41. Applied Biosystems - BioBeat - Novel Mutation Associated With Pain Insensitivity NTRK1 gene and shown that it is associated with CIPA, a rare autosomal recessivedisease characterized by congenital insensitivity to pain (CIP), anhidrosis (A http://www.appliedbiosystems.com/biobeat/breakthroughs/bk30.cfm

Products MSDS Store BioBeat Subscribe Contact Breakthroughs ... Awards Novel Mutation Associated with Pain Insensitivity, Self-Mutilation, and Inability to Sweat Researchers in Italy have identified a novel mutation in the gene and shown that it is associated with CIPA from PE Biosystems. The NTRK1 gene codes for the protein known as neurotrophin tyrosine kinase, receptor, type 1. This protein is a high-affinity receptor for nerve growth factor (NGF). The authors of this report are from the National Tumor Institute in Milan, and the Gaslini Institute , Department of Pediatrics, in Genoa. More detail Greco, A. et al., Am. J. Hum. Genet. 1207-1210; April 1999. [ Medline abstract Careers Contact Us

42. Peripheral Nervous System Diseases Links to information about peripheral nervous system diseases by Cliniweb International.Category Health Conditions and Diseases Peripheral Nervous System...... Hereditary Sensory and Autonomic Neuropathies (HSAN) Washington U. paininsensitivity, congenital Search PUBMED for pain insensitivity http://www.ohsu.edu/cliniweb/C10/C10.772.html

Peripheral Nervous System Diseases Back to previous level Acrodynia Search PUBMED for Acrodynia: All Review Therapy Diagnosis Amyloid Neuropathies Search PUBMED for Amyloid Neuropathies: All Review Therapy Diagnosis ... Autonomic Nervous System Diseases [5 more specific term/s, 4 more link/s] Search PUBMED for Autonomic Nervous System Diseases: All Review Therapy Diagnosis ... Cranial Nerve Diseases [8 more specific term/s, 31 more link/s] Search PUBMED for Cranial Nerve Diseases: All Review Therapy Diagnosis ... Demyelinating Diseases [2 more specific term/s, more link/s] Search PUBMED for Demyelinating Diseases: All Review Therapy Diagnosis ... Diabetic Neuropathies [1 more specific term/s, 1 more link/s] Search PUBMED for Diabetic Neuropathies: All Review Therapy Diagnosis ... Nerve Compression Syndromes [4 more specific term/s, 4 more link/s] Search PUBMED for Nerve Compression Syndromes: All Review Therapy Diagnosis ... Neuralgia [4 more specific term/s, 20 more link/s] Search PUBMED for Neuralgia: All Review Therapy Diagnosis ... Neuritis [5 more specific term/s, more link/s] Search PUBMED for Neuritis: All Review Therapy Diagnosis ... Neuropathies, Hereditary Motor and Sensory

43. Medical Dictionary - P paigle , pail , pain , pain, ankle , pain, back , pain, chest , pain clinics , pain,elbow , painful , pain insensitivity, congenital , pain, intractable , pain http://doktorhakan.hekim.net/meddic/p1.html

A B C D ... Sonraki >> www.doktorhakan.com var isjs=0, site=22980, icon=1; var code = ''; document.write('') document.write(''); document.write(code);

44. Uhrad.com - Pediatric Imaging Teaching Files uhrad.com Pediatric ImagingTeaching Files. Case Seven - congenitalinsensitivity to pain. Diagnosis congenital insensitivity to pain. http://www.uhrad.com/pedsarc/peds007.htm

uhrad.com - Pediatric ImagingTeaching Files Case Seven - Congenital Insensitivity to Pain Click on Images for Enlarged View Clinical History: 7 year old female with known hereditary sensory neuropathy. Presents with right infected index finger. Findings: AP and lateral view of the right hand demonstrate loss of cortex and length of the distal phalanx of the second finger consistent with erosion of bone as can be seen with osteomyelitis. Irregularity of the cortex of the tip of the first distal phalanx is also seen so that osteomyelitis within this region or the effects of trauma cannot be ruled out. AP view of the foot was also obtained and demonstrate sclerosis and irregularity of the bony margins at the distal aspect of the first metatarsal bone. In addition there is medial subluxation of the distal aspect of the first metatarsal with respect to the first proximal phalanx. These findings are most likely due to remote injury. Differential Diagnosis: Findings in the hand demonstrate acroosteolysis. This may either be familial or acquired. The familial form of acroosteolysis is also known as Hajdu-Cheney syndrome or acquired acroosteolysis causes of which are burns, frostbite, electric shock, exposure to polyvinyl chloride, syringomyelia, diabetes, congenital insensitivity to pain, leprosy, Raynaud's disease, collagen vascular diseases, sarcoidosis, hyperparathyroidism, Lesch-Nyhan syndrome.

