIZATION GENEVA 1973 ©World Health Organization 1973 Publications of the World Health Organization enjoy copyright protection in accord­ ance with the provisions of Protocol 2 of the Universal Copyright Convention. For rights of reproduction or translation of WHO publications, in part or in toto, application should be made to the Office of Publications and Translation, World Health Organization, Geneva, Switzerland. The World Health Organization welcomes such applications. PRINTED IN SWITZERLAND WHO WORKING GROUP ON THE DICTIONARY OF EPILEPSY1 Professor R. J. Broughton, Montreal Neurological Institute, Canada Professor H. Collomb, Neuropsychiatric Clinic, University of Dakar, Senegal Professor H. Gastaut, Dean, Joint Faculty of Medicine and Pharmacy, University of Aix-Marseilles, France Professor G. Glaser, Yale University School of Medicine, New Haven, Conn., USA Professor M. Gozzano, Director, Neuropsychiatric Clinic, Rome, Italy Dr A. M. Lorentz de Haas, Epilepsy Centre "Meer en Bosch", Heemstede, Netherlands Professor P. Juhasz, Rector, University of Medical Science, Debrecen, Hungary Professor A. Jus, Chairman, Psychiatric Department, Academy of Medicine, Warsaw, Poland Professor A. Kreindler, Institute of Neurology, Academy of the People's Republic of Romania, Bucharest, Romania Dr J. Kugler, Department of Psychiatry, University of Munich, Federal Republic of Germany Dr H. Landolt, Medical Director, Swiss Institute for Epileptics, Zurich, Switzerland Dr B. A. Lebedev, Chief, Mental Health, WHO, Geneva, Switzerland Dr R. L. Masland, Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA Professor F.
  • A Rare Cause of Unexplained Abdominal Pain

    A Rare Cause of Unexplained Abdominal Pain

    Open Access Case Report DOI: 10.7759/cureus.10120 Abdominal Epilepsy: A Rare Cause of Unexplained Abdominal Pain Anvesh Balabhadra 1 , Apoorva Malipeddi 2 , Niloufer Ali 3 , Raju Balabhadra 4 1. Department of Neurology, Gandhi Medical College and Hospital, Hyderabad, IND 2. Department of Internal Medicine, Gandhi Medical College and Hospital, Hyderabad, IND 3. Department of Neurology, Aster Prime Hospital, Hyderabad, IND 4. Department of Neurological Surgery, Aster Prime Hospital, Hyderabad, IND Corresponding author: Anvesh Balabhadra, [email protected] Abstract Abdominal epilepsy (AE) is a very rare diagnosis; it is considered to be a category of temporal lobe epilepsies and is more commonly a diagnosis of exclusion. Demographic presentation of AE is usually in the pediatric age group. However, there is recorded documentation of its occurrence even in adults. AE can present with unexplained, relentless, and recurrent gastrointestinal symptoms such as paroxysmal pain, nausea, bloating, and diarrhoea that improve with antiepileptic therapy. It is commonly linked with electroencephalography (EEG) changes in the temporal lobes along with symptoms that reflect the involvement of the central nervous system (CNS) such as altered consciousness, confusion, and lethargy. Due to the vague nature of these symptoms, there is a high chance of misdiagnosing a patient. We present the case of a 20-year-old man with AE who was misdiagnosed with psychogenic abdominal pain after undergoing multiple investigations with various hospital departments. Categories: Neurology, Gastroenterology, General Surgery Keywords: eeg, abdominal epilepsy, temporal lobe epilepsy, unexplained abdominal pain Introduction Abdominal epilepsy (AE) is a rare syndrome, even rarer when seen in adults and presents with paroxysmal symptoms favouring an abdominal pathology that result from seizure activity [1].
  • The Synaptic Proteome During Development and Plasticity of the Mouse Visual Cortex 97 Molecular and Cellular Proteomics in Press

    The Synaptic Proteome During Development and Plasticity of the Mouse Visual Cortex 97 Molecular and Cellular Proteomics in Press

