61. Autonomic Differential Diagnosis Nosology congenital insensitivity to pain with anhidrosis (CIPA); Gene mutations.Deletions, splicesite, frame shift, missense mutations http://www.neuro.wustl.edu/neuromuscular/autonomic.html

Front Search Index Links ... Patient Info AUTONOMIC DISORDERS Diseases or syndromes Acute Amyloidosis Catecholamines ... Urinary Other Pavlov laboratory External links Canine dysautonomia Pupil disorders From Horsley Gantt AUTONOMIC DISEASE SYNDROMES Systemic diseases Amyloidosis Diabetes Mellitus Porphyria Infections or related toxins Botulism Chagas' Diphtheria : Systemic syndrome HIV Leprosy Rabies Chronic renal or hepatic disease: Usually subclinical Immune disorders Acute Dysautonomia Paraneoplastic : Especially Small cell lung cancer Sensory neuronopathy: anti-Hu Dysautonomia Enteric neuropathy anti-Hu ... LEMS ? Collagen Vascular Disorders System Degenerations Idiopathic Orthostatic Hypotension Shy-Drager (Multiple systems atrophy) Parkinsonism : DOPA responsive Mitochondrial - MNGIE M yopathy and external ophthalmoplegia; N europathy; G astro- I ntestinal; E ncephalopathy) Neuronal intranuclear inclusion disease (NIID) Hereditary autonomic disorders Congenital Anhidrotic ectodermal dysplasia Aniridia : Paired box gene 6; 11p13 Biemond congenital anaesthesia HSAN 2 HSAN 3 : (Riley-Day): IKBKAP; 9q31 HSAN 4 : TRKA/NGFR; 1q21-q22

62. Small Fiber Sensory Congential insensitivity to pain without anhidrosis (HSAN V) l ? Inheritance.Onset congenital; Clinical. Sensory loss. pain; Temperature; Location http://www.neuro.wustl.edu/neuromuscular/sensory-small.html

Front Search Index Links ... Patient Info SENSORY DISORDERS: Small Fiber Metabolic Diabetes mellitus Hypertriglyceridemia Hereditary Amyloidosis Hereditary Sensory Neuropathy I (HSAN I) Congenital sensory neuropathy with anhidrosis (HSN IV) Congential insensitivity to pain sensation without anhidrosis (Tangier's) Hereditary sensory neuropathy + Spastic paraparesis (Cavanagh's variant) Hereditary sensory neuropathy with loss of pain perception Congenital indifference to pain Navajo neuropathy with arthropathy Cold-Induced Sweating Syndrome Toxic : Kepone; Ciguatera Infection Leprosy M-protein Idiopathic : Often painful Unmyelinated axons Hereditary Sensory Neuropathy I (HSAN I; HSN I) l Serine palmitoyltransferase, long-chain base subunit 1 (SPTLC1) ; Chromosome 9q22.1-q22.3; Dominant Genetics 3 point mutations identified (C133Y, C133W, V144D) Serine palmitoyltransferase (SPT) enzyme: Sphingolipid biosynthesis Mutation effects Increased Glucosyl ceramide synthesis: ? Leads to apoptosis Reduced serine palmitoyltransferase activity Normal levels of protein Clinical features Onset: 2nd decade or later; Average 25 years

63. Congenital Insensitivity To Pain With Anhidrosis (CIPA): Effect Of TRKA (NTRK1) Novel Pathogenic Mechanisms of congenital insensitivity to pain with AnhidrosisGenetic Disorder Unveiled by Functional Analysis of Neurotrophic Tyrosine http://hmg.oxfordjournals.org/cgi/content/abstract/10/3/179

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (17) Request Permissions PubMed PubMed Citation Articles by Mardy, S. Articles by Indo, Y. Human Molecular Genetics, 2001, Vol. 10, No. 3 Oxford University Press Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA ) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor Sek Mardy Yuichi Miura Fumio Endo Ichiro Matsuda and Yasuhiro Indo Department of Pediatrics, Kumamoto University School of Medicine, Honjo 1-1-1, Kumamoto 860-8556, Japan Human TRKA ) encodes the receptor tyrosine kinases (RTKs) for nerve growth factor (NGF) and is the gene responsible for congenital insensitivity to pain with anhidrosis (CIPA), an

64. Congenital Insensitivity To Pain With Anhidrosis (CIPA): Effect Of TRKA (NTRK1) http://hmg.oxfordjournals.org/cgi/reprint/10/3/179

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65. Abstract ID A75 A working diagnosis of congenital insensitivity to pain was made. Naltrexone wasstarted in an effort to protect him from his selfinjurious behavior; http://www.asra.com/Abstracts/Archives/spring_2005/A75.final.html