45. CancerGene NTRK1 Diseases, Carcinoma, Papillary; Hypohidrosis; pain insensitivity, congenital;Thyroid Neoplasms. Note, see also TRK (CG120 or OMIM164970). Comments. http://caroll.vjf.cnrs.fr/cancergene/CG194.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol Aliases TRKA; TRK Name neurotrophic tyrosine kinase, receptor, type 1 Locus OMIM GDB SwissProt LocusLink Class ONCOGENE; TRANSLOC Diseases Carcinoma, Papillary; Hypohidrosis; Pain Insensitivity, Congenital; Thyroid Neoplasms Note see also TRK ( CG:120 or OMIM:164970 Comments TRK oncogenes are created by chromosomal rearrangements linking the tyrosine-kinase domain of the NTRK1 gene (encoding one of the receptors for the nerve growth factor) to foreign activating sequences. TRK oncogenes are frequently detected in human papillary thyroid carcinoma, as result of rearrangements involving at least three different activating genes. Greco et al. (1993, UI:94117010 ) have found that the rearrangements creating all the TRK oncogenes so far characterized fall within a 2.9-kb XbaI/SmaI restriction fragment of the NTRK1 gene. Translocations Translocation Genes Diseases Refs rearrangement NTRK1/TPM3 (TRK) Papillary Thyroid Carcinoma;

46. CancerGene TRK Shatzky S;Moses S;Levy J;Pinsk V;Hershkovitz E;Herzog L;Shorer Z;Luder A;ParvariR congenital insensitivity to pain with anhidrosis (CIPA) in IsraeliBedouins http://caroll.vjf.cnrs.fr/cancergene/CG120.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol TRK Aliases Name Oncogene TRK; NTRK1/TPM3 chimeric oncogene Locus OMIM GDB SwissProt LocusLink TRK Class ONCOGENE Diseases Carcinoma, Papillary; Colonic Neoplasms; Neuroblastoma; Thyroid Neoplasms Note See also NTRK1 ( CG:194 or OMIM:191315 ) and TPM3 ( CG:188 or OMIM:191030 Comments TRK oncogenes are created by chromosomal rearrangements linking the tyrosine-kinase domain of the NTRK1 ( CG:194 ) gene (encoding one of the receptors for the nerve growth factor) to foreign activating sequences. TRK oncogenes are frequently detected in human papillary thyroid carcinoma, as result of rearrangements involving at least three different activating genes. Greco et al. (1993, UI:94117010 ) have found that the rearrangements creating all the TRK oncogenes so far characterized fall within a 2.9-kb XbaI/SmaI restriction fragment of the NTRK1 gene. Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : Miura Y;Mardy S;Awaya Y;Nihei K;Endo F;Matsuda I;Indo Y

47. Volume 83 January - December 1960 congenital universal insensitivity to pain. DW . Baxter and J . Olszewski.Pages 381 393. Part of the OUP Brain WWW service. General Information. http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_83/Issue_03/830381.sgm.

Volume 83: January - December 1960 Issue 3: September 1960 Abstract Congenital universal insensitivity to pain DW Baxter and J Olszewski Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 13 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

48. Neuroscience For Kids - Pain These people have a rare condition called congenital insensitivity to pain .Their nervous systems are not equipped to detect painful information. http://faculty.washington.edu/chudler/pain.html