    VU Research Portal Visual cortex plasticity in the mouse: The role of Notch1 and proteomic analysis of new regulatory mechanisms Dahlhaus, M. 2011 document version Publisher's PDF, also known as Version of record Link to publication in VU Research Portal citation for published version (APA) Dahlhaus, M. (2011). Visual cortex plasticity in the mouse: The role of Notch1 and proteomic analysis of new regulatory mechanisms. General rights Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights. • Users may download and print one copy of any publication from the public portal for the purpose of private study or research. • You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal ? Take down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. E-mail address: [email protected] Download date: 06. Oct. 2021 Visual cortex plasticity in the mouse: The role of Notch1 and proteomic analysis of new regulatory mechanisms Martijn Dahlhaus VRIJE UNIVERSITEIT Visual cortex plasticity in the mouse: The role of Notch1 and proteomic analysis of new regulatory mechanisms ACADEMISCH PROEFSCHRIFT ter verkrijging van de graad Doctor aan de Vrije Universiteit Amsterdam, op gezag van de rector magnificus prof.dr.
  • Abdominal Epilepsy in a Nigerian Child S

    Abdominal Epilepsy in a Nigerian Child S

    of Ch al ild rn u H o e a J l t A h S of Ch al ild rn u H o e a J l t A h S of Ch al ild CASE REPORT rn u H o e a J l t A h Abdominal epilepsy in a Nigerian child S Garba M Ashir, MB BS, MPHM, FWACP Mohammed A Alhaji, MB BS, MWACP Mustapha M Gofama, MB BS, MWACP Department of Paediatrics, University of Maiduguri Teaching Hospital, Maiduguri, Nigeria Abdullahi Bello Ibrahim, MB BS Nwaizu C Azuka, MB BS Federal Medical Centre Azare, Bauchi State, Nigeria Corresponding author: G M Ashir ([email protected]) Abdominal epilepsy is an exceptionally rare cause of abdominal pain that is more likely to occur in children than in adults. We report on a child with episodic paroxysmal abdominal pain, accompanied by flatulence, neck pain, tiredness and bilateral weakness of the lower limbs. The findings on physical examination were normal except for Mongolian spots. Haematological investigations, radiographs and an ultrasound scan were normal. The electro-encephalogram showed temporal lobe dysrhythmia during a typical attack. The patient responded well to carbamazepine and remained asymptomatic during the 6 months prior to our writing this article, while taking her treatment regularly. Abdominal epilepsy (AE) is an extremely rare syndrome of Other investigations included an abdominal ultrasound scan epilepsy that is more likely to occur in children than adults. and upper and lower gastro-intestinal tract barium studies. Gastro-intestinal complaints, most commonly abdominal pain, No abnormalities were found. Finally an EEG done during result from seizure activity.1 The syndrome is characterised an episode of the abdominal pain revealed left temporal by: (i) otherwise unexplained, paroxysmal gastro-intestinal dysrhythmia.
  • Abdominal Epilepsy As an Unusual Cause Ofabdominal Pain: a Case Report

    Abdominal Epilepsy As an Unusual Cause Ofabdominal Pain: a Case Report

    Abdominal epilepsy as an unusual cause ofabdominal pain: a case report. Yılmaz Yunus1, Ustebay Sefer2, Ulker Ustebay Dondu2, Ozanli Ismail3, Ehi Yusuf2 1. Kafkas University, Medical Faculty, Pediatrics 2. Kafkas University Training and Research Hospital 3. Kars Government Hospital, Department of Pediatrics Abstract: Introduction: Abdominal pain, in etiology sometimes difficult to be defined, is a frequent complaint in childhood. Abdominal epilepsy is a rare cause of abdominal pain. Objectives: In this article, we report on 5 year old girl patient with abdominal epilepsy. Methods: Some investigations (stool investigation, routine blood tests, ultrasonography (USG), electrocardiogram (ECHO) and electrocardiograpy (ECG), holter for 24hr.) were done to understand the origin of these complaints; but no abnormalities were found. Finally an EEG was done during an episode of abdominal pain and it was shown that there were generalized spikes especially precipitated by hyperventilation. The patient did well on valproic acid therapy and EEG was normal 1 month after beginning of the treatment. Discussion: The cause of chronic recurrent paroxymal abdominal pain is difficult for the clinicians to diagnose in childhood. A lot of disease may lead to paroxysmal gastrointestinal symptoms like familial mediterranean fever and porfiria. Abdominal epilepsy is one of the rare but easily treatable cause of abdominal pain. Conclusion: In conclusion, abdominal epilepsy should be suspected in children with recurrent abdominal pain. Keywords: Abdominal epilepsy, abdominal pain, case report. DOI: http://dx.doi.org/10.4314/ahs.v16i3.32 Cite as: Yunus Y, Sefer U, Dondu UU, Ismail O, Yusuf E. Abdominal epilepsy as an unusual cause of abdominal pain: a case report.