Abstract ID: A75 Abstract Title: Pain, The Gift That No One Wants: A Case Study of Hereditary Sensory and Autonomic Neuropathy (HSAN) Poster Type: Poster ABSTRACT BODY Introduction: Every pediatrician discusses child proofing the house with parents and every anesthesiologist discusses the importance of the autonomic nervous system during surgery with residents. How then, do we protect children from themselves and manage their anesthesia, if they do not have pain sensation and have autonomic nervous system dysfunction? Anesthetic Management: This patient underwent muscle and sural nerve biopsies as a part of the diagnostic workup for his condition under general anesthesia. After attaching standard monitors, tailored general anesthesia was administered with caution to avoid possible hemodynamic instability. This included midazolam pre-medication, sevoflurane induction, LMA airway support, sevoflurane and nitrous oxide maintenance. Local anesthetic infiltration and acetaminophen were used for post-op pain control. Higher MAC of sevoflurane was needed while anesthetic course was uneventful. Discussion: ATTACHED FILES A75_Types of HSAN.doc

66. Congenital Autonomic Dysfunction With Universal Pain Loss (Riga-Fede Disease) congenital autonomic dysfunction with universal pain loss (RigaFede The patient s insensitivity to pain results in mutilation of the oral mucosa. http://dermatology.cdlib.org/DOJvol7num2/nyu2/7/7.html

refs = new Array("References:","Burgess G, et al. Eosinophilic ulcer of the tongue: report of two cases. Arch Dermatol 113:644, 1977 ", "Elzay R. Traumatic ulcerative granuloma with stromal eosinophilia (Riga-Fede's disease and traumatic eosinophilic granuloma). Oral Surg Oral Med Oral Pathol 55:497, 1983 ", "Rongioletti F, et al. Traumatic eosinophilic ulcer of the oral mucosa. Cutis 43:357, 1989 ", "Eichenfeld L, et al. Traumatic granoloma of the tongue (Riga-Fede disease): association with familial dysautonomia. J Pediatr 116:742, 1990 ", "Mezei M, et al. Eosinophilic ulcer of the oral mucosa. J Am Acad Dermatol 33:734, 1995 "); DOJ Contents English Congenital autonomic dysfunction with universal pain loss (Riga-Fede disease) Brian R. Toy Dermatology Online Journal 7(2): 17 New York University Department of Dermatology History This 20-month-old boy presented to the Bellevue Hospital Medical Center at age ten months for evaluation of oral plaques of three-months duration. The lesions appeared shortly after teething and were exacerbated by repetitive tongue thrusting and lip biting. Past medical history includes developmental delay and poor feeding since birth. Family history is negative for skin and developmental disorders and congenital syndromes.

67. AAPM&R - Case No. 43, Cont Rosemberg S, Marie SK, Kliemann S. congenital insensitivity to pain withanhidrosis (hereditary sensory and autonomic neuropathy type IV). http://www.aapmr.org/education/emgcases/emg5903e.htm

Search Entire Site Member Center PASSOR Practice Issues Legislative/Business/Clinical Annual Assembly Medical Education Industry Opportunities What is a Physiatrist? Legislative, Business and Clinical Practice Issues Annual Assembly Medical Education ... EMG EMG CASE No. 59, January 2003, continued Diagnostic Impression Nerve conduction studies showed absent sural sensory nerve potentials bilaterally, with borderline right ulnar sensory nerve evoked amplitude. Borderline low tibial compound motor action potential amplitude and delay in distal latencies bilaterally are also noted. Motor nerve conduction velocities were all borderline slow. Electromyography was essentially normal. The electrodiagnostic impression: Predominantly sensory axonal polyneuropathy with some evidence of motor involvement, axonal and demyelinating in nature. What other diagnostic procedures (laboratory tests, etc.), if any, are needed? What treatment would you recommend? Commentary V Bibliography Hilz MJ. Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Clin Auton Res 2002 May;12 Suppl 1:I33-43.

68. Journal Of Spinal Disorders Techniques - Fulltext Volume 17(4 Spinal Manifestations in a Patient with congenital insensitivity to pain The family history was negative for congenital insensitivity to pain and other http://www.jspinaldisorders.com/pt/re/jsdt/fulltext.00024720-200408000-00013.htm

69. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Pain+Insen Link Directory Finnish Information Center on Mental RetardationInsensitivity to pain, congenital, with anhidrosis congenital insensitivityto pain with anhidrosis (CIPA) effect of TRKA (NTRK1) missense mutations on http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Pain Insensitivity, Congenital

70. American Academy Of Pediatric Dentistry - Search Articles / Publications congenital insensitivity to pain with anhidrosis is a rare disorder. A case ofa male patient presenting with loss of pain and temperature sensation, http://www.aapd.org/searcharticles/article.asp?ARTICLE_ID=1264