Pain and Why It Hurts You may not like it, but we need pain. Pain acts as a warning system that protects you. Pain says, "Warning, Warning....stop what you doing and do something else". For example, if you have your hand on a hot stove, pain tells you to stop touching the stove and remove your hand. In this way, pain protects your body from injury (or further injury if you have already hurt yourself). Pain also helps healing...because an injury hurts, you rest. There are some people who are born WITHOUT the sense of pain. These people have a rare condition called "congenital insensitivity to pain". Their nervous systems are not equipped to detect painful information. You may think this is a good thing....it is NOT. Without the ability to detect painful events, you would continue to cause injury to yourself. For example, if you broke a bone in your arm, you might continue using the arm because it did not hurt. You could cause further injury to your arm. People with congenital insensitivity to pain usually have many injuries like pressure sores, damaged joints and even missing or damaged fingers! So, what kind of things in the outside world can cause pain? Events that cause reactions are called

49. AAPM&R - Case No. 43, Cont Commentary V. Hereditary Sensory Autonomic Neuropathy IV (HSAN IV) isalso called congenital insensitivity to pain and Anhydrosis (CIPA). http://www.aapmr.org/education/emgcases/emg5903e.htm

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. Nolano M, Crisci C, Santoro L et al. Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol 2000 Sep;111(9):1596-601.

50. HONselect - Pain Cross Reference(s) Analgesia, Analgesics. Hyperalgesia, pain insensitivity,congenital, Palliative Care. MeSH 2001 © National Library of Medicine®. http://www.hon.ch/HONselect/Selection/C23.888.592.612.html

HONselect: Introduction Search Browse Favourites List of Rare Disease add HONselect Contents on "Pain": MeSH hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Wondering about the holiday blues! MeSH Hierarchy English French German Spanish Portuguese MeSH Broader term(s) Biological Sciences Musculoskeletal, Neural, and Ocular Physiology Nervous System Physiology Sensation Psychiatry and Psychology Psychological Phenomena and Processes Psychophysiology Sensation Diseases Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Diseases Nervous System Diseases Neurologic Manifestations Pain MeSH definition An unpleasant sensation induced by noxious stimuli and generally received by specialized nerve endings. Subheadings : complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy MeSH Narrow term(s) Back Pain Facial Pain Neuralgia Abdominal Pain Arthralgia Pelvic Pain Headache Neck Pain Pain, Intractable

51. HONselect - Peripheral Nervous System Diseases Information about the main diseases of the peripheral nerves external to the brain and spinal cord.Category Health Conditions and Diseases Peripheral Nervous System...... pain insensitivity, congenital. Accepted term(s) Peripheral Nerve Diseases -PeripheralNeuropathies -PNS (Peripheral Nervous System) Diseases -PNS Diseases. http://www.hon.ch/HONselect/Selection/C10.772.html

HONselect: Introduction Search Browse Favourites List of Rare Disease add HONselect Contents on "Peripheral Nervous System Diseases": MeSH hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Wondering about the holiday blues! MeSH Hierarchy English French German Spanish Portuguese MeSH Broader term(s) Diseases Nervous System Diseases Neuromuscular Diseases Peripheral Nervous System Diseases MeSH definition Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves. Subheadings : complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy MeSH Narrow term(s) Brachial Plexus Neuropathies Complex Regional Pain Syndromes Diabetic Neuropathies Guillain-Barre Syndrome Mononeuropathies Nerve Compression Syndromes Neuralgia Neuritis Peripheral Nervous System Neoplasms Polyneuropathies Acrodynia Amyloid Neuropathies Isaacs Syndrome Neurofibromatosis 1 Pain Insensitivity, Congenital

52. SpringerLink: Clinical Autonomic Research - Abstract Volume 12 Issue 7 (2002) Pp Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditarysensory and autonomic neuropathy type IV Clinical, biological and molecular http://link.springer-ny.com/link/service/journals/10286/bibs/2012007/2012i020.ht