71. Annual Reviews - Error congenital insensitivity to pain and endogenous morphinelike substances.Lancet 2293 -94. Desmeules J, Gascon MP, Dayer P, Magistris M. 1991. http://arjournals.annualreviews.org/doi/full/10.1146/annurev.neuro.23.1.777

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72. Congenital Insensitivity To Pain With Anhidrosis - Wikipedia, The Free Encyclope congenital insensitivity to pain with Anhidrosis (CIPA) is a rare inheriteddisorder of the nervous system which prevents the sensation of pain, heat, http://en.wikipedia.org/wiki/Congenital_insensitivity_to_pain_with_anhidrosis

Wikimedia needs your help in the final day of its fund drive. See our fundraising page Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Congenital insensitivity to pain with anhidrosis From Wikipedia, the free encyclopedia. Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare inherited disorder of the nervous system which prevents the sensation of pain heat , and cold . It is caused by a genetic mutation which prevents the formation of nerve cells which are responsible for transmitting signals of pain heat and cold to the brain Patients with this disorder are very likely to injure themselves in ways that would normally be prevented by feeling pain. There are 35 reported cases in the US and more than 300 in Japan because it occurs more often in homogeneous societies. edit External links CNN.com (Nov 1, 2004): Girl with rare disease doesn't know pain This medical article is a stub . You can help Wikipedia by expanding it Retrieved from " http://en.wikipedia.org/wiki/Congenital_insensitivity_to_pain_with_anhidrosis Categories Medicine stubs Congenital genetic disorders Views Article Discussion Edit this page History Personal tools Create account / log in Navigation Main Page Community portal Current events Recent changes ... Donations Search Toolbox What links here Related changes Upload file Special pages ... Permanent link This page was last modified 14:28, 29 June 2005.

73. ABC News: Does Pain Serve A Purpose? The condition — called congenital insensitivity to pain with anhidrosis, and alsoknown as CIPA — affects nerve endings. Because sufferers have no ability http://abcnews.go.com/Health/PainManagement/story?id=741257&page=1

74. Child Abuse Or Congenital Insensitivity To Pain? Translate this page congenital insensitivity to pain is a rare illness that can cause accidentalexternal and internal injuries in children. When child abuse is suspected, http://www.pulsus.com/Paeds/08_03/esca_ed.htm

forgot your password? REPORT March 2003, Volume 8, Number 3: Child abuse or congenital insensitivity to pain? Congenital insensitivity to pain is a rare illness that can cause accidental external and internal injuries in children. When child abuse is suspected, the awareness of this illness can complicate any medicolegal interpretation of findings. Several components are needed to diagnose congenital insensitivity to pain: lack of sensitivity to pain since birth; involvement of the whole body; integrity of osteotendinous reflexes; and other sensitivity processes and negative paraclinical, including histological, examinations. This article describes the case of two siblings examined during an emergency legal procedure at the forensic medicine unit of the Grenobles University Hospital Centre in France. The medico-legal interpretation of facts and examinations must be conservative in case of legal complications and must follow an analysis of the child’s and family’s medicosocial problems since the child’s birth. The family’s socioeducational support and the communication of information on this illness should be a priority to avoid any misunderstanding and overrun in the child’s management and monitoring.

75. International Symposium On CIPA 2003 International Symposium on congenital insensitivity to pain with Anhidrosis 2003 CIII2) Anesthesia in congenital insensitivity to pain and anhidrosis http://www.tomorrow.or.jp/eng_sympo03.html

International Symposium on Congenital Insensitivity to Pain with Anhidrosis 2003 MESSAGES : President,Organizing Committee MESSAGES : President,"Tomorrow" CIPA-2003 program 3/11/19 International Symposium on Congenital Insensitivity to Pain with Anhidrosis (CIPA) 2003 Date Venue National Center for Child Health and Development (NCCHD), Setagaya-ku,Okura, Tokyo, Japan http://www.ncchd.go.jp/ Main Hotel Hotel Komaba-Eminence, Meguro-ku, Ohashi, Tokyo, Japan http://www.komaba-eminence.com/ Official Languages English and Japanese (simultaneous translation available) Registration on site Exhibitions Scientific (posters, videos) and welfare apparatuses exhibitions such as wheelchairs, etc. will be demonstrated throughout the meeting days. November 23 (Sun) 9:00 - 9:05 Opening Remarks 1. Welcome address

76. International Symposium On CIPA 2003 International Symposium on congenital insensitivity to pain with Anhidrosis 2003. MESSAGES President,Organizing Committee http://www.tomorrow.or.jp/eng_sympo01.html

International Symposium on Congenital Insensitivity to Pain with Anhidrosis 2003 MESSAGES : President,Organizing Committee MESSAGES : President,"Tomorrow" CIPA-2003 program 3/11/19 Concerning the International Symposium on Congenital Insensitivity to Pain with Anhidrosis (IS-CIPA) 2003 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare congenital condition characterised by reduced sensitivity to pain and heat, and an inability to sweat. It was first reported by the Tokyo University team of Nishida et al. in 1951, at which time a full understanding was not possible due to insufficient patient numbers. The results of work done with CIPA in Japan have attracted worldwide attention, leading to this international symposium on CIPA being held in this country. The aim of this symposium will be for specialists in fields related to CIPA and the families of sufferers, from both Japan and overseas, to discuss a broad range of topics, including basic research, clinical developments, and support measures. Learning more about this disease shows us how much a disturbance of two of the basic human defence mechanisms, the abilities to feel pain and to sweat, can interfere with human lifestyle. The study of CIPA can also aid in the elucidation of the mechanism and role of sweating and sensitivity to pain and heat. We look forward to the attendance, and participation in lively discussions, of members of the medical, welfare, educational and psychological professions, as well as lay people.

77. Pain - Suffering, Physical - Information Page With HONselect Analgesia Analgesics Hyperalgesia pain insensitivity, congenital Palliative Care DCycloserine in the Management of Chronic Low Back pain http://www.hon.ch/HONselect/Selection/C23.888.592.612.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Pain": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Pain Definition: An unpleasant sensation induced by noxious stimuli and generally received by specialized nerve endings. Synonym(s): Suffering, Physical / Ache / Pain, Burning / Pain, Crushing / Narrow term(s): Back Pain Facial Pain Neuralgia Abdominal Pain ... Pain Threshold See also: Analgesia Analgesics Hyperalgesia Pain Insensitivity, Congenital ... New search Web resources for "Pain" = Site with HON description - = Site with a robot description info: enter the site: (click below) domain of the site: Symptom: Pain - WrongDiagnosis.com www.wrongdiagnosis.com HONcode - Symptom Management in Cancer: Pain, Depression, and Fatigue (CBM 2002-4) www.nlm.nih.gov HONcode - Pain www.meb.uni-bonn.de

78. Anesthesia For Patients With Congenital Insensitivity To Pain And Anhidrosis: A Anesthesia for Patients with congenital insensitivity to pain and Anhidrosis AQuestionnaire Study in Japan. Toshiya Tomioka, MD, PhD* , Yutaka Awaya, MD, http://www.anesthesia-analgesia.org/cgi/content/abstract/94/2/271

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a colleague Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (2) PubMed PubMed Citation Articles by Tomioka, T. Articles by Hanaoka, K. Related Collections Pediatrics Pain Anesth Analg 2002;94:271-274 International Anesthesia Research Society PEDIATRIC ANESTHESIA Anesthesia for Patients with Congenital Insensitivity to Pain and Anhidrosis: A Questionnaire Study in Japan Toshiya Tomioka, MD, PhD Yutaka Awaya, MD, PhD Kenji Nihei, MD, PhD Hiroshi Sekiyama, MD Shigehito Sawamura, MD, PhD , and Kazuo Hanaoka, MD, PhD *Department of Anesthesiology, Faculty of Medicine, The University of Tokyo; Department of Pediatrics, Seibo International Catholic Hospital; and

79. UniProtKB/Swiss-Prot Entry P04629 [NTRK1_HUMAN] High Affinity Nerve Growth Facto A novel NTRK1 mutation associated with congenital insensitivity to pain withanhidrosis. ; Am. J. Hum. Genet. 6412071210(1999). http://us.expasy.org/cgi-bin/niceprot.pl?P04629

80. Congenital Megacolon - Definition Of Congenital Megacolon By The Free Online Dic congenital insensitivity to pain with anhidrosis congenital insensitivity topain with anhidrosis congenital Joint Laxity and Dwarfism http://www.thefreedictionary.com/congenital megacolon

Domain='thefreedictionary.com' word='congenital megacolon' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia congenital megacolon Also found in: Medical Wikipedia 0.05 sec. Page tools Printer friendly Cite / link Email Feedback Thesaurus Legend: Synonyms Related Words Antonyms Noun congenital megacolon - congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon Hirschsprung's disease congenital disease genetic abnormality genetic defect ... inherited disorder - a disease or disorder that is inherited genetically Mentioned in References in classic literature No references found No references found Dictionary/thesaurus browser Full browser congenital abnormality congenital afibrinogenemia congenital anomaly congenital defect ... congenital heart defect congenital megacolon congenital myxedema congenital pancytopenia Congenitally Congenite ... Congenital Limb Deficiency congenital megacolon Congenital Melanocytic Nevus Congenital metabolic disease Congenital metabolic disease congenital myxedema ... congenital syphilis Word (phrase): Word Starts with Ends with Definition Free Tools: For surfers: Browser extension Word of the Day NEW!

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