Clinical Autonomic Research ISSN: 0959-9851 (printed version) ISSN: 1619-1560 (electronic version) Table of Contents Abstract Volume 12 Issue 7 (2002) pp I20-I32 DOI 10.1007/s102860200016 Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV Clinical, biological and molecular aspects of mutations in TRKA ) gene encoding the receptor tyrosine kinase for nerve growth factor Yasuhiro Indo Department of Pediatrics, Kumamoto University School of Medicine, Honjo 1-1-1, Kumamoto 860-8556, Japan, Tel.: +81-96/3 73-51 91, Fax: +81-96/3 66-34 71, E-Mail: yindo@kaiju.medic.kumamoto-u.ac.jp Summary Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN-IV) is an autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis (inability to sweat), absence of reaction to noxious (or painful) stimuli, self-mutilating behavior and mental retardation. The anomalous pain and temperature sensation and anhidrosis in CIPA are due to the absence of afferent neurons activated by tissue-damaging stimuli and a loss of innervation of eccrine sweat glands, respectively. Nerve growth factor (NGF) supports the survival of nociceptive sensory and autonomic sympathetic neurons as well as cholinergic neurons of the basal forebrain. The human TRKA ) gene located on chromosome 1 (1q21-q22) encodes a receptor tyrosine kinase (RTK) which is autophosphorylated in response to NGF, thus, activating various pathways of intracellular signal transduction. We earlier identified the genetic basis of CIPA by detecting mutations in

53. Abstract polymorphism analysis of the TRKA (NTRK1) gene encoding a highaffinity receptorfor nerve growth factor in congenital insensitivity to pain with anhidrosis http://link.springer-ny.com/link/service/journals/00439/contents/99/00205/s00439

Original Investigation Please click here for erratum relating to this article Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families Yuichi Miura , Sek Mardy , Yutaka Awaya , Kenji Nihei , Fumio Endo , Ichiro Matsuda and Yasuhiro Indo Department of Pediatrics, Kumamoto University School of Medicine, Honjo 1-1-1, Kumamoto 860-8556, Japan Department of Pediatrics, Seibo International Catholic Hospital, Tokyo, Japan Congenital Insensitivity to Pain with Anhidrosis Association, Japan Department of Neurology, National Children's Hospital, Tokyo, Japan Abstract. The human TRKA gene encodes a high-affinity tyrosine kinase receptor for nerve growth factor. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder reported from various countries and characterized by anhidrosis (inability to sweat), the absence of reaction to noxious stimuli, and mental retardation. We have found that TRKA is the gene responsible for CIPA. We have studied

54. Congenital Sensory Neuropathy congenital insensitivity to pain. autosomal recessive. a CHORUS notecard documentabout congenital insensitivity to pain Welcome to GeneTestsGeneClinics. http://www.tokoimports.com/myers-briggs-online-test.htm

55. Bibliographic Information About Reventive Management Of Children With Congenital including the arthrogryposes 395 pain insensitivity syndromes 395 Syndromes withbrain anomalies 398 Syndromes with congenital contractures (arthrogryposes http://www2.utsouthwestern.edu/cfdocs/library/facultypubs/bib_cite.cfm?titleID=5

56. Irish Medical Journal J Bone Joint Surg Am. 1980 Mar;62(2)28691. Kuo RS, Macnicol MF.congenital insensitivity to pain orthopaedic implications. J http://www.imj.ie/news_detail.php?nNewsId=2285&nVolId=88

57. CHAPTER 3 - SIGNS AND SYMPTOMS OF INFECTIOUS DISEASE Unit 3 Why These people have a rare condition called congenital insensitivity to pain and there are only 32 cases reported in the scientific literature. http://www3.open.uoguelph.ca/de/ideaExchange/zoo1500/cwork/unit3/strat_pain.html

CHAPTER 3 - SIGNS AND SYMPTOMS OF INFECTIOUS DISEASE Unit 3 Why We Get Sick STRATEGIES AND COUNTERSTRATEGIES Pain and Malaise Pain is also an adaptation that can lead us to escape and avoidance. Pain contributes to learning- motivates us to avoid harm and protect ourselves from environmental hazards. alerts us to danger - motivates us to seek help when there is potential for injury e.g. painful tumors. Some people are born WITHOUT the sense of pain and their nervous systems are not equipped to detect painful information. These people have a rare condition called "congenital insensitivity to pain" and there are only 32 cases reported in the scientific literature. Without the ability to detect painful events, these people may continue to cause injury to themselves. Young children with this syndrome have mutilated themselves by chewing off the tips of the fingers and tongue, suffering severe burns when leaning against stoves or sitting in scalding baths. In general, people with congenital insensitivity to pain have many injuries like pressure sores, damaged joints and even missing or damaged fingers and do not usually live past age 30! The Personality of Pain- discusses some of the 32 known case studies of this disease http://www2.itexas.net/~BillPen/Pain.htm

58. Eurodolor The protective role of pain is demonstrated by the follow up of patients afflictedby an congenital insensitivity to pain. congenital insensitivity to pain. http://www.eurodolor.be/UK/generalites/def-aigue.htm

home general information definition DIFFERENT KINDS OF PAIN Not all kinds of pain have been identified and there exist a thousand and one ways of suffering in the body! Pain can be classified in a number of categories according to its intensity and/or its duration or also according to the generator of its mechanisms Acute pain Chronic pain 3. Recurent pain There are many ways of suffering Some other types of pain a. Acute pain Acute pain, often very intense and of a short evolution, appears as an alarm signal that reveals the patient the existence of a latent disorder threatening his physical integrity and that makes him look for the cause and for mitigation. This symptom allows the organism to mobilize itself in order to respond to the aggression and it is often accompanied with anxiety and hyperactivity of the sympathetic nervous system, which may be manifested through abundant perspiration, tachycardia and an increase of the arterial pressure. The protective role of pain is demonstrated by the follow up of patients afflicted by an congenital insensitivity to pain. Congenital insensitivity to pain.

59. Favorites CUIP ( congenital universal insensitivity to pain), typified by earlydetection of general insensitivity to painful stimuli. surgical http://www.sohp.soton.ac.uk/pain/favorite.htm

Pain Option B.Sc. (Hons) OT/PT Back to sohpNET The Theories and Measurement of Pain contents Theories of Pain specificity theory pattern theory ... Further reading Theories of Pain 'an unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage' (International Association for the Study of Pain Subcommittee on Taxonomy) 3 aspects of pain are distinguishable by the human sufferer:- a) sensory / perceptual - discrimination of pain in time, space and intensity b) emotional / motivational - negative feelings which motivate behavioural responses c) cognitive / evaluative - quality of knowing, evaluating, interpreting and conceptualising pain perceptual experience often predominates in acute pain emotional aspects may predominate with chronic pain Back to top a) specificity theory Epicurus (342 - 270 BC) - said that injury was directly equated with pain - psychological factors were ignored Descartes (1644) - captured idea really well in his analogy of bell ringing - pull the rope at the bottom and the bell will ring in the belfry! Muller (1842) - brain received information about painful stimuli only via sensory nerves - proposed the doctrine of specific nerve energies Edinger (1889) - described the spinothalamic pathway Von Frey (1894) - suggested that free nerve endings were specific pain receptors

60. Orthopaedic Web Links (OWL): Teaching Resources/Radiology Votes 0) Rate It Review It. congenital insensitivity to pain, congenitalinsensitivity to pain. http//chorus.rad.mcw.edu/doc/00546 http://www.orthopaedicweblinks.com/Teaching_Resources/Radiology/more4.html

Home New Listings Most Popular Top Rated ... Search OWL: the entire directory only this category More search options Home Teaching Resources Radiology : Page 4 LINKS: Pages: Chondrosarcoma ACR-code 451-3211 http://www.sbu.ac.uk/~dirt/museum/451-3211.html (Added: Thu Jan 31 2002 Hits: 11 Rating: 0.00 Votes: 0) Rate It Review It chondrosarcoma chondrosarcoma http://chorus.rad.mcw.edu/doc/00079.html (Added: Thu Jan 31 2002 Hits: 6 Rating: 0.00 Votes: 0) Rate It Review It Chopart fracture-dislocation Chopart fracture-dislocation http://chorus.rad.mcw.edu/doc/00813.html (Added: Thu Jan 31 2002 Hits: 22 Rating: 0.00 Votes: 0) Rate It Review It Chordoma sacrum ACR-code 331-327 http://www.sbu.ac.uk/~dirt/museum/331-327.html (Added: Thu Jan 31 2002 Hits: 6 Rating: 0.00 Votes: 0) Rate It Review It CHORUS CHORUS is a hypertext medical reference.More than 1100 documents describe diseases, anatomy, and radiologic findings. http://chorus.rad.mcw.edu/index/6.html (Added: Thu Jan 31 2002 Hits: 11 Rating: 0.00 Votes: 0) Rate It Review It claw hand claw hand http://chorus.rad.mcw.edu/doc/00757.html

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